11 citations
,
July 2014 in “Gene” This study reports a unique case of common variable immunodeficiency with autoimmunity linked to a heterozygous S250C variant in the autoimmune regulator gene, suggesting a potential molecular basis for this combination.
11 citations
,
March 2014 in “Journal of Investigative Dermatology” In this study, basal cell carcinoma developed in Ptch-deficient mice only after chemical treatment, not skin wounding, suggesting a second unknown event is necessary for tumor formation.
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.
11 citations
,
January 2001 in “Cambridge University Press eBooks” This article discusses cultural significance and psychological effects of hair growth variations but provides no new clinical findings.
10 citations
,
January 2020 in “Advances in Dermatology and Allergology” This study suggests that the gene rs27647 polymorphism may play a role in the pathogenesis of severe acne vulgaris in post-adolescent male patients.
10 citations
,
November 2017 in “Journal of Investigative Dermatology” In this study, researchers identified a novel homozygous variant in the FAM83G gene responsible for autosomal recessively inherited palmoplantar keratoderma with curly hair in a consanguineous Pakistani family, suggesting FAM83G plays a crucial role in skin and hair homeostasis.
10 citations
,
January 2009 in “Elsevier eBooks” This review discusses the structure, functions, and growth cycle of human hair, emphasizing its reduced growth and protective roles, and reports no new research findings.
9 citations
,
September 2018 in “Journal of Photochemistry and Photobiology B-biology” This study demonstrated that combining l-cystine and thiamin in a formulation may protect against UV-induced damage in growth-limited human epidermal keratinocytes in vitro.
9 citations
,
April 2024 in “Cureus” This study outlines the features and diagnosis of Vogt-Koyanagi-Harada disease, highlighting its association with specific genes, its prevalence among pigmented races, and treatment with systemic steroids and immunosuppressants.
9 citations
,
March 2020 in “Gene” In this study, certain genetic variations in the ESR1 and ESR2 genes were strongly associated with polycystic ovary syndrome and related metabolic issues in Tunisian women.
9 citations
,
April 2006 in “American Journal of Pathology” This study found that mutations in the Sgk3 gene cause defective hair follicle development and altered hair cycling in mice, with variable phenotypic outcomes depending on different dysfunction patterns of the SGK3 protein.
9 citations
,
June 2000 in “Journal of The American Academy of Dermatology” This study reported that heterozygous carriers of a mutation in the human hairless gene did not differ from healthy homozygotes in the pattern of androgenetic alopecia.
8 citations
,
April 2020 in “European Journal of Nutrition” This study found that newborn hair caffeine content reflects maternal caffeine intake during the third trimester, providing a potential method for assessing fetal caffeine exposure.
8 citations
,
December 2020 in “Scientific reports” This study examined the genetic basis for the curly hair trait in Mangalitza pigs, finding two specific genetic variants that contribute to this distinctive phenotype through autosomal dominant inheritance.
8 citations
,
June 2012 in “PloS one” This study found that the Plcd3(mNab) mutation in mice worsens the alopecia caused by Plcd1 loss, suggesting synergistic effects between Plcd1 and Plcd3 on hair follicle health.
7 citations
,
January 2003 in “Nippon Ishinkin Gakkai Zasshi” This case report from Japan detailed a 10-year-old girl with alopecia successfully treated with daily terbinafine, identifying Trichophyton tonsurans as the causative fungus.
5 citations
,
January 2016 in “Genetics and molecular research” In this study, a specific SNP in the A2M gene of Murrah buffaloes was significantly associated with increased fat production and higher fat and protein percentages in milk.
4 citations
,
May 2012 in “Tissue Engineering and Regenerative Medicine” This study demonstrated the potential of epithelial cell scaffolds fabricated with various materials for effective hair regeneration, highlighting their promising application in tissue engineering for alopecia treatment.
4 citations
,
September 2006 in “European Journal of Clinical Pharmacology” This study concluded that finasteride 1 mg does not significantly affect the metabolism of omeprazole in young healthy Japanese male extensive or poor metabolizers for CYP2C19.
2 citations
,
March 2023 in “Research Square (Research Square)” This review discusses existing forensic DNA phenotyping panels for biogeographical ancestry and externally visible characteristics and highlights major technical limitations, including terminology issues, genetic knowledge gaps, and technological debates; it reports no new results.
2 citations
,
June 2000 in “Journal of The American Academy of Dermatology” In this study, researchers found that heterozygous carriers of a mutation in the hairless gene showed no difference in the pattern of androgenetic alopecia compared to unaffected individuals.
1 citations
,
November 2015 in “Indian Journal of Clinical Biochemistry” The conference presented findings on how vitamin D levels, genetic factors, and lifestyle choices like smoking and yoga affect various health conditions and diseases.
1 citations
,
October 2013 in “Our Dermatology Online” This study found that individuals in this Egyptian cohort carrying the leucine (L) allele of the 5-α reductase type II enzyme had a higher risk of developing androgenetic alopecia, which may be associated with oxidative stress.
1 citations
,
May 2011 in “Molecular Medicine Reports” This study found no association between the -866G/A polymorphism in the UCP2 gene and the development of polycystic ovary syndrome.
1 citations
,
January 2009 in “CRC Press eBooks” This chapter discusses the increasing prevalence of overactive bladder in aging men, examining potential causes and treatment options, without reporting new clinical results.
January 2023 in “Surgical & Cosmetic Dermatology” This study examined the effectiveness of using intradermotherapy, with or without microneedling and topical solutions, in reducing hair loss among men with androgenetic alopecia, though results are not reported in the abstract.
January 2018 in “Stem cell biology and regenerative medicine” This review discusses how the nuclear lamina integrates biochemical and mechanical signals to influence gene expression and skin homeostasis, but reports no new clinical results.
July 2025 in “Indian Journal of Forensic Medicine & Toxicology” This review highlights how the development of forensic DNA phenotyping systems like IrisPlex, HIrisPlex, and HIrisPlex-S has advanced criminal investigation by accurately predicting physical traits such as eye, hair, and skin color from DNA, thereby improving the precision and relevance of forensic applications.
March 2025 in “OncoTargets and Therapy” This study found that in circulating tumor cells from non-invasive liquid biopsies, the GG genotype of the CYP3A5 A6986G affects longer disease-free survival in DLBCL patients, highlighting the significance of circulating biomarkers for prognostic evaluation.
October 2023 in “Benha Journal of Applied Sciences” This review evaluates the role of the nuclear receptor PPAR- in skin diseases, highlighting its regulation of inflammation, lipid metabolism, and immune response, and suggests that PPAR-agonists could be promising therapies for conditions like psoriasis and atopic dermatitis.