Modelling the order of driver mutations and metabolic mutations as structures in cancer dynamics [PDF]
arXiv, 2017 Recent works have stressed the important role that random mutations have in the development of cancer phenotype. We challenge this current view by means of bioinformatic data analysis and computational modelling approaches. Not all the mutations are equally important for the development of metastasis.
arxiv
A missense mutation in the vasopressin-neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus. [PDF]
, 1992 Ulrich Bahnsen +5 more
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Human glucokinase gene: Isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus [PDF]
, 1992 openalex +1 more source
INFLUENCE OF TAQI POLYMORPHISM IN MELANOCORTIN RECEPTOR (MC4R) ON PIG SLAUGHTERING TRAITS [PDF]
Poljoprivreda, 2009 The aim of the research was to determine the influence of polymorphism in MC4R genes on slaughtering traits. The research was carried out on 60 crossbreeds of Large White and German Landrace in the dam line and of Duroc in the sire line.
Vladimir Margeta +3 more
doaj
Fine-tuning the ESM2 protein language model to understand the functional impact of missense variants [PDF]
arXivElucidating the functional effect of missense variants is of crucial importance, yet challenging. To understand the impact of such variants, we fine-tuned the ESM2 protein language model to classify 20 protein features at amino acid resolution. We used the resulting models to: 1) identify protein features that are enriched in either pathogenic or ...
arxiv
First de novo mutations in the protein C gene of two patients with type I deficiency: a missense mutation and a splice site deletion [PDF]
, 1994 Sophie Gandrille +4 more
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Annals of Saudi Medicine, 2011 Background and Objectives: Peroxisome proliferator-activated receptors (PPARs) play an important role in a number of cellular and metabolic functions. This study was carried out to determine the prevalence of a missense mutation (Pro12Ala) in the PPARG2 ...
Al-Jarallah Khaled +2 more
doaj
Generation of Casp8FL122/123GG Mice Using CRISPR-Cas9 Technology
STAR Protocols, 2020 Summary: The purpose of this protocol is to describe the generation of missense mutations in mice using CRISPR-Cas9 technology. The current protocol focuses on the generation of a Casp8FL122/123GG missense mutation, but it can be adapted to introduce any
Stephane Pelletier +2 more
doaj
VEPerform: a web resource for evaluating the performance of variant effect predictors [PDF]
arXivComputational variant effect predictors (VEPs) are providing increasingly strong evidence to classify the pathogenicity of missense variants. Precision vs. recall analysis is useful in evaluating VEP performance, especially when adjusted for imbalanced test sets.
arxiv
Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements [PDF]
, 1999 Ian D’Souza +6 more
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