August 2025 in “Biomedicines” In this case report, half-siblings with bullous congenital ichthyosiform erythroderma were found to have a susceptibility to Trichophyton rubrum infection, successfully treated with oral terbinafine.
99 citations
,
March 2013 in “Journal of Investigative Dermatology” This study identified ABCB6 as the first gene linked to dyschromatosis universalis hereditaria (DUH) in a large Chinese family, suggesting it plays a role in skin pigmentation.
47 citations
,
June 2011 in “Movement Disorders” The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
2 citations
,
May 2023 in “Journal of Advanced Research” In this study, researchers identified two genetic mutations associated with producing finer and denser wool in fine-wool sheep, involving the genes KRT74 and EDAR, which may guide future breeding efforts to enhance wool quality.
October 2024 in “Frontiers in Nutrition” This study found that patients with alopecia, particularly alopecia areata and female pattern hair loss, often have vitamin D deficiency, suggesting that screening for vitamin D could benefit these patients.
5 citations
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May 2023 in “European Journal of Human Genetics” This study found that mutations in the TULP3 gene are associated with progressive degeneration of the liver, kidney, and heart in adults, highlighting the importance of early detection and management.
53 citations
,
January 2013 in “Journal of toxicologic pathology” This publication provides a standardized nomenclature for classifying microscopic lesions in laboratory rat and mouse skin, aiming to harmonize international toxicological research.
17 citations
,
September 2019 in “Journal of Cell Biology” This study found that despite carrying an activating Hras mutation, hair follicle stem cells integrate into normal skin without causing tumors, unlike similar mutations in the epidermis, suggesting unique tumor-suppressing mechanisms in hair follicles.
3 citations
,
January 2022 in “Journal of Infection” This article discusses intra-host single-nucleotide variants in SARS-CoV-2, highlighting their potential to inform on virus strain diversity, immune escape, and drug design, but it reports no new clinical results.
31 citations
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June 2011 in “Movement Disorders” The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
June 2022 in “International journal of research and review” This study highlights the increasing prevalence of hyperuricemia as a metabolic and vascular disorder due to lifestyle changes, emphasizing the need for early diagnosis of prehyperuricemia to prevent related non-communicable diseases and complications.
4 citations
,
May 2011 in “Movement Disorders” A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
2 citations
,
September 2022 In this study, researchers found that a PER3 gene SNP may be pathogenic for a new subtype of dyschromatosis universalis hereditaria, especially when combined with a SASH1 mutation.
13 citations
,
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
,
December 2021 in “Frontiers in Cell and Developmental Biology” This review outlines how peptidyl arginine deiminases (PADIs) and protein citrullination are involved in hair follicle regeneration and inflammatory alopecia, but presents no new clinical findings.
1 citations
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September 2023 in “Animals” This study found that genetic variants in the goat KRTAP22-2 gene are associated with the mean fiber diameter of cashmere in Longdong Cashmere goats, suggesting these variants could serve as molecular markers for improving cashmere traits.
This study found that the survival and proliferation of mouse melanocytes expressing the GNAQQ209L oncogene were impaired by interactions with the epidermal microenvironment, suggesting a possible mechanism for the rarity of these mutations in epidermal melanomas.
19 citations
,
June 2020 in “BMC Cancer” This study reported that genetic changes in trichilemmal carcinoma resemble those in other skin cancers, with TP53 mutations associated with aggressive clinical outcomes.
2 citations
,
May 2023 in “Veterinary Pathology” This article outlines methods to study the skin and its molecular traits, focusing on interpretation and techniques applicable to mouse models, including diverse assays and approaches like electron microscopy and large-scale lipid analyses.
1 citations
,
December 2022 in “BMC Genomics” This study found that the Msx2 gene may regulate goose feather follicle development by influencing cell viability and gene expression, with potential implications for improving down production.
August 2025 in “American Journal of Dermatopathology” In this study, researchers presented cases of cellular neurothekeoma in three male family members with early-onset in infancy, suggesting a potential genetic component and inheritance pattern, which deviates from the typical presentation seen mostly in women between 20–30 years.
46 citations
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May 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses the state-of-the-art knowledge on pseudoxanthoma elasticum, summarizing recent advancements in genetics, pathomechanisms, and potential treatments but reports no new clinical findings.
36 citations
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March 2019 in “European Journal of Human Genetics” This study found genetic variations, including de novo variants and copy number variations, that may be associated with phenotypic discordance in monozygotic twins with various clinical conditions.
95 citations
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February 2019 in “The New England Journal of Medicine” This article discusses the potential genetic basis of central centrifugal cicatricial alopecia in women of African ancestry but does not provide new research results.
1 citations
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January 2019 in “Springer eBooks” Hidradenitis Suppurativa is a chronic skin condition best treated early with surgery for better outcomes and less recurrence.
295 citations
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September 2006 in “Cell Cycle” This review discusses the role of the TOR pathway in aging and suggests that rapamycin could potentially target age-related diseases, but reports no new clinical results.
60 citations
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September 2001 in “Journal of the American Academy of Dermatology” This review discusses the relationship between insulin regulation and hyperandrogenemia in polycystic ovary syndrome, suggesting potential benefits of insulin-lowering treatments for ovarian function but reporting no definitive results for hair-related symptoms.
32 citations
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January 2017 in “Orphanet journal of rare diseases” This article reviews the genetic basis, diagnostic approaches, and treatment options for nude severe combined immunodeficiency, but does not present any new research findings.
January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” This article presents an overview of uncombable hair syndrome, emphasizing its clinical and molecular characteristics and noting systemic manifestations such as neuropsychiatric, ophthalmic, and cardiopulmonary issues.
April 2024 in “Cell death and differentiation” This study discusses how different modes of regulated cell death in keratinocytes affect skin stem cell niches, and their role in skin inflammation, injury repair, and cancer, based on findings from human dermatological conditions and experimental mouse models.