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List of works by Juha Kere

22-Mb integrated physical and genetic map based on YAC/STS content spanning the interval DXS1125-DXS95 in human Xq12-q21.31.

scientific article

<i>DUX4</i> is a multifunctional factor priming human embryonic genome activation

scientific article published on 22 March 2022

A 6-Mb YAC contig in Xp22.1-p22.2 spanning the DXS69E, XE59, GLRA2, PIGA, GRPR, CALB3, and PHKA2 genes

scientific article

A Common β2-Adrenoceptor Gene Haplotype Protects against Obesity in Swedish Women

article

A Second-Generation Association Study of the 5q31 Cytokine Gene Cluster and the Interleukin-4 Receptor in Asthma

article

A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain

scientific article

A candidate gene for psoriasis near HLA-C, HCR (Pg8), is highly polymorphic with a disease-associated susceptibility allele

scientific article

A common haplotype in the G-protein-coupled receptor gene GPR74 is associated with leanness and increased lipolysis

scientific article

A comprehensive analysis of the COL29A1 gene does not support a role in eczema

scientific article published on 25 February 2011

A dominant gene for developmental dyslexia on chromosome 3

scientific article

A follow-up linkage study of Finnish pre-eclampsia families identifies a new fetal susceptibility locus on chromosome 18.

scientific article published on 06 February 2013

A genome scan for developmental dyslexia confirms linkage to chromosome 2p11 and suggests a new locus on 7q32

scientific article

A genome-wide association scan on estrogen receptor-negative breast cancer

scientific article

A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.

scientific article

A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis

scientific article published on 25 July 2013

A genome-wide scan of non-syndromic cleft palate only (CPO) in Finnish multiplex families

scientific article published in February 2005

A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia

scientific article

A missense change in the ATG4D gene links aberrant autophagy to a neurodegenerative vacuolar storage disease

scientific article (publication date: April 2015)

A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR.

scientific article published on 27 October 2017

A multi-ethnic meta-analysis confirms the association of rs6570507 with adolescent idiopathic scoliosis

scientific article published in Scientific Reports

A multiethnic meta-analysis defined the association of rs12946942 with severe adolescent idiopathic scoliosis

scientific article published on 21 February 2019

A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region

scientific article

A new locus for coeliac disease mapped to chromosome 15 in a population isolate

A novel low-penetrance locus for familial glioma at 15q23-q26.3.

scientific article published in July 2002

A novel screening method detects herpesviral DNA in the idiopathic pulmonary fibrosis lung.

scientific article

A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland

scientific article published in February 1999

A preliminary transcriptome analysis suggests a transitory effect of vitamin D on mitochondrial function in obese young Finnish subjects

scientific article published on 01 May 2019

A promoter-level mammalian expression atlas

scientific article

A quality assessment survey of SNP genotyping laboratories

A rare reciprocal translocation (12;21) segregating for nine generations

scientific article

A recurrent mutation in PALB2 in Finnish cancer families.

scientific article

A susceptibility locus for papillary thyroid carcinoma on chromosome 8q24.

scientific article published on January 2009

A teratocarcinoma-like human embryonic stem cell (hESC) line and four hESC lines reveal potentially oncogenic genomic changes

scientific article

A2ML1 and otitis media: novel variants, differential expression, and relevant pathways

scientific article published on 21 May 2019

ABO Genotype and Blood Type Are Associated with Otitis Media

scientific article published on 01 November 2019

AMD-associated complement factor H variant Y402H protects from streptococcal infections—Evidence from bacterial in vitro survival and human genetic association studies

Aberrant splicing of genes involved in haemoglobin synthesis and impaired terminal erythroid maturation in SF3B1 mutated refractory anaemia with ring sideroblasts

scientific article published on 10 August 2015

Abnormalities of chromosomes 7 and 22 in human malignant pleural mesothelioma: Correlation between southern blot and cytogenetic analyses

scientific article published on 01 March 1992

Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia

scientific article published in November 2006

Absence of association between asthma and high serum immunoglobulin E associated GPRA haplotypes and adult atopic dermatitis

scientific article

Acquisition of complement factor H is important for pathogenesis of Streptococcus pyogenes infections: evidence from bacterial in vitro survival and human genetic association

scientific article published on 2 December 2011

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease

scientific article

Acute bacterial, nonnecrotizing cellulitis in Finland: microbiological findings

scientific article published in March 2008

Acute doses of caffeine shift nervous system cell expression profiles toward promotion of neuronal projection growth

scientific article published on 13 September 2017

Acute wheeze-specific gene module shows correlation with vitamin D and asthma medication

scientific article published on 23 January 2020

Age-associated DNA methylation changes in immune genes, histone modifiers and chromatin remodeling factors within 5 years after birth in human blood leukocytes

scientific article

Altered Methylation of IGF2 Locus 20 Years after Preterm Birth at Very Low Birth Weight

scientific article

An RGS2 3'UTR polymorphism is associated with preeclampsia in overweight women

scientific article

An atlas of active enhancers across human cell types and tissues

scientific article

An international meta-analysis confirms the association of BNC2 with adolescent idiopathic scoliosis

scientific article published on 16 March 2018

An unfavorable combination of Factor V Leiden with age, weight, and blood group causes high risk of pregnancy-associated venous thrombosis: a population-based nested case-control study

scientific article published on 12 June 2006

Analysis of Complement C3 Gene Reveals Susceptibility to Severe Preeclampsia

scientific article

Analysis of neuropeptide S receptor gene (NPSR1) polymorphism in rheumatoid arthritis

scientific article

Anhidrotic ectodermal dysplasia (EDA) protein expressed in MCF-7 cells associates with cell membrane and induces rounding

scientific article published on 01 September 1997

Anhidrotic ectodermal dysplasia gene region cloned in yeast artificial chromosomes

scientific article published on May 1993

Anti-telomere antibodies in systemic lupus erythematosus (SLE): a comparison with five antinuclear antibody assays in 430 patients with SLE and other rheumatic diseases

scientific article published on October 2004

Arrhythmic disorder mapped to chromosome 1q42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts

scientific article published in December 1999

Assessment of the neuropeptide S system in anxiety disorders

scientific article published in September 2010

Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2.

scientific article

Association analysis for quantitative traits by data mining: QHPM.

scientific article

Association analysis of common variants of STAT6, GATA3, and STAT4 to asthma and high serum IgE phenotypes

article

Association analysis of positional obesity candidate genes based on integrated data from transcriptomics and linkage analysis

scientific article

Association analysis of the R620W polymorphism of protein tyrosine phosphatase PTPN22 in systemic lupus erythematosus families: increased T allele frequency in systemic lupus erythematosus patients with autoimmune thyroid disease

scientific article published in August 2005

Association and Mutation Analyses of the IRF6 Gene in Families With Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate.

