February 2023 in “Research Square (Research Square)” This study reports that a new mouse model with a CARD14 mutation successfully mimics key human PRP symptoms, and anti-IL-17A antibody significantly reduces these symptoms.
July 1995 in “Journal of Dermatological Science” This study found that Compound Diandao Pulvis Drug Facial Mask improved some signs of acne in a rabbit ear model, but its effects were not significantly different from tretinoin cream.
1 citations
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September 2019 in “Journal of Investigative Dermatology” In this study, researchers used a CRISPR-based method to correct mutations in the COL7A1 gene in stem cells from RDEB patients, restoring normal collagen expression in engineered skin grafts in mice.
January 2014 in “生命科学(ISSN1934-7391)” A certain gene variation can affect protein production and is linked to male pattern baldness.
2 citations
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January 2012 in “Hair therapy & transplantation” This study observed that DDAIP-HCl enhanced the permeation of minoxidil through human cadaver skin, suggesting potential for improved treatment efficacy in male pattern hair loss.
30 citations
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June 2016 in “Journal of Human Genetics” This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.
31 citations
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September 1999 in “Molecular Carcinogenesis” This study in a transgenic mouse model found that repressing overexpression of ornithine decarboxylase reduced papilloma development, indicating its role in tumor promotion sensitivity.
33 citations
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August 2000 in “Experimental Cell Research” 132 citations
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August 2008 in “Development” This research found that Dlx3 plays a central role in hair formation and regeneration, with its absence leading to alopecia through disrupted differentiation and signaling pathways.
April 2021 in “Journal of Investigative Dermatology” A deep learning model was developed to help diagnose trichothiodystrophy by analyzing hair patterns.
18 citations
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November 2005 in “Archives of Dermatological Research” September 2019 in “Journal of Investigative Dermatology” This study observed that PCE-DP may improve skin pigmentation by increasing epidermal turnover and inhibiting melanin uptake and inflammation in human epidermal keratinocytes.
1 citations
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July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this open-label trial, Tofacitinib was well tolerated and improved IFN and cytokine scores, as well as overall skin pathology, in individuals with Down syndrome and immune skin conditions.
This study found that the dark pigmentation pattern in Dun Mongolian horses' "Bider marking" is closely associated with higher protein levels and specific localization of MITF and WNT3A, suggesting these are key factors in its formation.
5 citations
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December 2021 in “Frontiers in Cell and Developmental Biology” This review outlines how peptidyl arginine deiminases (PADIs) and protein citrullination are involved in hair follicle regeneration and inflammatory alopecia, but presents no new clinical findings.
67 citations
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August 2004 in “Endocrinology” This study identified a novel I268T mutation in the vitamin D receptor that reduces its function, contributing to hereditary vitamin D-resistant rickets, and found that a potent vitamin D analog could improve receptor function.
117 citations
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April 2008 in “Developmental biology” This study identified that Eda-A1 unexpectedly induces placode inhibitors dkk4 and lrp4, indicating the importance of tightly regulated signaling for proper ectodermal organ development.
48 citations
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June 2000 in “Japanese Journal of Cancer Research” This study found that dimethylarsinic acid significantly accelerates skin tumor development in hair follicle-targeted K6/ODC transgenic mice.
28 citations
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October 2004 in “Differentiation” This study identified a large deletion in the desmoglein 4 gene as the genetic basis of the Iffa Credo "hairless" rat's skin phenotype, linking it to lanceolate hair mutations.
1 citations
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November 2024 in “Diabetes Metabolic Syndrome and Obesity” In this study, researchers found that a specific genetic variant in the INSR gene is linked to severe insulin resistance and hyperandrogenemia in type A insulin resistance syndrome, suggesting the benefit of exon sequencing for accurate diagnosis and treatment.
July 2025 in “Journal of Investigative Dermatology” 28 citations
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November 2018 in “American Journal of Medical Genetics Part A” This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.
27 citations
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May 2007 in “Archives of dermatological research” In this study, alopecia areata patients treated with diphencyprone showed a significant increase in CD8 lymphocytes around hair bulbs, which may be associated with hair regrowth.
56 citations
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February 2012 in “Developmental biology” This study found that the absence of Sostdc1 in mice alters mammary gland and hair follicle development, particularly by increasing vibrissae numbers and causing unusual nipple-like structures.
This case report describes a 33-year-old Kashmiri woman with Woodhouse-Sakati syndrome who has a rare DCAF17 gene mutation, c.321+1G>A, providing further evidence for its role in the genetic basis of this neuroendocrine disorder.
January 2024 in “Skin Appendage Disorders” January 2009 in “OhioLink ETD Center (Ohio Library and Information Network)” This study found that p63 and p73 regulate the vitamin D receptor (VDR), with p63 influencing cancer cell behaviors and p73 playing a role in vitamin D-mediated differentiation.
July 2024 in “International Journal of Molecular Sciences” This study explored the effects of DPP, a 15-PGDH inhibitor, on human follicle dermal papilla cells damaged by dihydrotestosterone and observed that DPP enhanced wound healing, reduced reactive oxygen species, and increased hair growth in ex vivo human hair follicle cultures.
1 citations
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April 2025 in “Pediatria i Medycyna Rodzinna” This research re-analyzed single-cell gene expression data from a mouse model, confirming that certain genes involved in the EDA-EDAR and WNT pathways are crucial for skin appendage development, suggesting that their restoration may mitigate the effects of hypohidrotic ectodermal dysplasia in children.