57 citations
,
July 2005 in “Genetics” In this study on Drosophila wings, researchers identified 435 genes with significant expression changes during wing hair morphogenesis, and found new phenotypes for 9 genes through functional validation.
47 citations
,
April 2000 in “Experimental Dermatology” This study identified a novel missense mutation in the hairless gene in a Polish family, which may contribute to congenital atrichia with papular lesions by affecting the gene's function.
18 citations
,
January 2018 in “BMC dermatology” This paper describes a case of epidermolysis bullosa simplex with muscular dystrophy associated with a novel PLEC mutation and diffuse alopecia, highlighting a potential genetic link that remains uncertain.
4 citations
,
January 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that the KLHL24-ΔN28 protein variant disrupts hair follicle stem cells in a mouse model, leading to premature hair loss by degrading keratin 15.
This study identified several genetic mutations linked to hereditary skin and hair disorders in consanguineous families from remote areas of Pakistan, enhancing understanding of the molecular basis of these conditions.
11 citations
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December 2009 in “Cell stem cell” This study demonstrates that Sox2+ dermal papilla fibroblasts exhibit properties of adult stem cells, including the ability to induce hair follicle formation and contribute to dermal regeneration.
17 citations
,
June 2019 in “BMC genomics” This study cataloged several long non-coding RNAs and microRNAs in cashmere goat dermal papilla cells, suggesting these non-coding RNAs may play a role in hair follicle stem cell activation and hair growth.
February 2014 in “Cancer Research” This study found that MYH9 acts as a tumor suppressor in squamous cell carcinomas by stabilizing p53 in the nucleus, suggesting its role in cancer prevention.
January 2009 in “China Practical Medicine” This study found that several genes, including capping protein, palladin, VEGF, and HSPC-related clones, might cooperatively influence the aggregation, proliferation, and cycle control of dermal papilla cells, potentially affecting hair follicle behavior.
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.
6 citations
,
July 2023 in “Nature cell biology” In this study, re-activating SOX9 in adult epidermal stem cells led to a fate switch towards hair follicle stem cell identity, with altered chromatin dynamics and oncogenic activation, contributing insights into developmental processes and cancer pathways.
13 citations
,
November 2012 in “PLoS ONE” This study identified a novel recessive mutation in mice causing lethal congenital lamellar ichthyosis, with skin and hair follicle alterations similar to human congenital ichthyoses, linked to a specific genetic defect affecting Fatp4.
7 citations
,
April 2000 in “Mammalian Genome” This study identified a new mutation in SELH/Bc mice causing distinctive whisker and body hair abnormalities, mapped near the type I keratin cluster on chromosome 11.
November 1997 in “Open Archive (Karolinska Institutet)” This research observed that mutations in the PTCH gene are common in both sporadic and hereditary basal cell cancers, suggesting a critical role of the PTCH signaling pathway in skin tumor development.
February 2026 in “Pediatric Dermatology”
November 2022 in “Journal of Investigative Dermatology” This study found that the cytoplasmic dynein component Dynlt3 is essential for effective melanosome transport and transfer in mouse melanocytes, linking melanosome positioning and acidity to the Wnt/β-catenin signaling pathway.
July 2024 in “Journal of Investigative Dermatology” This study found that in mice with alopecia areata, CD8+ T cells showed clonal expansion and specific regulatory networks, which might help identify new therapeutic targets for patients not responding to JAK inhibitors.
13 citations
,
June 2007 in “Journal of Dermatological Science” This study identified several genes regulated by dihydrotestosterone in an SV40T-transformed human dermal papilla cell line, which may play a role in androgen-mediated hair growth regulation.
6 citations
,
November 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers found that the gene Dkk4 influences color pattern formation in domestic cat fetuses, and its mutation is linked to the Ticked pattern type.
33 citations
,
June 2007 in “Gene Expression Patterns” This study found that CTIP2 is highly expressed in mouse skin during embryogenesis and adulthood, suggesting it may play a role in skin development and homeostasis.
245 citations
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January 1998 in “Genes & Development” This study found that Hoxc13 mutations in mice cause defects in hair, nail, and tongue structures, with the most noticeable issue being brittle hair leading to alopecia.
59 citations
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October 2017 in “Proceedings of the National Academy of Sciences” This study found that the zinc transporter ZIP10 is crucial for epidermal development, as it influences the activity of p63, promoting epidermal morphogenesis.
April 2005 in “Journal of Investigative Dermatology” This compilation reviews multiple dermatologic studies, reporting findings such as the lack of a psoriasis-susceptibility allele in cluster 17, and highlighting a mouse model for studying hair follicle formation, among others.
March 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, early prenatal treatment with Minoxidil, a lysyl hydroxylase inhibitor, partly improved cardiac outflow tract septation in Tbx1 mutant mice, suggesting that inhibiting collagen cross-linking may mitigate some effects of Tbx1 mutation associated with DiGeorge syndrome.
August 2012 in “Nature Cell Biology” In this study, researchers found that β-catenin directly promotes TERT expression in stem and cancer cells by interacting with the Tert promoter, illustrating a mechanistic link between tumorigenesis and pluripotency.
10 citations
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August 2023 in “The EMBO Journal” This study explored the epigenetic mechanisms of dermal fibroblast progenitor differentiation and found that the repressive chromatin profile from H3K27me3 prevents these progenitors from reforming skin in allograft assays, despite their multipotent potential.
338 citations
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July 2009 in “Development” This study demonstrates that Sox2-positive dermal papilla cells specify particular hair follicle types by showing heterogeneity in gene expression and pathway activation in these cells.
June 2026 in “Skin Appendage Disorders” This review discusses diffuse unpatterned alopecia (DUPA) as an understudied variant of androgenetic alopecia, summarizing its presentation and management while calling for further research to better understand its distinct characteristics.
5 citations
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May 2023 in “European Journal of Human Genetics” This study found that mutations in the TULP3 gene are associated with progressive degeneration of the liver, kidney, and heart in adults, highlighting the importance of early detection and management.
November 2024 in “Journal of Investigative Dermatology”