54 citations
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November 2017 in “Scientific Reports” In this study, researchers observed that hyperandrogenic PCOS patients exhibited distinct miRNA and TGFβ signaling gene expression patterns in granulosa cells, suggesting these factors may play a role in PCOS pathogenesis.
May 2023 in “Zenodo (CERN European Organization for Nuclear Research)” This study highlights the potential of forensic DNA phenotyping using Next Generation Sequencing to predict eye, hair, and skin color, aiding criminal investigations, though adoption faces challenges due to incomplete genetic understanding and ethical, social, and legal concerns.
May 2023 in “GSC biological and pharmaceutical sciences” According to this study, forensic DNA phenotyping using Next Generation Sequencing can reliably predict certain visible traits like eye, hair, and skin color, though its routine implementation in forensics is hindered by incomplete genetic knowledge and ethical concerns in some countries.
December 2025 in “Egyptian Journal of Basic and Applied Sciences” This study observed that FOXA1 and CCL2 gene expression levels were significantly elevated in women with different PCOS phenotypes compared to healthy controls, indicating phenotype-specific molecular variations which could inform personalized treatment strategies for infertility in PCOS.
April 2015 in “Dentistry 3000” This article explores the causes and associated syndromes of premature hair hypopigmentation, emphasizing a need for better understanding to guide individual patient education and treatment.
11 citations
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September 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a missense mutation in the keratin 71 gene as the cause of autosomal dominant woolly hair/hypotrichosis in a Japanese family, marking the first human mutation in KRT71 linked to a hair disorder.
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.
3 citations
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October 2021 in “The Application of Clinical Genetics” This study found that certain genetic variations in the OPN gene may be linked to atopic dermatitis and a higher prevalence of asthma in Caucasians.
197 citations
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June 2009 in “American journal of human genetics” This study found that previously undescribed WNT10A mutations are a prominent cause of various forms of ectodermal dysplasia, including OODD and Schöpf-Schulz-Passarge syndrome, with gender-specific phenotypic effects noted.
89 citations
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August 2008 in “Human genetics” This study found that the EDAR 1540T/C genetic variant is significantly associated with hair thickness variation in Japanese populations, enhancing previously observed associations in Southeast Asian groups.
47 citations
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January 2013 in “International Journal of Cosmetic Science” This review explores genetic and lifestyle factors influencing hair diversity and reports no new findings, calling attention to the potential for future discoveries in genetic and epigenetic research.
37 citations
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October 2015 in “European Journal of Human Genetics” This study found that a genetic model using SNPs can predict early-onset male-pattern baldness with moderate accuracy, which may assist in decisions about interventions.
37 citations
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August 2019 in “Frontiers in Microbiology” This study found that the S. epidermidis A/C lineage is more pathogenic due to its metabolic and genomic versatility, which allows it to adapt quickly from a commensal to a pathogenic lifestyle.
36 citations
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March 2019 in “European Journal of Human Genetics” This study found genetic variations, including de novo variants and copy number variations, that may be associated with phenotypic discordance in monozygotic twins with various clinical conditions.
19 citations
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April 2015 in “Developmental Dynamics” This study reports that dynamic interactions between stem cells and their niche, influenced by macro-environmental factors, regulate regenerative behavior in integument pattern formation.
19 citations
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April 2014 in “Hormones” Hormones and genetics play key roles in male and female baldness, which can affect mental health and may be linked to other health issues.
14 citations
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April 2019 in “Genes” This study identified a genetic locus associated with coat type in domestic dogs, showing certain variants linked to single-coated breeds and suggesting potential regulatory roles.
11 citations
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July 2001 in “APMIS. Acta pathologica, microbiologica et immunologica Scandinavica./APMIS” This review discusses the role of oestrogens in stimulating linear bone growth and pubertal changes in both boys and girls, highlighting their influence on the growth hormone-insulin-like growth factor axis; it reports no new clinical results.
3 citations
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February 2025 in “Journal of PHYSIOLOGICAL ANTHROPOLOGY” This systematic review and meta-analysis found 30 genetic loci associated with skin ageing phenotypes, noting shared biological pathways in aspects like pigmentation and wrinkling; researchers suggest further studies targeting the same SNP across populations could clarify these associations.
3 citations
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December 2018 in “Meta Gene” This study applied a prediction model based on five SNPs to Russian males with male pattern hair loss, finding a significant association between the AR genomic region and high dihydrotestosterone levels in these patients.
2 citations
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May 2023 in “Veterinary Pathology” This article outlines methods to study the skin and its molecular traits, focusing on interpretation and techniques applicable to mouse models, including diverse assays and approaches like electron microscopy and large-scale lipid analyses.
This study in Gansu alpine fine-wool sheep identified two SNPs in the KRT71 gene that significantly affect wool length, with distinct expression patterns observed in hair follicles, suggesting KRT71 as a candidate gene for enhancing wool production traits.
January 2025 in “Nutrients” In this study, researchers found that specific genetic variations at loci rs1160312, rs6113491, and rs1041668 are independent risk factors for androgenetic alopecia in men, and these risks can be influenced by diet.
January 2017 in “Springer eBooks” This article reviews the classification, pathogenesis, and treatment options for cutaneous lupus erythematosus and reports no new clinical findings.
December 2010 in “Jurnal Natural (Faculty of Mathematics and Natural Science, Syiah Kuala University)” This thesis explores both environmental and genetic factors in prostate cancer, focusing on surrogate hormone markers, medical radiation, family history, and genetic polymorphisms related to DNA repair and hormone marker genes, but reports no new clinical findings.
124 citations
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June 2002 in “Best Practice & Research Clinical Endocrinology & Metabolism” This article reviews polycystic ovary syndrome in adolescents, highlighting its endocrine and metabolic features, and reports no new clinical findings; the etiology may involve early-life abnormalities in androgen production.
98 citations
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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.
51 citations
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November 2011 in “British Journal of Dermatology” This study suggests that the HDAC9 gene is a third susceptibility gene for male-pattern baldness, with significant associations found in both German and Australian samples.
36 citations
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September 2015 in “Forensic Science International: Genetics” This study found that specific DNA variants in the TCHH, WNT10A, and FRAS1 genes are associated with predicting straight hair in Europeans, showing high sensitivity but low specificity, especially using a neural networks approach.
29 citations
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May 2018 in “Clinical Endocrinology” This review discusses the differential diagnosis of low-renin hypertension and highlights recent genetic discoveries related to familial forms, but it presents no new clinical results.