September 2022 in “Annals of medicine and surgery” This case report discusses the diagnostic challenges and management options for three siblings with 46, XY DSD due to type 2 5-α reductase deficiency, highlighting the genetic basis and impact on their quality of life.
January 2026 in “Nature Reviews Urology” December 2025 in “Cosmetics” This review synthesizes recent molecular and preclinical advances in alopecia areata and androgenetic alopecia, highlighting how interventions targeting specific intracellular signaling pathways and utilizing stem cell technologies can support precision regrowth and structural follicle reconstruction.
August 2010 in “The Journal of urology/The journal of urology” This article discusses the potential role of dutasteride in prostate cancer prevention, examining its effects on risk, but does not report new clinical findings.
October 2017 in “The Indian Journal of Animal Sciences” This study found that prolactin gene polymorphism in Changthangi goats showed no significant association with Cashmere quality traits, indicating the need for further research with larger sample sizes.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” This study suggests that the DNMT3B -579 G>T polymorphism may be a genetic risk factor for colorectal cancer in the Azerbaijani population.
28 citations
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August 2014 in “Journal of Assisted Reproduction and Genetics” This study found that the VEGF +405G/C polymorphism may be an inheritable risk factor for polycystic ovary syndrome in south Indian women.
1 citations
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May 2011 in “DOAJ (DOAJ: Directory of Open Access Journals)” In this study, researchers detected all three genotypes associated with the MLPH gene's R199H polymorphism in a population of Czech pointer dogs, which is linked to coat color dilution.
5 citations
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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.
August 2026 in “Ebers Papyrus” This study concluded that allele-specific PCR (AS-PCR) is more reliable than tetra-primer ARMS-PCR for genotyping the SNP rs1998076 due to better stability and interpretability.
6 citations
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December 2022 in “Journal of Infection” In this study, the ACE1 rs1799752 polymorphism was not found to predispose COVID-19 survivors to long-COVID symptoms, supporting previous findings that ACE2 and TMPRSS2 variants also do not influence post-COVID conditions.
October 2022 in “Journal for Research in Applied Sciences and Biotechnology” This study found that polymorphism of the SHBG gene (rs1799941) is associated with an increased risk of Polycystic Ovary Syndrome in Iraqi women.
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.
4 citations
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April 2019 in “Gynecological Endocrinology” This study found that the rs 1570360 polymorphism and the T-G-C haplotype of the VEGF gene may be associated with a protective factor against polycystic ovary syndrome in a Brazilian population.
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.
September 2016 in “Journal of Dermatological Science” This study identified that in Japanese patients with autosomal recessive woolly hair/hypotrichosis, the c.736T > A LIPH mutation is associated with a mild phenotype, while the c.742C > A mutation may lead to severe baldness.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” This case report describes a 46,XY female patient with a novel homozygous nonsense mutation in the LHCGR gene, highlighting the need for molecular analysis in disorders of sexual development.
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.
5 citations
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January 2020 in “Bioscience Reports” This meta-analysis suggests that certain VEGF gene polymorphisms may be linked to polycystic ovary syndrome risk, potentially serving as early detection biomarkers.
53 citations
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May 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study identified multiple mutations in the 5 alpha-reductase-2 gene among male pseudohermaphrodites in the Dominican Republic, suggesting they do not share a common ancestry.
11 citations
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April 2019 in “Bioscience Reports” In this study, single nucleotide polymorphisms in the RAB5B gene were linked to an increased risk of polycystic ovary syndrome and associated with specific microRNA binding sites.
8 citations
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March 2011 in “Endocrine” In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.
1 citations
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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.
7 citations
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February 2011 in “Journal of dermatology” This study identified a specific LIPH gene mutation (736T>A) as common in Japanese patients with autosomal recessive woolly hair/hypotrichosis, potentially indicating its role in the condition's manifestation within this population.
80 citations
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June 1997 in “The American Journal of Human Genetics”
4 citations
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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.
9 citations
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February 2018 in “The Journal of Dermatology” This study identified a novel splice site mutation in the LIPH gene associated with autosomal recessive woolly hair, contributing to understanding the genetic basis of this condition.
10 citations
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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.
35 citations
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August 2006 in “Molecular genetics and metabolism” This study found significant variation in tissue mutant load in individuals with the T8993G mutation, which complicates genetic counseling and may inform genotype-phenotype correlations, especially using hair bulb mtDNA analysis.