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List of works by Hannes Lohi

A CNGB1 frameshift mutation in Papillon and Phalène dogs with progressive retinal atrophy

scientific article published on 28 August 2013

A COL11A2 mutation in Labrador retrievers with mild disproportionate dwarfism

scientific article

A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy.

scientific article

A Gly98Val mutation in the N-Myc downstream regulated gene 1 (NDRG1) in Alaskan Malamutes with polyneuropathy

scientific article

A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery

scientific article published in 2012

A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions

scientific article published on 29 March 2019

A frameshift mutation in ARMC3 is associated with a tail stump sperm defect in Swedish Red (Bos taurus) cattle

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 mutation in hairless dogs implicates FOXI3 in ectodermal development

scientific article

A mutation in the SUV39H2 gene in Labrador Retrievers with hereditary nasal parakeratosis (HNPK) provides insights into the epigenetics of keratinocyte differentiation

scientific article

A non-targeted metabolite profiling pilot study suggests that tryptophan and lipid metabolisms are linked with ADHD-like behaviours in dogs.

scientific article

A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds

scientific article

A novel GUSB mutation in Brazilian terriers with severe skeletal abnormalities defines the disease as mucopolysaccharidosis VII

scientific article

A novel KRT71 variant in curly-coated dogs

scientific article published on 19 November 2018

A novel form of progressive retinal atrophy in Swedish vallhund dogs

scientific article published on 8 September 2014

A novel genomic region on chromosome 11 associated with fearfulness in dogs

scientific article published on 28 May 2020

A novel missense mutation in ADAMTS10 in Norwegian Elkhound primary glaucoma

scientific article published on 5 November 2014

A novel mutation in the maternally imprinted PEG3 domain results in a loss of MIMT1 expression and causes abortions and stillbirths in cattle (Bos taurus).

scientific article

A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome

scientific article

A putative silencer variant in a spontaneous canine model of retinitis pigmentosa

scientific article published on 09 March 2020

A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers.

scientific article

ADAM23 is a common risk gene for canine idiopathic epilepsy

scientific article

ADAMTS17 mutation associated with primary lens luxation is widespread among breeds

scientific article published on 3 August 2011

ANLN truncation causes a familial fatal acute respiratory distress syndrome in Dalmatian dogs

scientific article

Absence Seizures as a Feature of Juvenile Myoclonic Epilepsy in Rhodesian Ridgeback Dogs.

scientific article published on 30 November 2017

Age, breed, sex and diet influence serum metabolite profiles of 2000 pet dogs

scientific article published on 16 February 2022

Aggressive behaviour is affected by demographic, environmental and behavioural factors in purebred dogs

scientific article published on 03 May 2021

Altered Expression of MLH1, MSH2, and MSH6 in Predisposition to Hereditary Nonpolyposis Colorectal Cancer

scientific article published in October 2003

An intronic LINE-1 insertion in MERTK is strongly associated with retinopathy in Swedish Vallhund dogs.

scientific article published on 16 August 2017

AnADAMTS17Splice Donor Site Mutation in Dogs with Primary Lens Luxation

scientific article published in September 2010

AncesTrim - a tool for trimming complex pedigrees

scientific article published on 8 March 2017

Ancestral T-box mutation is present in many, but not all, short-tailed dog breeds

scientific article published on 14 October 2008

Applications and efficiencies of the first cat 63K DNA array.

scientific article published on 4 May 2018

Assembly and Analysis of Unmapped Genome Sequence Reads Reveal Novel Sequence and Variation in Dogs

scientific article published in Scientific Reports

Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3).

scientific article

Assessment of the functionality of genome-wide canine SNP arrays and implications for canine disease association studies

scientific article published on 11 November 2010

Association between dog ownership and type 2 diabetes in later life: the Helsinki birth cohort study

scientific article published on 01 December 2019

Association of Doberman hepatitis to canine major histocompatibility complex II.

scientific article published on 12 October 2010

Association of a dog leukocyte antigen class II haplotype with hypoadrenocorticism in Nova Scotia Duck Tolling Retrievers

scientific article published on 28 January 2010

Association study reveals novel risk loci for sporadic inclusion body myositis.

scientific article

Author Correction: Applications and efficiencies of the first cat 63K DNA array.

scientific article published on 4 June 2018

Author Correction: Assembly and Analysis of Unmapped Genome Sequence Reads Reveal Novel Sequence and Variation in Dogs

scientific article published in Scientific Reports

Balancing selection and heterozygote advantage in major histocompatibility complex loci of the bottlenecked Finnish wolf population.

