Structural and Dynamic Assessment of Disease‐Causing Mutations for the Carnitine Transporter OCTN2
Sign Up to like & getrecommendations! Published in 2025 at "Molecular Informatics"
DOI: 10.1002/minf.202400002
Abstract: Primary carnitine deficiency (PCD) is a rare autosomal recessive genetic disorder caused by missense mutations in the SLC22A5 gene encoding the organic carnitine transporter novel type 2 (OCTN2). This study investigates the structural consequences of… read more here.
Keywords: carnitine transporter; causing mutations; structural dynamic; disease causing ... See more keywords
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
Analysing the impact of size of NGS panel in defining first line therapeutic strategies in NSCLC.
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Clinical Oncology"
DOI: 10.1200/jco.2025.43.16_suppl.3070
Abstract: 3070 Background: NCCN recommends the analysis of 8 genes (EGFR, ALK, ROS1, BRAF, KRAS, MET, RET, ERBB2, and NTRK1/2/3) for NSCLC patients to identify efficacious target therapies. Concerned with the rising incidence of sub-optimal response… read more here.
Keywords: panel; size; causing mutations; line ... 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
Hotspots for Disease-Causing Mutations in the Mitochondrial TIM23 Import Complex
Sign Up to like & getrecommendations! Published in 2024 at "Genes"
DOI: 10.3390/genes15121534
Abstract: The human mitochondrial proteome comprises approximately 1500 proteins, with only 13 being encoded by mitochondrial DNA. The remainder are encoded by the nuclear genome, translated by cytosolic ribosomes, and subsequently imported into and sorted within… read more here.
Keywords: tim23 complex; hotspots disease; disease causing; import ... See more keywords