Identifying disease-causing mutations in genomes of single patients by computational approaches
Sign Up to like & getrecommendations! Published in 2020 at "Human Genetics"
DOI: 10.1007/s00439-020-02179-7
Abstract: Over the last decade next generation sequencing (NGS) has been extensively used to identify new pathogenic mutations and genes causing rare genetic diseases. The efficient analyses of NGS data is not trivial and requires a… read more here.
Keywords: disease causing; causing mutations; genomes single; mutations genomes ... See more keywords
A profound computational study to prioritize the disease-causing mutations in PRPS1 gene
Sign Up to like & getrecommendations! Published in 2017 at "Metabolic Brain Disease"
DOI: 10.1007/s11011-017-0121-2
Abstract: Charcot-Marie-Tooth disease (CMT) is one of the most commonly inherited congenital neurological disorders, affecting approximately 1 in 2500 in the US. About 80 genes were found to be in association with CMT. The phosphoribosyl pyrophosphate… read more here.
Keywords: disease causing; causing mutations; study; disease ... See more keywords
Discovery of autism/intellectual disability somatic mutations in Alzheimer's brains: mutated ADNP cytoskeletal impairments and repair as a case study
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Psychiatry"
DOI: 10.1038/s41380-019-0563-5
Abstract: With Alzheimer’s disease (AD) exhibiting reduced ability of neural stem cell renewal, we hypothesized that de novo mutations controlling embryonic development, in the form of brain somatic mutations instigate the disease. A leading gene presenting… read more here.
Keywords: causing mutations; autism; autism intellectual; mutated adnp ... See more keywords
On variants and disease-causing mutations: Case studies of a SEMA4A variant identified in inherited blindness
Sign Up to like & getrecommendations! Published in 2018 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2017.1354384
Abstract: ABSTRACT The p.R713Q variant of the semaphorin‐4a‐encoding gene, SEMA4a, has been reported to cause autosomal dominant retinitis pigmentosa. Here we show three families with retinal degeneration in which unaffected family members are either homozygous or… read more here.
Keywords: disease causing; causing mutations; variants disease; case studies ... See more keywords
Computational approaches for investigating disease-causing mutations in membrane proteins: database development, analysis and prediction.
Sign Up to like & getrecommendations! Published in 2022 at "Current topics in medicinal chemistry"
DOI: 10.2174/1568026622666220726124705
Abstract: Membrane proteins (MPs) play an essential role in a broad range of cellular functions, serving as transporters, enzymes, receptors, and communicators, and about ~60% of membrane proteins are primarily used as drug targets. These proteins… read more here.
Keywords: causing mutations; membrane proteins; disease causing; mutations membrane ... See more keywords