1 citations
,
July 2025 in “Genetics Selection Evolution” In this study, using scRNA-seq, researchers detailed the gene expression and cell differentiation processes in goat fetal horn buds, identifying crucial roles for dermal and epithelial cells in horn initiation and highlighting potential genetic factors involved in horn morphogenesis.
14 citations
,
September 2017 in “Hereditas” This study found that differentially expressed genes in horses with white versus black coats may regulate coat color, providing insights into the genetics of skin melanin synthesis.
1 citations
,
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.
134 citations
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February 2005 in “Neuropsychopharmacology” GABRA2 gene variations impact alcohol response, and hair loss medication finasteride reduces some effects.
6 citations
,
March 2020 in “Anais Brasileiros de Dermatologia” This study found that the genetic variants rs231775 and rs3087243 of the CTLA4 gene are not associated with alopecia areata in the Mexican population analyzed.
5 citations
,
September 2016 in “Security science and technology” DNA can predict physical traits like eye and hair color accurately, especially in Europeans, but predicting other traits and in diverse populations needs more research.
99 citations
,
July 2012 in “PLoS Genetics” This study identified a 69 bp deletion in the KRT75 gene as the cause of the frizzle feather trait in chickens, affecting feather curling.
42 citations
,
April 2009 in “Human Genetics” This study suggests that the AGA risk haplotype in Europeans was driven to high frequency by positive selection, likely associated with a variant in the EDA2R gene.
35 citations
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August 2006 in “Molecular genetics and metabolism” This study found significant variation in tissue mutant load in individuals with the T8993G mutation, which complicates genetic counseling and may inform genotype-phenotype correlations, especially using hair bulb mtDNA analysis.
14 citations
,
July 2001 in “American Journal of Human Genetics” Haplogroup X found in Altaian population supports Amerindian origin.
1 citations
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November 2025 in “Science Advances” This research identified two genetic variants that influence the white-spotted coat patterns in Holstein-Friesian cattle, involving regulatory changes in the MITF and KIT genes, confirmed through mouse models, along with possible effects on coat patterns in other cattle breeds.
143 citations
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January 2007 in “The American Journal of Human Genetics” This study identified four genetic loci on chromosomes 6, 10, 16, and 18 that may contribute to susceptibility for alopecia areata and suggested shared genetic factors with psoriasis.
115 citations
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October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” In this study, researchers identified novel LMNA mutations in patients with atypical progeroid syndrome, revealing clinical features distinct from other similar disorders, but unrelated to mutant prelamin A accumulation.
86 citations
,
November 2015 in “Journal of Gastroenterology” This study reported that the NUDT15 R139C genetic variant was significantly associated with thiopurine-induced leukocytopenia in Japanese inflammatory bowel disease patients, independent of 6-thioguanine nucleotide levels.
56 citations
,
September 2010 in “Veterinary pathology” This study found that certain C57BL/6 mouse substrains have a genetic vulnerability to skin lesions resembling central centrifugal cicatrical alopecia in humans, potentially worsened by high vitamin A levels.
55 citations
,
November 2010 in “Journal of Allergy and Clinical Immunology” This study found that the TLR3 L412F genetic variant is associated with severe viral infections, especially CMV, and immune dysfunction in a subgroup of chronic mucocutaneous candidiasis patients.
46 citations
,
August 2020 in “International Journal of Genomics” This review examines over 271 candidate genes associated with economic traits in goats, highlighting their potential use in genetic markers and future breeding programs, and reports no new experimental results.
19 citations
,
June 2020 in “BMC Cancer” This study reported that genetic changes in trichilemmal carcinoma resemble those in other skin cancers, with TP53 mutations associated with aggressive clinical outcomes.
11 citations
,
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.
10 citations
,
August 2023 in “Animals” In this study, researchers examined chicken feather follicle tissues from differently colored chickens and found that the genes SLC45A2 and GPNMB are involved in promoting melanin deposition, which enriches understanding of the genetic mechanisms affecting feather color.
10 citations
,
March 2021 in “Clinical Cosmetic and Investigational Dermatology” This study found that specific genetic variants in the CYP21A2 and CYP19A1 genes were associated with severe acne vulgaris among Han Chinese, particularly in male patients.
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.
9 citations
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July 2016 in “Genes” This study identified specific genetic variants as the cause of visual impairment and non-syndromic alopecia in two brothers, reinforcing the link between PDE6H variants and achromatopsia and LPAR6 variants and alopecia.
6 citations
,
August 2024 in “BMC Ophthalmology” This study identified multiple genetic variants in Pakistani families with oculocutaneous albinism, including two novel variants, enhancing understanding of its genetic basis and aiding better management and counseling.
5 citations
,
May 2011 in “European Journal of Medical Genetics” This case report describes a 44-year-old patient with late-onset partial lipodystrophy, mental retardation, epilepsy, ichthyosis, and glomerulonephritis, linked to a 10 Mb duplication of chromosome region 5q31.3-5q32.1.
4 citations
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June 2024 in “Animals” This review examines the genetic factors influencing coat color in horses and donkeys, highlighting key genes like MC1R, TYR, MITF, ASIP, and KIT, and discusses implications for selective breeding and the relationship between coat color and specific equine diseases.
2 citations
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August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses the genetic origins of autosomal recessive woolly hair with hypotrichosis and reports no clinical results; it highlights the link to homozygous variants in the K25 keratin gene.
1 citations
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October 2023 in “Animals” This study explored the genetic basis of fiber diameter in alpacas, identifying candidate genomic regions including four significant areas on VPA6, VPA9, VPA29, and an unassigned scaffold, using whole genome association analysis and a custom SNP microarray.
1 citations
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January 2020 in “Journal of Translational Genetics and Genomics” This study identified 47 genetic variants with a higher frequency in centenarians compared to young controls in the Bulgarian population, suggesting potential associations with longevity.
This study analyzed the genetic variations of the KAP20-1 gene in Chinese Tan sheep lambs and found that the G variant was linked to an increased mean fibre curvature in their fine wool fibres, potentially influencing breeding strategies for this wool trait.