Nouhravesh, N. et al. Analyses of more than 60,000 exomes questions the role of numerous genes previously associated with dilated cardiomyopathy. Mol. Genet. Genom Med. 4, 617-623 (2016).Nouhravesh, N., Ahlberg, G., Ghouse, J., Andreasen, C., Svendsen, J.H., Haunso, S., 843 ...
Sometimes, however, the mutation is not repaired and is passed on when the cell divides. If the mutation is harmful and interferes with a critical function, such as regulating cell growth or DNA repair, the mutation can make the cells more cancer-like. If enough of these mutations occur in...
mutational resistance is the chromosome of individual organisms, for instance, chloramphenicol-resistant mutants ofS. aureuspossesses 23 S rDNA mutations and can as well be cross-resistant to linezolid (North et al., 2005). In this type of antibiotic resistance by mutation, combination therapy is ...
et al. Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene. Nat. Genet. 9, 160–164 (1995). Article CAS PubMed Google Scholar Andersson, A. M. et al. Longitudinal reproductive hormone profiles in infants: peak of inhibin B levels in inf...
Understanding genetic innovation requires two questions to be addressed: which gene was involved in the duplication; and how has natural selection acted on that duplication to optimize the novel function? Genes with functions such as enzymes, transporters and transcription factors often survive in duplic...
The evolution of mitogenomes: questions answered and questions outstanding Before we address the question of how to explain mitochondrial coding diversity, we must get a few others asked, answered, and out of the way. The simplest question about mitogenomes is: Why do mitogenomes exist at all...
is truly the case and whether both CRP and MRP genes are associated with Minute phenotypes are open and intriguing questions. ManyMinuteloci were originally identified from the phenotypes of flies heterozygous for a chromosomal deletion [54,55] and allMinutepoint mutations studied in depth have ...
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I present a revised model of AID function in somatic hypermutation (SHM): In a B cell that produces AID protein and undergoes mutation of the V regions of the expressed Ig heavy and light chain genes, only some of the transcription complexes initiating at the active V-region promoters are ...
(LoF) mutation is one of the main mechanisms underlying gene loss through the gain of a premature stop codon, splice site disruption, or disruption of a transcript reading frame (Albalat and Cañestro, 2016). LoF mutational variation provides a way for understanding of the phenotypic con- sequ...