49 citations
,
November 2019 in “Egyptian Journal of Medical Human Genetics” This review discusses the role of CYP gene polymorphisms in exacerbating hyperandrogenism in women with PCOS and reports no clinical results; further validation of this hypothesis is needed.
January 2025 in “Pakistan Journal of Health Sciences” This study found a weak association between Cyp11a1 gene variation and polycystic ovary syndrome, with higher di-hydro-testosterone levels observed in individuals with the syndrome and anovulatory PCOS compared to controls.
29 citations
,
February 2018 in “Genetics research international” This review summarizes the influence of gene polymorphisms on genetic predisposition to polycystic ovary syndrome, but reports no new experimental or clinical results.
39 citations
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May 2011 in “Human Immunology” This review discusses findings from genetic studies on acne, highlighting progress in understanding its molecular pathogenesis without reporting new clinical results.
October 2023 in “IntechOpen eBooks” This book chapter reviews the genetic and epigenetic factors influencing PCOS, particularly in a global context and specific to India, and reports no new clinical findings.
70 citations
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April 2014 in “Annales d'endocrinologie” This review discusses the pathways of androgen biosynthesis and reports no new findings, highlighting the need to understand the interplay between the classic and backdoor pathways.
13 citations
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October 2024 in “Scientific Reports” In this study using data from young women in West Bengal, India, the researchers identified that leptin signaling impairment, insulin resistance, and specific gene mutations significantly contribute to PCOS, with obesity commonly manifesting in affected individuals.
June 2024 in “Research Square (Research Square)” This study found that among young women in West Bengal, India, co-occurring PCOS and related conditions like estrogen resistance and leptin receptor insufficiency are common, with notable genetic variations identified, including impairments in leptin signaling and insulin resistance.
44 citations
,
September 2020 in “International Journal of Molecular Sciences” This review discusses the disruption of hormonal and metabolic rhythms in polycystic ovary syndrome and explores potential drug targets to address its molecular causes, without providing new clinical results.
July 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers observed that TCDD exposure in mice enhanced sebaceous gland differentiation and lipid production before causing seboatrophy, providing insights into the cellular events that may contribute to chloracne pathogenesis.
April 2019 in “Journal of Investigative Dermatology” This study found that CYP11A1-derived vitamin D3 analogs inhibit fibroblast proliferation and decrease collagen production through VDR expression, showing potential antifibrotic and antiproliferative activity in human dermal fibroblasts.
November 2023 in “International journal of reproduction, contraception, obstetrics and gynecology” This review discusses the hypotheses surrounding the developmental origins of polycystic ovary syndrome, particularly the role of prenatal androgen exposure, and reports no new experimental results.
December 2024 in “Era s journal of medical research” This source reports that PCOS, a complex endocrinal condition, is characterized by hyperandrogenism, which leads to symptoms like hirsutism, acne, and alopecia; genetic factors and hypothalamic-pituitary-ovarian axis disruption play significant roles in its development, but more research is needed to understand these mechanisms fully.
November 2014 in “Elsevier eBooks” This article reviews the clinical and biochemical features of genetic mutations affecting dihydrotestosterone production and their potential role in male pseudo-hermaphroditism, but presents no new clinical results.
18 citations
,
July 2010 in “Expert Review of Endocrinology & Metabolism” This study identified an association between the FTO gene and susceptibility to PCOS, providing the first genetic evidence linking PCOS to obesity.
This review discusses genetic and epigenetic studies of PCOS, highlighting Genome-Wide Association Studies that found genetic variants related to gonadotrophin secretion influencing PCOS susceptibility, but it reports no new findings.
94 citations
,
July 2020 in “European Journal of Human Genetics” This article provides guidelines for molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, focusing on quality requirements, methodologies, and variant classification; it reports no new clinical results.
1 citations
,
September 2023 in “Acta dermato-venereologica” In this study, researchers found that most patients with frontal fibrosing alopecia lacked the protective rs1800440 polymorphism in the CYP1B1 gene, suggesting its potential role in the development of this condition, while a significant number carried the rs9258883 polymorphism in HLA-B*07:02.
11 citations
,
January 2015 in “Skin pharmacology and physiology” In this study, oral collagen peptides increased certain gene expressions related to epidermis development and the hair cycle in hairless mice skin, suggesting potential links to hair health.
3 citations
,
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.
In this study, human dermal papilla cells exposed to wasabi leaf extract showed changes in cytokine-related gene expression, which the authors suggest could help clarify the biological effects of wasabi.
July 2017 in “Contemporary Endocrinology” This article discusses the ongoing care needs for individuals with 21-hydroxylase deficiency due to mutations in the CYP21A2 gene but does not present new clinical findings.
November 2016 in “Elsevier eBooks” This chapter reviews genetic defects in female sexual differentiation, focusing on 46,XX disorders of sex development and the impact of genetic factors and sex steroids on development, but reports no new clinical findings.
253 citations
,
March 2006 in “The Journal of Clinical Endocrinology and Metabolism” This review discusses the hypothesis that polycystic ovary syndrome may originate in fetal life due to prenatal androgen exposure, but reports no new clinical results.
6 citations
,
May 2020 in “Scientific reports” In this study, microarray and proteomic analyses indicated that genes involved in immune response, receptor binding, and growth factor activity might influence wool fibre diameter in sheep.
29 citations
,
March 2019 in “British Journal of Dermatology” Acne is significantly influenced by genetics, and understanding its genetic basis could lead to better, targeted treatments.
27 citations
,
April 2017 in “British Journal of Dermatology” This study identified overexpression of certain immune-related genes and underexpression of genes in specific signaling pathways in premature androgenetic alopecia, suggesting potential new therapeutic targets.
13 citations
,
July 2018 in “General and comparative endocrinology” This study observed that direct exposure to androgens in Western clawed frogs differentially affects thyroid receptor and deiodinase gene expression in male and female tissues, offering insight into sex-specific metabolic pathway activation.
4 citations
,
September 2016 in “Molecular Medicine Reports” This study identified genes potentially involved in hair and cashmere growth in the Laiwu black goat, highlighting specific gene expression differences between hair-growing and hairless skin.
September 2018 in “Fertility and Sterility” This study observed that inflammatory stimuli significantly altered gene expression in rat theca-interstitial cells, affecting pathways related to growth and androgen production, which are central features of polycystic ovary syndrome.