2 citations
,
April 2025 in “Frontiers in Genetics” This study investigated the genetic basis of coat color variation in cattle using skin transcriptome and whole-genome analyses, identifying the ASIP gene as a significant determinant that is differentially expressed and under strong positive selection in black and brown cattle breeds.
January 2024 in “International Journal of Biochemistry and Molecular Biology” This study found that Iraqi women with PCOS who carry the reference wild type alleles of OCT1 had a significant hormonal and metabolic response to metformin, unlike those with mutant alleles.
This study identified the FGF5:c.578C>T variant as linked to long hair in Akitas in Japan and suggests that genetic testing could help improve their breeding practices and welfare.
June 2021 in “EBioMedicine” This paper reports no new results; it addresses the effects of Dutasteride on testosterone and DHT in men, and discusses the implications for androgen deprivation and COVID-19 outcomes.
This reference list, part of a book by Alex Gough, Alison Thomas, and Dan O'Neill, compiles citations from veterinary journals on various canine and feline health issues, but reports no new research findings.
134 citations
,
February 2005 in “Neuropsychopharmacology” GABRA2 gene variations impact alcohol response, and hair loss medication finasteride reduces some effects.
6 citations
,
March 2009 in “Journal of the European Academy of Dermatology and Venereology” This study found no increased frequency of the TNF2 allele in Mexican patients with adverse cutaneous drug reactions mediated by delayed hypersensitivity, suggesting its lower relevance compared to findings in Caucasian populations.
August 2022 in “Frontiers in genetics” This study identified a novel bi-allelic missense variant in the DSC3 gene linked to severe Hypotrichosis with Recurrent Skin Vesicles in a Saudi child, supporting its role in the condition.
55 citations
,
November 2018 in “American journal of human genetics” This study identified five mutations in the gene LSS in individuals with unexplained hypotrichosis simplex, highlighting a potential role of mislocalized LSS proteins in disrupting hair follicle biology.
February 2017 in “Cancer Causes & Control” In this study, Swedish men carrying the AR haplotype H2 were found to have a significantly lower risk of prostate cancer compared to those with the more common H1 variant.
35 citations
,
August 2010 in “The American journal of pathology” This study reports that hypomorphic alleles of the Ass1 gene in mice resemble human CTLN1, providing a potential model for preclinical studies and indicating that standard treatments for CTLN1 can rescue phenotypes.
6 citations
,
September 2015 in “Journal of Investigative Dermatology” This study demonstrated that RNA interference targeting mutant keratin genes can effectively correct hair shaft structural defects in a mouse model by reducing mutant gene expression.
3 citations
,
April 2015 in “AFRICAN JOURNAL OF BIOTECHNOLOGY” This study found that certain Y-chromosome alleles may influence susceptibility to prostate cancer among Iraqi males, suggesting potential genetic screening markers for the disease.
August 2015 in “International Journal of Genetics and Molecular Biology” This study found that specific Y-chromosome alleles may influence susceptibility to prostate cancer in Iraqi males, suggesting their potential use in screening for the disease.
27 citations
,
April 2018 in “Scientific Reports” This study found that in psoriasis patients, the K17 protein probably functions as an autoantigen, with the HLA-Cw*06:02 risk genotype strongly linked to the T cell response size.
47 citations
,
December 2019 in “Frontiers in immunology” This study identified a novel G207E STING mutation associated with severe inflammatory symptoms and suggested that common polymorphisms in TMEM173 and IFIH1 may modify the phenotype in affected individuals.
1 citations
,
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.
21 citations
,
April 2014 in “PLoS ONE” In this study, researchers identified a novel KRT74 gene mutation associated with autosomal recessive pure hair and nail ectodermal dysplasia in a Pakistani family, expanding the known genetic causes of the disorder.
2 citations
,
May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences” This review discusses genetic mutations associated with Hutchinson-Gilford progeria syndrome and reports no clinical results; the authors emphasize the importance of cardiovascular monitoring in management.
1 citations
,
January 2022 in “Research Square (Research Square)” This study found that CRISPR/Cas9 efficiently edited two cellulose synthase-like genes in spinach, significantly altering root hair growth patterns and suggesting potential for large-scale genome editing in this crop.
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.
29 citations
,
January 2010 in “Methods in Enzymology” This review discusses five genetic fate mapping methods used to study cell behaviors during development and regeneration, detailing the necessary tools and considerations without reporting new experimental results.
2 citations
,
June 2021 in “Research Square (Research Square)” This study identified a novel missense mutation in the FGF5 gene associated with the longhair phenotype in about 3% of Maine Coon cats, suggesting it may be a breed-specific variant.
11 citations
,
October 2002 in “Genetics” This study mapped a spontaneous mouse hair mutation, "hague," to keratin genes on chromosome 15 but found no gene mutations in hague mice.
1 citations
,
January 2020 in “Benha Journal of Applied Sciences” This study found that DEFB1 polymorphisms, specifically the rs1800972 CG and GG genotypes, may predict susceptibility to and severity of alopecia areata.
48 citations
,
May 2015 in “PLOS ONE” This study found that a genetic test using 5 to 20 SNPs can predict male pattern baldness with variable accuracy in European men, especially those aged 50 and older.
41 citations
,
October 2011 in “Clinical and Experimental Dermatology” This meta-analysis suggests that the G allele of AR StuI polymorphism might be a potential risk factor for AGA, particularly in white populations.
28 citations
,
August 2014 in “Journal of Assisted Reproduction and Genetics” This study found that the VEGF +405G/C polymorphism may be an inheritable risk factor for polycystic ovary syndrome in south Indian women.
1 citations
,
February 2025 in “Journal of Dairy Science” In this study, researchers found that the SLICK1 allele in cattle may alter local immune regulation, hair growth, and tissue remodeling, as indicated by differential gene expression pathways associated with immune and inflammatory responses in slick vs. nonslick Holsteins.
January 2015 in “Indian Journal of Medical Biochemistry” Men with early balding should be checked for metabolic syndrome, as there's a link between the two.