scientific article published on February 2014

Basal Autophagy Is Altered in Lagotto Romagnolo Dogs with an ATG4D Mutation.

scientific article

Behavioral Abnormalities in Lagotto Romagnolo Dogs with a History of Benign Familial Juvenile Epilepsy: A Long-Term Follow-Up Study

scientific article published on 06 May 2015

Benign Familial Juvenile Epilepsy in Lagotto Romagnolo Dogs

scientific article published in 2007

Benign familial juvenile epilepsy in Lagotto Romagnolo dogs

scientific article

Breed differences in natriuretic peptides in healthy dogs.

scientific article published on 3 February 2014

Breed differences of heritable behaviour traits in cats

scientific article published on 28 May 2019

Canine DVL2 variant contributes to brachycephalic phenotype and caudal vertebral anomalies

scientific article published on 18 February 2021

Canine MPV17 truncation without clinical manifestations

scientific article published on 9 September 2015

Canine chondrodysplasia caused by a truncating mutation in collagen-binding integrin alpha subunit 10.

scientific article

Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants.

scientific article published on 15 March 2019

Canine models of human rare disorders

scientific article published on 28 September 2016

Characterisation of canine KCNIP4: A novel gene for cerebellar ataxia identified by whole-genome sequencing two affected Norwegian Buhund dogs

scientific article published on 30 January 2020

Characteristics of epileptic episodes in UK dog breeds: an epidemiological approach

scientific article published on 27 June 2011

Clinical and Genetic Findings in 26 Italian Patients with Lafora Disease

scientific article published in March 2006

Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients

scientific article published in December 2006

Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients

article

Conditional nuclear localization of hMLH3 suggests a minor activity in mismatch repair and supports its role as a low-risk gene in HNPCC.

scientific article

Correction: Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs

scientific article published in January 2019

Critical evaluation of the use of dogs in biomedical research and testing in Europe.

scientific article published in January 2011

Deep sequencing of a candidate region harboring the SOX9 gene for the canine XX disorder of sex development

scientific article published on 17 January 2017

Diagnostic Utility of Wireless Video-Electroencephalography in Unsedated Dogs.

scientific article published on 31 July 2017

Disease progression and treatment response of idiopathic epilepsy in Australian Shepherd dogs

scientific article

Dog Ownership from a Life Course Perspective and Leisure-time Physical Activity in Late Adulthood: The Helsinki Birth Cohort Study

scientific article published in November 2018

Dog colour patterns explained by modular promoters of ancient canid origin

scientific article published on 12 August 2021

Domesticated Animal Biobanking: Land of Opportunity. ⬇️

scientific article

Early Life Experiences and Exercise Associate with Canine Anxieties

scientific article published on 3 November 2015

Early weaning increases aggression and stereotypic behaviour in cats

scientific article published on 4 September 2017

Early-onset Lafora body disease

scientific article

Ectopic KIT copy number variation underlies impaired migration of primordial germ cells associated with gonadal hypoplasia in cattle (Bos taurus)

scientific article

Effect of Breed on Plasma Endothelin-1 Concentration, Plasma Renin Activity, and Serum Cortisol Concentration in Healthy Dogs

scientific article published on 27 January 2016

Environmental effects on compulsive tail chasing in dogs

scientific article (publication date: 2012)

Evaluation of DLA promoters in Doberman hepatitis

scientific article published on 13 November 2011

Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers

scientific article published on 11 July 2017

Exonic mutations in the L2HGDH gene in Staffordshire bull terriers.

scientific article published in September 2010

Expanded repeat in canine epilepsy

scientific article

Exploration of known stereotypic behaviour-related candidate genes in equine crib-biting

article

Expression of Foxi3 is regulated by ectodysplasin in skin appendage placodes

scientific article published on 9 April 2013

Extent of linkage disequilibrium in the domestic cat, Felis silvestris catus, and its breeds

scientific article published on 7 January 2013

FEELnc: a tool for long non-coding RNA annotation and its application to the dog transcriptome

scientific article

Fearful dogs have increased plasma glutamine and γ-glutamyl glutamine

scientific article published in Scientific Reports

Feline toxoplasmosis in Finland: cross-sectional epidemiological study and case series study

scientific article

Fetal growth restriction caused by MIMT1 deletion alters brain transcriptome in cattle

scientific article published on 29 May 2013

Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs.

