6 citations
,
May 2021 in “Clinical Chemistry and Laboratory Medicine” This review discusses the impact of ACE polymorphism on COVID-19 severity, suggesting it affects adults more than children, but presents mixed findings concerning infection prevalence and mortality.
44 citations
,
December 2005 in “Journal of Investigative Dermatology” This study found significant associations between certain MICA variants and haplotypes with alopecia areata, suggesting MICA as a potential candidate gene linked to the disease's susceptibility and severity.
7 citations
,
November 2018 in “Journal of the American Academy of Dermatology” This study aimed to characterize alopecia areata patients experiencing poliosis by comparing their clinical parameters to those without poliosis.
February 2024 in “Zagazig University Medical Journal” This study found that TCF7L2 gene polymorphism is linked to alopecia areata, but no significant difference in treatment outcomes was observed between PRP and conventional therapy among different genotypes.
36 citations
,
July 2007 in “Journal of Investigative Dermatology” This study observed a strong negative association between the HLA-DQB1*0201 allele and the alopecia totalis/alopecia universalis phenotype in Caucasian individuals, indicating a potential protective role.
April 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This research presents the Dodatek A model, elaborating on androgen function through new mathematical indices and methodological improvements, shifting focus from serum hormone concentrations to system interactions to better describe androgen activity comprehensively.
October 2025 in “Scientific Reports” In this study of 131 healthy men aged 30 to 45, no relationship was found between androgen receptor gene polymorphisms related to androgen sensitivity and biological age markers, suggesting that other factors may influence the aging process independently of these genetic variations.
March 2011 in “Pigment Cell & Melanoma Research” This study found that changes in the expression of the Agouti gene contribute to the pale pigmentation in beach mice, with implications for melanocyte development and localization.
98 citations
,
June 2008 in “Human mutation” This study found that a genetic variant in the EDAR gene leads to typical East Asian hair characteristics by increasing signaling output, as shown in transgenic mice experiments.
60 citations
,
April 1998 in “Baillière s Clinical Endocrinology and Metabolism” This article reviews the genetic mutations causing male pseudohermaphroditism from 17 beta-HSD-3 and 5 alpha-RD-2 deficiencies and reports no new clinical findings.
1 citations
,
April 2024 in “Science Advances” In this study, researchers found that the female plumage color variations in the common cuckoo are linked to the female-restricted genome and suggest this pattern is maintained by balancing selection, sharing ancestry with the oriental cuckoo.
2 citations
,
May 2019 in “Small ruminant research” This study identified polymorphisms in HGT-KRTAP7-1 and KRTAP8-1 genes in Argentine llamas that may impact fiber characteristics by altering amino acid residues critical for keratin-associated protein properties.
10 citations
,
August 2011 in “Clinics” This article presents a dissenting opinion, arguing that the case described by Dr. Molina et al. was diffuse alopecia areata, not acute alopecia areata as claimed, emphasizing the importance of distinct clinical differences.
54 citations
,
November 2001 in “Urology” This review discusses the association between androgen receptor CAG repeat polymorphism and several health conditions, including Kennedy’s disease and urologic disorders, without reporting new clinical results.
4 citations
,
January 2011 in “Annals of Dermatology” This article discusses the role of HR gene mutations in differentiating atrichia with papular lesions from alopecia universalis, but presents no new experimental results.
11 citations
,
December 2013 in “International Journal of Dermatology” This study found that variations in the IL16 gene, specifically SNPs rs17875491 and rs11073001, may be associated with increased risk and phenotype expression of alopecia areata in the Korean population.
47 citations
,
August 2014 in “The Journal of Clinical Endocrinology and Metabolism” This study suggests that variations in PCOS phenotypes observed across different ethnic groups may be due to a genetic gradient resulting from historical human migrations and genetic drift.
August 2016 in “Journal of Investigative Dermatology” This case report identifies a novel LIPH gene mutation linked to autosomal recessive woolly hair/hypotrichosis in a Japanese boy, expanding the spectrum of known mutations associated with this condition.
January 1996 in “Studia iuridica” This study identified two novel point mutations in the hHb6 gene associated with monilethrix, suggesting these mutations could serve as diagnostic markers for this genetic hair disorder.
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.
January 2009 in “Egyptian Journal of Medical Human Genetics” This study, conducted among Egyptians, found a borderline significant association between the Stul polymorphism of the androgen receptor gene and androgenetic alopecia in males, with higher androgen receptor expression in balding scalp areas.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a specific genetic variant in the CCHCR1 gene that may contribute to alopecia areata through impaired keratinization, suggesting an alternative mechanism beyond autoimmune causes.
53 citations
,
June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This article reviews extensive genetic polymorphisms in the keratin-associated proteins of human hair, indicating complexity but reporting no new clinical results and calls for further research on their potential impact on hair structure.
19 citations
,
March 1997 in “Journal of Cutaneous Pathology” This study observed that patients with alopecia areata often have a T-cell receptor repertoire in skin lesions that suggests a specific antigen-driven immune response may be important in the disease's pathogenesis.
This study reported the genotypic and allelic frequencies of seven SNPs associated with androgenetic alopecia in Mexican individuals, highlighting significant differences in one SNP between cases and controls in Western Mexico.
60 citations
,
October 2009 in “Dermatology” This article proposes a hypothesis for alopecia areata hair loss patterns and provides epidemiological evidence supporting distinct hair loss characteristics between general cases and those with androgenetic alopecia; it presents no new clinical results.
January 2026 in “Frontiers in Molecular Biosciences” This study identified a four-gene loop as a non-invasive biomarker that selectively activates in alopecia areata, providing a precise target for JAK inhibitor treatments.
14 citations
,
December 2016 in “Sexual Medicine” This study identified differences in adverse symptoms among patients with post-finasteride syndrome based on short and long androgen receptor gene polymorphisms.
11 citations
,
August 2010 in “Developmental neurobiology” This study suggests that Ptprq in the hair bundles may exist as multiple isoforms that are differentially expressed throughout development and affect the organization of stereocilia in the chick inner ear.
30 citations
,
December 1996 in “Journal of Investigative Dermatology”