26 citations
,
July 2019 in “Dermatology and Therapy” This article discusses genetic hair disorders in children, outlining diagnostic approaches and highlighting the significance of distinguishing isolated hair defects from those associated with syndromes, but it reports no new clinical results.
26 citations
,
August 2014 in “Genetic Testing and Molecular Biomarkers” This study suggests that the TNF-α system may contribute to hyperandrogenism, obesity, and insulin resistance in polycystic ovarian syndrome, independent of the C850T polymorphism.
24 citations
,
May 2021 in “Nature Communications” In this study, a dual recombinase-mediated genetic system showed that cavity macrophages accumulate on the surface of visceral organs during lung and liver injury but do not penetrate or contribute to tissue repair.
24 citations
,
January 2018 in “Indian Journal of Dermatology, Venereology and Leprology” This review discusses advances in molecular biology and genetics related to androgenetic alopecia and reports no new clinical results.
23 citations
,
November 2024 in “Nature” 23 citations
,
December 2013 in “Journal of Investigative Dermatology Symposium Proceedings” This study highlights rapid advances in alopecia areata treatment following the identification of genetic variants associated with increased disease risk, suggesting potential for precision medicine approaches.
23 citations
,
October 1996 in “Dermatologic clinics” This review discusses genomic and postgenomic alterations in chronic degenerative diseases and potential modulation by dietary and pharmacological agents, reporting no new clinical results.
21 citations
,
January 2018 in “PLoS Genetics” This study found that certain keratin gene mutations associated with pachyonychia congenita are linked to altered enamel structure and increased risk of dental caries.
20 citations
,
March 1975 in “Journal of steroid biochemistry/Journal of Steroid Biochemistry” This study found a direct correlation between the testicular feminization gene and decreased androgen receptor activity, potentially explaining the androgen insensitivity in affected individuals.
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.
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.
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.
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.
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
,
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.
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.
6 citations
,
February 2013 in “Medical Oncology” In this study, researchers reported that the SHBG +5790 G>A polymorphism was associated with an increased risk of developing resistance to hormonal castration in advanced prostate cancer patients.
5 citations
,
January 2024 in “The International Journal of Developmental Biology” This article reviews the diversity of lymphatic endothelial cells, related gene targeting tools, and protocols in mouse models but presents no new experimental findings.