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.
April 2025 in “Frontiers in Genetics” This study found that integrating breed-specific BOA and SNP-based models helps reveal the genetic factors involved in thermotolerance traits in beef cattle, enhancing insights into thermoregulation and potentially improving cattle's heat resilience.
9 citations
,
June 2024 in “BMC Genomics” This study identified genetic variations associated with black and white wool color in Gangba sheep, enhancing understanding of wool color genetics and aiding selective breeding for specific wool colors in Tibetan sheep.
234 citations
,
November 2009 in “American journal of human genetics” This study identified genetic variants in the Trichohyalin gene that account for approximately 6% of the variance in hair morphology among Australians of European descent.
103 citations
,
March 2015 in “Nature Communications” This study identified a genetic locus associated with idiopathic scoliosis in females, which might influence spinal gene expression and was previously linked to protection from early-onset alopecia.
98 citations
,
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.
89 citations
,
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.
63 citations
,
November 2012 in “Journal of Cellular Biochemistry” This paper discusses the role of Runx1 in epithelial biology and pathology, highlighting its dual function as a tumor promoter and suppressor in different contexts, and reports no new experimental findings.
58 citations
,
December 2018 in “Nature Communications” This study found that male pattern baldness in European males is strongly heritable and associated with genetic markers linked to earlier puberty, bone density, and pancreatic function.
57 citations
,
November 2017 in “Nature Communications” This genome-wide association study identified 71 genetic loci linked to male pattern baldness, with 30 novel loci, explaining 38% of the risk and suggesting shared pathways with lifespan and cancer traits.
51 citations
,
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.
47 citations
,
August 2014 in “The Journal of Clinical Endocrinology and Metabolism” This study suggests that variations in PCOS phenotypes observed across different ethnic groups may be due to a genetic gradient resulting from historical human migrations and genetic drift.
45 citations
,
July 2009 in “Journal of human genetics” This study found that an SNP in the FGFR2 gene, rs4752566, was significantly associated with hair thickness in Asian populations, suggesting an effect on hair morphology through altered FGFR2 expression levels.
42 citations
,
January 2017 in “Genes” This study observed that genetic variation in the ovine KRTAP22-1 gene is linked to increased wool yield and decreased fiber curvature in sheep, indicating its potential use in breeding programs.
37 citations
,
August 2020 in “BMC Genomics” This study found that while genetic variants contribute minimally to predicting hair greying in a Polish population, age remains the primary predictor, underscoring the complexity of hair greying as a genetic trait.
37 citations
,
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.
36 citations
,
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.
32 citations
,
September 2013 in “Breast cancer research” This study identified a specific SNP in the CACNB4 gene associated with a higher risk of chemotherapy-induced alopecia in breast cancer patients, which may help develop interventions to improve their quality of life.
30 citations
,
March 2019 in “Archives animal breeding/Archiv für Tierzucht” In this study, variation in the KRTAP15-1 gene in goats was linked to changes in cashmere fibre diameter, with specific variants showing dominant or recessive effects.
30 citations
,
June 2016 in “Journal of Human Genetics” This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.
29 citations
,
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.
25 citations
,
April 2017 in “PloS one” In this study, specific SNPs in the FST gene were significantly associated with various wool quality traits in Chinese Merino sheep, suggesting potential markers for breeding programs.
24 citations
,
October 2019 in “Genes” In this study, the identification of a novel KAP gene in sheep, named KRTAP36-1, was associated with increased prickle factor in wool, suggesting its potential as a genetic marker for breeding purposes.
23 citations
,
January 2014 in “International Journal of Biological Sciences” This study found that African American men with prostate cancer have higher rates of somatic and germline androgen receptor mutations than Caucasian American men, which may contribute to ethnic differences in disease progression and outcomes.
22 citations
,
January 2014 in “Journal of Interferon & Cytokine Research” In this study, researchers found that specific IL18 genetic variants may be linked to increased susceptibility to alopecia areata in a Korean population.
20 citations
,
April 2014 in “Autoimmunity” In this study, TLR1 gene polymorphism rs4833095 was significantly associated with increased susceptibility to alopecia areata in the Korean population.
19 citations
,
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
,
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.
18 citations
,
January 2013 in “PLoS ONE” This study identified several significant genetic variants associated with alopecia universalis, including a novel association with HLA-DRB5, which may play a hidden role in the disease.
17 citations
,
August 2018 in “BMC Genomics” The researchers found that HOXC13 regulates different keratin proteins in a mixed manner, with certain SNPs impeding this regulation, while also demonstrating negative-feedback by HOXC13 and positive regulation by LEF1 and melatonin on the HOXC13 promoter.