December 2023 in “Journal of Thoracic Disease” Increased EGFR gene variations may predict chemotherapy outcomes in small cell lung cancer patients.
2 citations
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December 2024 In this study, the researchers observed that the evolution of Curtobacterium flaccumfaciens pv. flaccumfaciens, which causes tan spot in Australian mungbeans, is driven by clonal expansion from existing genetic variations, emphasizing the need for informed breeding strategies to manage resistance against this pathogen.
September 2025 in “Animals” This study identified novel genetic variations in the KRTAP22-2 gene among eight sheep breeds but found no association between these genotypes and wool fibre traits, indicating possible species-specific differences compared to goats.
August 2026 in “Bogucki Wydawnictwo Naukowe eBooks” This study highlighted that advancements in genome-wide association studies have identified numerous DNA variants linked to human appearance traits, significantly enhancing our understanding of the genetic and epigenetic factors influencing human phenotypes and contributing to genomic tools for anthropology and forensics.
April 2020 in “The Journal of Urology” This study found that big chain pharmacies in Pennsylvania charged significantly higher prices for generic BPH medications compared to independent pharmacies, which had more regional price variation.
3 citations
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February 2022 in “Journal of Dermatological Science” This study identified clinical features and genetic variants associated with early onset female pattern hair loss, highlighting decreased hair shaft density and specific SNPs related to androgenic features.
1 citations
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July 2024 in “JCEM Case Reports” This report highlights a new genetic variant of Woodhouse-Sakati syndrome in two sisters from the first identified family case in Russia, emphasizing the varied manifestations of the disorder and the importance of genetic testing for diagnosis and patient-specific treatment planning.
March 2023 in “Journal of Cosmetic Dermatology” This study in Japanese women identified SNP rs2419385 as significantly associated with hair thinning, suggesting potential involvement of nearby genes in its development.
November 2025 in “BMC Genomics” This study identified genetic differences between Australian White Sheep and Hu Sheep that may explain their distinct pelage types, with a focus on subcutaneous adiposity and immunoregulation. The findings suggest potential targets for breeding climate-resilient sheep, enhancing our understanding of heat tolerance in these breeds.
October 2024 in “Journal of the Endocrine Society” This study examined uncharacterized CYP21A2 gene variants related to non-classic congenital adrenal hyperplasia and found that several mutations reduce enzyme activity, which may help improve diagnostic and treatment strategies.
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 2023 in “British Journal of Dermatology” This study found that WNT10A variants are associated with short anagen hair in children and may overlap genetically with male pattern hair loss.
2 citations
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January 2014 in “Journal of the American Academy of Dermatology” This study found significant hair regrowth in male pattern baldness using 2% and 3% topical minoxidil solutions compared to placebo over a 4-month period.
September 2022 in “Translational Andrology and Urology” This study found that in young men with post-finasteride syndrome, there are potential genetic risk factors associated with psychological and sexual dysfunctions, suggesting genetic screening may be beneficial before prescribing finasteride.
22 citations
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September 2014 in “JAMA dermatology” This study identified major criteria including ectodermal malformations for diagnosing ichthyosis with confetti, and revealed significant genetic variation in the disease locus within the general population.
2 citations
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August 2023 in “The Journal of Animal and Plant Sciences” This study identified 1277 genomic regions selected for traits in indigenous Chinese goats, including cashmere fiber, reproduction, size, and high-altitude adaptation, revealing key candidate genes for these phenotypes through whole-genome resequencing.
13 citations
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June 2024 in “Frontiers in Genetics” This review examined genetic factors in 46, XY differences/disorders of sex development and found that whole-exome sequencing is more effective than panel sequencing for molecular diagnosis. It identified regional genetic variation and emphasized next-generation sequencing's role in detecting variants related to gonadal and androgen-related genes.
September 1997 in “Clinical and Experimental Dermatology”
133 citations
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February 2017 in “PLoS Genetics” In this study, researchers used genetic data from over 52,000 men to identify over 250 genetic loci associated with severe hair loss and developed a predictive algorithm for determining hair loss risk.
47 citations
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April 2021 in “BMC Medical Genomics” This systematic review and meta-analysis reported potential risk variants for acne in genes related to inflammation and sebaceous gland function, including TNF, CYP17A1, and FST, across diverse populations.
40 citations
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January 2017 in “Intestinal Research” This study found that among Japanese IBD patients, the NUDT15 p.Arg139Cys variant was significantly associated with thiopurine-induced leukopenia and severe hair loss, suggesting its genotyping is important for predicting these adverse events.
29 citations
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November 2022 in “Nature Medicine” This study identified thousands of variant-metabolite associations in the human plasma metabolome, offering insights into the genetic bases of metabolism and potential adverse drug effects.
27 citations
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June 2020 in “Genes” This study identified multiple loss of function variants in the HR gene linked to the unique hair coat phenotype in lykoi cats, also known as werewolf cats.
23 citations
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December 2013 in “Journal of Investigative Dermatology Symposium Proceedings” This study highlights rapid advances in alopecia areata treatment following the identification of genetic variants associated with increased disease risk, suggesting potential for precision medicine approaches.
20 citations
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March 2021 in “Cancers” This study found that rare germline pathogenic variants in BRCA2, BRCA1, and ATM are associated with increased risk of aggressive prostate cancer.
15 citations
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December 2017 in “Journal of Investigative Dermatology” This study identified two genome-wide significant genetic associations with seborrheic dermatitis, suggesting a potential genetic susceptibility contributing to the disease's pathogenesis.
9 citations
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June 2020 in “Animal genetics” In this study, researchers identified genetic variants in the PCCA and PRLR genes that are significantly associated with hair coat length in Brangus heifers, potentially contributing to more thermotolerant cattle.
9 citations
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September 2014 in “Cancer Epidemiology, Biomarkers & Prevention” This study found that men without prostate cancer carrying the A-allele of SNP rs1204038 had a 65% higher risk of PSA levels above 3 ng/mL compared to those with the G-allele, increasing referrals for further examination.
8 citations
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October 2019 in “Immunological investigations” This study suggests that the rs2075876 variant in the AIRE gene may significantly increase susceptibility to alopecia areata in the examined male population.
5 citations
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August 2016 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers identified over 250 new genetic loci linked to severe male pattern baldness, and developed a prediction algorithm that could accurately differentiate between those with severe and no hair loss.