6 citations
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November 2019 in “The application of clinical genetics” This study identified a significant genetic association between the TNFα gene and alopecia areata susceptibility in the Jordanian Arab population.
1 citations
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August 2025 in “Genes” This study identified genetic variations that could serve as candidate markers for improving body conformation traits in Kazakh fat-tailed coarse-wool sheep through marker-assisted selection.
1 citations
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May 2023 in “Frontiers in Pharmacology” In this study, a case of a young Chinese female with a specific NUDT15 genetic variant experienced severe azathioprine-induced myelosuppression and alopecia while treating systemic lupus erythematosus, highlighting the need for routine blood monitoring during treatment to manage AZA intolerance associated with genetic factors.
March 2026 in “Journal of Personalized Medicine” In this study involving South African breast cancer patients, researchers identified certain genetic variations in cytochrome P450 and other enzymes potentially linked to differences in tamoxifen treatment outcomes, suggesting a need for more comprehensive pharmacogenomic studies to optimize therapy in African populations.
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.
15 citations
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August 2010 in “Fertility and sterility” This study found that girls with polycystic ovary syndrome and longer SHBG and AR gene repeats experienced greater improvements in lipid and androgen levels after one year of metformin treatment.
2 citations
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December 2019 in “Al-ʻulūm al-ṣaydalāniyyaẗ” This study found no evidence that CTLA-4 gene polymorphism (rs733618) plays a role in polycystic ovarian syndrome among the participants.
2 citations
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May 2023 in “Journal of Advanced Research” In this study, researchers identified two genetic mutations associated with producing finer and denser wool in fine-wool sheep, involving the genes KRT74 and EDAR, which may guide future breeding efforts to enhance wool quality.
October 2019 in “Al Mustansiriyah Journal of Pharmaceutical Sciences” This study found that the CTLA-4 gene polymorphism (rs733618) has no association with polycystic ovarian syndrome in the studied population.
In this study, the authors reported that certain SNPs on chromosome 20 were associated with androgenetic alopecia in the ethnic Han population of Yunnan, with specific alleles linked to higher likelihood of developing the condition.
In this study, researchers found that while most genetic variants analyzed were not associated with PCOS in Polish women, the INSR rs1799817 polymorphism may be linked to acne, a symptom of the disorder.
November 2022 in “Scientific Reports” This study found that ESR1 gene polymorphisms may be linked to hormonal imbalances in young women with hyperandrogenism, potentially affecting bone mineral density indirectly.
65 citations
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September 2014 in “Orphanet Journal of Rare Diseases” This study identified mutations in the STUB1 gene linked to hereditary cerebellar ataxia with cognitive impairment, revealing potential effects on protein function and patient symptoms, including accelerated aging.
25 citations
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April 2019 in “Animals” In this study, KRTAP28-1 variants were associated with wool fibre diameter in sheep, suggesting potential as a gene marker for reducing fibre diameter.
5 citations
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December 2022 in “Genes” This review discusses the host genetic factors influencing COVID-19 susceptibility and pathogenesis, highlighting genetic variations that affect viral entry and immune responses, but reports no new experimental results.
2 citations
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November 2024 in “PLoS ONE” This study assessed breeding value estimation methods for Korean Sapsaree dogs, finding varied accuracy across BLUP approaches and identifying significant genomic regions affecting traits like body height and hair length. The researchers suggest these findings can enhance breeding strategies for this culturally significant breed.
1 citations
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January 2025 in “Journal of Fungi” This narrative review and case report identified a rare association between erythema nodosum and kerion caused by *Trichophyton mentagrophytes*, with successful treatment using antifungals and corticosteroids.
1 citations
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August 2024 in “Animals” This study suggests that variations in α-keratin proteins influence the structure and characteristics of wool fibers, indicating that keratin genes could serve as useful markers for identifying different wool traits.
1 citations
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May 2023 in “Frontiers in Endocrinology” This research suggests that autism's genetic links are partially related to factors influencing physiological sex differences, with rare variants interacting with placental sex differences and common variants affecting steroid-related traits.
1 citations
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January 2023 in “Frontiers in genetics” This study identified specific genetic markers related to wool quality in Rambouillet sheep, which may aid breeders in making informed selection and breeding decisions for improved fine wool production.
1 citations
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June 2022 in “Chinese medical journal/Chinese Medical Journal” This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.
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.
January 2026 in “PLoS Biology” This study used developing mouse hair follicles to explore early epithelial bud formation, finding that the Rho GTPase regulator ARHGEF3 plays a crucial role in regulating cell fate and cadherin patterning, with knockouts showing disrupted morphology and increased straight hair follicle growth.
September 2025 in “Cosmetics” This study found that using a pharmacogenetic panel with 26 SNPs can improve treatment outcomes for androgenetic alopecia, as overall response rates to minoxidil, finasteride, and dutasteride were high, and specific genetic markers predicted poor responses to these drugs.
August 2024 in “International Journal of Women’s Dermatology” This study characterizes alopecia in ARCI, highlighting its prevalence among patients with severe forms and revealing new associated trichoscopic features.
January 2024 in “Biomedicines” This review discussed the cutaneous manifestations of APECED, highlighting chronic mucocutaneous candidiasis, alopecia areata, and vitiligo, while emphasizing the importance of early detection and monitoring for accurate diagnosis and patient care in various populations.
3 citations
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June 2017 in “Reproductive biomedicine online” In this study, the SRD5A2 rs523349 polymorphism was significantly associated with an increased risk of miscarriage, particularly during the second trimester.
1 citations
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June 2023 in “Genes” This study highlights the genetic complexities in alopecia areata, emphasizing the role of microRNAs and their association with other immune-related diseases, which could inform targeted treatment strategies.
106 citations
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March 2013 in “Nature Communications” This study found several microRNA-related genetic variants linked to epithelial ovarian cancer risk, with a notable association at the 17q21.31 region, suggesting potential new susceptibility genes.
1 citations
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September 2019 in “Journal of Investigative Dermatology” In this study, researchers used a CRISPR-based method to correct mutations in the COL7A1 gene in stem cells from RDEB patients, restoring normal collagen expression in engineered skin grafts in mice.