May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
January 2008 in “US endocrinology” This paper describes the hGRα gene structure and its expression, focusing on the functional properties of the longest GRα isoform, but reports no new results.
August 2006 in “Experimental dermatology” This study suggests that human scalp hair follicles express erythropoietin and its receptor, up-regulating receptor expression under hypoxic conditions, and may mimic another hypothalamus–pituitary axis equivalent involving the TRH-TSH system.
245 citations
,
January 1998 in “Genes & Development” This study found that Hoxc13 mutations in mice cause defects in hair, nail, and tongue structures, with the most noticeable issue being brittle hair leading to alopecia.
1 citations
,
October 2000 in “Journal of Investigative Dermatology” The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.
309 citations
,
October 2007 in “Biomaterials” This study found that a biomaterial gel made from human hair keratins facilitated nerve regeneration in an animal model, potentially matching the effectiveness of traditional autografts.
260 citations
,
July 2010 in “Cell” This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.
81 citations
,
November 2012 in “Journal of the National Cancer Institute” This study found that FLCN deficiency in mice muscles led to increased mitochondrial biogenesis and a metabolic shift towards oxidative phosphorylation, with a similar advantage observed in FLCN-null kidney cancer cells.
65 citations
,
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.
47 citations
,
August 2000 in “Endocrine Reviews” This review discusses idiopathic hirsutism, potential underlying mechanisms, and various therapeutic approaches without providing new clinical results, and emphasizes the need for further research on well-defined patient groups.
36 citations
,
September 1999 in “Journal of Cell Science” This study suggests that basonuclin may act as a tissue-specific transcription factor for ribosomal RNA genes by interacting with the promoter region necessary for high transcription levels in human keratinocytes.
12 citations
,
September 2017 in “Molecular and Cellular Endocrinology” This review analyzes how androgens impact sexual desire and reproductive behaviors, emphasizing molecular interactions, but provides no new clinical results.
6 citations
,
July 2025 in “Frontiers in Microbiology” This study observed that in patients with diabetic foot ulcers, an imbalance in skin microbiota, with increased pathogenic bacteria, contributes to infection and poor wound healing, and suggests that modulating microbiota composition might improve healing outcomes.
3 citations
,
March 2017 in “Pediatric Dermatology” This case report documents the first known instance of FOXN1 duplication linked to congenital hypertrichosis.
1 citations
,
January 2020 in “Recent Research in Genetics and Genomics/Recent Research in Genetics and Genomics ” In this study, high doses of Lepidium sativum seeds extract were reported to cause toxicity and tissue damage in animals, suggesting the need for careful use under medical supervision.
January 2018 in “Elsevier eBooks” This article discusses the hypothalamus-pituitary-testis axis in androgen production and spermatogenesis but presents no new research findings.
January 2012 in “Elsevier eBooks” This chapter reviews therapies for skin and corneal regeneration and hair loss, discussing various treatments but presenting no new research findings.
May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identifies two previously unreported pathogenic RIPK4 gene variants, suggesting a functional link with cell adhesion molecules in ectodermal dysplasias.
May 2015 in “Journal of Investigative Dermatology” In this study, Wnt-3a was found to play an important role in partially maintaining and expanding epithelial skin stem cells in vitro, suggesting potential for in vitro stem cell culture without feeder cells.
7 citations
,
July 2001 in “Endocrinology” This study observed that knocking out the 1α-hydroxylase gene in mice resulted in rickets and growth retardation, demonstrating the enzyme's crucial role in vitamin D function in animals.
4 citations
,
September 2020 in “Andrologia” This study found that Origanum vulgare extract improved testicular structure and function in mice against finasteride-induced damage by enhancing antioxidant defense and modulating gene expression related to apoptosis.
1 citations
,
June 2021 in “Journal of pharmacopuncture” This study found that while CBD did not change gene expression including β-catenin in hair follicles, it restored decreased β-catenin expression in dermal papilla cells affected by testosterone or PMA, suggesting a potential modulating function on alopecia.
November 2025 in “PubMed” This study identified nine pathogenic variants in the PADI3 gene, and variants in the S100A3 and TCHH genes, which may disrupt protein function and contribute to central centrifugal cicatricial alopecia.
81 citations
,
July 2008 in “The Journal of Clinical Endocrinology and Metabolism” This study found that cortisone reductase deficiency is caused by inactivating mutations in the H6PD gene, affecting cortisol metabolism by preventing 11β-HSD1 enzyme function.
24 citations
,
September 2023 in “Science Advances” In this study, deleting the gene Mettl3 in mouse epidermal progenitors resulted in impaired epithelial development and self-renewal, highlighting m6A's crucial role in regulating chromatin modifiers and maintaining normal epithelial tissue function.
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.
2 citations
,
June 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses recent advancements in skin epigenetics, focusing on how epigenetic mechanisms regulate gene expression during normal skin function and their dysregulation in conditions like skin disorders and cancer, but reports no new clinical results.
14 citations
,
July 2019 in “Journal of Investigative Dermatology” In this study, targeted inactivation of the integrin-linked kinase gene in melanoblasts led to defects in cell migration, proliferation, and ability to populate the skin, implicating an integrin-linked kinase-Rac1 connection in melanocyte function.
4 citations
,
January 2021 in “Current Research in Physiology” This study found that high levels of μ-crystallin in skeletal muscle are associated with greater fat metabolism and a shift in gene expression towards slower muscle function.