Results 31 to 40 of about 14,999,742 (341)
Understanding mutational effects in digenic diseases [PDF]
Nucleic Acids Research, 2017 To further our understanding of the complexity and genetic heterogeneity of rare diseases, it has become essential to shed light on how combinations of variants in different genes are responsible for a disease phenotype. With the appearance of a resource on digenic diseases, it has become possible to evaluate how digenic combinations differ in terms of
Gazzo, A. +6 more
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Subtle mutation, far-reaching effects [PDF]
Journal of General Physiology, 2017 Insufficient sodium-ion extrusion by mutated Na+,K+-ATPases causes hyperaldosteronism.
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Molecular Genetics & Genomic Medicine, 2023 Background Xeroderma pigmentosum is an autosomal recessive disease characterized by a high sensitivity to UV radiations. The disease is clinically and genetically heterogeneous, thus making accurate early clinical diagnosis difficult.
Najlaa Khalat +9 more
doaj +1 more source
Cellular effects of LRRK2 mutations [PDF]
Biochemical Society Transactions, 2012 Mutations in LRRK2 (leucine-rich repeat kinase 2) are a relatively common cause of inherited PD (Parkinson's disease), but the mechanism(s) by which mutations lead to disease are poorly understood. In the present paper, I discuss what is known about LRRK2 in cellular models, focusing specifically on assays that have been used to tease apart the effects
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Journal of Ovarian Research, 2019 ObjectiveTo evaluate impact of germline BRCA mutational status on prognosis in patients with advanced ovarian cancer.MethodsA total of 128 patients diagnosed with FIGO stage III-IV high-grade serous ovarian cancer (HGSOC) between 2008 and 2017 and ...
S. I. Kim +6 more
semanticscholar +1 more source
Neurological effects of glucocerebrosidase gene mutations [PDF]
European Journal of Neurology, 2018 The association between Gaucher disease (GD) and Parkinson disease (PD) has been described for almost two decades. In the biallelic state (homozygous or compound heterozygous) mutations in the glucocerebrosidase gene (GBA) may cause GD, in which glucosylceramide, the sphingolipid substrate of the glucocerebrosidase enzyme (GCase), accumulates in ...
Mullin, S. +3 more
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Mutational drivers of cancer cell migration and invasion
British Journal of Cancer, 2020 Genomic instability and mutations underlie the hallmarks of cancer—genetic alterations determine cancer cell fate by affecting cell proliferation, apoptosis and immune response, and increasing data show that mutations are involved in metastasis, a ...
N. M. Novikov +3 more
semanticscholar +1 more source
The Anomalous Effects of Biased Mutation [PDF]
Genetics, 2003 Abstract A model is presented in which alleles at a number of loci combine to influence the value of a quantitative trait that is subject to stabilizing selection. Mutations can occur to alleles at the loci under consideration. Some of these mutations will tend to increase the value of the trait, while others will tend to decrease it. In
D, Waxman, J R, Peck
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SigsPack, a package for cancer mutational signatures
BMC Bioinformatics, 2019 Background Mutational signatures are specific patterns of somatic mutations introduced into the genome by oncogenic processes. Several mutational signatures have been identified and quantified from multiple cancer studies, and some of them have been ...
Franziska Schumann +5 more
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Functional Bias and Spatial Organization of Genes in Mutational Hot and Cold Regions in the Human Genome [PDF]
, 2004 The neutral mutation rate is known to vary widely along human chromosomes, leading to mutational hot and cold regions. We provide evidence that categories of functionally-related genes reside preferentially in mutationally hot or cold regions, the size ...
Chuang, Jeffrey H., Li, Hao
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