309 citations
,
June 2001 in “Molecular and Cellular Endocrinology” Mutations in the androgen receptor gene cause androgen insensitivity, leading to female traits in genetically male individuals.
March 2026 in “Pigment Cell & Melanoma Research” At a workshop highlighted during the 2025 ESPCR meeting, researchers discussed the challenges and variability in culturing skin-related cells, identifying key factors such as media composition and species differences that affect experimental reproducibility, and emphasized the importance of transparent practices to advance pigment cell research.
6 citations
,
June 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that human centromeric regions exhibit large-scale haplotypes with significant diversity, including entire Neanderthal haplotypes, which may affect chromosome transmission.
34 citations
,
November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
73 citations
,
December 2015 in “Nature Genetics” This study found that the Dun camouflage color in horses is due to TBX3 expression, which causes uneven pigment deposition, whereas non-dun coat colors result from regulatory mutations affecting TBX3 expression.
33 citations
,
September 2017 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes woolly hair and hair loss.
27 citations
,
November 2007 in “Genomics” This study found that mutations in type I IRS keratin genes disrupt keratin protein complexes in mice, suggesting crucial roles for these genes in proper hair coat formation.
17 citations
,
May 2018 in “BMC genomics” This study found that miR-432 inhibits KRT83 expression, revealing potential molecular mechanisms for the formation of curly fleece in Tan sheep and suggesting implications for understanding curly hair formation in humans.
10 citations
,
September 2022 in “Animals” This research identified 18 significant SNPs and several candidate genes associated with udder conformation traits in Holstein cattle, providing insights into their genetic architecture.
5 citations
,
November 2022 in “Genetics selection evolution” This study found that low-coverage whole-genome sequencing followed by imputation effectively identifies genetic variants associated with wool traits in Angora rabbits, offering a cost-efficient method for genetic research and breeding.
2 citations
,
December 2025 in “Annals of Medicine” This review discusses the complex correlation between cellular senescence and PCOS, emphasizing senescence markers, mechanisms, and potential anti-senescence therapies, but reports no new clinical results.
2 citations
,
December 2024 in “BMC Genomics” In this study, researchers used transcriptome sequencing and bioinformatics analysis to identify important genes and pathways involved in the transition between hair growth phases, offering new insights into hair follicle cycle regulation and development.
2 citations
,
May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study describes a family where a TP63 mutation was linked with prominent alopecia and mild ectodermal dysplasia features.
1 citations
,
November 2025 in “Science Advances” This research identified two genetic variants that influence the white-spotted coat patterns in Holstein-Friesian cattle, involving regulatory changes in the MITF and KIT genes, confirmed through mouse models, along with possible effects on coat patterns in other cattle breeds.
1 citations
,
January 2023 in “Frontiers in genetics” This study identified specific genetic markers related to wool quality in Rambouillet sheep, which may aid breeders in making informed selection and breeding decisions for improved fine wool production.
February 2026 in “Small Ruminant Research” This study found that specific genetic variations in the IRF2BP2 gene influence fleece structure in sheep, with one variant completely determining coat type and another significantly modifying fiber characteristics, providing valuable insights for improving fleece quality through selective breeding.
February 2024 in “New phytologist” This study reported that during wheat polyploidization, decreased DNA methylation and specific hypomethylated promoters were associated with altered gene transcription, contributing to root hair elongation and improved nitrate uptake, highlighting the role of epigenetic regulation in enhancing crop traits.
October 2023 in “IJEM case reports” This case report describes the diagnosis and management of a 15-year-old girl with complete androgen insensitivity syndrome, highlighting the importance of thorough physical exams for early detection and treatment planning.
717 citations
,
June 2010 in “Nature” This study identified key genetic regions associated with alopecia areata, highlighting both acquired and innate immune involvement, with a novel link to the upregulation of ULBP ligands in autoimmune disease.
191 citations
,
December 2003 in “Journal of Investigative Dermatology” Male pattern baldness is largely genetic, linked to the androgen receptor gene, and may relate to certain health issues.
152 citations
,
April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” This study presents evidence that keratitis–ichthyosis–deafness syndrome is caused by a mutation in the connexin 26 gene, expanding the gene's known involvement in various disorders.
133 citations
,
January 2009 in “Nature” This study identified gene expression patterns in a mouse model that may influence tumor susceptibility and tissue functions related to inflammation and cell proliferation, highlighting Lgr5 and the vitamin D receptor as key regulators.
January 2022 in “Mammalian Genome” This study found that the wavy coat trait in Nakano cataract mice is polygenic, involving major and minor genes, and resembles human curly scalp hair associated with the PRSS53 gene alteration.
July 2005 in “The American Journal of Human Genetics” The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
5 citations
,
December 2014 in “Molecular cytogenetics” This study identified a 290 Kb microduplication in chromosome 1q22 in a family with members exhibiting neurodevelopmental disorders, suggesting a link between this genetic alteration and the observed neurological symptoms.
89 citations
,
June 2012 in “Anais Brasileiros de Dermatologia” This review compiles epidemiological data on actinic keratoses and suggests promoting strategies like early diagnosis and photoprotection to prevent progression to skin cancer, but it reports no new clinical findings.
81 citations
,
March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
46 citations
,
August 2020 in “International Journal of Genomics” This review examines over 271 candidate genes associated with economic traits in goats, highlighting their potential use in genetic markers and future breeding programs, and reports no new experimental results.
41 citations
,
July 2018 in “Frontiers in Neurology” This study suggests that myotonic dystrophies may qualify as segmental progeroid disorders due to molecular and clinical similarities with typical progeroid syndromes.
29 citations
,
August 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes cause the rare hair disorder monilethrix.