Robuta

https://elifesciences.org/reviewed-preprints/95347v3/figures Functional characterization of all CDKN2A missense variants and comparison to in silico models of... https://pmc.ncbi.nlm.nih.gov/articles/PMC11167750/ A DIO2 missense mutation and its impact on fetal response to PRRSV infection - PMC Porcine reproductive and respiratory syndrome virus 2 (PRRSV-2) infection during late gestation substantially lowers fetal viability and survival. In a... https://www.wikidata.org/wiki/Q54269976 Restriction, de-restriction and mistranslation in missense suppression. Ribosomal discrimination of... scientific article published on February 28, 1972 restrictiondemistranslationmissensesuppression https://www.jci.org/articles/view/196712/pdf JCI - A missense mutation in Muc2 promotes gut microbiome and metabolome-dependent... missense mutation https://www.wikidata.org/wiki/Q34062140 Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin... https://www.genome.gov/genetics-glossary/Missense-Mutation?id=127 Missense Mutation A missense mutation is when the change of a single base pair causes the substitution of a different amino acid in the resulting protein. missensemutation https://www.preprints.org/manuscript/202407.0355 A Novel de Novo Missense Mutation in KIF1A Associated with Young-Onset Upper-Limb Amyotrophic... Objectives: To investigate the etiology of amyotrophic lateral sclerosis (ALS) in an adult female patient. Methods: We conducted trio genome sequencing on a... https://pmc.ncbi.nlm.nih.gov/articles/PMC7401704/ Making sense out of missense mutations: Mechanistic dissection of Notch receptors through... Notch signaling is involved in the development of almost all organ systems and required post-developmentally to modulate tissue homeostasis. Rare variants in... making senseout ofmissense mutations https://pmc.ncbi.nlm.nih.gov/articles/PMC9606386/ The recurrent de novo c.2011CT missense variant in MTSS2 causes syndromic intellectual disability... MTSS2, also known as MTSS1L, binds to plasma membranes and modulates their bending. MTSS2 is highly expressed in the central nervous system (CNS) and appears... https://pmc.ncbi.nlm.nih.gov/articles/PMC11023921/ De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with... Selenophosphate synthetase (SEPHS) plays an essential role in selenium metabolism. Two mammalian SEPHS paralogues, SEPHS1 and SEPHS2, share high sequence... https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2024.1258982/full Frontiers | Whole-exome sequencing in familial type 2 diabetes identifies an atypical missense... Genome-wide association studies have identified several hundred loci associated with type 2 diabetes mellitus (T2DM). Additionally, pathogenic variants in se... whole exome sequencingtype 2 diabetes https://elifesciences.org/articles/90749v1 Txnip deletions and missense alleles prolong the survival of cones in a retinitis pigmentosa mouse... Multiple alleles of Txnip, which can interact with several different proteins, including Hsp90AB1, were tested for their ability to prolong the survival of... https://pmc.ncbi.nlm.nih.gov/articles/PMC9606382/ An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the... Au-Kline syndrome (AKS) is a neurodevelopmental disorder associated with multiple malformations and a characteristic facial gestalt. The first individuals... https://mutpred.mutdb.org/ MutPred2: a predictor of impactful missense variants predictorimpactfulmissensevariants https://elifesciences.org/reviewed-preprints/95347v1 Functional characterization of all CDKN2A missense variants and comparison to in silico models of... https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.933785/full Frontiers | Case Report: Identification of a novel CASK missense variant in a Chinese family with... Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) is a rare genetic disorder that results in varying levels of pontocerebel... https://www.jci.org/assets/353162/powerpoint JCI - Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase https://www.rcsb.org/structure/6UO6 RCSB PDB - 6UO6: Crystal Structure of the R422Q missense variant of human PGM1 Crystal Structure of the R422Q missense variant of human PGM1 rcsb pdbcrystal structureof the https://www.questdiagnostics.com/healthcare-professionals/clinical-education-center/publications/2021/cdk19-related-disorder-results-from-both-loss-of-function-and- CDK19-Related Disorder Results From Both Loss-of-Function and Gain-of-Function De Novo Missense... CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants https://pmc.ncbi.nlm.nih.gov/articles/PMC6039248/ Naturally occurring Missense MRGPRX2 variants display Loss of Function Phenotype for Mast Cell... Human mast cells (MCs) express a novel G protein-coupled receptor (GPCR), known as Mas-related G protein coupled receptor X2 (MRGPRX2). Activation of this... loss of function https://www.mdpi.com/2077-0383/10/13/2856 No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants... Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have... no difference https://www.mdpi.com/2073-4425/10/5/386 Identification of a Missense Variant in MFSD12 Involved in Dilution of Phaeomelanin Leading to... White coat color in mammals has been selected several times during the domestication process. Numerous dog breeds are fixed for one form of white coat color... missense variant https://elifesciences.org/reviewed-preprints/95347/figures Functional characterization of all CDKN2A missense variants and comparison to in silico models of... https://www.ebi.ac.uk/training/online/courses/alphafold/classifying-the-effects-of-missense-variants-using-alphamissense/ Classifying the effects of missense variants using AlphaMissense | AlphaFold the effectsclassifyingmissensevariantsusing https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2024.1406819/full Frontiers | SMN1 c.5CG (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis... IntroductionSpinal muscular atrophy (SMA) is caused by homozygous loss of the SMN1 gene with SMN2 gene copy number correlating with disease severity. Rarely ...