scientific article published on 30 April 2018

Functional Significance and Clinical Phenotype of Nontruncating Mismatch Repair Variants of MLH1

scientific article published in August 2005

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

Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1

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

Genetic Disorders of Membrane Transport III. Congenital chloride diarrhea

scientific article

Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders.

scientific article

Genetic diagnosis in Lafora disease: Genotype-phenotype correlations and diagnostic pitfalls

scientific article published on 26 March 2007

Genetic diversity in the modern horse illustrated from genome-wide SNP data

scientific article (publication date: 2013)

Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats

scientific article published in 2022

Genetic rescue of an endangered domestic animal through outcrossing with closely related breeds: A case study of the Norwegian Lundehund ⬇️

scientific article

Genetics of canine anal furunculosis in the German shepherd dog.

scientific article published on 14 March 2014

Genetics of neurological disease in the dog

article

Genome-Wide Association Study in Dachshund: Identification of a Major Locus Affecting Intervertebral Disc Calcification

scientific article published on 16 August 2011

Genome-wide analysis reveals selection for important traits in domestic horse breeds.

scientific article published on 17 January 2013

Genome-wide association mapping identifies multiple loci for a canine SLE-related disease complex

article

Genome-wide association study identifies a novel canine glaucoma locus

scientific article published on 7 August 2013

Genome-wide association study in mice identifies loci affecting liver-related phenotypes including Sel1l influencing serum bile acids

scientific article published on 9 February 2016

Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency

scientific article

Globin mRNA reduction for whole-blood transcriptome sequencing

scientific article published on 12 August 2016

Glycogen metabolism in tissues from a mouse model of Lafora disease

scientific article published on 3 November 2006

Health and Behavioral Survey of over 8000 Finnish Cats

scientific article published on 29 August 2016

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

scientific article

Identification of a common risk haplotype for canine idiopathic epilepsy in the ADAM23 gene

scientific article published on 18 June 2015

Identification of a novel idiopathic epilepsy locus in Belgian Shepherd dogs

scientific article

Identification of genomic regions associated with phenotypic variation between dog breeds using selection mapping

scientific article

In frame exon skipping in UBE3B is associated with developmental disorders and increased mortality in cattle

scientific article

Increased expression of MERTK is associated with a unique form of canine retinopathy

scientific article published on 17 December 2014

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.

scientific article

Interbreed variation in serum serotonin (5-hydroxytryptamine) concentration in healthy dogs

scientific article published in August 2018

Interbreed variation of biomarkers of lipid and glucose metabolism in dogs

scientific article published in December 2018

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

scientific article published on 16 September 2016

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

scientific article

LGI2 truncation causes a remitting focal epilepsy in dogs

scientific article

LUPA: a European initiative taking advantage of the canine genome architecture for unravelling complex disorders in both human and dogs

scientific article published on 12 July 2011

Lafora progressive Myoclonus Epilepsy mutation database-EPM2A and NHLRC1 (EPM2B) genes

scientific article

Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy

scientific article published on 21 April 2004

MHC class II polymorphism is associated with a canine SLE-related disease complex

scientific article

MHC class II risk haplotype associated with canine chronic superficial keratitis in German Shepherd dogs

scientific article published on 18 November 2010

MHC variability supports dog domestication from a large number of wolves: high diversity in Asia

scientific article (publication date: 2013)

MKLN1 splicing defect in dogs with lethal acrodermatitis.

scientific article published on 22 March 2018

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

scientific article

Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease.

scientific article published in May 2018

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

scientific article

Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss

scientific article published in 2021

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

scientific article

Multiple Changes of Gene Expression and Function Reveal Genomic and Phenotypic Complexity in SLE-like Disease

scientific article published on 9 June 2015

Mutation in HSF4 is associated with hereditary cataract in the Australian Shepherd

scientific article published on November 2009

Myotonia congenita in a Labrador Retriever with truncated CLCN1

scientific article published in July 2018

NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia

scientific article published on 03 September 2019

No evidence of prenatal diversifying selection at locus or supertype levels in the dog MHC class II loci

scientific article published on 18 November 2016

Non-targeted metabolite profiling reveals changes in oxidative stress, tryptophan and lipid metabolisms in fearful dogs

scientific article

Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs

scientific article

Novel Locus Associated with Symmetrical Lupoid Onychodystrophy in the Bearded Collie

scientific article published on 22 August 2019

Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy

scientific article

Novel origins of copy number variation in the dog genome

scientific article

Novel protective and risk loci in hip dysplasia in German Shepherds

scientific article published on 19 July 2019

Novel splicing associations of hereditary colon cancer related DNA mismatch repair gene mutations.

