December 2016 in “Int J Genet” This review discusses the genetic factors and single nucleotide polymorphisms related to androgenic alopecia, emphasizing androgen receptors, but reports no new clinical results.
12 citations
,
July 2015 in “Tissue Antigens” In this study, the AA genotype of C2 polymorphism was more frequently observed in Chinese patients with systemic lupus erythematosus than controls, indicating it may be a risk factor for the disease.
July 2022 in “The Egyptian Journal of Hospital Medicine” This study found no significant association between the IL-15 genetic polymorphism (rs17015014) and the risk or severity of Alopecia Areata in the examined population.
October 2017 in “The Indian Journal of Animal Sciences” This study found that prolactin gene polymorphism in Changthangi goats showed no significant association with Cashmere quality traits, indicating the need for further research with larger sample sizes.
13 citations
,
July 2024 in “BMC Genomics” In this study, researchers found that single SNPs have a small genetic effect on phenotypes in Inner Mongolia cashmere goats, and constructing haplotypes from associated SNPs may uncover complex variations in cashmere traits, aiding genomics and breeding efforts.
4 citations
,
March 2024 in “Forensic Sciences Research” This review found that current forensic DNA phenotyping panels for biogeographical ancestry and visible traits face significant limitations due to inconsistencies in terminology, genetic understanding, and genotyping technologies, highlighting the need for harmonization and further research.
2 citations
,
March 2023 in “Research Square (Research Square)” This review discusses existing forensic DNA phenotyping panels for biogeographical ancestry and externally visible characteristics and highlights major technical limitations, including terminology issues, genetic knowledge gaps, and technological debates; it reports no new results.
717 citations
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June 2010 in “Nature” This study identified key genetic regions associated with alopecia areata, highlighting both acquired and innate immune involvement, with a novel link to the upregulation of ULBP ligands in autoimmune disease.
383 citations
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February 2011 in “Nature Reviews Genetics” This review discusses advances in forensic DNA profiling, highlighting new genetic markers and methods for identifying unknown individuals, but reports no new research findings.
106 citations
,
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.
8 citations
,
May 2025 in “Biomolecules” This review highlights the evolution of forensic genetics from basic DNA analysis to complex genome-wide studies, enabling insights into personal traits, ancestry, and habits, and suggests future advancements through technologies like CRISPR and AI.
5 citations
,
March 2022 in “Clinical Cosmetic and Investigational Dermatology” This study proposed a model that accurately predicts skin condition using genotype information and machine learning, suggesting potential for creating customized cosmetics.
3 citations
,
August 2022 in “Archives animal breeding/Archiv für Tierzucht” This study found that specific genetic variants of the KAP22-1 gene in Egyptian sheep breeds were significantly associated with wool traits like crimp, staple length, kemp score, and greasy color grade, suggesting their potential use in breeding programs.
November 2020 in “Journal of The American Academy of Dermatology” This study reported that using plain bottles instead of commercial kits for extracting platelet-rich plasma may be an effective method for treating hair loss.
8 citations
,
December 2017 in “Small Ruminant Research” This study reports that variation in the ovine TCHH gene may influence wool fibre curvature, with specific gene variants affecting the mean fibre curvature in sheep.
25 citations
,
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.
10 citations
,
September 2022 in “Animals” This research identified 18 significant SNPs and several candidate genes associated with udder conformation traits in Holstein cattle, providing insights into their genetic architecture.
October 2024 in “Frontiers in Pharmacology” This study found that in patients with genetic generalized epilepsies, certain gene variants were linked to differences in valproic acid treatment outcomes, including a higher likelihood of treatment failure, varying serum drug concentrations, and specific side effects like weight gain and hair loss.
September 2020 in “Research Square (Research Square)” This study identified 21 candidate genes related to immunoglobulin concentrations in colostrum and serum of dairy cattle, which may aid in genetic improvement for disease resistance.
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.
36 citations
,
March 2019 in “European Journal of Human Genetics” This study found genetic variations, including de novo variants and copy number variations, that may be associated with phenotypic discordance in monozygotic twins with various clinical conditions.
27 citations
,
June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified numerous size polymorphisms in the human ultrahigh sulfur KAP4 genes due to intragenic sequence variations, suggesting these polymorphisms may have arisen through deletions and duplications during evolution.
9 citations
,
March 2020 in “Gene” In this study, certain genetic variations in the ESR1 and ESR2 genes were strongly associated with polycystic ovary syndrome and related metabolic issues in Tunisian women.
14 citations
,
September 2019 in “Forensic Science International Genetics” This study found that hair shaft keratin proteins can be reliably identified from samples as small as 0.12 cm, suggesting their potential forensic utility with typical casework sample sizes.
21 citations
,
January 2021 in “Frontiers in Pharmacology” This review examines the role of thiopurines in managing inflammatory bowel diseases like ulcerative colitis and Crohn's disease, and reports no new clinical results, emphasizing the need for more studies on thiopurine withdrawal scenarios.
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.
9 citations
,
September 2013 in “Journal of Applied Animal Research” This study identified eight alleles of the caprine KAP13-3 gene in cashmere goats, which could influence gene expression and cashmere fiber characteristics.
1 citations
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August 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study reports that a novel gain-of-function mutation in TMEM173, combined with polymorphisms in TMEM173 and IFIH1, results in a distinct clinical phenotype with features of SAVI, including alopecia and photosensitivity.
1 citations
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April 2025 in “Animals” In this study, nucleotide sequence variation in the KRTAP13-3 gene was associated with changes in heterotypic hair fibre diameter variation in Chinese Tan sheep.
14 citations
,
July 2001 in “American Journal of Human Genetics” Haplogroup X found in Altaian population supports Amerindian origin.