September 2016 in “Journal of Dermatological Science” This study reports a case of GGCX syndrome in a 55-year-old Japanese male, characterized by PXE-like symptoms and coagulation deficiency, with an unreported phenotype of possible spinocerebellar degeneration.
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.
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.
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.
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.
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.
1 citations
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December 2015 in “Balkan Journal of Medical Genetics” This study found no significant difference in the prevalence of CYP21A2 mutations between couples with unexplained fertility problems and healthy controls, but identified an association between the c.290-13A/C>G mutation and clinical issues like hormone deviations and polycystic ovary syndrome.
April 2023 in “International journal of molecular sciences” This study found that scalp disorders, such as hair loss and itching, can be associated with collagen VI mutations, thus highlighting the need to investigate scalp involvement in these patients.
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.
June 2003 in “Obstetrical & Gynecological Survey” This study observed that the size of vaginal prolapse in patients was significantly related to both the preoperative vaginal length and the length of vaginal excision during the Michigan four-wall sacrospinous suspension procedure.
January 1999 in “Journal of Investigative Dermatology” January 2025 in “Fìzìologìčnij žurnal” This study found that in patients with elevated fibrinogen levels undergoing revision rhinoplasty, PDRN decreased M1 cytokines and increased M2 cytokines, potentially offering a new therapeutic approach, but further research is needed to understand its mechanisms and effects fully.
May 2019 in “CINECA IRIS Institutial Research Information System (University of Genoa)” This study found that patients with the MITF p.E318K variant are more likely to develop multiple primary melanomas and dysplastic nevi with uncommon dermoscopic patterns compared to non-carriers.
80 citations
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June 1997 in “The American Journal of Human Genetics” 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.
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.
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.
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.
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.
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.
2 citations
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August 2016 in “Journal of Investigative Dermatology”
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.
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.
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.
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.
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.
13 citations
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October 2024 in “Scientific Reports” In this study using data from young women in West Bengal, India, the researchers identified that leptin signaling impairment, insulin resistance, and specific gene mutations significantly contribute to PCOS, with obesity commonly manifesting in affected individuals.
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.
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.
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.