Prioritizing de novo autism risk variants with calibrated gene- and variant-scoring models.
Sign Up to like & getrecommendations! Published in 2021 at "Human genetics"
DOI: 10.1007/s00439-021-02356-2
Abstract: Whole-exome and whole-genome sequencing studies in autism spectrum disorder (ASD) have identified hundreds of thousands of exonic variants. Only a handful of them, primarily loss-of-function variants, have been shown to increase the risk for ASD,… read more here.
Keywords: novo autism; risk; gene variant; autism risk ... See more keywords
FOXP3rs3761548 gene variant and interleukin-35 serum levels as biomarkers in patients with multiple sclerosis.
Sign Up to like & getrecommendations! Published in 2020 at "Revue neurologique"
DOI: 10.1016/j.neurol.2020.07.010
Abstract: BACKGROUND Multiple sclerosis (MS) is a chronic autoimmune disease of the central nervous system (CNS). Aberrant expression of transcription factor forkhead box P3 (FoxP3) has been suggested to underlie different immunological disorders as FOXP3 expression… read more here.
Keywords: sclerosis; gene variant; foxp3rs3761548 gene; multiple sclerosis ... See more keywords
Ancestry specific associations of FTO gene variant and metabolic syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Medicine"
DOI: 10.1097/md.0000000000018820
Abstract: Abstract Cross-sectional studies indicate that the fat mass and obesity-associated (FTO) rs9939609 gene variant is associated with metabolic syndrome (MetS) primarily in European ancestry. However, the association is not fully elucidated in African Americans. We… read more here.
Keywords: risk carriers; gene variant; risk; physical activity ... See more keywords
Novel G6B gene variant causes familial autosomal recessive thrombocytopenia and anemia
Sign Up to like & getrecommendations! Published in 2017 at "European Journal of Haematology"
DOI: 10.1111/ejh.12819
Abstract: To characterize the underlying genetic and molecular defects in a consanguineous family with lifelong blood disorder manifested with thrombocytopenia (low platelets count) and anemia. read more here.
Keywords: g6b gene; causes familial; gene variant; familial autosomal ... See more keywords
Complement gene variant effect on relapse of complement-mediated thrombotic microangiopathy after eculizumab cessation
Sign Up to like & getrecommendations! Published in 2022 at "Blood Advances"
DOI: 10.1182/bloodadvances.2021006416
Abstract: Key Points • In CM-TMA, variants in specific genes/regions are associated with high risk of relapse after eculizumab is discontinued.• In CM-TMA, eculizumab discontinuation is appropriate in patients with a low risk of relapse. read more here.
Keywords: effect relapse; complement; relapse; complement gene ... See more keywords
Finnish-specific AKT2 gene variant leads to impaired insulin signalling in myotubes
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Molecular Endocrinology"
DOI: 10.1530/jme-21-0285
Abstract: Finnish-specific gene variant p.P50T/AKT2 (minor allele frequency (MAF) = 1.1%) is associated with insulin resistance and increased predisposition to type 2 diabetes. Here, we have investigated in vitro the impact of the gene variant on glucose metabolism… read more here.
Keywords: finnish specific; insulin stimulated; akt2; gene variant ... See more keywords
Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic Cardiogenetics
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.824510
Abstract: Background: In the molecular genetic diagnostics of Mendelian disorders, solutions are needed for the major challenge of dealing with the large number of variants of uncertain significance (VUSs) identified using next-generation sequencing (NGS). Recently, promising… read more here.
Keywords: variant interpretation; classification; validation new; gene variant ... See more keywords
MPV17 Gene Variant Mutation Presenting as Leucoencephalopathy with Peripheral Neuropathy
Sign Up to like & getrecommendations! Published in 2021 at "Neurology India"
DOI: 10.4103/0028-3886.333468
Abstract: Mitochondrial DNA depletion syndromes (MDS) are rare mitochondrial disorders with evolving broad genotype and phenotype. This is a first case report from India about MPV 17, a mitochondrial inner membrane protein gene variant mutation, presenting… read more here.
Keywords: gene variant; mpv17 gene; mutation presenting; variant mutation ... See more keywords
Novel Association between STAT3 Gene Variant and Vitiligo: A Case-Control Study
Sign Up to like & getrecommendations! Published in 2022 at "Indian Journal of Dermatology"
DOI: 10.4103/ijd.ijd_515_21
Abstract: Background: Vitiligo is an autoimmune disorder involving inflammatory damage to melanocytes. STAT3 genetic variant (rs744166 T > C) increases inflammatory signaling via JAK/STAT pathway. Aim: The purpose of this study was to check whether this… read more here.
Keywords: variant rs744166; gene variant; case control; stat3 gene ... See more keywords
CCR5-Δ32 gene variant frequency in the Nigerian and Zimbabwean populations living in North Cyprus
Sign Up to like & getrecommendations! Published in 2022 at "African Health Sciences"
DOI: 10.4314/ahs.v22i1.44
Abstract: Background The cystine-cystine chemokine receptor 5 (CCR5) is the primary HIV co-receptor involved in the viral entry process into human cells. The 32 bp deletion variant within the CCR5 gene (CCR5-Δ32) plays a very important… read more here.
Keywords: ccr5; frequency; ccr5 gene; gene variant ... See more keywords