Results 11 to 20 of about 27,823 (222)
Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4 [PDF]
Nature Communications, 2021 Genetic studies of eczema to date have mostly explored common genetic variation. Here, the authors perform a large meta-analysis for common and rare variants and discover 8 loci associated with eczema.
Sarah Grosche +62 more
doaj +15 more sources
Exon identity influences splicing induced by exonic variants and in silico prediction efficacy [PDF]
Journal of Cystic Fibrosis, 2021 Minigenes and in silico prediction tools are commonly used to assess the impact on splicing of CFTR variants. Exon skipping is often neglected though it could impact the efficacy of targeted therapies. The aim of the study was to identify exon skipping associated with CFTR variants and to evaluate in silico predictions of seven freely available ...
Martin, Natacha +12 more
openaire +2 more sources
Exonic variants undergoing allele-specific selection in cancers [PDF]
BMC Medical Genomics, 2021 Abstract Background Allelic imbalance (AI) in tumors is caused by chromosomal and sub-chromosomal gains and losses. Results We evaluated AI at 109,086 germline exonic SNP loci in four cancer types, and identified a set of SNPs that demonstrate strong tumor allele specificity
Qiyuan Li +9 more
openaire +3 more sources
A Novel EML4-ALK Variant: Exon 6 of EML4 Fused to Exon 19 of ALK [PDF]
Journal of Thoracic Oncology, 2012 Cytotoxic chemotherapy remains the mainstay of treatment for most patients with advanced disease. Recently, anaplastic lymphoma kinase (ALK) expression as a major target for successful treatment with ALK inhibitors was detected in a subset of non-small-cell lung carcinomas, usually as a result of echinoderm microtubule-associated protein-like 4 (EML4 ...
Penzel, Roland +2 more
openaire +2 more sources
Frontiers in Endocrinology, 2022 BackgroundCongenital iodide transport defect (ITD) is an uncommon cause of dyshormonogenic congenital hypothyroidism characterized by the absence of active iodide accumulation in the thyroid gland. ITD is an autosomal recessive disorder caused by loss-of-
Romina Celeste Geysels +19 more
doaj +1 more source
False negatives in GBA1 sequencing due to polymerase dependent allelic imbalance
Scientific Reports, 2021 A variant in the GBA1 gene is one of the most common genetic risk factors to develop Parkinson’s disease (PD). Here the serendipitous finding is reported of a polymerase dependent allelic imbalance when using next generation sequencing, potentially ...
Jonas M. den Heijer +6 more
doaj +1 more source
Rare Nonsynonymous Exonic Variants in Addiction and Behavioral Disinhibition [PDF]
Biological Psychiatry, 2014 Substance use is heritable, but few common genetic variants have been associated with these behaviors. Rare nonsynonymous exonic variants can now be efficiently genotyped, allowing exome-wide association tests. We identified and tested 111,592 nonsynonymous exonic variants for association with behavioral disinhibition and the use/misuse of nicotine ...
Scott I, Vrieze +7 more
openaire +2 more sources
Investigating the role of FUS exonic variants in Essential Tremor [PDF]
Parkinsonism & Related Disorders, 2013 Essential Tremor is the most common form of movement disorder. Aggregation in families suggests a strong genetic component to disease. Linkage and association studies have identified several risk loci but the specific causal variants are still unknown.
Catherine, Labbé +8 more
openaire +2 more sources
Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction. [PDF]
PLoS ONE, 2012 Screening for pathogenic mutations in breast and ovarian cancer genes such as BRCA1/2, CHEK2 and RAD51C is common practice for individuals from high-risk families.
Barbara Wappenschmidt +11 more
doaj +1 more source
Genetic associations of nonsynonymous exonic variants with psychophysiological endophenotypes [PDF]
Psychophysiology, 2014 AbstractWe mapped ∼85,000 rare nonsynonymous exonic single nucleotide polymorphisms (SNPs) to 17 psychophysiological endophenotypes in 4,905 individuals, including antisaccade eye movements, resting EEG, P300 amplitude, electrodermal activity, affect‐modulated startle eye blink.
Vrieze, Scott I. +8 more
openaire +3 more sources