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research Prevalence of CYP21 mutations and IRS1 variant among women with polycystic ovary syndrome and adrenal androgen excess

40 citations , February 2005 in “Fertility and Sterility”

Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.

research Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay

21 citations , January 2018 in “PLoS Genetics”

Certain genetic variants in keratins increase the risk of tooth decay.

Association of Gly972Arg Variant of Insulin Receptor Substrate-1 and Gly1057Asp Variant of Insulin Receptor Substrate-2 with Polycystic Ovary Syndrome in the Chinese Population

research Association of Gly972Arg variant of insulin receptor subtrate-1 and Gly1057Asp variant of insulin receptor subtrate-2 with polycystic ovary syndrome in the Chinese population

10 citations , October 2014 in “Journal of Ovarian Research”

The IRS-2 Asp/Asp genotype may increase the risk of PCOS in Chinese women, especially if they are not obese.

research The pediatric origins of polycystic ovary syndrome

January 2001 in “Cambridge University Press eBooks”

Early signs of PCOS in girls, like irregular periods and polycystic ovaries, suggest a need for early diagnosis and intervention to prevent further health issues.

research Seasonality,.Climatic.Unpredictability,.Food. Deprivation,.and.Polycystic.Ovary.Syndrome

June 2008 in “CRC Press eBooks”

PCOS may have evolved as an advantage in past environments with food scarcity.

research GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis

January 2026 in “Animal Genetics”

A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.

research Localized variant of junctional epidermolysis bullosa with R795X mutation

January 2025 in “Dermatology Reports”

Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.

research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot

April 2026 in “Human Genome Variation”

The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.

research Identification and expression of the target gene SLC24A2 of oar-miR-377 and its novel SNPs effects on wool traits in sheep

March 2024 in “Research Square (Research Square)”

The TT genotype of a specific SNP in sheep is linked to better wool quality.

research MOESM1 of A missense variant in the coil1A domain of the keratin 25 gene is associated with the dominant curly hair coat trait (Crd) in horse

January 2017

research Two familial cases of Olmsted-like syndrome with a G573V mutation of theTRPV3gene

12 citations , June 2016 in “Clinical and experimental dermatology”

A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.

research Variation in the Exon 3–4 Region of Ovine KRT85 and Its Effect on Wool Traits

1 citations , August 2024 in “Animals”

KRT85 gene variations can help improve wool traits in sheep through selective breeding.

research A new mutation Rim3 resembling Re den is mapped close to retinoic acid receptor alpha (Rara) gene on mouse Chromosome 11

76 citations , January 1998 in “Mammalian Genome”

research The Region Coding for the Helix Termination Motif and the Adjacent Intron 6 of the Human Type I Hair Keratin Gene hHa2 Contains Three Natural, Closely Spaced Polymorphic Sites

6 citations , March 1996 in “Journal of Investigative Dermatology”

research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA, Associated With Nevus Trichilemmocysticus

March 2025 in “American Journal of Medical Genetics Part A”

A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.

research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome

2 citations , January 2022 in “The Application of Clinical Genetics”

A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.

research Polymorphism of keratin-associated protein (KAP) 7 gene and its association with wool traits in Rambouillet sheep

3 citations , May 2018 in “The Indian Journal of Animal Sciences”

The KAP 7 gene affects wool traits in Rambouillet sheep, with the BB genotype showing the best wool characteristics.

research Pseudallescheria boydii infection associated with IgG4-related disease

3 citations , September 2022 in “European Journal of Dermatology”

This study focused on a family with Junctional epidermolysis bullosa (JEB), a rare genetic disorder, to confirm their diagnosis and identify the pathogenic variant. Researchers collected clinical data and DNA from family members, utilizing whole-exome sequencing and Sanger sequencing to detect gene variants. They discovered a novel splice-site variant (c.629-12T>G) in the LAMB3 gene present in all patients, confirming it as a pathogenic variant. The study concluded that diagnosing JEB should rely on gene sequencing, as splice site variants can also lead to the disease.

research Identification and Expression of the Target Gene SLC24A2 of oar-miR-377 and Its Novel SNPs Effects on Wool Traits in Sheep

January 2024 in “Kafkas Universitesi Veteriner Fakultesi Dergisi”

A specific genetic variation affects wool quality in sheep.

research Genome-based analysis of the genetic pattern of black sheep in Qira sheep

4 citations , February 2025 in “BMC Genomics”

Black wool in Qira sheep is linked to specific gene mutations, especially in the TYRP1 gene.

Association of Autoimmune Regulator Gene Rs2075876 Variant, but Not Gene Expression, with Alopecia Areata in Males: A Case-Control Study

research Association of Autoimmune Regulator Gene Rs2075876 Variant, but Not Gene Expression with Alopecia Areata in Males: A Case–control Study

8 citations , October 2019 in “Immunological investigations”

The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.

research Polymorphism of Keratin Gene KRT71 and Its Relationship with Wool Properties in Gansu Alpine Fine-Wool Sheep

July 2025 in “Animals”

The GG genotype of the KRT71 gene leads to longer wool in Gansu alpine fine-wool sheep.

research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother

January 2026 in “American Journal of Medical Genetics Part A”

A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.

research Identification of the Ovine Keratin-Associated Protein 26-1 Gene and Its Association with Variation in Wool Traits

29 citations , September 2017 in “Genes”

Selecting specific KRTAP26-1 gene variants can improve wool quality in sheep.

research Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations: Krt71 rco12 and Krt71 rco13

51 citations , December 2006 in “Mammalian Genome”

research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient

January 2022 in “International journal of dermatology and venereology”

A Chinese man with KID syndrome had a new mutation in the GJB2 gene.

research Variation in the ovine keratin-associated protein 15-1 gene affects wool yield

18 citations , September 2018 in “The Journal of Agricultural Science”

Genetic variation in the KRTAP15-1 gene affects wool yield in sheep.