18 citations
,
July 2010 in “Expert Review of Endocrinology & Metabolism” This study identified an association between the FTO gene and susceptibility to PCOS, providing the first genetic evidence linking PCOS to obesity.
18 citations
,
February 2006 in “Genomics” A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
17 citations
,
May 2020 in “Forensic Science International Genetics” This study found that genetically variant peptides from human hair can reliably identify individuals despite differences in age and storage conditions, provided environmental and processing factors are controlled.
17 citations
,
November 2012 in “Journal of Investigative Dermatology” This paper reviews the genetic aspects of hair disorders and suggests that understanding these genes could advance treatment and diagnosis; it reports no new experimental findings.
16 citations
,
December 2001 in “Dermatologic Therapy” This review summarizes current genetic knowledge of alopecia areata and provides a theoretical framework for future genetic mapping studies, but reports no new results.
15 citations
,
December 2017 in “Journal of Investigative Dermatology” This study identified two genome-wide significant genetic associations with seborrheic dermatitis, suggesting a potential genetic susceptibility contributing to the disease's pathogenesis.
14 citations
,
May 2013 in “American Journal of Physiology-endocrinology and Metabolism” This study found that mice lacking myelin protein zero-like 3 (Mpzl3) had reduced body weight and adiposity despite increased food intake, which was linked to higher energy expenditure and improved glycemic control.
14 citations
,
July 1994 in “Journal of Dermatological Science” In this study, transgenic mice expressing a mutant K6 gene developed progressive scarring alopecia and keratosis, suggesting they may model a new keratin disorder.
13 citations
,
December 2014 in “Stem Cells” This study found that quiescent bulge stem cells, when prevented from contributing to hair follicle and epidermal regeneration, did not affect hair follicle growth or wound healing in the short term.
12 citations
,
January 2018 in “Journal of Clinical Laboratory Analysis” This study found that IL-18 rs187238 and rs1946518 single nucleotide polymorphisms were associated with increased susceptibility to alopecia areata in a Turkish population.
12 citations
,
July 2015 in “Tissue Antigens” In this study, the AA genotype of C2 polymorphism was more frequently observed in Chinese patients with systemic lupus erythematosus than controls, indicating it may be a risk factor for the disease.
11 citations
,
April 2024 in “Allergy Asthma and Clinical Immunology” This study found compelling genetic evidence linking atopic and allergic conditions with the development of alopecia areata, suggesting a need for closer monitoring in affected individuals.
11 citations
,
November 2015 in “Carcinogenesis” In this study, researchers found that deleting TNFα in PKCε transgenic mice reduced the development of cutaneous squamous cell carcinomas induced by UV radiation or a chemical protocol.
11 citations
,
November 2012 in “Seminars in Cutaneous Medicine and Surgery” This review summarizes current understanding and genetic insights into androgenetic alopecia, female pattern hair loss, and alopecia areata, noting the potential future role of molecular diagnostics, but it reports no new clinical results.
10 citations
,
January 2023 in “Skin Appendage Disorders” This review discusses the histological features and diagnostic challenges of alopecia areata and emphasizes the need for genetic research to develop future therapeutics; it reports no new clinical findings.
10 citations
,
April 2007 in “PubMed” This review summarizes research on the synthesis and gene regulation of keratin in hair follicles, noting that coordinated gene activity is essential for hair follicle differentiation and normal hair growth, with gene clusters suggesting possible global regulatory domains.
10 citations
,
November 2024 in “Animals” This review examines the genetic challenges in improving wool and cashmere fibers, emphasizing the need for further research on wool keratins and keratin-associated proteins to enhance fiber characteristics.
10 citations
,
April 2008 in “Journal of Pediatric Surgery” In this study, researchers found that the absence of P-selectin delays inflammatory cell recruitment and reepithelialization in fetal wounds, although scar formation still occurs in later gestation wounds.
9 citations
,
January 2023 in “Journal of the European Academy of Dermatology and Venereology” This study suggests that genetic overlap between alopecia areata and major depressive disorder may be limited to the MHC region, highlighting the need for further research.
9 citations
,
February 2019 in “BMC cancer” This study found that M30 may protect against cyclophosphamide-induced alopecia in mice by enhancing hair growth and preventing abnormal hair, suggesting its potential as a treatment.
9 citations
,
January 2015 in “Current problems in dermatology” This review highlights recent genetic research advancements in understanding hereditary hair diseases but reports no new study results, emphasizing the identification of genes related to both monogenic and polygenic hair disorders.
9 citations
,
August 2013 in “PLOS ONE” This study validated that the 20p11 genetic locus is associated with increased risk of androgenic alopecia in the Chinese Han population, suggesting shared genetic factors between Chinese and European populations.
9 citations
,
May 2002 in “PubMed” This study demonstrated that mice lacking skin-specific RXRalpha expression developed hair follicle degeneration and alopecia, indicating the importance of RXRalpha/VDR heterodimers in maintaining hair follicle homeostasis.
8 citations
,
October 2023 in “Frontiers in Immunology” This study explores the potential connection between circulating cytokines and immune skin diseases, offering insights that may enhance understanding of their causes, diagnosis, and treatment approaches.
7 citations
,
November 2024 in “Journal of the American Academy of Dermatology” Genetics, hormones, and microbiome changes contribute to hidradenitis suppurativa.
7 citations
,
July 2020 in “Immunological Investigations” This study observed that the rs231775 CTLA4 genetic variant was more prevalent in Alopecia Areata patients than controls, particularly among those with severe disease.
7 citations
,
June 2020 in “Journal of The European Academy of Dermatology and Venereology” This article discusses the role of Minoxidil Sulfotransferase Enzyme (SULT1A1) genetic variants in predicting the response to oral minoxidil for treating female pattern hair loss, without presenting new research findings.
7 citations
,
December 1981 in “International Journal of Dermatology” Understanding genes can help diagnose and treat skin color disorders.
6 citations
,
April 2024 in “Journal of Investigative Dermatology” This review highlights recent advances in CRISPR-based lineage tracing methods that can improve our understanding of skin stem cell behavior, regeneration, and disease, with potential applications in organoids and model organisms.
6 citations
,
December 2015 in “International journal of immunopathology and pharmacology” A novel mutation in the SLC39A4 gene was identified in an infant with mild, incomplete acrodermatitis enteropathic symptoms, suggesting genetic testing is beneficial even without the full symptom triad.