Closely spaced multiple mutations as potential signatures of transient hypermutability in human genes - Wikidata - awgldk - TriplyDB

Closely spaced multiple mutations as potential signatures of transient hypermutability in human genes

Closely spaced multiple mutations as potential signatures of transient hypermutability in human genes

http://www.wikidata.org/entity/Q57263735

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The rate of establishment of complex adaptations Massive genomic rearrangement acquired in a single catastrophic event during cancer development Molecular mechanisms of disease-causing missense mutations The rate of spontaneous mutations in human myeloid cells Error-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 kinases On 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 disease Specific 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 Ratio Disclosing the Hidden Structure and Underlying Mutational Mechanism of a Novel Type of Duplication CNV Responsible for Hereditary Multiple Osteochondromas A 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

http://www.wikidata.org/entity/Q57263735

description

article

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im Oktober 2009 veröffentlichter wissenschaftlicher Artikel

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wetenschappelijk artikel

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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

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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

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Closely spaced multiple mutati ...... hypermutability in human genes

@en

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Claude Férec

http://www.w3.org/2001/XMLSchema#string

Jian-Min Chen

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Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center

Spontaneous tandem-base mutations (TBM) show dramatic tissue, age, pattern and spectrum specificity.

Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency

Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a double missense mutation in the cytosolic gp91phox C-terminal tail.

Evidence that proximal multiple mutations in Big Blue transgenic mice are dependent events.

Spontaneous multiple mutations show both proximal spacing consistent with chronocoordinate events and alterations with p53-deficiency.

Two germline missense mutations at codons 804 and 806 of the RET proto-oncogene in the same allele in a patient with multiple endocrine neoplasia type 2B without codon 918 mutation.

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1435-1448

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scholarly article

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10.1002/HUMU.21088

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10

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30

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David N. Cooper

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2009-10-01T00:00:00Z

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19685533

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