List of works - Auli Karhu

7q deletion mapping and expression profiling in uterine fibroids.

scientific article

A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

article

AIP gene in pituitary adenoma predisposition

scientific article published on 01 July 2007

AIP inactivation leads to pituitary tumorigenesis through defective Gαi-cAMP signaling

scientific article published on 24 March 2014

Allelic Imbalance at rs6983267 Suggests Selection of the Risk Allele in Somatic Colorectal Tumor Evolution

scientific article published on 01 January 2008

Analysis of microsatellite variation in Pinus radiata reveals effects of genetic drift but no recent bottlenecks.

scientific article

Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer

scientific article published on 01 July 2009

Aryl hydrocarbon receptor interacting protein mutations seem not to associate with familial non-medullary thyroid cancer

scientific article published on 01 May 2009

Aryl hydrocarbon receptor interacting protein(AIP) gene mutation analysis in children and adolescents with sporadic pituitary adenomas

article

Background Mutation Frequency in Microsatellite-Unstable Colorectal Cancer

scientific article published on 01 June 2007

Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome

scientific article published on 29 July 2014

Comparing EST-based genetic maps between Pinus sylvestris and Pinus taeda.

scientific article

Comprehensive evaluation of coding region point mutations in microsatellite‐unstable colorectal cancer

scientific article published on 14 August 2018

Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42,103 individuals

scientific article published on 05 April 2012

Definition of a minimal region of deletion of chromosome 7 in uterine leiomyomas by tiling-path microarray CGH and mutation analysis of known genes in this region

article

Do molecular markers reflect patterns of differentiation in adaptive traits of conifers?

scientific article published on 01 July 1996

Downregulation of the hedgehog receptor PTCH1 in colorectal serrated adenocarcinomas is not caused by PTCH1 mutations.

scientific article

EXO1 variants occur commonly in normal population: evidence against a role in hereditary nonpolyposis colorectal cancer

scientific article (publication date: 2003)

Eleven candidate susceptibility genes for common familial colorectal cancer

scientific article

Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families

scientific article published on 01 August 2002

Genome-wide allelotyping of 104 Finnish colorectal cancers reveals an excess of allelic imbalance in chromosome 20q in familial cases

scientific article published in April 2003

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer

scientific article

Global metabolomic profiling of uterine leiomyomas.

scientific article

Impact of AIP and inhibitory G protein alpha 2 proteins on clinical features of sporadic GH-secreting pituitary adenomas.

scientific article published in February 2017

Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans

scientific article published on 19 March 2019

Low-penetrance susceptibility variants in familial colorectal cancer

scientific article

Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer

scientific article

Mild pituitary phenotype in 3- and 12-month-old Aip-deficient male mice

scientific article

Mixed lineage kinase 3 gene mutations in mismatch repair deficient gastrointestinal tumours

scientific article

Modeling tumor predisposing FH mutations in yeast: effects on fumarase activity, growth phenotype and gene expression profile.

scientific article published in March 2006

Mutation analysis of inhibitory guanine nucleotide binding protein alpha (GNAI) loci in young and familial pituitary adenomas.

scientific article

Mutation analysis of three genes encoding novel LKB1-interacting proteins, BRG1, STRADalpha, and MO25alpha, in Peutz-Jeghers syndrome

scientific article

Mutation analysis ofMYH11in acute myeloid leukemia

scientific article published on 01 September 2008

Mutations in the circadian gene CLOCK in colorectal cancer

scientific article

NOD23020insC Alone Is Not Sufficient for Colorectal Cancer Predisposition

scientific article published on 01 October 2004

No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome.

scientific article published in June 2010

No evidence for dual role of loss of heterozygosity in hereditary non-polyposis colorectal cancer

article

Preferential amplification ofAURKA 91A (Ile31) in familial colorectal cancers

article

Rapid expansion of microsatellite sequences in pines

scientific article published on 01 February 2000

Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer

article

Screening for germline KCNQ1 and KCNE2 mutations in a set of somatotropinoma patients.

scientific article

Screening for microsatellite instability target genes in colorectal cancers.

scientific article

Somatic mutations and germline sequence variants in patients with familial colorectal cancer.

scientific article

Steroid-involved transcriptional regulation of human genes encoding prostatic acid phosphatase, prostate-specific antigen, and prostate-specific glandular kallikrein

scientific article published on 01 September 1997

Stress-induced expression of a novel variant of human fumarate hydratase (FH).

scientific article published on January 2007

Systematic search for enhancer elements and somatic allelic imbalance at seven low-penetrance colorectal cancer predisposition loci.

scientific article

The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling.

scientific article published on 28 June 2009

Unregulated smooth-muscle myosin in human intestinal neoplasia

scientific article

Whole-Genome Sequencing of Growth Hormone (GH)-Secreting Pituitary Adenomas.

scientific article published on 17 August 2015

List of works by Auli Karhu

7q deletion mapping and expression profiling in uterine fibroids.

