5 citations
,
February 2022 in “Molecular genetics & genomic medicine” This study identified genetic variants in the DSG4 gene associated with the autosomal recessive form of monilethrix in Chinese patients, expanding the understanding of its phenotypic spectrum and clinical features.
4 citations
,
January 2017 in “Acta dermato-venereologica” A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
4 citations
,
December 2013 in “The Journal of Dermatology” This letter to the editor discusses a case of delayed-onset pachyonychia congenita linked to a new mutation in keratin 6b but presents no new research findings.
3 citations
,
August 2014 in “Journal of The American Academy of Dermatology” This article discusses the role of filaggrin gene mutations in understanding atopic dermatitis and their link to allergic sensitization but does not report new clinical results.
1 citations
,
November 2017 in “Expert opinion on orphan drugs” This review discusses the genetic basis of ectodermal dysplasia, highlighting that identification of gene pathologies enhances diagnosis and supports prenatal DNA testing, but it reports no new clinical results.
January 2025 in “Clinical Cosmetic and Investigational Dermatology” This article reports the first documented cases of Marie-Unna hereditary hypotrichosis in Egypt, highlighting the variability of genetic mutations in this rare form of congenital hair loss.
April 2024 in “American Journal of Biological Anthropology” This study suggests moving away from using rigid racial categorizations and outdated typologies in favor of analyzing detailed trait patterns, providing a foundation for future research on human variation and hair traits in relation to population affinity.
January 2024 in “Research Square (Research Square)” This study identified robust susceptibility genes and potential drug candidates for male-pattern baldness, providing insights into the condition's molecular mechanisms.
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.
February 2017 in “Cancer Causes & Control” In this study, Swedish men carrying the AR haplotype H2 were found to have a significantly lower risk of prostate cancer compared to those with the more common H1 variant.
January 2011 in “Journal of Human Genetics” This study found a severe MBTPS2 gene mutation in a Japanese IFAP syndrome patient, suggesting other factors may influence the syndrome's clinical features compared to previously studied patients.
January 2012 in “Faculty of Health; Institute of Health and Biomedical Innovation” This study found six new genetic factors linked to early-onset androgenetic alopecia and its association with increased risk of Parkinson's disease and decreased fertility.
March 2009 in “International Journal of Dermatology” This study found no association between the androgen receptor gene and type II androgenetic alopecia in Egyptian women, suggesting it is not a useful biomarker for genetic predisposition.
188 citations
,
January 2022 in “PubMed” This review discusses recent advancements in congenital adrenal hyperplasia research, including improved diagnostic techniques, alternative treatments, and insights from long-term outcome data, but it reports no new clinical results.
73 citations
,
June 2006 in “Animal genetics” This study found that a missense mutation in the FGF5 gene is associated with hair-length differences among various dog breeds.
5 citations
,
September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
1 citations
,
March 2004 in “Journal of the American Academy of Dermatology” This study reports a strong association between the MICA locus, specifically the MICA∗3-DR∗6-DQ6 haplotype, and Alopecia Areata in families.
42 citations
,
July 2013 in “Gene” This study found that intron 3 VNTR polymorphism in the IL-4 gene may be associated with an increased risk of alopecia areata in the Turkish population.
12 citations
,
June 2013 in “The Prostate” This study found that dutasteride more effectively inhibited androgen receptor signaling and reduced cell growth compared to finasteride in prostate cancer cell models, with varying sensitivities across different cell lines.
9 citations
,
May 2019 in “Medicine” This meta-analysis found that the rs2476601 SNP of the PTPN22 gene is significantly associated with reduced susceptibility to alopecia areata, with carriers of the C-allele and CC-genotype having a lower risk.
8 citations
,
October 2019 in “Immunological investigations” This study suggests that the rs2075876 variant in the AIRE gene may significantly increase susceptibility to alopecia areata in the examined male population.
4 citations
,
January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” This study found that the FSHR Ser680Asn (rs6166) gene polymorphism is associated with an increased risk of PCOS in the examined population and could serve as a molecular biomarker for identifying risk.
1 citations
,
September 2023 in “Clinical, cosmetic and investigational dermatology” This genome-wide association study identified several genetic markers, including specific SNPs and HLA genotypes, associated with alopecia areata susceptibility in the Taiwanese population, highlighting key pathways involved in immune response and offering insights into the genetic origins of this autoimmune condition.
1 citations
,
September 2021 in “Journal of Cosmetic Dermatology” This study found that the ACE gene I/D polymorphism may serve as a genetic susceptibility indicator for androgenetic alopecia in an Egyptian patient group.
1 citations
,
January 2020 in “Benha Journal of Applied Sciences” This study found that DEFB1 polymorphisms, specifically the rs1800972 CG and GG genotypes, may predict susceptibility to and severity of alopecia areata.
January 2025 in “Nutrients” In this study, researchers found that specific genetic variations at loci rs1160312, rs6113491, and rs1041668 are independent risk factors for androgenetic alopecia in men, and these risks can be influenced by diet.
June 2024 in “Current Developments in Nutrition” This population-based study found that n-3 fatty acid intake may not benefit and could potentially harm hair loss improvement in middle-aged or elderly men, as higher n-3 intake was associated with a greater risk of non-improvement in male pattern hair loss.
In this study, significant associations were observed between specific genetic polymorphisms in BDNF and CRH-R1 and the occurrence of vitiligo, along with differing serum levels of neurotransmitters between vitiligo patients and healthy controls.
June 2021 in “The American Journal of the Medical Sciences” This study found that patients with androgenetic alopecia had higher serum homocysteine levels, linked to the mutant MTHFR genotype, and an increased risk of coronary heart disease.
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.