39 citations
,
December 2012 in “The American Journal of Human Genetics” This study identified mutations in the SNRPE gene that may disrupt hair growth, linking a spliceosome component to hereditary hair loss disorders.
1 citations
,
September 2021 in “Cureus” This study found that the rs1128977 SNP in the RXRG gene may be linked to altered clinical characteristics such as higher HDL-cholesterol levels and increased body mass index in individuals with dyslipidemia.
April 2017 in “Journal of Investigative Dermatology” This study suggests that PKCß plays a critical role in modulating the dermal inflammatory microenvironment in response to dietary lipids in mice.
18 citations
,
January 2015 in “Experimental Dermatology” This study reports new monilethrix cases in Venezuela, the Netherlands, Belgium, and France, expanding the known mutational spectrum of the disorder with novel mutations in KRT81, KRT83, and KRT86 genes.
April 2018 in “Journal of Investigative Dermatology” This study found that the RNA helicase DDX6 is essential for maintaining self-renewal in epidermal progenitor cells by promoting the translation of proliferation regulators and degrading differentiation-inducing mRNAs.
January 2014 in “Max Planck Digital Library” This research describes mouse models to explore Kindlin-1's role in skin disorders, including Kindler syndrome, revealing novel integrin-independent pathways potentially leading to skin tumors.
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.
5 citations
,
July 2022 in “Orphanet journal of rare diseases” This study found that RSPO1 mutations in patients with a 46XX disorder of sexual development contribute to impaired skin integrity and increased risk of squamous cell carcinoma in areas subject to friction.
143 citations
,
May 2002 in “PubMed” This study found that the retinoid LGD1069 suppressed mammary tumorigenesis in a mouse model without observable toxicity, while TTNPB showed modest effects but was associated with significant toxicity.
86 citations
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May 2002 in “Journal of Investigative Dermatology” This study characterized a new human keratin, hK6irs1, specifically found in the inner root sheath of hair follicles, which suggests its role in the structural integrity and guidance of growing hair shafts.
15 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identifies KLK14 as a significant factor contributing to hair defects and skin inflammation in a mouse model of Netherton syndrome.
August 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that KrasG12D mutant cells are typically cleared from adult pancreas tissues through mechanisms involving the EphA2 receptor, suggesting its role as a tumor suppressor in pancreatic cancer.
1 citations
,
January 2015 This study found that bursts of ERK activation in the skin, termed SPREADs, are linked to increased cell division and help synchronize cell cycle progression in living mice.
1 citations
,
December 2023 in “International journal of molecular sciences” In this study, researchers found that miR-199a-3p plays a regulatory role in hair follicle development via the PTPRF/β-catenin axis and established a mouse model of alopecia areata by downregulating this small RNA, suggesting its potential value in studying alopecia diseases.
6 citations
,
April 2005 in “Journal of dermatological science” This study identified the expression sites of five KAP5 genes on human chromosome 11q13.5 in scalp skin sections but did not explore their detailed distribution within hair follicles.
46 citations
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December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that Acvr1b signaling is crucial for both hair follicle development and cycling in mice, with the genetic disruption leading to hair loss and a thickened epidermis.
In this study of mouse hair follicles, Raptor was specifically expressed in hair follicle stem cells, while Rictor was mainly found in inner root sheath cells, indicating distinct roles in hair growth stages.
1 citations
,
June 2018 in “World rabbit science” This study identified differentially expressed microRNAs between back and belly skin in Rex rabbits, highlighting their potential roles in skin development processes.
May 2026 in “Stem Cell Research & Therapy” In this study, researchers identified KRT6A as a potentially important gene in mesenchymal stem cell-derived treatments for alopecia areata, revealing its role as a diagnostic marker, predictor of disease severity, and a protective factor, with overexpression alleviating hair loss in experimental models.
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.
21 citations
,
April 2014 in “PLoS ONE” In this study, researchers identified a novel KRT74 gene mutation associated with autosomal recessive pure hair and nail ectodermal dysplasia in a Pakistani family, expanding the known genetic causes of the disorder.
48 citations
,
July 2023 in “Pediatric Dermatology” This study found that among adolescents with alopecia areata and significant hair loss, treatment with ritlecitinib resulted in greater hair regrowth and self-reported improvement compared to placebo over 48 weeks, with common side effects including headache, acne, and nasopharyngitis.
9 citations
,
November 2019 in “Cell calcium” This study found that a mutation causing Stormorken syndrome in mice led to skeletal abnormalities and unusual hair growth, showcasing the STIM1 R304W protein’s role in bone development and cell fate.
10 citations
,
August 2023 in “The EMBO Journal” This study explored the epigenetic mechanisms of dermal fibroblast progenitor differentiation and found that the repressive chromatin profile from H3K27me3 prevents these progenitors from reforming skin in allograft assays, despite their multipotent potential.
6 citations
,
January 2004 in “DNA Research” This study identified a nonsense mutation in the Sgkl gene as the cause of defective hair growth in a mutant mouse strain, implicating the SGKL signaling pathway in hair development.
4 citations
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August 2022 in “Cells” This study found that the lncRNA lncRNA2919 is involved in hair follicle regeneration by downregulating growth-related genes, inhibiting cell proliferation, and promoting apoptosis in rabbit dermal papilla cells.
13 citations
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January 2018 in “Advances in experimental medicine and biology”
171 citations
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July 2007 in “Journal of Investigative Dermatology” The researchers reported that DHT-inducible DKK-1 may play a significant role in DHT-driven balding by inhibiting hair follicle cell growth and promoting apoptosis in androgenetic alopecia.
5 citations
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March 2019 in “Experimental dermatology” In this study involving adult mice, the researchers identified that double-stranded RNA-mediated activation of toll-like receptor 3 stimulates wound-induced hair neogenesis, potentially reflecting mechanisms used in facial rejuvenation treatments.
3 citations
,
January 2011 in “生物医学研究杂志:英文版” In this study, a novel heterozygous transition mutation in the KRT86 gene was identified, which may be pathogenic for monilethrix in a Chinese family.