29 citations
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January 2021 in “G3 Genes Genomes Genetics” This study identified a 195 bp duplication in crested chickens that causes large crest feathers and can be associated with cerebral hernia in some breeds, but not all.
March 2024 in “Research Square (Research Square)” This study found that a combined genotypic and phenotypic reanalysis increased molecular diagnostic accuracy from 9% to 26% in a cohort of unresolved monogenic diabetes cases, identifying five previously overlooked genetic defects.
39 citations
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January 2020 in “Frontiers in Genetics” This study found that stage-specific epigenetic changes, particularly involving the gene PDGFC, may affect wool fiber development in Zhongwei goats, potentially serving as a biomarker for fur goat selection.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that DNA methylation regulates hair follicle differentiation in cashmere goats by suppressing gene expression during induction and enhancing it during differentiation, with potential involvement of specific lncRNAs.
13 citations
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November 2018 in “Animal Genetics” This study suggests that a newly identified KRT 71 gene variant may be responsible for curly hair in Curly Coated Retrievers and potentially contributes to follicular dysplasia.
99 citations
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March 2013 in “Journal of Investigative Dermatology” This study identified ABCB6 as the first gene linked to dyschromatosis universalis hereditaria (DUH) in a large Chinese family, suggesting it plays a role in skin pigmentation.
2 citations
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January 2019 in “Medizinische Genetik” Among families with pediatric brain disease, this study identified over 200 novel genetic causes, revealing potential treatment points using drug repurposing or nutritional supplementation.
5 citations
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June 2023 in “BMC genomics” This study found that a specific genetic mutation in the Fgf5 gene may contribute to the long-hair trait in Angora rabbits by reducing the binding capacity of the FGF5 protein.
3 citations
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May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers identified loss of function variants in the HR gene as likely causes of the distinct roaning hair coat seen in lykoi cats.
1 citations
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September 2011 in “British Journal of Dermatology” This review discusses advances in understanding the role of Malassezia in seborrhoeic dermatitis and dandruff, highlighting the significance of the hair follicle infundibulum and the action of zinc pyrithione, but reports no new clinical results.
This research evaluated the wound healing potential of NIMO-CH, a cellulose hydrogel with indigenous microorganisms, in ICR mice and found complete wound closure with hair growth by day 18-20, suggesting it could be a viable alternative for wound care.
This study identified a missense variant in the EDA gene of a male cat, which likely caused hypohidrotic ectodermal dysplasia, characterized by hair and teeth abnormalities; this represents the first report of such a genetic condition in cats.
January 2024 in “Wiadomości Lekarskie” In this study, researchers at the Laboratory of Regenerative Medicine WUM are exploring the long-term effects of SARS-CoV-19 infection, focusing on stem cell mobilization and engraftment processes, and utilizing advanced diagnostic techniques to develop algorithms for rare disease classification, including amyloidosis.
December 2021 in “Molecular genetics and genomics” This study found that two unrelated domestic shorthair cats had novel DSG4 gene mutations causing defective hair shafts, representing the first report of pathogenic DSG4 variants in domestic animals.
June 2019 in “Pediatric Dermatology” This review discusses the pathogenesis and clinical presentations of alopecia in epidermolysis bullosa patients, noting diverse hair abnormalities and emphasizing the lack of a consensus on its natural history.
November 2025 in “Journal of Investigative Dermatology” This study found that UVB exposure led to visible tanning and distinct DNA methylation changes in pigmentation genes in tan-capable skin but not in non-tan skin, highlighting GNAS as a potentially UVB-responsive gene.
April 2018 in “Journal of Investigative Dermatology” In this study, the authors identified a role for hair follicles in regulating the formation and sympathetic innervation of arrector pili muscles, influencing hair follicle stem cell activity and potentially explaining hair loss associated with beta-blockers and androgenic alopecia.
July 2023 in “Frontiers in veterinary science” In this study, researchers analyzed skin samples from Dorper sheep to identify 395 differentially expressed long non-coding RNAs (lncRNAs) linked to hair follicle growth phases, suggesting these lncRNAs may play a role in the regulation of hair shedding through pathways like estrogen and PI3K-Akt signaling.
April 2020 in “Journal of the Endocrine Society” This case report emphasizes the importance of early diagnosis of Swyer Syndrome in adolescents with slow pubertal progression and primary amenorrhea due to the high risk of germ cell cancers.
April 2026 in “Human Genome Variation” This study identified a specific hemizygous intronic variant in the MBTPS2 gene associated with IFAP syndrome in a patient, revealing exon skipping and reduced normal transcript expression through long-read RNA sequencing.
23 citations
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August 2017 in “Genome” This study identified several genes and signaling pathways, such as Wnt and MAPK, involved in fur development in Chinchilla rex rabbits, providing insights into skin and hair follicle growth.
822 citations
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January 2021 in “Genome biology” This study presents a new method called scMC that effectively distinguishes biological from technical variation in single-cell genomics datasets, demonstrating its ability to accurately align and detect biological signals across various experiments.
7 citations
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October 2013 in “Methods in molecular biology” This article describes standard methods for studying DNA methylation dynamics in mouse skin and hair follicle stem cells but presents no new research findings.
17 citations
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September 2022 in “Genes & Genomics” In this study, researchers identified specific long non-coding RNAs involved in feather development that do not follow traditional genetic inheritance patterns in chickens.
5 citations
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January 2016 in “Genetics and Molecular Research” This study identified 617 differentially expressed genes in cashmere goat hair follicles, which are involved in key biological processes and provide insights into hair follicle development.
25 citations
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March 2012 in “Journal of Dermatological Science” This review discusses genome-wide association studies in dermatology, noting that variants linked to risk for 10 skin complex diseases have been identified, with potential implications for diagnostics and management; it reports no new clinical results.
4 citations
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February 2025 in “BMC Genomics” This study identified 71 SNPs linked to black wool traits in Qira sheep and found that specific mutations in the TYRP1 gene significantly correlate with coat color variations, providing insights for their genetic selection and conservation.
1 citations
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September 2023 in “Clinical, cosmetic and investigational dermatology” This genome-wide association study identified several genetic markers, including specific SNPs and HLA genotypes, associated with alopecia areata susceptibility in the Taiwanese population, highlighting key pathways involved in immune response and offering insights into the genetic origins of this autoimmune condition.
October 2025 in “Animal Bioscience” This review summarizes the application of genome wide association studies and selection signature analyses in sheep and goat breeding in China, highlighting genomic regions that influence traits like reproductive performance and body size.
This study found that Nubian ibex have developed genetic adaptations in response to their desert environment, including enhanced skin barrier, DNA repair, viral response, and metabolism of toxic compounds.