January 2024 in “JCEM case reports” In this clinical case report, a man with Birt Hogg Dube syndrome presented with parathyroid cancer, the first such case according to the authors, highlighting a potential link between Folliculin gene mutations and parathyroid cancer development.
July 2022 in “Research Square (Research Square)” This study reports that Huaier promotes hair growth and tissue regeneration in cancer recovery by activating the Hedgehog signaling pathway, potentially preventing recurrence and metastasis independently from SMO function.
September 2013 in “Helda (University of Helsinki)” This study explored the genetics of inherited developmental defects in dogs and identified novel mutations affecting traits like caudal dysplasia, ectodermal dysplasia, and mucopolysaccharidosis VII, suggesting dogs as models to study human diseases.
20 citations
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June 2007 in “Recent Patents on Endocrine, Metabolic & Immune Drug Discovery” This review summarizes recent research and patents on 17β-HSD3, 17β-HSD5, and 3α-HSD3 inhibitors, suggesting their potential in treating androgen-dependent diseases, but reports no new clinical results.
150 citations
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May 1993 in “The journal of cell biology/The Journal of cell biology” This study suggests that mNotch expression plays a significant role in hair follicle differentiation and cell fate selection within the follicle during development.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” The study demonstrated that both DKK2 and SOSTDC1 are necessary for normal timing of the first catagen phase in mice hair growth cycles.
This paper offers detailed tables of genotypic and phenotypic data on horses, including markers, variants, and haplotypes, but reports no new research results.
92 citations
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April 2009 in “Journal of Investigative Dermatology” The Celsr1 gene is crucial for normal hair patterning in mice.
January 2026 in “American Journal of Medical Genetics Part A” The researchers reported two brothers with a new variant of X-linked trichothiodystrophy associated with an RNF113A gene mutation, highlighting features such as intellectual disability and growth failure, but without previously reported endocrinological or genital abnormalities, underlining the importance of genetic counseling for such variants.
1 citations
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June 2022 in “Experimental dermatology” This study found that SHJH hr mice, with a Hairless gene mutation, exhibit accelerated skin aging potentially due to poor antioxidative protection, highlighting the Hr gene's role in skin aging.
January 2004 in “Molecular biotechnology” 30 citations
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August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” This study identified a novel CDH3 mutation associated with sparse hair and pigmentary macular changes in two siblings with hypotrichosis but no visual symptoms.
318 citations
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October 1998 in “The Journal of Cell Biology” This study found that ectopic expression of the lymphoid-enhancer factor can induce K17 protein in the skin, suggesting a link between skin development and wound repair processes in mice.
158 citations
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December 2002 in “Development” In this study, Msx2-deficient mice showed progressive hair loss due to shortened anagen phase and prolonged catagen and telogen phases, resulting in cyclic alopecia with structurally abnormal hair shafts.
20 citations
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October 1995 in “Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression” hHb1, hHb3, and hHb6 mRNAs start expressing at the same time in hair follicles.
August 2022 in “Frontiers in genetics” This study identified a novel bi-allelic missense variant in the DSC3 gene linked to severe Hypotrichosis with Recurrent Skin Vesicles in a Saudi child, supporting its role in the condition.
62 citations
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October 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
1 citations
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April 2022 in “Journal of cosmetic dermatology” This study found that Krox20 is overexpressed in scar fibroblasts and may play a role in scar formation by upregulating genes involved in tissue remodeling and wound healing.
November 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study used a novel fluorescent tagging method in mice to observe collagen IV dynamics during hair follicle development, revealing that alterations in basement membrane turnover can influence epithelial progenitor cell behavior and organ morphology by affecting cell proliferation and movement.
April 2010 in “The FASEB Journal” This study found that knockout mice lacking intestinal hephaestin are smaller and anemic compared to wild-type, suggesting other mechanisms may compensate for iron absorption.
This case report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with sparse scalp hair and macular dystrophy, leading to altered P-cadherin synthesis.
88 citations
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August 1998 in “Carcinogenesis” This study found that overexpression of ornithine decarboxylase and activated Ha-ras together led to a high rate of tumor development in a mouse model without additional carcinogens.
April 2018 in “Journal of Investigative Dermatology” This study observed that β-catenin overexpression in human squamous cell carcinoma cells led to increased CREB expression, which significantly enhanced clonogenic activity, suggesting CREB as a β-catenin-regulated factor promoting cancer characteristics.
11 citations
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January 2013 in “Methods in molecular biology” This study describes a method for labeling and tracking hair follicle stem cells in mouse skin using a Cre/lox recombination system with tamoxifen, providing insights into stem cell behavior and contribution to tissue regeneration.
16 citations
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December 2020 in “PloS one” In this study, WNT10A was identified as a key gene in the development and maturation of skin hair follicles in fetal Inner Mongolian cashmere goats.
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that overexpression of β-catenin in bipotent Schwann-cell precursors promotes melanocyte development in limb areas by inducing MITF and repressing FoxD3, especially during a specific developmental timeframe.
December 2019 in “Thèses en ligne de l'Université Toulouse III (Université Toulouse III)” This study found that the expression of the protein SOX2 is associated with the potential for beige adipocyte formation and adipocyte plasticity in both human and mouse models.
This dissertation reported that the loss of Ovol2 impairs hair follicle regeneration and wound repair in mice, highlighting its role in regulating directional migration of epithelial cells.
11 citations
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December 2020 in “G3 Genes Genomes Genetics” This study confirmed that chi-miR-130b-3p regulates the proliferation of epithelial cells and dermal fibroblasts by targeting the WNT10A gene, which may help maintain hair follicle structure.
July 2026 in “Journal of Investigative Dermatology”