20 citations
,
May 2007 in “Asian-Australasian Journal of Animal Sciences” This study found that polymorphisms in the KAP8.2 gene in Chinese Inner Mongolia cashmere goats are associated with variations in cashmere fibre diameter, suggesting its potential as a molecular marker for this trait.
15 citations
,
August 2013 in “Gene” This study found that the MTHFR gene C677T mutation appears to be a susceptibility factor for alopecia areata in the Turkish population.
12 citations
,
January 2018 in “Journal of Clinical Laboratory Analysis” This study found that IL-18 rs187238 and rs1946518 single nucleotide polymorphisms were associated with increased susceptibility to alopecia areata in a Turkish population.
8 citations
,
December 2020 in “Scientific reports” This study examined the genetic basis for the curly hair trait in Mangalitza pigs, finding two specific genetic variants that contribute to this distinctive phenotype through autosomal dominant inheritance.
7 citations
,
July 2019 in “Animals” This study identified a new ovine KRTAP21-1 gene variant in sheep, with wool yield affected by the variant, suggesting its potential as a genetic marker for improving wool production.
5 citations
,
November 2022 in “Genetics selection evolution” This study found that low-coverage whole-genome sequencing followed by imputation effectively identifies genetic variants associated with wool traits in Angora rabbits, offering a cost-efficient method for genetic research and breeding.
4 citations
,
January 2020 in “Genes” This study found that genetic variation in the KRTAP21-2 gene among crossbred Merino lambs was associated with differences in wool traits, particularly mean staple length.
2 citations
,
July 2019 in “PLOS ONE” This study found that the CYP3A4 rs4646437 genotype was significantly associated with ALT elevation in Japanese patients undergoing asunaprevir plus daclatasvir therapy for chronic HCV infection, suggesting genotyping may help in monitoring patients safely.
1 citations
,
March 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study examined wool traits in Angora rabbits using low-coverage whole genome sequencing, identifying six QTLs and a gene, FGF10, linked to fiber growth and diameter, suggesting a cost-effective approach for complex trait analysis in genomic breeding.
1 citations
,
May 2011 in “DOAJ (DOAJ: Directory of Open Access Journals)” In this study, researchers detected all three genotypes associated with the MLPH gene's R199H polymorphism in a population of Czech pointer dogs, which is linked to coat color dilution.
August 2024 in “OSMANGAZİ JOURNAL OF MEDICINE” This study reported no significant association between vaspin and visfatin -4689G/T gene polymorphisms and alopecia areata in the Turkish population, although the visfatin GT genotype may pose a risk factor for the condition.
July 2022 in “New Zealand journal of agricultural research” This study found that variation in the ovine KRTAP27-1 gene may influence wool growth, with certain genotypes associated with higher mean staple length and greasy fleece weight in sheep.
August 2026 in “Journal of Genome Biotechnology and Genetics” This review found that while forensic DNA phenotyping and health applications for pigmentation genetics show potential, factors like phenotype definition and population diversity present challenges to accurate genotype-to-appearance predictions.
June 2026 in “Archives of Dermatological Research” In this study, the rs4541843 G > A variant was found to be significantly associated with increased risk and severity of alopecia areata, as well as elevated expression of hsa-miR-182-5p, suggesting their potential as molecular markers for diagnosis and severity assessment.
February 2026 in “Small Ruminant Research” This study found that specific genetic variations in the IRF2BP2 gene influence fleece structure in sheep, with one variant completely determining coat type and another significantly modifying fiber characteristics, providing valuable insights for improving fleece quality through selective breeding.
November 2025 in “Molecular and Cellular Biomedical Sciences” This study found no significant association between the MMP-1 gene polymorphisms rs1799750 and androgenetic alopecia in the sample population.
May 2024 in “LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas)” This study investigated genetic and epigenetic markers for prostate cancer, reporting that certain genotype combinations may influence cancer risk or protection and identifying GSTP1 promoter methylation as a strong prognostic and diagnostic marker linked to tumor aggressiveness.
March 2021 in “Medico-Legal Update” In this study, no significant change in androgen receptor gene expression was found in females with recurrent spontaneous abortion, but a mutant genotype may offer some protection against the condition.
260 citations
,
July 2010 in “Cell” This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.
68 citations
,
August 2009 in “American Journal of Medical Genetics Part A” This study systematically reviewed clinical findings in trichothiodystrophy patients and suggested a new clinico-genetic classification to help better understand the ichthyotic phenotype and its management.
44 citations
,
January 2004 in “American journal of clinical dermatology” This review covers various disorders of cornification and their treatments, offering clinical insights but reporting no new research findings.
39 citations
,
January 2015 in “Annals of dermatology/Annals of Dermatology” This review discusses three newly identified forms of epidermolysis bullosa related to mutations in DST-e, EXPH5, and ITGA3, offering insights into their genetic and clinical characteristics but reports no new clinical results.
35 citations
,
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.
26 citations
,
December 2011 in “Journal of Investigative Dermatology” This review discusses major advances in understanding inherited hair diseases through genetic research and reports no new clinical results; the authors emphasize the potential for new preventive and therapeutic tools.
21 citations
,
December 2013 in “Archives of Dermatological Research” No link found between new male baldness genes and female hair loss.
15 citations
,
January 2019 in “Gynecological Endocrinology” This article discusses the need for a globally standardized protocol for epidemiologic studies of polycystic ovary syndrome to improve study comparability and public health policy.
12 citations
,
December 2021 in “Aging” This study demonstrated that a new non-invasive method for collecting and analyzing mouse hair follicles could replace traditional biopsy methods, providing advantages for translational research and routine applications.
11 citations
,
January 2020 in “BMC pediatrics” This case report identified two new SLC39A4 mutations in twin patients with acrodermatitis enteropathica, suggesting that different mutations in this gene may lead to varying clinical manifestations of the disorder.
11 citations
,
December 2017 in “Orphanet Journal of Rare Diseases” This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.
8 citations
,
May 2022 in “Orphanet Journal of Rare Diseases” This study reported that the Undiagnosed Disease Program at Ghent University Hospital successfully provided definite diagnoses for 18% of referred adults with suspected rare diseases, primarily through genomic technologies.