Results 1 to 10 of about 27,823 (222)
Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay [PDF]
Frontiers in Genetics, 2020 BackgroundFamilial renal glucosuria is a rare renal tubular disorder caused by SLC5A2 gene variants. Most of them are exonic variants and have been classified as missense variants.
Sai Wang +10 more
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A CYP11A1 homozygous exonic variant inducing an alternative splicing, frameshift and truncation in a family with congenital adrenal hyperplasia [PDF]
HeliyonBackground: Congenital adrenal hyperplasia (CAH) is a heterogeneous group of adrenal steroidogenesis disorders with variable degrees of glucocorticoid, mineralocorticoid and sex steroid deficiencies.
Kheloud M. Alhamoudi +4 more
doaj +4 more sources
Molecular Genetics & Genomic Medicine, 2023 Background Gitelman syndrome (GS) is a type of salt‐losing tubular disease, most of which is caused by SLC12A3 gene variants, and missense variants account for the majority.
Xiaomeng Shi +10 more
doaj +2 more sources
Integration of deep intronic and RNA sequencing enhances molecular diagnosis in genetically unsolved Pompe cases [PDF]
Molecular Genetics and Metabolism ReportsWe describe a diagnostic workflow integrating deep intronic and RNA sequencing to resolve genetically unsolved Pompe cases. A five-year-old girl with hypertrophic cardiomyopathy, muscle weakness, recurrent respiratory tract infections, elevated CK levels,
Huseyin Onay +6 more
doaj +2 more sources
Three exonic variants in the PHEX gene cause aberrant splicing in a minigene assay
Frontiers in GeneticsBackground: X-linked hypophosphatemia (XLH, OMIM 307800) is a rare phosphorus metabolism disorder caused by PHEX gene variants. Many variants simply classified as missense or nonsense variants were only analyzed at the DNA level.
Fengjiao Pan +14 more
doaj +3 more sources
PLoS Genetics, 2022 To determine the contribution of defective splicing in Autism Spectrum Disorders (ASD), the most common neurodevelopmental disorder, a high throughput Massively Parallel Splicing Assay (MaPSY) was employed and identified 42 exonic splicing mutants out of
Christy L Rhine +9 more
doaj +3 more sources
Targeted deep resequencing identifies coding variants in the PEAR1 gene that play a role in platelet aggregation. [PDF]
PLoS ONE, 2013 Platelet aggregation is heritable, and genome-wide association studies have detected strong associations with a common intronic variant of the platelet endothelial aggregation receptor1 (PEAR1) gene both in African American and European American ...
Yoonhee Kim +7 more
doaj +1 more source
Exonic WT1 pathogenic variants in 46,XY DSD associated with gonadoblastoma
Endocrine Connections, 2021 Objective: The literature regarding gonadoblastoma risk in exonic Wilms’ tumor suppressor gene (WT1) pathogenic variants is sparse. The aim of this study is to describe the phenotypic and genotypic characteristics of Asian–Indian patients with WT1 ...
Sneha Arya +9 more
doaj +1 more source
Head & Face Medicine, 2021 Introduction The purpose of this study was to systematically identify variants in NOTCH signaling pathway genes that correlate with mandibular prognathism (MP) in the general Chinese population.
Xianzhuo Han +4 more
doaj +1 more source
Non-coding keratin variants associate with liver fibrosis progression in patients with hemochromatosis. [PDF]
PLoS ONE, 2012 Keratins 8 and 18 (K8/K18) are intermediate filament proteins that protect the liver from various forms of injury. Exonic K8/K18 variants associate with adverse outcome in acute liver failure and with liver fibrosis progression in patients with chronic ...
Pavel Strnad +6 more
doaj +1 more source