scientific article

Association of psoriasis to PGLYRP and SPRR genes at PSORS4 locus on 1q shows heterogeneity between Finnish, Swedish and Irish families

article

Association study of 15 novel single-nucleotide polymorphisms of the T-bet locus among Finnish asthma families

scientific article published in July 2004

Association study of the IL18RAP locus in three European populations with coeliac disease

scientific article published on 22 December 2008

Association study of the chromosomal region containing the FCER2 gene suggests it has a regulatory role in atopic disorders

scientific article

Associations between the 17q21 region and allergic rhinitis in 5 birth cohorts

scientific article published on 26 September 2014

Associations of body size at birth with late-life cortisol concentrations and glucose tolerance are modified by haplotypes of the glucocorticoid receptor gene

scientific article published on 8 August 2006

Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3.

scientific article

Autosomal dominant midfrequency hearing impairment.

scientific article published in January 2001

Azacitidine induces profound genome-wide hypomethylation in primary myelodysplastic bone marrow cultures but may also reduce histone acetylation

scientific article published on 12 September 2013

BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension

scientific article published in August 2005

Biological and genetic interaction between tenascin C and neuropeptide S receptor 1 in allergic diseases

scientific article

Blood group AB and factor V Leiden as risk factors for pre-eclampsia: a population-based nested case-control study

scientific article

CCHCR1 is up-regulated in skin cancer and associated with EGFR expression

scientific article

CCL2 enhances pluripotency of human induced pluripotent stem cells by activating hypoxia related genes

scientific article

CELSR2 is a candidate susceptibility gene in idiopathic scoliosis

scientific article

CRISPR activation enables high-fidelity reprogramming into human pluripotent stem cells

CTNND2-a candidate gene for reading problems and mild intellectual disability

scientific article published on 3 December 2014

Candidate gene analysis and exome sequencing confirm LBX1 as a susceptibility gene for idiopathic scoliosis

article

Cationic gold nanoparticles elicit mitochondrial dysfunction: a multi-omics study

scientific article published on 13 March 2019

Centrosomal localization of the psoriasis candidate gene product, CCHCR1, supports a role in cytoskeletal organization

scientific article published in 2012

Characterization and target genes of nine human PRD-like homeobox domain genes expressed exclusively in early embryos

scientific article published on 14 July 2016

Characterization of GPRA, a novel G protein-coupled receptor related to asthma

scientific article

Characterization of a common susceptibility locus for asthma-related traits

scientific article

Characterization of four human YAC libraries for clone size, chimerism and X chromosome sequence representation

scientific article published on August 1994

Characterization of the human RFX transcription factor family by regulatory and target gene analysis

scientific article published on 6 March 2018

Chromosome 7 long arm deletion breakpoints in preleukemia: mapping by pulsed field gel electrophoresis

scientific article published in February 1989

Chromosome 7 long arm deletion in myeloid disorders: a narrow breakpoint region in 7q22 defined by molecular mapping

scientific article published on 01 January 1989

Chromosome 7 long-arm deletions in myeloid disorders: terminal DNA sequences are commonly conserved and breakpoints vary

scientific article published on 01 January 1989

Chromosome 7p linkage and GPR154 gene association in Italian families with allergic asthma

scientific article published in January 2007

Ciliary dyslexia candidate genes DYX1C1 and DCDC2 are regulated by Regulatory Factor X (RFX) transcription factors through X-box promoter motifs

scientific article published on 22 July 2016

Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis

article

Clinical associations of the risk alleles of HLA-Cw6 and CCHCR1*WWCC in psoriasis

scientific article published in January 2007

Clinical findings in mosaic carriers of hypohidrotic ectodermal dysplasia

scientific article published in February 2000

Clinically distinct epigenetic subgroups in Silver-Russell syndrome: the degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies

scientific article published on 18 November 2008

Clonal culturing of human embryonic stem cells on laminin-521/E-cadherin matrix in defined and xeno-free environment

scientific article published on January 2014

Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1

scientific article

Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene

scientific article

Clustering of private mutations in the congenital chloride diarrhea/down‐regulated in adenoma gene

article

Co-localization of neural cell adhesion molecule and fibroblast growth factor receptor 2 in early embryo development

scientific journal article

Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus

scientific article

Cohort Profile: Pregnancy And Childhood Epigenetics (PACE) Consortium

scientific article published on 13 September 2017

Cohort profile: the Finnish Genetics of Pre-eclampsia Consortium (FINNPEC).

scientific article

Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia

scientific article

Combined immunodeficiency and hypoglycemia associated with mutations in hypoxia upregulated 1.

scientific article published on 29 November 2016

Complement in Human Pre-implantation Embryos: Attack and Defense

scientific article published on 18 September 2019

Comprehensive mapping of the effects of azacitidine on DNA methylation, repressive/permissive histone marks and gene expression in primary cells from patients with MDS and MDS-related disease

scientific article

Concomitant DNA copy number amplification at 17q and 22q in dermatofibrosarcoma protuberans

scientific article published on 01 January 2001

Conserved sequence-tagged sites: a phylogenetic approach to genome mapping

scientific article published on May 1992

Correction: Ultra-Rare Mutation in Long-Range Enhancer Predisposes to Thyroid Carcinoma with High Penetrance.

scientific article published on 10 September 2013

Corrigendum: Characterization and target genes of nine human PRD-like homeobox domain genes expressed exclusively in early embryos

scientific article published on 2 September 2016

Corrigendum: Gene expression profiling of pre-eclamptic placentae by RNA sequencing

scientific article published on 7 January 2016

Craniofrontonasal dysostosis: variable expression in a three-generation family

Current knowledge of the genetics of otitis media

scientific article published on December 2012

Cusp patterning defect in Tabby mouse teeth and its partial rescue by FGF.

scientific article published in December 1999

Cystic fibrosis gene mutations deltaF508 and 394delTT in patients with chronic sinusitis in Finland

scientific article

Cystic fibrosis in Finland: a molecular and genealogical study

scientific article published in August 1989

Cystic fibrosis in a low-incidence population: two major mutations in Finland

scientific article published on February 1994

Cystic fibrosis mutation delta F508 in Finland: other mutations predominate

scientific article

D.P.3.07 Welander distal myopathy: The evasive gene

article

DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling

scientific article

DCDC2 polymorphism is associated with left temporoparietal gray and white matter structures during development.

scientific article published in October 2014

DNA Methylation Trajectories During Pregnancy

scientific article published on 13 August 2019

DNA Methylation in Newborns and Maternal Smoking in Pregnancy: Genome-wide Consortium Meta-analysis

scientific article published on 30 March 2016

DNA discontinuities in the domain of amplified human MYC oncogenes

scientific article

DNA methylation in childhood asthma: an epigenome-wide meta-analysis

scientific article published on 26 February 2018

DNA methylation in the Neuropeptide S Receptor 1 (NPSR1) promoter in relation to asthma and environmental factors

scientific article

DNA methylation levels within the CD14 promoter region are lower in placentas of mothers living on a farm

scientific article

DYX1C1 functions in neuronal migration in developing neocortex

scientific article

Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes

scientific article published on 20 January 2017

Data mining applied to linkage disequilibrium mapping

scientific article

Deletions at 14q in malignant mesothelioma detected by microsatellite marker analysis

scientific article published on December 1999

Delineating the Healthy Human Skin UV Response and Early Induction of Interferon Pathway in Cutaneous Lupus Erythematosus

scientific article published on 08 April 2019

Detection of a rare allele with the pMP6d-9/MspI RFLP near the cystic fibrosis locus

scientific article published on 01 October 1989

Determination of deletion sizes in the MHC-linked complement C4 and steroid 21-hydroxylase genes by pulsed-field gel electrophoresis

article

Differences in gene expression between mouse and human for dynamically regulated genes in early embryo

scientific article

Differential DNA methylation in purified human blood cells: implications for cell lineage and studies on disease susceptibility

scientific article

Differential regulation of basolateral Cl-/HCO3- exchangers SLC26A7 and AE1 in kidney outer medullary collecting duct

scientific article

Differentially methylated regions in maternal and paternal uniparental disomy for chromosome 7.

