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.
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 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.
12 citations
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August 2011 in “Asian-Australasian Journal of Animal Sciences” This study found that polymorphisms in the KAP8.1 gene were significantly associated with cashmere weight, length, and guard hair length in Chinese Inner Mongolian Cashmere goats, but not with fibre diameter.
October 2021 in “Postepy Dermatologii I Alergologii” In this study, researchers found no significant association between selected CYP19A1 and ESR2 gene SNPs and female androgenetic alopecia in the Polish population studied.
October 2024 in “Journal of the Endocrine Society” This study found that certain CYP21A2 mutations significantly reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia phenotypes, which may aid in enhancing diagnosis and treatment strategies.
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.
8 citations
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December 2017 in “Small Ruminant Research” This study reports that variation in the ovine TCHH gene may influence wool fibre curvature, with specific gene variants affecting the mean fibre curvature in sheep.
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.
2 citations
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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.
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.
53 citations
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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.
20 citations
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May 2013 in “International Journal of Molecular Medicine” This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.
May 2026 in “Research Square” This research reports that the polyG fragment within the Hoxc13 protein alters its gene regulatory functions, which could have influenced mammalian hair evolution by affecting pathways related to hair follicle development.
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.
1 citations
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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.
August 2023 in “Sabuncuoglu Serefeddin Health Sciences” This study investigated genetic markers for alopecia areata in the Turkish population, finding that the CT60 polymorphism might be linked to increased susceptibility, while no such association was found for the +49AG polymorphism; further studies are needed to confirm these findings.
51 citations
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December 2006 in “Mammalian Genome” 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.
6 citations
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March 2007 in “BioTechniques” This study observed that PCR-based genotyping for cre-loxP mice can lead to errors due to cre-mediated recombination in non-target tissues like tails, affecting the detection of lox alleles.
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
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May 2018 in “The Indian Journal of Animal Sciences” This study suggests that the KAP 7 gene may serve as a potential molecular marker for genetic selection to improve staple length and greasy fleece weight in Rambouillet sheep.
September 2018 in “Fertility and Sterility” In this study, researchers observed that overweight Taiwanese women with PCOS who carry the HSD3B1 1245C allele have a significantly higher risk of developing androgenic alopecia compared to those with the wild-type allele.
97 citations
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March 2002 in “Molecular and cellular biology” This study found that mice with a mutant CDP/Cux protein lacking the homeodomain showed severely impaired growth, high postnatal mortality, and reduced fertility, highlighting CDP/Cux's role in developmental regulation.
April 2025 in “International Journal of General Medicine” This study found that among COVID-19 patients, a higher presence of the G allele in the IFITM3 rs12252 polymorphism correlates with increased inflammatory markers and disease severity, noting higher ESR, CRP, Fibrinogen, LDH, and D-dimer levels in severe cases compared to mild ones.
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.
13 citations
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November 2018 in “Animal Genetics” This study suggests that a newly identified KRT 71 gene variant may be responsible for curly hair in Curly Coated Retrievers and potentially contributes to follicular dysplasia.
9 citations
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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.
6 citations
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March 1996 in “Journal of Investigative Dermatology” 12 citations
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March 2012 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This study observed that some patients with homozygous c.736T>A mutation in LIPH may have mild hypotrichosis with long hairs in adulthood.