10 citations
,
January 2019 in “Advances in Clinical and Experimental Medicine” This meta-analysis reported a significant association between vitamin D receptor gene ApaI polymorphism and polycystic ovary syndrome risk, with variations observed between Asian and Caucasian populations.
September 2024 in “Medicina” This study found that among women with PCOS, the FokI CC genotype of the VDR gene may offer protection against acne and seborrhea, while the VDR-TaqI dominant genotype is associated with reduced oxidative stress.
13 citations
,
September 2007 in “International Journal of Dermatology” This study suggests no significant association between vitamin D receptor gene polymorphisms and alopecia areata.
1 citations
,
January 2017 in “The Annals of Clinical and Analytical Medicine” In this study, researchers found no significant association between VDR gene polymorphisms and the susceptibility to alopecia areata, suggesting that these genetic variations may not play a role in the disease's development.
4 citations
,
September 2021 in “Hormone and Metabolic Research” This study found that VDR polymorphisms, particularly ApaI and FokI variants, are associated with hormonal and metabolic disturbances in women with PCOS, with notable variations across different ethnicities.
10 citations
,
September 2004 in “PubMed” In this study, no significant association was found between the VDR FokI gene polymorphism and alopecia areata, though further research in diverse populations is needed.
3 citations
,
January 2020 in “Indian Journal of Dermatology” This study found that certain VDR gene polymorphisms are more prevalent in female pattern hair loss patients than in healthy controls, suggesting these polymorphisms may increase disease risk.
97 citations
,
April 2016 in “Andrology” This review discusses the etio-pathogenetic factors in benign prostatic hyperplasia and their role in the development of lower urinary tract symptoms but reports no new research findings.
23 citations
,
April 1996 in “PubMed” This article reviews the role and clinical applications of 1,25-dihydroxyvitamin D3 and parathyroid hormone-related peptide in dermatology, with a focus on psoriasis treatment, and reports no new experimental findings.
March 2025 in “Clinical Cosmetic and Investigational Dermatology” In this study, researchers found that the "U" allele of the Tru9I variant may be associated with low vitamin D levels and altered VDR gene activity in alopecia areata patients, while the "u" allele might have a protective role against developing the condition.
47 citations
,
April 2021 in “BMC Medical Genomics” This systematic review and meta-analysis reported potential risk variants for acne in genes related to inflammation and sebaceous gland function, including TNF, CYP17A1, and FST, across diverse populations.
January 2026 in “Nutrients” This study observed that while low vitamin D levels are associated with increased risk of autoimmune thyroid diseases, evidence from clinical trials on vitamin D supplementation shows inconsistent effects on thyroid function and disease progression, underscoring the need for further research.
317 citations
,
April 2018 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” This review discusses polycystic ovary syndrome, its detection, and treatments, concluding that lifestyle changes may offer sustainable management, although it reports no new clinical results.
114 citations
,
October 2017 in “American journal of clinical dermatology” Adequate vitamin D is crucial for skin health and should be considered in dermatology.
4 citations
,
May 2025 in “Stem Cell Research & Therapy” This review explores the potential of extracellular vesicle therapy as a novel strategy to delay intervertebral disc degeneration and enhance tissue repair, by modulating key pathogenic mechanisms, with a focus on the molecular components and bioengineering modifications of extracellular vesicles.
This study found that the rs3185480 polymorphism in the APCDD1 gene was associated with an elevated risk of developing androgenic alopecia and reduced protein levels, potentially due to altered codon usage affecting translation efficiency.
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
January 2014 in “生命科学(ISSN1934-7391)” A certain gene variation can affect protein production and is linked to male pattern baldness.
3 citations
,
January 2013 in “Dermatology” This study identified novel compound heterozygous mutations in the hairless gene among a non-consanguineous Chinese family with congenital atrichia, illustrating phenotypic variations due to founder or modifier genes.
September 2025 in “Jurnal Penelitian Pendidikan IPA” In this study, researchers identified two significant genetic polymorphisms in the 3'-UTR of the HSP70 gene in Moa buffalo, which may play an important role in heat adaptation, providing insights for conservation and performance improvement in tropical climates.
January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” This study found that the IGF2 gene Apa1 A820G polymorphism is associated with an increased risk of developing PCOS in the studied population.
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.
1 citations
,
June 2011 in “Journal of Genetics” Some human genetic markers work for genetic studies in pig-tailed and stump-tailed macaques, which can help in their conservation.
48 citations
,
November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” In this study, researchers found that size polymorphisms in certain hKAP1 genes are linked to the hKAP1.1B and hKAP1.3 genes, arising from intragenic deletions and duplications in Japanese and Caucasian populations.
26 citations
,
September 2009 in “Clinical genetics” This study identified four novel and one recurrent mutation in the AIRE gene among Arab families with APS1, suggesting these contribute to the disorder.
20 citations
,
January 2002 in “Laboratory Animals” This study identified a compound heterozygous mutation in a hairless rhesus macaque, which was associated with skin abnormalities similar to those in hairless mice and humans with APL.
1 citations
,
April 2021 in “IntechOpen eBooks” This review examines genetic variation in the ovine KRTAP1.1 gene and its potential impact on wool quality, reporting no new findings but suggesting opportunities for developing gene markers for wool and pelt traits.
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.
April 2026 in “Human Genome Variation” This study identified a specific hemizygous intronic variant in the MBTPS2 gene associated with IFAP syndrome in a patient, revealing exon skipping and reduced normal transcript expression through long-read RNA sequencing.
November 2025 in “Molecular and Cellular Biomedical Sciences” This study found no significant association between the MMP-1 gene polymorphisms rs1799750 and androgenetic alopecia in the sample population.