Sahelian pastoralism from the perspective of variants associated with lactase persistence.
Sign Up to like & getrecommendations! Published in 2020 at "American journal of physical anthropology"
DOI: 10.1002/ajpa.24116
Abstract: OBJECTIVES Archeological evidence shows that first nomadic pastoralists came to the African Sahel from northeastern Sahara, where milking is reported by ~7.5 ka. A second wave of pastoralists arrived with the expansion of Arabic tribes… read more here.
Keywords: perspective variants; pastoralism perspective; lactase persistence; sahelian pastoralism ... See more keywords
TSLP and TSLP receptors variants are associated with smoking
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.842
Abstract: To search for new prevention markers for early detection of the diseases caused by tobacco, we aimed to investigate the polymorphisms in TSLP and TSLPRs associated with cigarette smoking in the Saudi population. read more here.
Keywords: tslp receptors; receptors variants; tslp tslp; tslp ... See more keywords
Clinical impact of rare variants associated with inherited channelopathies: a 5-year update.
Sign Up to like & getrecommendations! Published in 2021 at "Human genetics"
DOI: 10.1007/s00439-021-02370-4
Abstract: A proper interpretation of the pathogenicity of rare variants is crucial before clinical translation. Ongoing addition of new data may modify previous variant classifications; however, how often a reanalysis is necessary remains undefined. We aimed… read more here.
Keywords: clinical impact; associated inherited; rare variants; inherited channelopathies ... See more keywords
Novel and recurrent genetic variants associated with male and female infertility
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Applied Genetics"
DOI: 10.1007/s13353-024-00935-3
Abstract: Recently, the knowledge of the genetic basis of fertility disorders has expanded enormously, mainly thanks to the use of next-generation sequencing (NGS). However, the genetic cause of infertility, in the majority of patients, is still… read more here.
Keywords: infertility; recurrent genetic; variants associated; associated male ... See more keywords
IFNL4: Notable Variants and Associated Phenotypes.
Sign Up to like & getrecommendations! Published in 2019 at "Gene"
DOI: 10.1016/j.gene.2019.144289
Abstract: Interferon lambda proteins activate the JAK-STAT signalling pathway, resulting in upregulation of genes with antiviral effects. The interferon lambda family was initially thought to be redundant to the interferon alpha family, which signals through the… read more here.
Keywords: associated phenotypes; ifnl4; ifnl4 notable; notable variants ... See more keywords
Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype.
Sign Up to like & getrecommendations! Published in 2019 at "International journal of cardiology"
DOI: 10.1016/j.ijcard.2019.09.048
Abstract: BACKGROUND Pathogenic variants in the filamin C (FLNC) gene are associated with inherited cardiomyopathies including dilated cardiomyopathy with an arrhythmogenic phenotype. We evaluated FLNC variants in arrhythmogenic cardiomyopathy (ACM) and investigated the disease mechanism at… read more here.
Keywords: phenotype; flnc variants; arrhythmogenic cardiomyopathy; filamin variants ... See more keywords
Signatures of TSPAN8 variants associated with human metabolic regulation and diseases
Sign Up to like & getrecommendations! Published in 2021 at "iScience"
DOI: 10.1016/j.isci.2021.102893
Abstract: Summary Here, with the example of common copy number variation (CNV) in the TSPAN8 gene, we present an important piece of work in the field of CNV detection, that is, CNV association with complex human… read more here.
Keywords: human metabolic; associated human; tspan8 variants; signatures tspan8 ... See more keywords
GW29-e1539 Dab2 gene variants are associated with coronary artery disease risk in the Chinese Han population
Sign Up to like & getrecommendations! Published in 2018 at "Journal of the American College of Cardiology"
DOI: 10.1016/j.jacc.2018.08.176
Abstract: Disabled-2 (Dab2) is a clathrin and cargo binding endocytic adaptor protein and cell biology studies revealed that Dab2 plays a role in cellular trafficking of a number of transmembrane receptors and signaling proteins. However, little… read more here.
Keywords: gw29 e1539; gene variants; dab2 gene; variants associated ... See more keywords
Genetic Variants Associated With Rotator Cuff Tearing Utilizing Multiple Population-Based Genetic Resources.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of shoulder and elbow surgery"
DOI: 10.1016/j.jse.2020.06.036
Abstract: BACKGROUND The etiology of rotator cuff tearing is likely multifactorial including a potential genetic predisposition. The purpose of the study was to identify genetic variants associated with rotator cuff tearing utilizing the UK Biobank (UKB)… read more here.
Keywords: cuff tearing; rotator cuff; rotator; associated rotator ... See more keywords
A two-stage inter-rater approach for enrichment testing of variants associated with multiple traits
Sign Up to like & getrecommendations! Published in 2017 at "European Journal of Human Genetics"
DOI: 10.1038/ejhg.2016.171
Abstract: Shared genetic aetiology may explain the co-occurrence of diseases in individuals more often than expected by chance. On identifying associated variants shared between two traits, one objective is to determine whether such overlap may be… read more here.
Keywords: rater; two stage; variants associated; stage inter ... See more keywords
Identification of functional non-coding variants associated with orofacial cleft
Sign Up to like & getrecommendations! Published in 2025 at "Nature Communications"
DOI: 10.1038/s41467-025-61734-w
Abstract: Oral facial cleft (OFC) comprises cleft lip with or without cleft palate (CL/P) or cleft palate only. Genome wide association studies (GWAS) of isolated OFC have identified common single nucleotide polymorphisms (SNPs) in many genomic… read more here.
Keywords: non coding; orofacial cleft; identification functional; variants associated ... See more keywords