July 2025 in “Journal of Investigative Dermatology” TRIV-509 quickly improves skin barrier and cell health in atopic dermatitis.
26 citations
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October 2002 in “Journal of Investigative Dermatology” This study identifies a mutation in the hairless gene that may impact thyroid receptor interaction, contributing to alopecia universalis congenita in an Arab Israeli patient.
April 2023 in “Journal of Investigative Dermatology” This study demonstrates that human epidermal stem cells can adapt to environmental temperature changes through mTOR signaling, and prolonged inhibition of mTORC1 supports stem cell maintenance, which may be vital for regenerative medicine.
May 2025 in “Acta Biomaterialia” This study developed microneedles combining insulin-like growth factor-1 and type XVII collagen, showing more effective hair regeneration and reduced inflammation compared to minoxidil in a mouse model of androgenetic alopecia.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that mice lacking epidermal HSD11b1 had increased non-histaminergic itch and changes in skin nerve fibers, potentially linked to higher TSLP expression.
15 citations
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June 2019 in “Biochemical Journal” This study identified a heterozygous de novo mutation in the ODC1 gene causing a new disorder characterized by overgrowth and developmental delay, and suggests that DFMO treatment may help manage elevated ODC activity and putrescine levels.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a specific genetic variant in the CCHCR1 gene that may contribute to alopecia areata through impaired keratinization, suggesting an alternative mechanism beyond autoimmune causes.
8 citations
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April 2017 in “Journal of Dermatological Science” The study found that aging in hair follicle stem cells leads to hair follicle miniaturization and eventual hair loss in both wild-type mice and humans by proteolyzing type XVII collagen.
4 citations
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July 2012 in “Genesis” This study reported that a Megsin-Cre transgene enables genetic manipulation primarily in skin, forestomach, and esophagus tissues, offering a new tool for studying development and diseases in these areas.
2 citations
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April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This article discusses the MendelVar webserver, which integrates Mendelian disease data with GWAS findings to prioritize candidate genes for complex traits and reports no new experimental results.
181 citations
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January 2009 in “Nature Genetics” In this study, researchers linked defects in U2HR, an inhibitory region in the HR gene, to Marie Unna hereditary hypotrichosis, suggesting a mechanism for controlling hair growth and addressing hair loss.
145 citations
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May 2008 in “Cancer Science” This review discusses how increased gene copy number for telomerase components may contribute to telomerase up-regulation in cancer cells, although the exact mechanisms are not fully understood.
36 citations
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March 2011 in “Stem Cell Reviews and Reports” August 2026 in “Ebers Papyrus” This study concluded that allele-specific PCR (AS-PCR) is more reliable than tetra-primer ARMS-PCR for genotyping the SNP rs1998076 due to better stability and interpretability.
July 2025 in “Journal of Investigative Dermatology” July 2025 in “Journal of Investigative Dermatology” 78 citations
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November 2005 in “Endocrinology” This study found that Hairless (Hr) acts as a corepressor of the vitamin D receptor (VDR) in human keratinocytes, blocking the action of vitamin D on keratinocyte differentiation.
62 citations
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December 2007 in “Journal of Cellular and Molecular Medicine” This article reviews the role of Kremen proteins as regulators in the Wnt/β-catenin signaling pathway, highlighting their significance in development and cancer, but reports no new clinical results.
5 citations
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July 2014 in “Molecular Biology Reports” December 2004 in “SUNScholar (Stellenbosch University)” This study suggests that identified polymorphisms may serve as markers for assessing an individual's risk of developing prostate cancer.
1 citations
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August 2019 in “Journal of pediatric & adolescent gynecology” This report describes a novel AR gene mutation in a female patient, contributing to androgen insensitivity syndrome, and emphasizes its potential impact on genetic counseling.
January 2022 in “International journal of dermatology and venereology” This case study reports a 36-year-old man with KID syndrome caused by an N14Y GJB2 mutation, expanding the mutation spectrum of this condition in the Chinese population.
76 citations
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May 2011 in “Cell death and differentiation” This study found that the enzyme A20 helps regulate EDAR-induced NF-κB signaling in mice, preventing ectodermal abnormalities like disheveled hair and assuring proper skin and appendage development.
65 citations
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September 2014 in “Orphanet Journal of Rare Diseases” This study identified mutations in the STUB1 gene linked to hereditary cerebellar ataxia with cognitive impairment, revealing potential effects on protein function and patient symptoms, including accelerated aging.
12 citations
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August 2020 in “Frontiers in Genetics” This study suggests that the long noncoding RNA H19 helps dermal papilla cells maintain their hair follicle-inducing ability by activating the Wnt signaling pathway, potentially offering a therapeutic target for androgenetic alopecia.
3 citations
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April 2025 in “Science Advances” This study found that mice with a homozygous knockout of the Ten1 gene, developed through CRISPR-Cas9-mediated exon 3 deletion, exhibited telomere shortening and symptoms consistent with accelerated aging, such as reduced lifespan, skin changes, aplastic anemia, and cerebellar hypoplasia.
This article reviews the role of the hairless protein in hair cycling and gene regulation, noting the need for further understanding of its JmjC domain and subcellular localization roles.
November 2022 in “Journal of Investigative Dermatology” This study found that dysregulation of the DNA damage response in stem cells is a common factor of aging, affecting tissues like the skin, brain, kidneys, and intestine.
September 1999 in “Molecular Carcinogenesis” This study reported that overexpressing ornithine decarboxylase in C57Bl/6 mice increased their sensitivity to tumor promotion by TPA, a change reversible by doxycycline treatment.
44 citations
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January 2023 in “New Phytologist” This study found that low temperature triggers root hair elongation in Arabidopsis thaliana through a FERONIA-ROP2-TORC signaling pathway, also activated by nitrogen deficiency.