January 2026 in “Burns & Trauma” This study reported that NLRP3 plays complex roles in wound healing by initially promoting inflammation and delaying repair, but later enhancing structural restoration through distinct signaling pathways, highlighting its potential as a therapeutic target for controlling inflammation and regeneration phases.
January 1999 in “Journal of Investigative Dermatology” 6 citations
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January 2022 in “BMC Medical Genomics” This study identified eight mutations in five genes associated with different aspects of ichthyosis among Tunisian patients, enhancing understanding of its genetic and clinical diversity.
4 citations
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January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This study identified two distinct VDR gene mutations among Lebanese families with hereditary vitamin D-resistant rickets, noting varied treatment responses and promising outcomes despite severe phenotypes.
June 2023 in “Medicine and Pharmacy Reports” A woman with a specific mutation causing adrenal gland issues faced fertility problems, but careful hormone therapy helped her manage it successfully.
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.
November 2022 in “Van Sağlık Bilimleri Dergisi” This study found no association between W locus allele variations and phenotypic traits like eye color, head spotting, and fur length in Turkish Van cats, suggesting other genetic factors should be explored.
54 citations
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November 2017 in “Scientific Reports” In this study, researchers observed that hyperandrogenic PCOS patients exhibited distinct miRNA and TGFβ signaling gene expression patterns in granulosa cells, suggesting these factors may play a role in PCOS pathogenesis.
25 citations
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July 1994 in “Journal of Cell Science” This study found that polyomavirus large T-immortalized rat dermal papilla cells retain hair-inductive ability and provide a viable model for studying hair growth and cytokine expression.
14 citations
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March 1995 in “Journal of cell science” This study found that targeting SV40 T antigen expression to hair follicles in transgenic mice caused abnormal hair structure and hair loss, but did not lead to cell immortalization or tumor formation in follicles.
9 citations
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November 2015 in “Gynecological Endocrinology” This study found that among different subtypes of PCOS based on Rotterdam criteria, group A showed higher androgen levels and hirsutism, while all subtypes had increased LH and LH/FSH compared to controls.
6 citations
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May 2012 in “Archives of Dermatological Research” This study reports a novel missense mutation in the HR gene in a 68-year-old Hungarian woman with alopecia universalis and limb deformities, suggesting a need for further research on its role in these conditions.
5 citations
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August 2021 in “Experimental dermatology” This study suggests that Merkel cell polyomavirus T antigen-positive cells resembling Merkel cell carcinoma may originate from epithelial cells in human hair follicles, potentially informing future transgenic mouse models for this cancer.
2 citations
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August 2016 in “Journal of Investigative Dermatology” 1 citations
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October 2020 in “Research Square (Research Square)” This study identified a 505-bp indel variant in the FGF5 gene associated with cashmere growth in goats, which may serve as a molecular marker in cashmere goat breeding programs.
1 citations
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April 2018 in “Rheumatology” This study found that 59.7% of lupus patients self-reported alopecia, which was linked to anti-Ro antibody presence and cutaneous SLE symptoms but not to age, ethnicity, or medication.
June 2024 in “Research Square (Research Square)” This study found that among young women in West Bengal, India, co-occurring PCOS and related conditions like estrogen resistance and leptin receptor insufficiency are common, with notable genetic variations identified, including impairments in leptin signaling and insulin resistance.
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.
June 2023 in “International Journal of Research in Medical Sciences” This case report describes the first confirmed instances of X-linked adrenomyeloneuropathy/adrenoleukodystrophy in two brothers from Bangladesh, noting their progressive neurological symptoms, MRI findings, and differing disease outcomes over several years of observation.
June 2023 in “GSC Advanced Research and Reviews” This review covers the history, symptoms, and treatment progress for Hutchinson-Gilford Progeria Syndrome, noting that while no cure exists, understanding its molecular mechanism may improve future treatment strategies.
June 2026 in “Biomedical and Therapeutics Letters” This review discusses AMH and ovarian morphology as complementary markers in diagnosing PCOS/PMOS and reports no new clinical results, highlighting the need for a multidomain approach in diagnosis and treatment.
June 2023 in “Zenodo (CERN European Organization for Nuclear Research)” This review discusses Hutchinson-Gilford Progeria Syndrome, its symptomatology, and the progress in developing treatment strategies, emphasizing that while a cure remains elusive, advances in understanding the disease's molecular mechanisms show promise for future approaches.
August 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This article reviews current treatments for alopecia areata, discussing the potential role of JAK inhibitors and noting the need for further clinical trials, but it reports no new results.
September 2021 in “European Neuropsychopharmacology” This study found that higher dihydrotestosterone (DHT) levels in the parietal region of the scalp may be linked to androgenetic alopecia's clinical presentation.
80 citations
,
June 1997 in “The American Journal of Human Genetics”
11 citations
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December 2014 in “The American journal of pathology” This study found that a genetic deletion causing truncated desmoglein 3 protein in mice led to severe pathologies, including cyclic hair loss and immunodeficiency, suggesting possible implications for human desmosome-related diseases.
5 citations
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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.
July 2026 in “Journal of Ovarian Research” In this review, researchers provided a comprehensive analysis of anti-androgen therapies for polyendocrine metabolic ovarian syndrome (PMOS/PCOS), examining their efficacy and safety while proposing a phenotype-guided management framework and highlighting research gaps, such as long-term cardiovascular safety and predictive biomarkers.
88 citations
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June 2000 in “Journal of Investigative Dermatology” Keratin 17 is important for hair and nail structure and affects pachyonychia congenita symptoms.
April 2021 in “Medical Science and Discovery” This study found that men with early androgenetic alopecia had higher levels of free testosterone, DHEAS, and LH, along with insulin resistance and higher homocysteine levels, suggesting they share risk profiles similar to PCOS in women.