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.
5 citations
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January 2015 in “Genetics and Molecular Research” This study found that gene-regulatory interactions among parental alleles contribute significantly to heterosis in early stages of maize development, with many differentially expressed genes showing non-additive expression in hybrids.
April 2025 in “International Journal of General Medicine” This study found that among COVID-19 patients, a higher presence of the G allele in the IFITM3 rs12252 polymorphism correlates with increased inflammatory markers and disease severity, noting higher ESR, CRP, Fibrinogen, LDH, and D-dimer levels in severe cases compared to mild ones.
15 citations
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January 2010 in “Reproduction, Fertility and Development” This study found that Han Chinese women carrying the rs6152A allele had a significantly higher risk of developing polycystic ovary syndrome compared to those with the rs6152GG genotype.
11 citations
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February 2019 in “Research and reports in forensic medical science” This article discusses the use of forensic DNA phenotyping to infer physical characteristics from biological samples without a reference sample, aiding investigations but raising ethical and legal concerns.
1 citations
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October 2013 in “Our Dermatology Online” This study found that individuals in this Egyptian cohort carrying the leucine (L) allele of the 5-α reductase type II enzyme had a higher risk of developing androgenetic alopecia, which may be associated with oxidative stress.
18 citations
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June 2017 in “Proceedings of the National Academy of Sciences of the United States of America” In this mouse study, hair growth defects associated with the Gk5 null allele were partially alleviated by simvastatin treatment, suggesting GK5 plays a key role in skin-specific cholesterol regulation.
12 citations
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September 2012 in “Alcohol and Alcoholism” This study found that a week of daily alcohol exposure during late adolescence led to a long-term increase in alcohol preference in adulthood, highlighting the sensitivity of this age group to alcohol's effects.
6 citations
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April 2014 in “European journal of medicinal chemistry” This study found that several newly synthesized dihydrobenzopyran compounds inhibited insulin secretion and had vasorelaxant activity, with some more potent than reference KATP channel activators, though compound 21 functioned as a Ca2+ entry blocker.
115 citations
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March 2019 in “Nature Communications” This study identified significant genetic associations with frontal fibrosing alopecia at four genomic loci, suggesting it is a genetically predisposed immuno-inflammatory disorder influenced by the HLA-B*07: 02 allele.
86 citations
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December 2001 in “Experimental dermatology” This review classifies mutant mice with hair abnormalities into six categories, providing an annotated table that serves as a reference for understanding the molecular controls of hair growth.
25 citations
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August 2006 in “Human Reproduction” This study found that the GGC repeat length significantly influenced testosterone levels in oral contraceptive users from high-risk breast cancer families, and homozygosity for short alleles may be linked to increased breast cancer risk.
5 citations
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May 2021 in “BMC surgery” This report of a rare case describes cutis verticis gyrate secondary to cerebriform intradermal nevus, emphasizing individualized treatment plans based on patient preference and condition severity.
26 citations
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November 2009 in “Journal of Endocrinological Investigation” This study found no significant difference in the CAG and GGN repeat lengths between infertile and fertile men in Nigeria, but identified a unique GGN allele distribution in the Nigerian population compared to Caucasians.
10 citations
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October 2014 in “Journal of Ovarian Research” This study found a significant association between the IRS-2 gene variant and an increased risk of PCOS, especially in non-obese women in the Chinese population from Taiwan.
4 citations
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February 2023 in “Research Reports in Clinical Cardiology” This study found that the ACE gene DD genotype and D allele are linked to an increased risk of hypertensive IHD complications, with dyslipidemia also identified as a significant risk factor for ischemic heart disease.
39 citations
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June 2017 in “Journal of Applied Research on Medicinal and Aromatic Plants” This review examines around 68 plant sources from six major plant families, assessing their scientific rationale and use by the cosmeceutical industry for applications like anti-ageing and sun protection.
21 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified specific germline and somatic mutations in the Phospholipase C Delta 1 gene as high-risk factors for developing hereditary trichilemmal cysts, involving a monoallelic two-hit mechanism.
This study suggests that specific mutations in the MFN2 gene, including the p.Arg707Trp allele, can result in tissue-selective mitochondrial dysfunction leading to excessive upper body fat growth and low leptin levels.
December 2017 in “British Journal of Dermatology” Targeted therapy for skin cancer is complex due to the role of the hedgehog pathway in both cancer and hair growth.
In this study, researchers found that the keratin-associated protein 36-1 gene (KRTAP36-1) allele C is linked to variations in mean fibre curvature of fine wool in Chinese Tan lambs, suggesting its role in their distinctive curly coat.
November 2009 in “Medical & surgical dermatology” This study found that haploinsufficiency of SPINK5 can lead to Netherton syndrome when a single null mutation combines with homozygous G1258A polymorphisms, suggesting it acts as a genuine mutation affecting LEKTI function.
184 citations
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September 2006 in “PLoS Genetics” This study found that loss of Apc due to K14-cre-mediated gene recombination in mice led to aberrant growth in ectodermally derived squamous epithelia, implicating its critical role in specifying epithelial cell fates during embryonic development.
2 citations
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December 2021 in “International Journal of Andrology” This review of legal cases found that 5α-reductase inhibitors, alleged to cause sexual, mental, and physical side effects, have led to numerous lawsuits with increasing litigation expected in the future.
52 citations
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November 2003 in “Journal of Investigative Dermatology” In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.
24 citations
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November 2015 in “Annals of Nutrition and Metabolism” This study found that specific SHBG gene variants and haplotypes are associated with polycystic ovary syndrome, suggesting that SHBG may be a candidate gene for the condition.
12 citations
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February 2021 in “Translational Psychiatry” This study identified two novel genetic variants associated with Alzheimer's disease in APOE ε4 non-carriers, revealing insights into the disease's underlying regulatory mechanisms.
11 citations
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March 2020 in “American Journal of Medical Genetics Part A” This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.
November 2025 in “Clinical Cosmetic and Investigational Dermatology” LIPH mutations cause woolly hair in some Chinese people.
January 2024 in “Biomarker Insights” This study found significant associations between PCOS susceptibility and specific genetic variants in the APOA5 and PLIN1 genes among Western Saudi women, identifying novel alleles and genotypes that may influence PCOS risk and related clinical characteristics.