scientific article

Differentiation of ciliated human midbrain-derived LUHMES neurons

scientific article published on 28 October 2020

Differentiation of ciliated human midbrain-derived LUHMES neurons

scientific article published on 5 June 2020

Direct selection: a method for the isolation of cDNAs encoded by large genomic regions

scientific article

Discovering heritable modes of MEG spectral power

scientific article published on 01 January 2019

Discovery of molecular markers to discriminate corneal endothelial cells in the human body

scientific article published on 25 March 2015

Distinct expression profiles of stromelysin-2 (MMP-10), collagenase-3 (MMP-13), macrophage metalloelastase (MMP-12), and tissue inhibitor of metalloproteinases-3 (TIMP-3) in intestinal ulcerations

scientific article published on April 1998

Distinct outcomes of chloride diarrhoea in two siblings with identical genetic background of the disease: implications for early diagnosis and treatment

scientific article published in May 2001

Distinct sets of developmentally regulated genes that are expressed by human oocytes and human embryonic stem cells

scientific article published on 27 November 2006

Distinct whole-blood transcriptome profile of children with metabolic healthy overweight/obesity compared to metabolic unhealthy overweight/obesity

scientific article published on 23 November 2020

Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype?

scientific article published on April 2001

Dominant NFKB1 Mutations Cause Antibody Deficiency and Autoinflammatory Episodes ⬇️

scholarly article

Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease

scientific article published on 27 June 2019

Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development

scientific article published on 19 December 2013

Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1.

scientific article published on October 2000

Dopamine, working memory, and training induced plasticity: implications for developmental research

scientific article

Down-regulated in adenoma mediates apical Cl-/HCO3- exchange in rabbit, rat, and human duodenum

scientific journal article

Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea.

scientific article published in January 1999

Downstream target genes of the neuropeptide S-NPSR1 pathway

scientific article

Drug repositioning: a machine-learning approach through data integration

scientific article

Dyslexia Candidate Gene and Ciliary Gene Expression Dynamics During Human Neuronal Differentiation

scientific article published on 22 May 2020

ELMOD2 is a candidate gene for familial idiopathic pulmonary fibrosis

scientific article

ELMOD2, a candidate gene for idiopathic pulmonary fibrosis, regulates antiviral responses

scientific article

Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells

scientific article

Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein

scientific article (publication date: 15 April 2001)

Ectodysplasin, a protein required for epithelial morphogenesis, is a novel TNF homologue and promotes cell-matrix adhesion

scientific journal article

Elevated expression and genetic association links the SOCS3 gene to atopic dermatitis

scientific article

Enhanced expression of neuropeptide S (NPS) receptor in eosinophils from severe asthmatics and subjects with total IgE above 100IU/ml

scientific article published on 13 November 2013

Enrichment of rare copy number variation in children with developmental language disorder

scientific article published on 25 June 2018

Epigenetic alterations in skin homing CD4+CLA+ T cells of atopic dermatitis patients

scientific article published on 22 October 2020

Epigenome-Wide Meta-Analysis of Methylation in Children Related to Prenatal NO2 Air Pollution Exposure

scientific article published on 22 July 2016

Epigenome-wide association data implicate DNA methylation as an intermediary of genetic risk in rheumatoid arthritis

scientific article

Epigenome-wide meta-analysis of DNA methylation and childhood asthma

scientific article published in December 2018

Epigenome-wide meta-analysis of blood DNA methylation in newborns and children identifies numerous loci related to gestational age

scientific article published on 02 March 2020

Erratum to: “Neuropeptide S receptor 1 (NPSR1) activates cancer-related pathways and is widely expressed in neuroendocrine tumors.

scientific article published on 3 July 2014

Erythropoietin receptor mutations associated with familial erythrocytosis cause hypersensitivity to erythropoietin in the heterozygous state

scientific article published on 01 October 1999

Estrogen receptor β, a regulator of androgen receptor signaling in the mouse ventral prostate

scientific article

European families reveal MHC class I and II associations with autoimmune-mediated congenital heart block

scientific article published on 16 February 2018

Evaluation of STOX1 as a preeclampsia candidate gene in a population-wide sample

scientific article

Evaluation of the role of Finnish ataxia-telangiectasia mutations in hereditary predisposition to breast cancer

scientific article published on 13 December 2006

Evidence for genetic association and interaction between the TYK2 and IRF5 genes in systemic lupus erythematosus

scientific article published on 30 June 2009

Evidence for genetic regulation of the human parieto-occipital 10-Hz rhythmic activity

scientific article published on 16 June 2016

Evidence for two molecular steps in the pathogenesis of myeloid disorders associated with deletion of chromosome 7 long arm

article

Evidence of streptococcal origin of acute non-necrotising cellulitis: a serological study

scientific article published on 18 November 2014

Evidence that the MCC-APC gene region in 5q21 is not the site for susceptibility to hereditary nonpolyposis colorectal carcinoma

scientific article published on August 1992

Exclusion of coding-region mutations in luteinizing hormone and follicle-stimulating hormone receptor genes as the cause of ovarian hyperstimulation syndrome

article

Exome sequencing followed by genotyping suggests SYPL2 as a susceptibility gene for morbid obesity

scientific article

Exome sequencing in pooled DNA samples to identify maternal pre-eclampsia risk variants

scientific article published on 07 July 2016

Exposure to Traffic-Related Air Pollution and Serum Inflammatory Cytokines in Children

scientific article

Expression analysis of the NLRP gene family suggests a role in human preimplantation development

scientific article

Expression of SLC26A3, CFTR and NHE3 in the human male reproductive tract: role in male subfertility caused by congenital chloride diarrhoea

scientific article published on 18 January 2006

Expression of allograft inflammatory factor-1 in inflammatory skin disorders

scientific article published on January 2007

Expression of ion transport-associated proteins in human efferent and epididymal ducts

scientific article

Expression of the anhidrotic ectodermal dysplasia gene is reduced in skin cancer coinciding with reduced E-cadherin

scientific article published on August 1998

FANTOM5 CAGE profiles of human and mouse samples

scientific article published on 29 August 2017

FUT2 Variants Confer Susceptibility to Familial Otitis Media

Factor V Leiden as a risk factor for preterm birth--a population-based nested case-control study.