scientific article

On the road to tractability: the current biochemical understanding of progressive myoclonus epilepsies

scientific article

Out of southern East Asia: the natural history of domestic dogs across the world

scientific article published in January 2016

Paroxysmal Dyskinesia in Border Terriers: Clinical, Epidemiological, and Genetic Investigations.

scientific article published in July 2017

Personality traits associate with behavioral problems in pet dogs

scientific article published in 2022

Phenotype, inheritance characteristics, and risk factors for idiopathic epilepsy in Finnish Spitz dogs

scientific article published in October 2013

Phosphorylation prevents polyglucosan transport in Lafora disease

scientific article published on 23 May 2012

Prevalence, comorbidity, and behavioral variation in canine anxiety

scientific article published in November 2016

Prevalence, comorbidity, and breed differences in canine anxiety in 13,700 Finnish pet dogs

scientific article published on 05 March 2020

Recessive missense LAMP3 variant associated with defect in lamellar body biogenesis and fatal neonatal interstitial lung disease in dogs

scientific article published on 09 March 2020

Regional occurrence, high frequency but low diversity of mitochondrial DNA haplogroup d1 suggests a recent dog-wolf hybridization in Scandinavia

scientific article

Reliability and Validity of Seven Feline Behavior and Personality Traits

scientific article published in 2021

Reliability and validity of a questionnaire survey in canine anxiety research

scientific article published in June 2014

Restoring mismatch repair does not stop the formation of reciprocal translocations in the colon cancer cell line HCA7 but further destabilizes chromosome number

scientific article

Risk of anal furunculosis in German shepherd dogs is associated with the major histocompatibility complex

scientific article published on 10 November 2007

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

scientific article

Sacred disease secrets revealed: the genetics of human epilepsy

scientific article

Segregation of point mutation heteroplasmy in the control region of dog mtDNA studied systematically in deep generation pedigrees.

scientific article

Seizure frequency discrepancy between subjective and objective ictal electroencephalography data in dogs

scientific article published on 18 May 2021

Skin microbiota and allergic symptoms associate with exposure to environmental microbes.

scientific article published on 23 April 2018

TSEN54 missense variant in Standard Schnauzers with leukodystrophy

scientific article published on 04 October 2019

The Endo-Lysosomal System of Brain Endothelial Cells Is Influenced by Astrocytes In Vitro.

scientific article published on 20 March 2018

The Shepherds' Tale: A Genome-Wide Study across 9 Dog Breeds Implicates Two Loci in the Regulation of Fructosamine Serum Concentration in Belgian Shepherds

scientific article published on 13 May 2015

The canine era: the rise of a biomedical model

scientific article published on 21 June 2016

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

article

The effect of a pressure vest on the behaviour, salivary cortisol and urine oxytocin of noise phobic dogs in a controlled test

scientific article published in December 2016

The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter

scientific article

Thoracic high resolution CT using the modified VetMousetrap™ device is a feasible method for diagnosing canine idiopathic pulmonary fibrosis in awake West Highland White Terriers

scientific article published on 07 June 2019

Toxoplasma gondii seroprevalence varies by cat breed

scientific article published on 8 September 2017

Truncation of MIMT1 gene in the PEG3 domain leads to major changes in placental gene expression and stillbirth in cattle.

scientific article published in June 2012

Two MC1R loss-of-function alleles in cream-coloured Australian Cattle Dogs and white Huskies

scientific article published on 22 June 2018

Two novel genomic regions associated with fearfulness in dogs overlap human neuropsychiatric loci

scientific article published on 17 January 2019

Unlocking the genetic make-up of canine hip dysplasia: We can work it out

scientific article published in August 2009

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

article

Urban environment predisposes dogs and their owners to allergic symptoms

scientific article published on 25 January 2018

Variation in genes related to cochlear biology is strongly associated with adult-onset deafness in border collies

scientific article

Whole Genome Sequencing Indicates Heterogeneity of Hyperostotic Disorders in Dogs

scientific article published on 04 February 2020

Whole Genome Sequencing of Giant Schnauzer Dogs with Progressive Retinal Atrophy Establishes NECAP1 as a Novel Candidate Gene for Retinal Degeneration.

scientific article

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