27 citations
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June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified numerous size polymorphisms in the human ultrahigh sulfur KAP4 genes due to intragenic sequence variations, suggesting these polymorphisms may have arisen through deletions and duplications during evolution.
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.
8 citations
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March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports that the near-naked hairless mutation in mice is not an allele of the Hairless gene but may involve a mutation in a linked gene or a regulatory mutation.
This study found that the transcription factor Lhx2 regulates Sonic Hedgehog signaling in mouse retinal progenitor cells, mainly by controlling the expression of co-receptors essential for effective pathway activation during early retinal neurogenesis.
24 citations
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November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” In this study, mutations in the vitamin D receptor were identified in Brazilian children with rickets and alopecia, leading to impaired receptor activation and reduced 24-hydroxylase expression.
37 citations
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January 2006 in “Carcinogenesis” In this study, crossing mice overexpressing antizyme with MEK mutants significantly delayed tumor development and reduced tumor frequency, likely by slowing cell growth in skin tumors.
August 2026 in “Cell Communication and Signaling” This study found that intravenous administration of a shark-derived receptor antibody, 3P17, promoted hair growth in mice by increasing hair matrix cell proliferation and activating leptin-STAT3 signaling, with transdermal leptin delivery enhancing this effect through improved skin penetration.
May 2025 in “Proceedings of the National Academy of Sciences” In this study, researchers found that the histone demethylase UTX is crucial for regulating skin differentiation through retinoic acid signaling, mainly impacting females, as males compensate with a Y-linked paralog.
April 2025 in “Molecular Biology Reports” In this study, researchers found that DNMT1-mediated methylation of SRD5A2 in urethral epithelial cells from hypospadias-afflicted rats upregulates proteins associated with cell cycle and mitochondrial function, suggesting SRD5A2 as a potential therapeutic target for hypospadias due to its role in modulating cellular functions.
77 citations
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April 2016 in “British journal of dermatology/British journal of dermatology, Supplement” This article reviews the role of IL-17 in inflammatory skin disorders and highlights its potential therapeutic targeting in both neutrophilic and lymphocyte-mediated conditions, reporting no new experimental results.
January 2023 in “Annals of dermatology/Annals of Dermatology” This study found that overexpression of miR-1246 in peripheral CD4+ T cells can reduce markers associated with inflammation and T cell activation in severe active alopecia areata, suggesting potential therapeutic benefits.
3 citations
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January 2008 in “Endocrine journal” In this case report, the authors describe a partial androgen insensitivity syndrome patient with a novel AR gene mutation, highlighting challenges in gender assignment decisions for infants with partial AIS.
This study demonstrates that the trichohyalin gene is located at chromosomal region 1q21, where several other genes related to epidermal differentiation also map.
This study found that the FER/MLO signaling module plays a crucial role in calcium oscillations and ROS production in root hair tip growth, with the MLO15 protein regulating these processes and restoring disrupted growth and signaling in fer mutant root hairs.
59 citations
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November 2011 in “Development” This study found that the transcription factor Trps1 acts as a novel regulator of the Wnt signaling pathway and early hair follicle progenitors in developing vibrissa follicles in mice.
October 2021 in “QJM: An International Journal of Medicine” This study found that patients with alopecia areata had significantly higher serum levels of interleukin-17 compared to healthy controls, suggesting a potential role for IL-17 in the disease's pathogenesis.
January 2024 in “Archives of Endocrinology and Metabolism” In this case report, a novel heterozygous mutation in the insulin receptor gene was identified in an adolescent girl with type A insulin resistance syndrome, characterized by excessive hair growth and skin changes, and her mother.
3 citations
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February 2018 in “Experimental and Molecular Medicine/Experimental and molecular medicine” This study suggests that hair loss disorders like Marie Unna hereditary hypotrichosis may result from mutations that disrupt post-transcriptional regulation of HR protein expression by PCPB2 interacting with Hr mRNA.
12 citations
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July 2004 in “Molecular genetics and genomics” This study identifies a new mutation in the Scd1 gene in a strain of Kunming mice, causing skin and hair defects with the mildest impact among similar mutations.
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that Prss53-mutated rabbits exhibited curved hair and skeletal dyskinesia, suggesting a link between Prss53 loss and these traits, potentially involving disrupted calcium metabolism.
93 citations
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April 2003 in “Proceedings of the National Academy of Sciences of the United States of America” This study identified an unexpected critical role for the FATP4 protein in skin and hair development in mice, linking it to a potential candidate gene for restrictive dermopathy in humans.
October 2025 in “Proceedings of the National Academy of Sciences” This study identifies the PI4P-RHD4 module as a key regulator of GET pathway receptor dynamics in Arabidopsis, affecting TA protein insertion and root hair growth.
19 citations
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February 2013 in “Archives of Dermatological Research”
12 citations
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June 2020 in “Frontiers in Cell and Developmental Biology” This study found that the PP2A-B55α regulatory subunit is crucial for ectodermal development in mice, with knockout embryos displaying severe neural and epidermal defects and failing to survive to birth.
99 citations
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August 2009 in “Nature Genetics” This study found that combined loss of Atr and p53 in adult mice led to severe tissue degeneration and delayed regeneration due to the accumulation of highly damaged cells.
April 2023 in “Journal of Investigative Dermatology” This research explored the roles of various T cell types in chronic alopecia areata, finding that increased severity of lesions and hair loss may be linked to decreased lesional Foxp3+ Tregs, with a notable role for IL-17 and Th17 lymphocytes in the pathological process.
3 citations
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August 2012 in “Nature Cell Biology” This study found that the Wnt-β-catenin pathway directly promotes TERT expression in both stem and cancer cells, highlighting a mechanistic link between tumorigenesis and pluripotency.
60 citations
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December 2003 in “Journal of Investigative Dermatology” This study found that keratin 6hf, a type II keratin, is expressed in specific regions of mouse and human hair and suggests potential interactions with keratin 17, impacting hair development and associated disorders.
16 citations
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August 2022 in “Nature Communications” In this study, researchers discovered that ROR2, a Wnt receptor, plays a crucial role in regulating hair follicle stem cell self-renewal and maintenance, compensating for the absence of β-catenin.
43 citations
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September 2001 in “Annals of Neurology” This study found that somatic mosaic mutations in the doublecortin gene may cause subcortical band heterotopia in male patients, and molecular analysis using hair roots is a useful detection method.