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.
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.
July 2020 in “RePub (Erasmus University, Rotterdam)” This thesis analyzed four skin aging features and their relationships with lifestyle, physiological factors, and genetics.
80 citations
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June 1997 in “The American Journal of Human Genetics” April 2026 in “The Journal of Steroid Biochemistry and Molecular Biology” 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.
53 citations
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September 1999 in “The journal of cell biology/The Journal of cell biology” In this study, expressing human K16 in the epidermis of K14 null mice prevented early skin blistering but led to age-related anomalies, indicating K16 and K14 have distinct roles despite their sequence similarity.
15 citations
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April 2022 in “Ginekologia Polska” Higher thyroid hormone levels may be linked to certain types of polycystic ovary syndrome.
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.
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.
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.
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.
50 citations
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January 2016 in “The Journal of Clinical Endocrinology and Metabolism” This study found that miRNA expression profiles in follicular fluid are altered in women with PCOS, with certain miRNAs potentially useful for distinguishing patient subtypes and contributing to understanding PCOS heterogeneity.
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.
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.
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.
25 citations
,
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
,
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.
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.
January 1999 in “Journal of Investigative Dermatology” 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.
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.
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.
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.
4 citations
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October 2020 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” This study suggests that IL-4 and IL-13 may play a role in the immunopathogenesis of alopecia areata in some patients, indicating a possible Th2-driven pathway in this condition.
February 2021 in “PARIPEX INDIAN JOURNAL OF RESEARCH” This study found that women with PCOS had a higher prevalence of hypothyroidism compared to those without PCOS, especially among the obese PCOS subgroup.
April 2016 in “Journal of The American Academy of Dermatology” Both atopy and eosinophilia are linked to more severe hair loss in people with alopecia areata.
2 citations
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August 2016 in “Journal of Investigative Dermatology”
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.