The age incidence of any cancer can be explained by a one-mutation model [PDF]
arXiv, 2008 We propose a one mutation model for cancer with a mutation rate that increases with time. Under rather general hypotheses the number of mutations is necessarily a (non homogeneous) Poisson process with the prescribed mutation rate. We show that the cumulative probability of cancer up to time $t$ is, up to a multiplicative constant, an antiderivative of
arxiv
Cutaneous white spots in a child with polycystic kidneys: a clue to TSC2/PKD1 gene mutation [PDF]
, 2000 Markus Sperandio +5 more
openalex +1 more source
Interference effects of deleterious and beneficial mutations in large asexual populations [PDF]
Genetics 211, 1357-1369 (2019), 2018 Linked beneficial and deleterious mutations are known to decrease the fixation probability of a favorable mutation in large asexual populations. While the hindering effect of strongly deleterious mutations on adaptive evolution has been well studied, how weak deleterious mutations, either in isolation or with superior beneficial mutations, influence ...
arxiv
The Arabidopsis immutans Mutation Affects Plastid Differentiation and the Morphogenesis of White and Green Sectors in Variegated Plants [PDF]
, 2001 Maneesha Aluru +3 more
openalex +1 more source
ACTA2 leukovasculopathy: A rare pediatric white matter disorder
Radiology Case Reports, 2020 A 3-year-old girl presented with ataxia, dilated pupils, and behavioral change prompting work up for stroke. Her medical history included chronic mydriasis and patent ductus arteriosus requiring aortoplasty.
Tonia M. Sabo, MD +4 more
doaj
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
Incidence of the endothelin receptor B mutation that causes lethal white foal syndrome in white-patterned horses [PDF]
, 2001 Elizabeth M. Santschi +3 more
openalex +1 more source
Mitochondrial DNA disorders in neuromuscular diseases in diverse populations
Annals of Clinical and Translational Neurology, EarlyView.Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao +34 more
wiley +1 more source
Fixation probability of rare nonmutator and evolution of mutation rates [PDF]
Ecology and Evolution 6, 755-764 (2016), 2015 Although mutations drive the evolutionary process, the rates at which the mutations occur are themselves subject to evolutionary forces. Our purpose here is to understand the role of selection and random genetic drift in the evolution of mutation rates, and we address this question in asexual populations at mutation-selection equilibrium neglecting ...
arxiv
Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene [PDF]
, 2018 Purpose: To identify the genetic defect, and to phenotype, three consanguineous Tunisian families presenting with early-onset retinal degeneration (EORD). Methods: All accessible family members were included.
Ambresin, Aude +8 more
core