165 citations
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September 2001 in “Genes & development” This study found that Cutl1 mutant mice experienced retarded lung differentiation and abnormal hair follicle morphogenesis, indicating the vital role of CDP in lung development and hair follicle cell-lineage specification.
October 2024 in “Journal of the Endocrine Society” This study found that certain CYP21A2 mutations significantly reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia phenotypes, which may aid in enhancing diagnosis and treatment strategies.
7 citations
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April 2020 in “JIMD Reports” In this follow-up of three siblings with ATP6AP1 deficiency, the researchers observed progression to total hearing loss, hair loss, and proteinuria.
April 2017 in “Journal of Investigative Dermatology” This study demonstrated that mitochondrial function in keratinocytes is crucial for maintaining skin homeostasis and hair follicle development, as its impairment led to disrupted hair morphogenesis and early death in mice.
61 citations
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September 1994 in “Journal of Medical Genetics” This study found strong evidence linking a keratin gene anomaly to pachyonychia congenita, supporting its role in affecting skin, nails, hair, and mucosa.
10 citations
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January 2010 in “International journal of trichology” This study found that keratin-associated proteins form part of the developing exocuticle and a-layer in hair fiber cuticle cells, while cornified envelope proteins were absent.
September 2019 in “Journal of Investigative Dermatology” CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.
27 citations
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April 2004 in “Biochemical and Biophysical Research Communications” In this study, two novel clusters of keratin-associated protein genes on human chromosome 11 were analyzed, suggesting their products are crucial for hair formation due to preferential expression in hair roots.
17 citations
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February 2015 in “Cell Death and Disease” This study found that inhibiting AP1 transcription factor activity in the suprabasal epidermis of mice alters keratinocyte gene expression, reducing barrier integrity and mimicking human keratoderma.
8 citations
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March 2004 in “Mammalian genome” KAP genes are crucial for hair development and show both shared and unique traits in humans, chimpanzees, and baboons.
January 2013 in “edoc (University of Basel)” This study found that TRF1 plays a crucial role in maintaining pluripotency and stem cell compartments, but it is not a suitable in vivo telomere length marker.
2 citations
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May 2020 in “Journal of the American Academy of Dermatology” Hair shaft changes may be linked to CCCA, but their role is unclear.
20 citations
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May 2013 in “International Journal of Molecular Medicine” This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.
280 citations
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January 2004 in “The EMBO Journal” AGC2-1 protein is essential for root hair growth in Arabidopsis.
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.
3 citations
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June 2013 in “Genes & development” In their research, Yucel and colleagues found that CaV1.2 is expressed in hair follicle stem cells, facilitating anagen re-entry in a way not dependent on calcium flux.
This study found that inhibiting AP-1 transcription factors in mice causes squamous tumors to transform into sebaceous tumors and regulates tumor cell lineage.
September 2012 in “대한피부과학회지” In this study, Dsc 1 was highly expressed in certain layers of fetal epidermis and hair follicle but not in basal cells or oral mucosa, indicating its potential role in maintaining epithelial integrity.
15 citations
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December 2020 in “The Journal of General Physiology” This study found that acid regulation of the TRPV3 channel can inhibit its function from outside the cell while facilitating it from inside, providing insights into skin barrier and disorder mechanisms related to tissue acidosis.
November 2025 in “Journal of Investigative Dermatology” This study identified nine pathogenic variants in the PADI3 gene and variants in the S100A3 and TCHH genes in patients with central centrifugal cicatricial alopecia, suggesting a broader genetic basis for the disease and potential targets for genetic testing and therapies.
April 2023 in “Cancer research” This study suggests that KRTAP2-3 may serve as a novel biomarker to identify cells in the polyaneuploid cancer cell state, which is linked to therapy resistance and poor prognosis in prostate cancer.
November 2025 in “PubMed” This study identified nine pathogenic variants in the PADI3 gene, and variants in the S100A3 and TCHH genes, which may disrupt protein function and contribute to central centrifugal cicatricial alopecia.
January 2024 in “Animals” This study suggests that the transcription factors SP1 and KROX20 regulate CUX1 gene's effect on the proliferation of ovine dermal papilla cells in vitro.
324 citations
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May 2002 in “Oncogene”
20 citations
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July 2011 in “PLoS ONE” This study found that HPV-150 and HPV-151 are rare genotypes with a preference for skin tissue, detected in some cases of skin lesions with generally low viral loads.
117 citations
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August 1999 in “Nature Genetics” April 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that CTCF is crucial for proper skin and hair follicle development in mice, affecting keratinocyte differentiation and gene expression in keratin loci.
This study found that inhibiting AP-1 activity in mice can induce lineage transdifferentiation between squamous and sebaceous tumors, suggesting AP-1's role in maintaining tumor cell identity.
January 2026 in “Applied Sciences” In this study, cyclic ADP-ribose (cADPR) treatment in human hair follicle dermal papilla cells was associated with increased intracellular calcium retention and activated anagen-related signaling without causing significant cytotoxicity, indicating its potential impact on hair growth processes.
6 citations
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January 2006 in “Journal of dermatological science” Runx1 helps control the KAP5 gene in human hair follicles.