September 2017 in “Journal of Investigative Dermatology” This study found that in AGA, the risk allele at locus 2q35 alters WNT10A expression through EBF1, suggesting a potential androgen-dependent regulatory mechanism.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This study reports a novel mutation in the TP63 gene associated with T and B cell lymphopenia in an EEC patient, suggesting that EEC diagnosis should include TREC assay and evaluation for immunodeficiency.
65 citations
,
November 2013 in “The EMBO Journal” HDAC1 is crucial for skin development and preventing tumors.
May 2022 in “Experimental dermatology” In this study, hair shafts from trichothiodystrophy patients with ERCC2 mutations revealed abnormal cuticle structures and protein imbalances compared to normal hair shafts.
252 citations
,
November 1995 in “The EMBO Journal” Blocking EGFR in mice causes hair loss and skin changes.
127 citations
,
July 2002 in “EMBO journal” This study found that RXRα/RARγ heterodimers are necessary for retinoic acid-induced keratinocyte proliferation in the skin, while normal epidermal maintenance does not require RAR-mediated signaling.
6 citations
,
July 2024 in “Heliyon” This study examined the evolutionary and functional homology of steroid 5α-reductase and DET2 proteins, identifying protists as a common ancestor, and discovered a new subclass DET2-like in plants, potentially involved in polyprenol reduction.
41 citations
,
December 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reported that deleting the MED1 subunit from the MED complex in keratinocytes resulted in disrupted hair differentiation and cycling, leading to hair loss in mice.
21 citations
,
December 1994 in “Journal of Investigative Dermatology” January 2002 in “NCSU Libraries Repository (North Carolina State University Libraries)” This study found that skin is a significant site for estrogen production in mice, impacting both hair cycle regulation and sensitivity to chemical carcinogenesis.
91 citations
,
November 2008 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that DGAT1 functions as a key enzyme in murine skin to regulate retinoic acid levels and prevent retinoid toxicity, impacting hair cycle and sensitivity to retinol.
This study in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.
7 citations
,
January 2023 in “Frontiers in cell and developmental biology” This study found that Celsr1, not Celsr2, is the primary protein involved in establishing planar cell polarity and hair follicle polarization in the epidermis of mice.
67 citations
,
August 2007 in “American Journal of Pathology” This study found that overexpression of the mineralocorticoid receptor in a mouse model led to premature epidermal barrier development, keratinocyte apoptosis, and postnatal alopecia, indicating new roles for MR signaling in skin physiology.
16 citations
,
May 2000 in “Endocrinology” This study identified a new gene, mrp4, in mice, which suggests it may have a unique role in the growth and development of hair follicles in the ears and tails.
April 2021 in “Journal of Investigative Dermatology” In this study, researchers observed that different ERK signal activation dynamics during hair follicle regeneration are linked to cell fate specification and are affected by distinct upstream signaling pathways.
6 citations
,
December 2022 in “International Journal of Molecular Sciences” This study revealed that deleting EZH2 in mesenchyme-derived cells of the female reproductive tract led to impaired uterine gland development and pregnancy loss in mice, highlighting EZH2's crucial role in fertility.
April 2024 in “Communications biology” The researchers reported that disrupting ATRA signaling by deleting RDHE genes in the hair follicle led to altered hair follicle cycles, composition, and gene expression, indicating RDHEs' role in hair follicle signaling coordination.
10 citations
,
December 2015 in “Experimental dermatology” This study found that in mice, EGFR activation suppresses mitotic regulators like Rcc2 and Stathmin 1, facilitating the transition to catagen in hair follicles.
27 citations
,
October 2011 in “British Journal of Dermatology” This study builds on previous findings by associating female pattern hair loss with gene polymorphisms related to oestrogen activity, suggesting oestrogen's role in the condition.
166 citations
,
September 2011 in “The Journal of Cell Biology” This study found that the p63 transcription factor plays a role in epidermal morphogenesis by regulating Satb1 expression, impacting chromatin architecture and gene expression in epidermal progenitor cells.
January 2026 in “MDPI (MDPI AG)” This study revealed that heterozygous mice with the hairy ear mutation exhibited significant gene expression changes related to hair growth, such as upregulation of hair keratin and keratin-associated proteins, shedding light on the Hoxc gene cluster's role in this phenotype.
46 citations
,
May 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that the vitamin D receptor is essential for the self-renewal, migration, and differentiation of epidermal stem cells during skin wound healing in mice.
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.
13 citations
,
April 2019 in “iScience” In this study, researchers observed that EGFR deficiency in the epidermis affects gene expression related to cell differentiation and structure, highlighting spatial and temporal roles of EGFR during skin and hair follicle development.
March 2025 in “International Journal of Molecular Sciences” This study established a Krt24-CreERT2 mouse line targeting outer bulge hair follicle stem cells, finding these cells crucial for hair follicle development and repair, particularly following ionizing radiation exposure.
November 2022 in “Journal of Investigative Dermatology” This study found that "early" transit amplifying cells, marked by CD271, are the first keratinocyte stem cell progenitors with distinct features, playing a significant role in early epidermal differentiation and regeneration.
5 citations
,
September 2013 in “BMB Reports” In this study, the anti-wrinkle effect of bone morphogenetic protein receptor 1a extracellular domain was significantly greater than that of retinoic acid in a mouse model, suggesting potential for BMP antagonists in skin or hair treatments.
10 citations
,
August 1998 in “Journal of Investigative Dermatology”