Closely spaced multiple mutations as potential signatures of transient hypermutability in human genes
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The rate of establishment of complex adaptationsMassive genomic rearrangement acquired in a single catastrophic event during cancer developmentMolecular mechanisms of disease-causing missense mutationsThe rate of spontaneous mutations in human myeloid cellsError-prone polymerase activity causes multinucleotide mutations in humans.Oncogenic potential is related to activating effect of cancer single and double somatic mutations in receptor tyrosine kinasesOn the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.Interlocus gene conversion events introduce deleterious mutations into at least 1% of human genes associated with inherited diseaseSpecific and global coagulation tests in patients with mild haemophilia A with a double mutation (Glu113Asp, Arg593Cys).Pervasive multinucleotide mutational events in eukaryotes.Gene conversion in human genetic disease.Challenges of multiple mutations in individual patients with haemophilia.Prevalence of multinucleotide replacements in evolution of primates and Drosophila.Characterization of 26 deletion CNVs reveals the frequent occurrence of micro-mutations within the breakpoint-flanking regions and frequent repair of double-strand breaks by templated insertions derived from remote genomic regions.Patterns and mutational signatures of tandem base substitutions causing human inherited disease."Patchy-tachy" leads to false positives for recombination.A novel double mutation in cis in MFN2 causes Charcot-Marie-Tooth neuropathy type 2A.Complex Multiple-Nucleotide Substitution Mutations Causing Human Inherited Disease Reveal Novel Insights into the Action of Translesion Synthesis DNA Polymerases.Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome.Concurrent Nucleotide Substitution Mutations in the Human Genome Are Characterized by a Significantly Decreased Transition/Transversion RatioDisclosing the Hidden Structure and Underlying Mutational Mechanism of a Novel Type of Duplication CNV Responsible for Hereditary Multiple OsteochondromasA New and More Accurate Estimate of the Rate of Concurrent Tandem-Base Substitution Mutations in the Human Germline: ∼0.4% of the Single-Nucleotide Substitution Mutation Rate
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Closely spaced multiple mutations as potential signatures of transient hypermutability in human genes
description
article
@en
im Oktober 2009 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в жовтні 2009
@uk
name
Closely spaced multiple mutati ...... hypermutability in human genes
@en
Closely spaced multiple mutati ...... hypermutability in human genes
@nl
type
label
Closely spaced multiple mutati ...... hypermutability in human genes
@en
Closely spaced multiple mutati ...... hypermutability in human genes
@nl
prefLabel
Closely spaced multiple mutati ...... hypermutability in human genes
@en
Closely spaced multiple mutati ...... hypermutability in human genes
@nl
P2860
P356
P1433
P1476
Closely spaced multiple mutati ...... hypermutability in human genes
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P2093
Claude Férec
Jian-Min Chen
P2860
P304
P356
10.1002/HUMU.21088
P577
2009-10-01T00:00:00Z