28 citations
,
December 2015 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that prostasin's proteolytic activity is necessary for normal hair follicle development in mice, but not for interfollicular epidermal development.
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.
July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” This study identified a new pathogenic variant, c.1081G>T; p.(Glu361*), in the KRT31 gene as a cause of autosomal-dominant monilethrix, highlighting the role of hair keratin proteins in hair and nail tissue disorders.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that HPV8-induced actinic keratoses may mechanistically involve Lrig1+ hair follicle keratinocyte stem cells, with the E6 gene promoting downstream STAT3 activity in a mouse model.
September 2009 in “Encyclopedia of Life Sciences” This paper discusses the role of the KRTAP gene family in the evolution of mammalian hair and its potential link to hair-related disorders, but reports no new research findings.
14 citations
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May 2016 in “International Journal of Molecular Sciences” This study showed that knocking out the Ppp2ca gene in the epidermis of mice led to significant hair loss and disrupted hair follicle morphogenesis and regeneration.
27 citations
,
November 1991 in “Journal of Investigative Dermatology”
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
35 citations
,
October 2002 in “Biochemical and Biophysical Research Communications” This study reports that K7 expression patterns observed in mice are similar to those in humans, revealing previously unreported expression in the gastrointestinal tract, tongue, and various "hard" epithelial tissues.
119 citations
,
August 2008 in “BMC Evolutionary Biology” This study found that while the KRTAP gene family is unique to mammals, humans have a similar number of these hair gene types as other primates despite having less body hair.
33 citations
,
October 1996 in “Journal of Investigative Dermatology”
4 citations
,
December 2020 in “Mammalian genome” This study found that pelage abnormalities in Harlequin mutant mice are linked to severe AIF deficiency and associated with altered expression of genes related to hair structure.
166 citations
,
July 1999 in “American Journal Of Pathology” This study found that the loss of a functional hr gene in mice leads to premature and abnormal hair follicle regression, disrupting normal hair cycling and architecture.
24 citations
,
May 2019 in “PLOS genetics” This study reports that compound heterozygous loss-of-function mutations in the HEPHL1 gene in a child were associated with abnormal hair and cognitive issues, linking altered ferroxidase activity to hair disorders.
17 citations
,
November 2000 in “Journal of Investigative Dermatology” ZPK helps skin cells mature and may affect skin health.
9 citations
,
December 2018 in “Journal of Natural Fibers” This study found that K33A was significantly upregulated in lustrous Magra wool follicles, while other keratin and KAP genes showed downregulation, impacting wool's physical properties like luster.
4 citations
,
May 2006 in “médecine/sciences” This study suggests that the hairless gene encodes a nuclear factor important for hair follicle integrity, and its absence leads to hair follicle loss and defects in tissue development.
May 2023 in “Pharmaceuticals” In this in silico study, researchers analyzed nonsynonymous SNPs in the LIPH gene linked to hypotrichosis and identified three potentially harmful variants (W108R, C246S, and H248N) out of 215 total, using sequence- and architecture-based bioinformatics techniques to differentiate between harmful and benign SNPs.
11 citations
,
September 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a missense mutation in the keratin 71 gene as the cause of autosomal dominant woolly hair/hypotrichosis in a Japanese family, marking the first human mutation in KRT71 linked to a hair disorder.
32 citations
,
June 2013 in “Journal of Investigative Dermatology” This study found that reducing HDAC1 activity in the skin of mice led to defects in hair follicle structure and pigmentation, highlighting HDAC's role in skin and hair maintenance.
77 citations
,
March 2000 in “Journal of Investigative Dermatology” The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.
April 1996 in “Journal of Dermatological Science”
1 citations
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February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that a specific fragment of AIMP1 secreted by hair follicle stem cells can stimulate dermal papilla cells and promote hair regrowth.
53 citations
,
September 1999 in “The journal of cell biology/The Journal of cell biology” In this study, expressing human K16 in the epidermis of K14 null mice prevented early skin blistering but led to age-related anomalies, indicating K16 and K14 have distinct roles despite their sequence similarity.
5 citations
,
October 2022 in “Biology” This study found that CAP1 plays a significant role in reducing ammonium toxicity in Arabidopsis thaliana by promoting shoot growth and maintaining reactive oxygen species homeostasis.
46 citations
,
December 1998 in “Journal of Biological Chemistry” This study found that keratin 19, unlike keratin 14, forms less stable filaments with keratin 5, suggesting distinct assembly properties and potential unique roles in skin basal cells.
July 2025 in “Journal of Investigative Dermatology” July 2025 in “Journal of Investigative Dermatology” Hhip-Cre effectively targets dermal papilla cells for gene manipulation in hair biology.
1 citations
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October 2023 in “PROTOPLASMA”
This study found that inhibiting AP-1 transcription factors in mice causes squamous tumors to transform into sebaceous tumors and regulates tumor cell lineage.