January 2012 in “Zhongguo nongye Kexue” This study concluded that transgenic somatic cell nuclear transfer technology can produce cashmere goat blastocysts carrying the K2.9 gene using specific fibroblast cells and activation methods.
42 citations
,
September 2003 in “Journal of Investigative Dermatology” A missing mK6irs1 gene causes hair loss in mice.
29 citations
,
June 2010 in “The Journal of Dermatology” This report documents a novel alanine to valine substitution in the GJB2 gene in a Japanese girl with severe keratitis–ichthyosis–deafness syndrome, suggesting a potential link to her severe recurrent infections and immunodeficiency.
1 citations
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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.
July 2023 in “Nature Immunology” CD8+ virtual memory T cells may cause hair loss in alopecia areata.
10 citations
,
December 2015 in “International Journal of Dermatology” This study suggests that basal cell carcinoma and trichoblastoma may share differentiation toward the hair follicle, as indicated by strong positivity in CK 15, follistatin, and Bmi‐1 markers.
22 citations
,
September 2014 in “JAMA dermatology” This study identified major criteria including ectodermal malformations for diagnosing ichthyosis with confetti, and revealed significant genetic variation in the disease locus within the general population.
10 citations
,
January 2003 in “Dermatology” This study describes a Japanese family with monilethrix and found no clear genotype/phenotype correlation in cases with the E413K mutation in hHb6.
September 2022 in “Indian Journal of Paediatric Dermatology” This case report documents the first confirmed mutation-proved instance of Clouston syndrome in a large Chinese-Malaysian family, linked to the c.263C>T (A88V) mutation in the GJB6 gene, with no available treatment but highlighting the importance of genetic counseling.
25 citations
,
November 2020 in “Proceedings of the National Academy of Sciences” This study found that the HoxC gene cluster plays a critical role in the development of ectodermal organs, including hair and nails, with mammalian-specific enhancers increasing transcription levels during development.
70 citations
,
December 2004 in “Differentiation” This study identifies six novel keratin genes from the chromosome 17q21.2 region, suggesting their association with hair follicles, while all 27 keratin genes in the domain have been characterized transcriptionally.
1 citations
,
January 2013 This study observed that inducible deletion of the Ugcg gene in mouse epidermis led to a significant reduction in GlcCers and epidermal POS-Cers, causing impaired skin barrier function and delayed wound healing.
29 citations
,
January 2003 in “Genomics” A new mouse mutation causes skin and hair issues, influenced by another gene.
42 citations
,
October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.
October 2023 in “Journal of cystic fibrosis” May 2023 in “The Journal of Immunology” In this study of C3H/HeJ mice, researchers observed that alopecia areata is associated with the expansion of exhausted-memory CD8 T cells in multiple organs, with autoreactive activation not fully explained by known mechanisms, shedding light on the immunological dynamics underlying the condition.
2 citations
,
November 2019 in “Cancer reports” This study concluded that the Wnt signaling pathway does not significantly influence human keratoacanthoma development, but the overexpression of Sox9 suggests alternate signaling involvement.
9 citations
,
February 2001 in “Journal of Dermatological Science” This study found that the expressions of CDK inhibitors p21waf1/cip1 and p27kip1 were higher during the anagen phase compared to telogen, suggesting a role in follicular epithelial cell differentiation.
372 citations
,
December 2004 in “Nature Genetics”
11 citations
,
March 2013 in “Journal of Applied Biomedicine” This study found that β-catenin is essential for hair follicle stem cell proliferation and may regulate this process through the PI3K/Akt pathway, suggesting its potential as a therapeutic target.
6 citations
,
January 2022 in “Gene” This study identified 53 keratins in the yak genome, predicting diverse phosphorylation sites and subcellular localizations, and highlighted strong gene expression correlations during the yak hair follicle development cycle.
11 citations
,
October 2007 in “Journal of Investigative Dermatology” Mutations in the Sgk3 gene cause fuzzy hair in mice.
314 citations
,
April 2010 in “Developmental Cell” This study found that in mice, inactivating beta-catenin in the dermal papilla reduces hair follicle progenitor proliferation and disrupts the hair cycle.
8 citations
,
September 2020 in “Genes & Genomics”
2 citations
,
April 2018 in “Journal of Investigative Dermatology” This case study in a renal transplant patient observed that eruptive KA-type SCCs exhibited aggressive behavior and genetic expression changes following intralesional chemotherapy, indicating potential caution against routine use of such treatments in similar cases.
27 citations
,
June 2013 in “Genes & development” This study found that L-type channel blockers can induce hair growth in Timothy syndrome by overcoming delays in anagen phase, suggesting a potential therapeutic role for tissue regeneration.
52 citations
,
May 2006 in “Journal of Structural Biology” This study identified two key pentapeptide quasi-repeats in human keratin-associated proteins, which are similar to motifs found in sheep wool.
42 citations
,
June 2002 in “Molecular and Cellular Biology” In this study, researchers identified distinct chromatin regions and regulatory elements that drive keratinocyte-specific gene expression, highlighting complex enhancer modules influencing skin epithelium through a combination of transcriptional activators and repressors.
April 2017 in “Journal of Investigative Dermatology” This study found that PRC1 plays crucial roles in skin epithelial stem cell regulation, with catalytic and non-catalytic functions impacting epidermal integrity, hair development, and Merkel cell dynamics in murine models.
63 citations
,
May 2011 in “Clinical cancer research” In this study, topical CUR61414 was effective in inhibiting basal cell carcinomas in mice, but no clinical activity was observed in human trials.