scientific article

Factor V Leiden as risk factor for unexplained stillbirth--a population-based nested case-control study

scientific article

Factors predisposing to acute and recurrent bacterial non-necrotizing cellulitis in hospitalized patients: a prospective case-control study

scientific article published on 20 August 2009

Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family

scientific article

Familial dyslexia: neurocognitive and genetic correlation in a large Finnish family

scientific article published in September 2002

Familial non-syndromic cleft lip and palate--analysis of the IRF6 gene and clinical phenotypes

article

Familial systemic lupus erythematosus in Finland.

scientific article published on April 2001

Family-based association study of DYX1C1 variants in autism

scientific article

Fetal HLA-G mediated immune tolerance and interferon response in preeclampsia

scientific article published on 11 July 2020

Fetal Microsatellite in the Heme Oxygenase 1 Promoter Is Associated With Severe and Early-Onset Preeclampsia

scientific article published on 4 December 2017

Fine mapping of the 2p11 dyslexia locus and exclusion of TACR1 as a candidate gene

scientific article published on 6 March 2004

Fine mapping of the CELIAC2 locus on chromosome 5q31-q33 in the Finnish and Hungarian populations

scientific article

Fine mapping of the EDA gene: a translocation breakpoint is associated with a CpG island that is transcribed

scientific article

Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium

scientific article published on July 1995

Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene

scientific article published in December 1990

Functional characterization of the promoter of the X-linked ectodermal dysplasia gene

scientific article published on September 1999

Functional characterization of three novel tissue-specific anion exchangers SLC26A7, -A8, and -A9

scientific article

Functional comparison of mouse slc26a6 anion exchanger with human SLC26A6 polypeptide variants: differences in anion selectivity, regulation, and electrogenicity

scientific article

Functional interaction of DYX1C1 with estrogen receptors suggests involvement of hormonal pathways in dyslexia

scientific article

Further evidence for DYX1C1 as a susceptibility factor for dyslexia

scientific article

G protein-coupled receptor for asthma susceptibility associates with respiratory distress syndrome

scientific article

GIMAP GTPase family genes: potential modifiers in autoimmune diabetes, asthma, and allergy

scientific article published on 11 May 2015

Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy

scientific article published on 13 June 2019

Gelsolin–derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187

Gene expression analysis of skin grafts and cultured keratinocytes using synthetic RNA normalization reveals insights into differentiation and growth control

scientific article published on 25 June 2015

Gene expression profiling of pre-eclamptic placentae by RNA sequencing

scientific article

Gene mapping in isolated populations: new roles for old friends?

scientific article (publication date: 2000)

Gene mapping with pooled samples on three genotyping platforms

scientific article published on 3 October 2005

Gene-Expression Profiling Suggests Impaired Signaling via the Interferon Pathway in Cstb-/- Microglia

scientific article

Generation of RNA sequencing libraries for transcriptome analysis of globin-rich tissues of the domestic dog ⬇️

scientific article published on 12 December 2021

Genes identified in Asian SLE GWASs are also associated with SLE in Caucasian populations

scientific article published on 19 December 2012

Genetic Analysis of PSORS1 Distinguishes Guttate Psoriasis and Palmoplantar Pustulosis

article

Genetic Disorders of Membrane Transport III. Congenital chloride diarrhea

scientific article

Genetic Screening for Maternal Uniparental Disomy of Chromosome 7 in Prenatal and Postnatal Growth Retardation of Unknown Cause

scientific article published on 01 March 2002

Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort

scientific article published on 11 September 2013

Genetic analysis of membrane cofactor protein (CD46) of the complement system in women with and without preeclamptic pregnancies

scientific article

Genetic association and gene expression analysis identify FGFR1 as a new susceptibility gene for human obesity

scientific journal article

Genetic background and the risk of otitis media

scientific article published on 21 October 2011

Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait

scientific article

Genetic control of serum IgE levels and asthma: linkage and linkage disequilibrium studies in an isolated population

scientific article published in November 1997

Genetic dissection of the pre-eclampsia susceptibility locus on chromosome 2q22 reveals shared novel risk factors for cardiovascular disease

scientific article published on 18 February 2013

Genetic evidence of multiple loci in dystocia--difficult labour

scientific article

Genetic heterogeneity and exclusion of a modifying locus at 17p11.2-p11.1 in Finnish families with van der Woude syndrome

scientific article published in March 2001

Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women

scientific article published on 25 November 2020

Genetic susceptibility to non-necrotizing erysipelas/cellulitis

scientific article

Genetics of complex disorders

scientific article published on May 2010

Genetics of multifactorial diseases

scientific article

Genome scan for loci regulating HDL cholesterol levels in Finnish extended pedigrees with early coronary heart disease

scientific article

Genome scan on Swedish Alzheimer's disease families

scientific article

Genome segmentation using piecewise constant intensity models and reversible jump MCMC.

scientific article published in January 2002

Genome wide association study identifies KCNMA1 contributing to human obesity

scientific article

Genome-wide analysis of extended pedigrees confirms IL2-IL21 linkage and shows additional regions of interest potentially influencing coeliac disease risk

article

Genome-wide analysis of single nucleotide polymorphisms uncovers population structure in Northern Europe

scientific article (publication date: 2008)

Genome-wide association analysis reveals variants on chromosome 19 that contribute to childhood risk of chronic otitis media with effusion

scientific article published on 16 September 2016

Genome-wide association scan identifies a risk locus for preeclampsia on 2q14, near the inhibin, beta B gene

scientific article

Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia

scientific article published on 11 February 2019

Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus

scientific article published on 4 May 2015

Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia

scientific article published on 14 October 2020

Genome-wide linkage analysis of human auditory cortical activation suggests distinct loci on chromosomes 2, 3, and 8.

scientific article published in October 2012

Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci

scientific article published on 7 September 2018

Genomic landscape of positive natural selection in Northern European populations

scientific article

Genomic sequencing of a dyslexia susceptibility haplotype encompassing ROBO1.

scientific article

Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome

scientific article published on 13 May 2011

Genomic structure of the human congenital chloride diarrhea (CLD) gene

scientific article

Genomic structure of the human ezrin gene

scientific article published in December 1998

Genomics and pediatric research

scientific article

Global analysis of uniparental disomy using high density genotyping arrays

scientific article

Globin mRNA reduction for whole-blood transcriptome sequencing

scientific article published on 12 August 2016

Glucocorticoid receptor gene haplotype predicts increased risk of hospital admission for depressive disorders in the Helsinki birth cohort study

scientific article published on 7 April 2011

Guide for library design and bias correction for large-scale transcriptome studies using highly multiplexed RNAseq methods

scientific article published on 13 August 2019

HCR, a candidate gene for psoriasis, is expressed differently in psoriasis and other hyperproliferative skin disorders and is downregulated by interferon-gamma in keratinocytes

scientific article

Haplotype analysis in Icelandic and Finnish BRCA2 999del5 breast cancer families

scientific article published in October 2001

Haplotype analysis to determine the position of a mutation among closely linked DNA markers

article

Haplotype associations define target regions for susceptibility loci in systemic lupus erythematosus

scholarly article by Sari Koskenmies et al published 31 March 2004 in European Journal of Human Genetics

