November 2025 in “Journal of Investigative Dermatology” This study identified nine pathogenic variants in the PADI3 gene and variants in the S100A3 and TCHH genes in patients with central centrifugal cicatricial alopecia, suggesting a broader genetic basis for the disease and potential targets for genetic testing and therapies.
47 citations
,
July 1998 in “Journal of Investigative Dermatology” A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
January 2019 in “Przegląd Dermatologiczny” This case report describes an 87-year-old woman diagnosed with type 3 autoimmune polyendocrine syndrome, highlighting the importance of recognizing and managing coexisting autoimmune conditions.
This study found significant differences in mRNA and miRNA expression between yak dermal papilla cells and epidermal hair matrix cells, suggesting important roles for these molecules in hair follicle development.
7 citations
,
March 2011 in “Hormone and Metabolic Research” This study found that in PCOS patients, variations in the lipin 1 gene, particularly the intron 1 SNP, may protect against insulin resistance and glucose intolerance, highlighting a potential genetic factor in the disorder's cardiometabolic complications.
28 citations
,
November 2018 in “American Journal of Medical Genetics Part A” This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.
20 citations
,
June 2010 in “Genes and Immunity” This study found distinct gene expression patterns in the blood of alopecia areata patients, suggesting involvement of immune processes and new pathways like Wnt signaling and apoptosis in disease pathogenesis.
43 citations
,
April 2010 in “Clinical genetics” This study identified four novel mutations in the C2orf37 gene among Woodhouse–Sakati syndrome patients, doubling known mutations, and found no significant link between isolated symptoms like deafness and dystonia and these mutations.
1 citations
,
May 2004 in “Biochemical and Biophysical Research Communications” This study identified nine novel KRTAP5 family genes associated with human hair formation, demonstrating preferential expression in hair roots and suggesting their role in hair development.
6 citations
,
April 2021 in “NAR Genomics and Bioinformatics” This study found extensive co-evolution of polyglutamine repeat lengths in neural protein clusters, highlighting their potential role in neurocognitive variation and neuropsychiatric disease development.
This study identified a new gene in sheep, KRTAP36-2, discovering variants associated with wool yield. Variations in this gene were linked to the efficiency of fleece conversion from greasy to clean, which may enhance wool production.
1 citations
,
April 2024 in “Animal Genetics” This study described an Appenzeller Mountain Dog with clinical signs of an NSDHL defect, discovering a large heterozygous de novo deletion spanning the entire NSDHL gene through whole genome sequencing.
15 citations
,
August 2019 in “F1000Research” This review discusses the physiological roles of anthrax toxin receptors CMG2 and TEM8, highlighting their influence on extracellular matrix homeostasis, angiogenesis, cell migration, and skin elasticity, and reports no new clinical results.
12 citations
,
July 2016 in “British journal of dermatology/British journal of dermatology, Supplement” This study observed phenotypic diversity in hair loss among Japanese individuals homozygous for the LIPH c.736T>A mutation and suggests that differences in hair thickness may contribute to varying severities.
1 citations
,
October 2025 in “Journal of Allergy and Clinical Immunology” A JAK1 variant causes hair loss, skin issues, and thyroid disease, but treatment with a specific inhibitor can help.
2 citations
,
March 2024 in “Pediatric Dermatology” This case report described two siblings with uncombable hair syndrome characterized by unique hair features, and identified a new pathogenic variant in the PADI3 gene (c.1374dup; p. Val459ArgfsTer15) not previously documented.
26 citations
,
May 2013 in “British Journal of Dermatology” This study provides evidence that a polygenic component contributes to the heritable risk for androgenetic alopecia, indicating the need for further research to identify the complex biological pathways involved.
February 2024 in “BMC genomics” This study identified a gene variant in the TRPV3 gene that may explain the suri alpaca phenotype, characterized by longer and less crimped fleece, suggesting this variant's involvement in the development of these hair characteristics compared to the huacaya phenotype.
April 2023 in “Anatomy Physiology & Biochemistry International Journal” This study identified specific genetic variations associated with polycystic ovarian syndrome in Karnataka, which may help improve diagnosis and treatment.
16 citations
,
September 2015 in “International Journal of Molecular Sciences” In this study, a genetic analysis identified a pathogenic variant in the ALOXE3 gene associated with non-bullous congenital ichthyosiform erythroderma, and the patient's response to antifungal treatment highlights the risk of cutaneous fungal infections.
43 citations
,
December 2020 in “PLOS Genetics” This study used a new statistical approach, PLACO, to identify several novel shared genetic regions associated with both Type 2 Diabetes and Prostate Cancer in two large GWAS datasets.
This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.
56 citations
,
July 2004 in “Mechanisms of Development” Pax9 is crucial for proper tongue surface development and preventing skin-like changes.
23 citations
,
December 2017 in “Scientific Reports” This study found that the ARL15 gene affects adipocyte differentiation and adiponectin secretion, and suggests that ARL15 haploinsufficiency may predispose individuals to lipodystrophy.
December 2023 in “American journal of medical genetics. Part A” In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.
September 2024 in “Frontiers in Genetics” In this study, researchers found a significant association between the rs13405699 SNP at 2q31.1 and male pattern baldness among Han Chinese men, suggesting genetic influence on this condition in this population.
December 2023 in “Clinical Cosmetic and Investigational Dermatology” This case report describes an 8-year-old boy in Saudi Arabia diagnosed with IFAP syndrome, highlighting its distinct characteristics and distinguishing features from similar conditions, and notes successful genetic confirmation of the disorder.
December 2017 in “Journal of Cosmetic Dermatology” This article does not contain an abstract, so it provides no new research findings or clinical results.
5 citations
,
February 2019 in “The New England Journal of Medicine” This article discusses the composition and function of the dermal papilla in hair follicles, focusing on its role in hair shaft generation and suggesting that cell loss in this area may contribute to hair loss.
16 citations
,
January 2018 in “Advances in experimental medicine and biology” This review discusses the diversity of keratins and keratin-associated proteins in wool and hair, noting significant variation in their families, with no new results reported; the authors detail known protein structures without experimental findings.