Genetic analysis of periventricular nodular heterotopia 7 caused by a novel NEDD4L missense mutation: Case and literature summary.
Sign Up to like & getrecommendations! Published in 2023 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.2169
Abstract: BACKGROUND Neurodevelopmental disorders associated with periventricular nodular heterotopia (PVNH) are characterized by phenotypic and genetic heterogeneity. NEDD4L mutation can lead to PVNH7. However, at present, only eight NEDD4L pathogenic variants have been identified across 15… read more here.
Keywords: nodular heterotopia; missense mutation; mutant protein; mutation ... See more keywords
Diffuse midline gliomas with subclonal H3F3A K27M mutation and mosaic H3.3 K27M mutant protein expression
Sign Up to like & getrecommendations! Published in 2017 at "Acta Neuropathologica"
DOI: 10.1007/s00401-017-1780-0
Abstract: mutant protein, and discuss the implications with regard to classification and grading. The first patient is a 30-year-old woman who presented with headaches and symptoms of increased intracranial pressure. Imaging demonstrated a heterogeneously enhancing mass… read more here.
Keywords: k27m mutant; expression; k27m; mutant protein ... See more keywords
Development and validation of an enzyme-linked receptor assay based on mutant protein I188K/S19C/G24C for 40 beta-lactams antibiotics detection in 13 food samples
Sign Up to like & getrecommendations! Published in 2020 at "Microchemical Journal"
DOI: 10.1016/j.microc.2019.104354
Abstract: Abstract Antibiotics play an important role in disease prevention and as a growth promoter in the veterinary field. Animals derived foods holding antibiotic residues above the maximum residue limits can contribute as a hazardous effect… read more here.
Keywords: s19c g24c; beta lactams; beta; protein i188k ... See more keywords
Mosaic Pattern of H3 K27M-Mutant Protein Expression in a Diffuse Midline Glioma—A Diagnostic Dilemma for the Pathologist
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Neurosciences in Rural Practice"
DOI: 10.1055/s-0041-1728231
Abstract: Diffuse midline glioma, H3 K27M-mutant, is a World Health Organization (WHO) grade IV glioma arising in pons, thalamus, and spinal cord. They show mutations resulting in replacement of lysine at position 27 by methionine (K27M)… read more here.
Keywords: glioma; diffuse midline; k27m mutant; k27m ... See more keywords
Analysis of an ADTKD family with a novel frameshift mutation in MUC1 reveals characteristic features of mutant MUC1 protein
Sign Up to like & getrecommendations! Published in 2017 at "Nephrology Dialysis Transplantation"
DOI: 10.1093/ndt/gfx083
Abstract: Background Medullary cystic kidney disease Type 1 is an autosomal dominant tubulointerstitial kidney disease (ADTKD). Recently, mucin 1 (MUC1) was identified as a causal gene of medullary cystic kidney disease (ADTKD-MUC1). However, the MUC1 mutation… read more here.
Keywords: protein; muc1; muc1 protein; mutant muc1 ... See more keywords
AQUA Mutant Protein Quantification of Endomyocardial Biopsy-Sized Samples From a Patient With Hypertrophic Cardiomyopathy
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cardiovascular Medicine"
DOI: 10.3389/fcvm.2022.816330
Abstract: In genetic diseases like hypertrophic cardiomyopathy, reliable quantification of the expression level of mutant protein can play an important role in disease research, diagnosis, treatment and prognosis. For heterozygous β-myosin heavy chain (β-MyHC) mutations it… read more here.
Keywords: hypertrophic cardiomyopathy; patient hypertrophic; endomyocardial biopsy; quantification ... See more keywords
Substrate Protein Interactions and Methylglyoxal Modifications Reduce the Aggregation Propensity of Human Alpha-A-Crystallin G98R Mutant
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Molecular Biosciences"
DOI: 10.3389/fmolb.2022.875205
Abstract: The G98R mutation in αA-crystallin is associated with presenile cataract development in humans. Previous studies have indicated that mutant proteins altered structure, decreased stability, increased oligomeric size, loss of chaperone-like activity, and susceptibility to proteolysis… read more here.
Keywords: crystallin; mutant protein; chaperone; substrate ... See more keywords