Haplotype construction of the FRDA gene and evaluation of its role in type II diabetes

scientific article published in July 2005

Haplotypes of G protein-coupled receptor 154 are associated with childhood allergy and asthma

scientific article (publication date: 15 May 2005)

Healing a natural knockout of epithelial organogenesis

scientific article published in May 2002

Helsinki alert of biodiversity and health

scientific article published on 23 April 2015

Hemangioblastomas of the retina: impact of von Hippel-Lindau disease

scientific article published on 01 June 2000

Hereditary hearing loss--the role of environmental factors

scientific article published in January 2000

Heterogeneity-based genome search meta-analysis for preeclampsia

scientific article published on 26 July 2006

High-resolution targeted bisulfite sequencing reveals blood cell type-specific DNA methylation patterns in IL13 and ORMDL3

scientific article published on 10 May 2021

High-specificity bioinformatics framework for epigenomic profiling of discordant twins reveals specific and shared markers for ACPA and ACPA-positive rheumatoid arthritis

scientific article

High-throughput mutational screening adds clinically important information in myelodysplastic syndromes and secondary or therapy-related acute myeloid leukemia

scientific article published on 13 March 2015

Homozygosity for the Asn187 gelsolin mutation in Finnish-type familial amyloidosis is associated with severe renal disease

scientific article published on 01 July 1992

Human LUHMES and NES cells as models for studying primary cilia in neurons

scientific article published in 2023

Human Population Genetics: Lessons from Finland ⬇️

scientific article published on January 1, 2001

Human ROBO1 regulates interaural interaction in auditory pathways.

scientific article published in January 2012

Human ROBO1 regulates white matter structure in corpus callosum

scientific article published on 30 May 2016

Human TIMP-3 is expressed during fetal development, hair growth cycle, and cancer progression

scientific article published on April 1998

Human chromosome 7: DNA sequence and biology

scientific article

Human pluripotent reprogramming with CRISPR activators.

scientific article published on 6 July 2018

Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children

scientific article published on 16 November 2017

IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac disease

scientific article

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.

scientific article

Identification of MAMDC1 as a candidate susceptibility gene for systemic lupus erythematosus (SLE)

scientific article

Identification of NCAN as a candidate gene for developmental dyslexia

scientific article published on 24 August 2017

Identification of Novel Transcribed Regions in Zebrafish (Danio rerio) Using RNA-Sequencing

scientific article

Identification of a basolateral Cl-/HCO3- exchanger specific to gastric parietal cells

scientific article

Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea

scientific article (publication date: September 2001)

In Vivo Differentiated Human Embryonic Stem Cells Can Acquire Chromosomal Aberrations More Frequently Than In Vitro During the Same Period

article

Increased YKL-40 and Chitotriosidase in Asthma and Chronic Obstructive Pulmonary Disease

scientific article published on 15 September 2015

Increased expression of the dyslexia candidate gene DCDC2 affects length and signaling of primary cilia in neurons

scientific article

Influence of FLG loss-of-function mutations in host–microbe interactions during atopic skin inflammation

Influence of male sex and parental allergic disease on childhood wheezing: role of interactions

scientific article published in June 2004

Influence of the COMT genotype on working memory and brain activity changes during development

scientific article published on 22 April 2011

Inherited disorders of ion transport in the intestine

scientific article

Interaction between early maternal smoking and variants in TNF and GSTP1 in childhood wheezing

scientific article published in March 2010

Interaction between retinoid acid receptor-related orphan receptor alpha (RORA) and neuropeptide S receptor 1 (NPSR1) in asthma

scientific article

Interaction between variants in the interleukin-4 receptor ? and interleukin-9 receptor genes in childhood wheezing: evidence from a birth cohort study

article

Interactions between glutathione S-transferase P1, tumor necrosis factor, and traffic-related air pollution for development of childhood allergic disease

scientific article published on August 2008

Intracellular signalling pathways and cytoskeletal functions converge on the psoriasis candidate gene CCHCR1 expressed at P-bodies and centrosomes.

scientific article published on 4 June 2018

Intrachromosomal rearrangements fusing L-myc and rlf in small-cell lung cancer

scientific article

Introduction of complementary foods in infancy and atopic sensitization at the age of 5 years: timing and food diversity in a Finnish birth cohort

scientific article published on 15 February 2013

Investigation of rare and low-frequency variants using high-throughput sequencing with pooled DNA samples

scientific article published on 16 September 2016

Investigation of the DCDC2 intron 2 deletion/compound short tandem repeat polymorphism in a large German dyslexia sample

scientific article published in December 2008

Investigatory and analytical approaches to differential gene expression profiling in mantle cell lymphoma

scientific article published in December 2002

Involvement of BRCA1 and BRCA2 in breast cancer in a western Finnish sub-population

scientific article

Isoforms of SLC26A6 mediate anion transport and have functional PDZ interaction domains

scientific article

Isolation of the cystic fibrosis gene

scientific article published in January 1990

Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28

article

Ketogenic diet attenuates hepatopathy in mouse model of respiratory chain complex III deficiency caused by a Bcs1l mutation

scientific article published on 19 April 2017

Kidney kinetics and chloride ion pumps

Lack of association between neuropeptide S receptor 1 gene (NPSR1) and eczema in five European populations

scientific article published in January 2009

Large-Scale Zygosity Testing Using Single Nucleotide Polymorphisms

article by Ulf Hannelius et al published August 2007 in Twin Research and Human Genetics

LifeGene--a large prospective population-based study of global relevance

scientific article

Linkage and linkage disequilibrium in the Finnish disease heritage

scientific article

Linkage and linkage disequilibrium searched for between non-syndromic cleft palate and four candidate loci

scientific article published on June 2003

Linkage mapping of systemic lupus erythematosus (SLE) in Finnish families multiply affected by SLE.

scientific article published in January 2004

Liver X receptor gene polymorphisms and adipose tissue expression levels in obesity

scientific article published on December 2006

Long-range control of expression in yeast

scientific article

Long-term prognosis of haemangioblastoma of the CNS: impact of von Hippel-Lindau disease.

scientific article

MANF protects human pancreatic beta cells against stress-induced cell death

scientific article published on 21 July 2018

MHC2TA is associated with differential MHC molecule expression and susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction

scientific journal article

MMP12, lung function, and COPD in high-risk populations

scientific article

Mapping and identifying genes for asthma and psoriasis

scientific article

Mapping genes for asthma and psoriasis

article

Mapping human chromosomes by walking with sequence-tagged sites from end fragments of yeast artificial chromosome inserts

scientific article

Mapping of five new putative anion transporter genes in human and characterization of SLC26A6, a candidate gene for pancreatic anion exchanger

scientific article

Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34.

scientific article published in October 2001

Maternal and paternal chromosomes 7 show differential methylation of many genes in lymphoblast DNA.

scientific article published on April 2001

Matrix metalloproteinase-21, the human orthologue for XMMP, is expressed during fetal development and in cancer

scientific article

Mechanisms of inactivation of MLH1 in hereditary nonpolyposis colorectal carcinoma: a novel approach

scientific article published on 29 January 2007

Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6.

