Contact DMCA Privacy

Robuta

https://elifesciences.org/articles/90749/peer-reviews
Peer review in Txnip deletions and missense alleles prolong the survival of cones in a retinitis...
Multiple alleles of Txnip, which can interact with several different proteins, including Hsp90AB1, were tested for their ability to prolong the survival of...
peer reviewtxnipdeletionsmissensealleles
https://pubmed.ncbi.nlm.nih.gov/39110250/
Assessing predictions on fitness effects of missense variants in HMBS in CAGI6
This paper presents an evaluation of predictions submitted for the "HMBS" challenge, a component of the sixth round of the Critical Assessment of Genome...
predictionsfitnesseffectsmissensevariants
https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.896192/full
Frontiers | Case report: A novel missense variant in melanopsin associates with delayed sleep...
Melanopsin (OPN4) is a blue light-sensitive opsin-type G-protein coupled receptor. It is highly expressed in photosensitive retinal ganglion cells which medi...
case reportmissense variantfrontiersnovelmelanopsin
https://pubmed.ncbi.nlm.nih.gov/29580235/
Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants...
We show that due to low specificities state-of-the-art in silico prediction tools are not suitable to predict pathogenicity of variants of uncertain...
in silicoperformancepredictiontoolsclassification
https://pubmed.ncbi.nlm.nih.gov/36413997/
Calibration of computational tools for missense variant pathogenicity classification and ClinGen...
Recommendations from the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) for interpreting sequence...
missense variantcalibrationcomputationaltoolspathogenicity
https://pubmed.ncbi.nlm.nih.gov/24302611/
The ZZ domain of dystrophin in DMD: making sense of missense mutations
Duchenne muscular dystrophy (DMD) is associated with the loss of dystrophin, which plays an important role in myofiber integrity via interactions with...
zzdomaindystrophindmdmaking
https://pubmed.ncbi.nlm.nih.gov/24880466/
Novel and highly lethal NKX2.5 missense mutation in a family with sudden death and ventricular...
To date, several disease-related mutations in NKX2-5, a cardiac-specific homeobox gene, have been documented in patients with a variety of congenital heart...
missense mutationnovelhighlylethal
https://pubmed.ncbi.nlm.nih.gov/25694107/
A case of autism spectrum disorder arising from a de novo missense mutation in POGZ
Autism spectrum disorder (ASD) is a clinically heterogeneous psychiatric disorder with various genetic backgrounds. Here, we report a novel mutation in the...
autism spectrum disordercase
https://pubmed.ncbi.nlm.nih.gov/33864376/
Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental...
The Polycomb group (PcG) gene RNF2 (RING2) encodes a catalytic subunit of the Polycomb repressive complex 1 (PRC1), an evolutionarily conserved machinery that...
de novoraredeleteriousmissensevariants
https://cysma.chu-montpellier.fr/cgi-bin/CYSMA/CYSMA.cgi?variant=p.(Met152Leu)&gene=CFTR&
Welcome to CYSMA - Cystic Fibrosis Missense Analysis
Website dedicated to the in silico analysis of missense variants in the CFTR gene
cystic fibrosiswelcomemissenseanalysis
https://www.mdpi.com/2073-4425/11/7/774?fbclid=IwAR0fBRZuRMYK4VL6jpLw__x1z1l9kC2-fOpa5Cz43L8NCYIzvVzr-ohGjW4
Mitochondrial PCK2 Missense Variant in Shetland Sheepdogs with Paroxysmal Exercise-Induced...
Four female Shetland Sheepdogs with hypertonic paroxysmal dyskinesia, mainly triggered by exercise and stress, were investigated in a retrospective...
missense variantmitochondrialshetlandsheepdogsparoxysmal
https://www.cleverjournal.org/thymine-cytosine-missense-mutation-at-nucleotide-3538-in-fibrillin-1-gene-in-marfan-syndrome-a-case-report-of-an-aggressive-phenotype/
Thymine > cytosine missense mutation at nucleotide 3538 in fibrillin-1 gene in Marfan syndrome: A...
missense mutationthyminecytosinenucleotidefibrillin