A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

AIP gene in pituitary adenoma predisposition

AIP inactivation leads to pituitary tumorigenesis through defective Gαi-cAMP signaling

Allelic Imbalance at rs6983267 Suggests Selection of the Risk Allele in Somatic Colorectal Tumor Evolution

Analysis of microsatellite variation in Pinus radiata reveals effects of genetic drift but no recent bottlenecks.

Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer

Aryl hydrocarbon receptor interacting protein mutations seem not to associate with familial non-medullary thyroid cancer

Aryl hydrocarbon receptor interacting protein(AIP) gene mutation analysis in children and adolescents with sporadic pituitary adenomas

Background Mutation Frequency in Microsatellite-Unstable Colorectal Cancer

Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome

Comparing EST-based genetic maps between Pinus sylvestris and Pinus taeda.

Comprehensive evaluation of coding region point mutations in microsatellite‐unstable colorectal cancer

Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42,103 individuals

Definition of a minimal region of deletion of chromosome 7 in uterine leiomyomas by tiling-path microarray CGH and mutation analysis of known genes in this region

Do molecular markers reflect patterns of differentiation in adaptive traits of conifers?

Downregulation of the hedgehog receptor PTCH1 in colorectal serrated adenocarcinomas is not caused by PTCH1 mutations.

EXO1 variants occur commonly in normal population: evidence against a role in hereditary nonpolyposis colorectal cancer

Eleven candidate susceptibility genes for common familial colorectal cancer

Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families

Genome-wide allelotyping of 104 Finnish colorectal cancers reveals an excess of allelic imbalance in chromosome 20q in familial cases

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer

Global metabolomic profiling of uterine leiomyomas.

Impact of AIP and inhibitory G protein alpha 2 proteins on clinical features of sporadic GH-secreting pituitary adenomas.

Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans

Low-penetrance susceptibility variants in familial colorectal cancer

Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer

Mild pituitary phenotype in 3- and 12-month-old Aip-deficient male mice

Mixed lineage kinase 3 gene mutations in mismatch repair deficient gastrointestinal tumours

Modeling tumor predisposing FH mutations in yeast: effects on fumarase activity, growth phenotype and gene expression profile.

Mutation analysis of inhibitory guanine nucleotide binding protein alpha (GNAI) loci in young and familial pituitary adenomas.

Mutation analysis of three genes encoding novel LKB1-interacting proteins, BRG1, STRADalpha, and MO25alpha, in Peutz-Jeghers syndrome

Mutation analysis ofMYH11in acute myeloid leukemia

Mutations in the circadian gene CLOCK in colorectal cancer

NOD23020insC Alone Is Not Sufficient for Colorectal Cancer Predisposition

No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome.

No evidence for dual role of loss of heterozygosity in hereditary non-polyposis colorectal cancer

Preferential amplification ofAURKA 91A (Ile31) in familial colorectal cancers

Rapid expansion of microsatellite sequences in pines

Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer

Screening for germline KCNQ1 and KCNE2 mutations in a set of somatotropinoma patients.

Screening for microsatellite instability target genes in colorectal cancers.

Somatic mutations and germline sequence variants in patients with familial colorectal cancer.

Steroid-involved transcriptional regulation of human genes encoding prostatic acid phosphatase, prostate-specific antigen, and prostate-specific glandular kallikrein

Stress-induced expression of a novel variant of human fumarate hydratase (FH).

Systematic search for enhancer elements and somatic allelic imbalance at seven low-penetrance colorectal cancer predisposition loci.

The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling.

Unregulated smooth-muscle myosin in human intestinal neoplasia

Whole-Genome Sequencing of Growth Hormone (GH)-Secreting Pituitary Adenomas.