scientific article

Meta-analysis of 20 genome-wide linkage studies evidenced new regions linked to asthma and atopy

scientific article

Meta-analysis of epigenome-wide association studies in neonates reveals widespread differential DNA methylation associated with birthweight

article

Metabolic and functional changes in transgender individuals following cross-sex hormone treatment: Design and methods of the GEnder Dysphoria Treatment in Sweden (GETS) study

scientific article published on 12 April 2018

Methylation of H19 and its imprinted control region (H19 ICR1) in Müllerian aplasia

scientific article

Microbe-host interplay in atopic dermatitis and psoriasis

scientific article published on 16 October 2019

Microbial and transcriptional differences elucidate atopic dermatitis heterogeneity across skin sites

scientific article published on 01 October 2020

Microsatellite Polymorphism in the Heme Oxygenase-1 Promoter Is Associated With Nonsevere and Late-Onset Preeclampsia

scientific article published on 05 May 2014

Microsatellite diversity and the demographic history of modern humans

scientific article

Mining associations between genetic markers, phenotypes, and covariates

scientific article published in January 2001

Mlh1 deficiency in normal mouse colon mucosa associates with chromosomally unstable colon cancer.

scientific article published in May 2018

Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes.

scientific article

Molecular characterization of chromosome 7 long arm deletions in myeloid disorders

scientific article published on 01 November 1987

Molecular genetic and epigenetic analysis of NCX2/SLC8A2 at 19q13.3 in human gliomas

scientific article

Molecular genetics and molecular biology of dyslexia

scientific article published on 3 February 2011

Molecular networks of DYX1C1 gene show connection to neuronal migration genes and cytoskeletal proteins

scientific article

Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses

scientific article (publication date: June 1997)

Monocytic involvement by monosomy 7 preceded acute myelomonocytic leukemia in a patient with myelodysplastic syndrome

scientific article published on 01 February 1988

Monosomy 7 in Granulocytes and Monocytes in Myelodysplastic Syndrome

Motor function deficits in the estrogen receptor beta knockout mouse: Role on excitatory neurotransmission and myelination in the motor cortex

scientific article published on 28 January 2020

Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland

article

Multiple independent variants in 6q21-22 associated with susceptibility to celiac disease in the Dutch, Finnish and Hungarian populations

scientific article

Multiple polymorphisms affect expression and function of the neuropeptide S receptor (NPSR1).

scientific article

Mutation in CEP63 co-segregating with developmental dyslexia in a Swedish family

scientific article

Mutational analysis of the human SLC26A8 gene: exclusion as a candidate for male infertility due to primary spermatogenic failure

scientific article

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus

scientific article published on 29 July 2007

Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea

scientific article

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

scientific article published on 27 March 2019

Myosin IXB gene region and gluten intolerance: linkage to coeliac disease and a putative dermatitis herpetiformis association

article

Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy

scientific article

NANOG priming before full reprogramming may generate germ cell tumours

scientific article

NET-CAGE characterizes the dynamics and topology of human transcribed cis-regulatory elements

scientific article published on 02 September 2019

NOD-like receptor signaling and inflammasome-related pathways are highlighted in psoriatic epidermis

scientific article published on 15 March 2016

NPSR1 polymorphisms influence recurrent abdominal pain in children: a population-based study

scientific article published on 5 August 2014

Nagashima-type palmoplantar keratosis in Finland caused by a SERPINB7 founder mutation

scientific article published on 07 November 2019

Neuropeptide S (NPS) variants modify the signaling and risk effects of NPS Receptor 1 (NPSR1) variants in asthma

scientific article

Neuropeptide S and G protein-coupled receptor 154 modulate macrophage immune responses

scientific article published on 6 April 2006

Neuropeptide S receptor 1 (NPSR1) activates cancer-related pathways and is widely expressed in neuroendocrine tumors.

scientific article

Neuropeptide S receptor 1 expression in the intestine and skin--putative role in peptide hormone secretion

scientific article

Neuropeptide s receptor 1 gene polymorphism is associated with susceptibility to inflammatory bowel disease

scientific article published on 20 June 2007

New methods in gene mapping

scientific article published in January 1988

No association between the eczema genes COL29A1 and IL31 and inflammatory bowel disease

scientific article published in July 2009

Nocturnal asthma is affected by genetic interactions between RORA and NPSR1

scientific article published on 29 March 2019

Nordic collaborative study of the BARD1 Cys557Ser allele in 3956 patients with cancer: enrichment in familial BRCA1/BRCA2 mutation-negative breast cancer but not in other malignancies

scientific article published on 06 July 2006

Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency

scientific article published on 19 February 2020

Novel PRD-like homeodomain transcription factors and retrotransposon elements in early human development

scientific article

Novel TMEM173 Mutation and the Role of Disease Modifying Alleles

scientific article published on 05 December 2019

Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome

scientific article

Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups.

scientific article published on 15 August 2008

Optimizing bone morphogenic protein 4-mediated human embryonic stem cell differentiation into trophoblast-like cells using fibroblast growth factor 2 and transforming growth factor-β/activin/nodal signalling inhibition

scientific article published on 12 June 2017

Ordered Shotgun Sequencing, a Strategy for Integrated Mapping and Sequencing of YAC Clones

Overview of the SLC26 family and associated diseases

scientific article

P.44 FV Leiden as risk factor for preterm birth – a population-based nested case-control study

article published in 2011

PPP2R1BGene in Chronic Lymphocytic Leukemias and Mantle Cell Lymphomas

Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea.

scientific article published in October 1994

Patterns of matrix metalloproteinase and TIMP-1 expression in chronic and normally healing human cutaneous wounds

scientific article published on 01 July 1996

Patterns of polymorphism and linkage disequilibrium for cystic fibrosis

scientific article published on November 1987

PepT1 oligopeptide transporter (SLC15A1) gene polymorphism in inflammatory bowel disease

scientific article

Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma

scientific article published on 25 February 2020

Phenotyping asthma patients for a gene mapping study in Finland

article

Phenylketonuria screening registry as a resource for population genetic studies

scientific article published in October 2005

Phylogenetic and mutational analyses of human LEUTX, a homeobox gene implicated in embryogenesis

scientific article published in Scientific Reports

Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release

scientific article

Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells

scientific article (publication date: September 2007)

Physical map of an asthma susceptibility locus in 7p15-p14 and an association study of TCRG

Pleomorphic Adenoma Gene 1 Is Needed For Timely Zygotic Genome Activation and Early Embryo Development.

scientific article published on 10 June 2019

Polymorphisms in DCDC2 and S100B associate with developmental dyslexia

scientific article published on 16 April 2015

Polymorphisms in the dopamine receptor 2 gene region influence improvements during working memory training in children and adolescents

scientific article published on 3 September 2013

Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus

scientific article

Polymorphisms of the ITGAM gene confer higher risk of discoid cutaneous than of systemic lupus erythematosus

scientific article

Pool-seq driven proteogenomic database for Group G Streptococcus

scientific article published on 20 April 2019

Population structure in contemporary Sweden--a Y-chromosomal and mitochondrial DNA analysis

scientific article

Population substructure in Finland and Sweden revealed by the use of spatial coordinates and a small number of unlinked autosomal SNPs

scientific article

Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31

article

Positionally cloned susceptibility genes in allergy and asthma

scientific article

Predictors of recurrent cellulitis in five years. Clinical risk factors and the role of PTX3 and CRP.

