5 citations
,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This article discusses junctional epidermolysis bullosa caused by COL17 deficiency, noting a lack of experimental therapies and the impact of nonsense mutations, but it reports no new clinical results.
December 2023 in “American journal of medical genetics. Part A” In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.
5 citations
,
January 2025 in “Nature Reviews Nephrology”
106 citations
,
March 2013 in “Nature Communications” This study found several microRNA-related genetic variants linked to epithelial ovarian cancer risk, with a notable association at the 17q21.31 region, suggesting potential new susceptibility genes.
3 citations
,
April 2021 in “Biomolecules & Therapeutics” In a mouse model of chemotherapy-induced alopecia, this study found that enhancing ETV2 expression improved angiogenesis and hair regrowth following 5-fluorouracil treatment.
26 citations
,
May 2012 in “Cellular and Molecular Life Sciences” This review discusses the structure, expression, regulation, and potential roles of NcoA4 in cancer and other pathologies, reporting no new experimental findings.
14 citations
,
February 2018 in “Psychoneuroendocrinology” This study found that male 5α-reductase 2 knockout mice showed deficits in social dominance behaviors and reduced dopamine receptor binding in a brain region related to social ranking.
30 citations
,
June 2021 in “British Journal of Dermatology” This review discusses the association between WNT10A gene variants and various ectodermal disorders, highlighting their clinical relevance in dermatology and dentistry, but reports no new findings.
46 citations
,
May 2003 in “Mechanisms of Development” This study found that overexpression of the calcium sensing receptor in transgenic mice accelerates epidermal differentiation and hair growth, suggesting its role in enhancing calcium signaling and interaction with other pathways.
14 citations
,
March 2016 in “Mechanisms of Development” This study found that BNC2 is critical for hair follicle regeneration and other developmental processes, as Bnc2−/− mice exhibit incomplete hair follicle development and developmental defects, and BNC1 cannot substitute for BNC2.
11 citations
,
September 2011 in “Biochemical journal” This study found that neurotrophin-4 regulates Cav3.2 T-current expression in D-hair neurons via TrkB receptor activation, highlighting its role in mechanosensitive function.
44 citations
,
September 2016 in “American Journal Of Pathology” This study identified a subpopulation of neural crest-derived progenitor cells in human corneal endothelial tissue from normal and Fuchs endothelial corneal dystrophy donors, which may have potential for future cell therapy development.
10 citations
,
October 2018 in “Journal of molecular and cellular cardiology/Journal of Molecular and Cellular Cardiology” This study identified NM_026333 as a potential anti-aging gene that, when induced, may alleviate proton-induced aging symptoms in CF6-overexpressing and high salt-fed mice.
March 2008 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” This study found that a positive feedback loop involving RHD2, reactive oxygen species, and calcium ions helps maintain root hair growth sites and influences cell shape in Arabidopsis thaliana.
January 2025 in “Dermatology Reports” This case report describes a 61-year-old Italian man with a rare, localized variant of junctional epidermolysis bullosa linked to the R795X mutation in the COL17A1 gene, highlighting the importance of precise diagnosis for effective management of rare genetic disorders.
4 citations
,
January 2023 in “Journal of Clinical Investigation” This study identified a recurrent mutation in the endothelin receptor type A associated with mandibulofacial dysostosis with alopecia, and proposed a mechanism involving increased ligand affinity due to structural changes.
37 citations
,
August 2015 in “The Journal of Steroid Biochemistry and Molecular Biology” This study found that in a mouse model with hereditary 1,25-dihydroxyvitamin D resistant rickets, a mutant vitamin D receptor lacking hormone-binding ability could restore normal hair cycling and affect parathyroid hormone regulation.
9 citations
,
May 2002 in “PubMed” This study demonstrated that mice lacking skin-specific RXRalpha expression developed hair follicle degeneration and alopecia, indicating the importance of RXRalpha/VDR heterodimers in maintaining hair follicle homeostasis.
January 2018 in “Stem cell biology and regenerative medicine” This paper reviews the role of ATP-dependent chromatin remodeling complexes in epidermal homeostasis, hair regeneration, and skin repair, noting contributions to 3D-genomic organization and suppression of UV-induced hyper-proliferation, without presenting new results.
4 citations
,
July 2020 in “Research Square (Research Square)” This study provided the crystal structure of the human steroid 5α-reductase 2 enzyme and identified key molecular mechanisms for testosterone reduction and finasteride inhibition, aiding in understanding disease-causing mutations and potentially facilitating new drug development.
1 citations
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May 2020 in “Beilstein Journal of Organic Chemistry” This study developed a novel smart deoxyribozyme-based fluorescent sensor that efficiently detects androgen receptor mRNA with high selectivity and can be adapted to target various nucleic acid sequences.
March 2021 in “Medico-Legal Update” In this study, no significant change in androgen receptor gene expression was found in females with recurrent spontaneous abortion, but a mutant genotype may offer some protection against the condition.
February 2026 in “bonndoc (University of Bonn)” This study identified novel genetic variants related to rare skin and hair disorders, expanding the understanding of conditions like COLED, EV, and monilethrix, including a newly discovered type I keratin gene, KRT31, as a cause for monilethrix.
January 2025 in “Repository of Digital Objects for Teaching Research and Culture (University of Valencia)” This research highlights the potential of non-coding RNAs as biomarkers and therapeutic targets in dermatology, while experimental studies on a unique GVM case suggest CCM2L may modulate disease severity, advancing understanding of genetic mechanisms in rare skin disorders.
1 citations
,
January 2022 in “European Journal of Pharmacology” In this study, FMN was found to inhibit androgen receptor function and androgen-regulated gene expression in prostate cancer cells, suggesting potential as an antiandrogen therapy.
1 citations
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September 2010 in “UEF eRepo (University of Eastern Finland)” This study provides insight into AR-mediated gene activation and the molecular mechanisms of prostate cancer progression and drug resistance, identifying potential avenues for developing new therapies.
114 citations
,
September 1985 in “Journal of Investigative Dermatology” 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.
1 citations
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January 2019 in “British Poultry Science” This study found that specific genes related to vascular endothelial growth factors are critical for feather maturity in certain chicken breeds, identifying key genetic markers that could enhance breeding efficiency.
74 citations
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October 2012 in “The American Journal of Human Genetics” This study found that loss-of-function mutations in the HOXC13 gene cause autosomal-recessive pure hair and nail ectodermal dysplasia, emphasizing its role in hair and nail development.