scientific article published on 15 November 2014

Predisposition to Childhood Otitis Media and Genetic Polymorphisms within the Toll-Like Receptor 4 (TLR4) Locus

scientific article published on 15 July 2015

Preeclampsia does not share common risk alleles in 9p21 with coronary artery disease and type 2 diabetes

scientific article published on 25 April 2016

Prenatal Particulate Air Pollution and DNA Methylation in Newborns: An Epigenome-Wide Meta-Analysis

scientific article published on 31 May 2019

Prenatal diagnosis of X-linked chronic granulomatous disease using restriction fragment length polymorphism analysis

scientific article published on 01 September 1987

Primary cilia promote the differentiation of human neurons through the WNT signaling pathway

scientific article published on 27 February 2024

Primary cilia promote the differentiation of human neurons through the WNT signaling pathway

scientific article published on 6 April 2023

Protective Low-Frequency Variants for Preeclampsia in the Fms Related Tyrosine Kinase 1 Gene in the Finnish Population

scientific article published on 26 June 2017

Psoriasis Susceptibility Locus on 18p Revealed by Genome Scan in Finnish Families Not Associated with PSORS1

ROCK2 allelic variants are not associated with pre-eclampsia susceptibility in the Finnish population

scientific article published on 12 May 2009

Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report

scientific article published on 01 May 2020

Recurrent DNA sequence copy losses on chromosomal arm 6q in capillary hemangioblastoma

scientific article published on 01 March 2002

Recurrent cellulitis with benzathine penicillin prophylaxis is associated with diabetes and psoriasis

article

Reduced CDHR3 expression in children wheezing with rhinovirus

scientific article published on 4 January 2018

Refinement of human chromosome 7 map around the pro alpha 2(I)collagen gene by long-range restriction mapping

scientific article

Regulation of the basolateral chloride/base exchangers AE1 and SLC26A7 in the kidney collecting duct in potassium depletion

scientific journal article

Replication of GWAS-identified systemic lupus erythematosus susceptibility genes affirms B-cell receptor pathway signalling and strengthens the role of IRF5 in disease susceptibility in a Northern European population

scientific article published on 27 October 2011

Research resource: interactome of human embryo implantation: identification of gene expression pathways, regulation, and integrated regulatory networks

scientific article

Restriction site-specific methylation studies of imprinted genes with quantitative real-time PCR.

scientific article

Risk of childhood asthma is associated with CpG-site polymorphisms, regional DNA methylation and mRNA levels at the GSDMB/ORMDL3 locus

scientific article

Rule-based models of the interplay between genetic and environmental factors in childhood allergy

scientific article

SAMstrt: statistical test for differential expression in single-cell transcriptome with spike-in normalization

scientific article published on 31 August 2013

SLC26A2 (diastrophic dysplasia sulfate transporter) is expressed in developing and mature cartilage but also in other tissues and cell types

scientific article (publication date: August 2001)

SLC26A3 mutations in congenital chloride diarrhea

scientific article (publication date: December 2002)

SLC26A6 and SLC26A7 anion exchangers have a distinct distribution in human kidney

scientific article

SLC26A7: a basolateral Cl-/HCO3- exchanger specific to intercalated cells of the outer medullary collecting duct

scientific article (publication date: 2004)

SNP variations in the 7q33 region containing DGKI are associated with dyslexia in the Finnish and German populations.

scientific article published on 4 January 2011

Screening for defined cystic fibrosis mutations by solid-phase minisequencing ⬇️

scholarly article by A Jalanko et al published January 1992 in Clinical Chemistry

Sequence analysis of pooled bacterial samples enables identification of strain variation in group A streptococcus

scientific article

Sequencing of breast cancer stem cell populations indicates a dynamic conversion between differentiation states in vivo

scientific article

Sex specific protective effects of interleukin-9 receptor haplotypes on childhood wheezing and sensitisation

scientific article

Simplified template preparation and improved direct sequencing using Taq polymerase

scientific article published on May 1, 1992

Single-cell RNA-seq analysis reveals the platinum resistance gene COX7B and the surrogate marker CD63

article

Single-cell analysis of human ovarian cortex identifies distinct cell populations but no oogonial stem cells

scientific article published on 02 March 2020

Single-cell transcriptome analysis of endometrial tissue.

scientific article published on 13 February 2016

SkewC: Identifying cells with skewed gene body coverage in single-cell RNA sequencing data

scientific article published on 15 January 2022

Spectrum of mutations in CFTR in Finland: 18 years follow-up study and identification of two novel mutations

scientific article published on 26 July 2005

Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3

scientific article

Stromelysin-2 is Upregulated During Normal Wound Repair and is Induced by Cytokines

Strong genetic evidence of DCDC2 as a susceptibility gene for dyslexia

scientific article

Structure of the human CCG1 gene: relationship between the exons/introns and functional domain/modules of the protein

scientific article

Study of estrogen receptor-α and receptor-β gene polymorphisms on Alzheimer's disease

scientific article published in January 2011

Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients

scientific article published on 14 September 2009

Subpopulation difference scanning: a strategy for exclusion mapping of susceptibility genes

scientific article published on 27 January 2006

Susceptibility loci for preeclampsia on chromosomes 2p25 and 9p13 in Finnish families

scientific article published on 09 December 2002

Swedish population substructure revealed by genome-wide single nucleotide polymorphism data

scientific article published in 2011

TAC-seq: targeted DNA and RNA sequencing for precise biomarker molecule counting

scientific article published in 2018

Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease

scientific article

The CCHCR1 (HCR) gene is relevant for skin steroidogenesis and downregulated in cultured psoriatic keratinocytes

scientific article published on 13 January 2007

The CIDEA gene V115F polymorphism is associated with obesity in Swedish subjects

scientific article

The Hydroxysteroid (17β) Dehydrogenase Family Gene HSD17B12 Is Involved in the Prostaglandin Synthesis Pathway, the Ovarian Function, and Regulation of Fertility.

scientific article published on 4 August 2016

The IL9R region contribution in asthma is supported by genetic association in an isolated population

scientific article (publication date: October 2000)

The PSORS1 locus gene CCHCR1 affects keratinocyte proliferation in transgenic mice

scientific article

The Psoriasis Risk Allele HLA-C*06:02 Shows Evidence of Association with Chronic or Recurrent Streptococcal Tonsillitis

scientific article published on 21 September 2018

The Roots of Autism and ADHD Twin Study in Sweden (RATSS).

scientific article published on 15 April 2014

The SNAP25 gene is linked to working memory capacity and maturation of the posterior cingulate cortex during childhood

scientific article published on 15 October 2010

The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains

scientific article published on November 1997

The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats

scientific journal article

The aromatase gene CYP19A1: several genetic and functional lines of evidence supporting a role in reading, speech and language

scientific article

The association of antibodies to cardiolipin, beta 2-glycoprotein I, prothrombin, and oxidized low-density lipoprotein with thrombosis in 292 patients with familial and sporadic systemic lupus erythematosus

scientific article published in January 2004

The asthma candidate gene NPSR1 mediates isoform specific downstream signalling

scientific article

The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia

scientific article published in October 2005

The complex of TFII-I, PARP1, and SFPQ proteins regulates the DYX1C1 gene implicated in neuronal migration and dyslexia

scientific article

The congenital chloride diarrhea gene is expressed in seminal vesicle, sweat gland, inflammatory colon epithelium, and in some dysplastic colon cells

article

The diagnosis of pre-eclampsia using two revised classifications in the Finnish Pre-eclampsia Consortium (FINNPEC) cohort

scientific article

The dyslexia candidate gene DYX1C1 is a potential marker of poor survival in breast cancer

scientific article

The dyslexia candidate locus on 2p12 is associated with general cognitive ability and white matter structure

scientific article

The effects of the ACE gene insertion/deletion polymorphism on glucose tolerance and insulin secretion in elderly people are modified by birth weight

scientific article published in November 2004

The emerging landscape of dynamic DNA methylation in early childhood

scientific article

The gene defective in anhidrotic ectodermal dysplasia is expressed in the developing epithelium, neuroectoderm, thymus, and bone

scientific article

The gene for congenital chloride diarrhea maps close to but is distinct from the gene for cystic fibrosis transmembrane conductance regulator

scientific article published on November 1993

The human GIMAP5 gene has a common polyadenylation polymorphism increasing risk to systemic lupus erythematosus

scientific article

The human PRD-like homeobox gene LEUTX has a central role in embryo genome activation

scientific article published on 30 August 2016

The human long non-coding RNA gene RMRP has pleiotropic effects and regulates cell-cycle progression at G2

scientific article published on 24 September 2019

The impact of sodium chloride and volume depletion in the chronic kidney disease of congenital chloride diarrhea

article by Satu Wedenoja et al published October 2008 in Kidney International

The molecular genetics and neurobiology of developmental dyslexia as model of a complex phenotype

scientific article

The molecular network of the dyslexia candidate gene DYX1C1 shows connection to neuronal migration genes and cytoskeletal proteins

article

The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia

article

The protective effect of farm animal exposure on childhood allergy is modified by NPSR1 polymorphisms

scientific article published on 19 February 2008

The pruritus- and TH2-associated cytokine IL-31 promotes growth of sensory nerves

scientific article published on 6 April 2016

The role of inflammatory bowel disease susceptibility loci in multiple sclerosis and systemic lupus erythematosus

article

The rs3743205 SNP is important for the regulation of the dyslexia candidate gene DYX1C1 by estrogen receptor β and DNA methylation

scientific article

The use of genotyping as a first step in molecular diagnosis of familial hypercholesterolemia

The zebrafish orthologue of the dyslexia candidate gene DYX1C1 is essential for cilia growth and function

scientific article

The zebrafish transcriptome during early development

scientific article

Three dyslexia susceptibility genes, DYX1C1, DCDC2, and KIAA0319, affect temporo-parietal white matter structure.

scientific article published on 9 June 2012

Timing of infant feeding in relation to childhood asthma and allergic diseases

scientific article published on 22 November 2012

Toxicogenomic Profiling of 28 Nanomaterials in Mouse Airways

scientific article published on 08 March 2021

Transcriptome analysis of controlled and therapy-resistant childhood asthma reveals distinct gene expression profiles

scientific article published on 9 April 2015

Transcriptome analysis reveals upregulation of bitter taste receptors in severe asthmatics

scientific article published on 6 December 2012

Transcriptome profiling of human pre-implantation development

scientific article

Transcriptomic Profiling of JEG-3 cells using human leiomyoma derived matrix

scientific article published in 2022

Transgenic mouse models support HCR as an effector gene in the PSORS1 locus

scientific article

Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population

scientific article

Two Chinese families with pulverulent congenital cataracts and deltaG91 CRYBA1 mutations

scientific article (publication date: 13 July 2007)

Two functional variants of the superoxide dismutase genes in Finnish families with asthma

scientific article published on February 2004

Two translocations of chromosome 15q associated with dyslexia

scientific article published on October 2000

Tyrosine kinase 2 and interferon regulatory factor 5 polymorphisms are associated with discoid and subacute cutaneous lupus erythematosus

scientific article published on 16 September 2009

Ultra-rare mutation in long-range enhancer predisposes to thyroid carcinoma with high penetrance

scientific article

Ultrastructural features resembling those of harlequin ichthyosis in patients with severe congenital ichthyosiform erythroderma

scientific article published on 01 September 2001

Unexpectedly High Prevalence of Common Variable Immunodeficiency in Finland

scientific article published on 28 September 2017

Update on SLC26A3 mutations in congenital chloride diarrhea

scientific article published on 07 June 2011

Upregulation of CFTR expression but not SLC26A3 and SLC9A3 in ulcerative colitis

article

Variant Profiling of Candidate Genes in Pancreatic Ductal Adenocarcinoma

scientific article published on 16 September 2015

Variation in DNA repair genes ERCC2, XRCC1, and XRCC3 and risk of follicular lymphoma

scientific article published in February 2006

Variation in STAT4 is associated with systemic lupus erythematosus in a Finnish family cohort

scientific article published on 27 August 2009

Verification of self-reported asthma and allergy in subjects and their family members volunteering for gene mapping studies

article

Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1

scientific article

Whole-Exome Sequencing Suggests LAMB3 as a Susceptibility Gene for Morbid Obesity.

scientific article published on 18 July 2016

Working memory brain activity and capacity link MAOA polymorphism to aggressive behavior during development

scientific article published on 28 February 2012

X chromosome map at 75-kb STS resolution, revealing extremes of recombination and GC content

scientific article published on March 1997

X-box promoter motif searches: from C. elegans to humans to novel candidate ciliopathies

scientific article published on 13 July 2015

X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

scientific article

Yeast artificial chromosome-based genome mapping: some lessons from Xq24-q28.

scientific article published on December 1991

[About the effect of HUGO (Human Genome Project)]

scientific article published on 01 January 1996

[Congenital chloride diarrhea gene error in the anion transporter protein]

scientific article published on 01 January 1999

[Current status of the human genome project]

scientific article published on 01 January 1993

[Genetics of asthma and atopy--how to interpret results from the candidate gene studies?]

scientific article published on 01 January 2000

[Genome research in year 2000]

scientific article published on 01 January 2000

[Keys to our fate in genetic testing?]

scientific article published on 01 January 2000

[The gene behind asthma has been found--or has it?]

scientific article published on 01 January 2002

[The pathogenesis of psoriasis--investigating the genetics of a multifactorial disease]

scientific article published on 01 January 2003

alpha2-Heremans-Schmid glycoprotein gene polymorphisms are associated with adipocyte insulin action

scientific article published on November 2004

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