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.
about
A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French familyAPE1 incision activity at abasic sites in tandem repeat sequencesGuanine holes are prominent targets for mutation in cancer and inherited diseaseDHX9 helicase is involved in preventing genomic instability induced by alternatively structured DNA in human cellsA canine orthologue of the human GFAP c.716G>A (p.Arg239His) variant causes Alexander disease in a Labrador retriever.Mutation spectrum of Drosophila CNVs revealed by breakpoint sequencing.Mitochondrial DNA deletions are associated with non-B DNA conformationsThe Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicineMitoBreak: the mitochondrial DNA breakpoints database.Potential non-B DNA regions in the human genome are associated with higher rates of nucleotide mutation and expression variation.SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints.Direct and inverted repeats elicit genetic instability by both exploiting and eluding DNA double-strand break repair systems in mycobacteria.Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease.Interlocus gene conversion events introduce deleterious mutations into at least 1% of human genes associated with inherited diseaseThe somatic autosomal mutation matrix in cancer genomes.Searching for non-B DNA-forming motifs using nBMST (non-B DNA motif search tool)Copy number variants in the sheep genome detected using multiple approachesThe Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.Complement component 4 copy number variation and CYP21A2 genotype associations in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.New clinical and molecular insights on Barth syndromePreservation of methylated CpG dinucleotides in human CpG islandsSister chromatid telomere fusions, but not NHEJ-mediated inter-chromosomal telomere fusions, occur independently of DNA ligases 3 and 4.DNA structure matters.Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP71q21.1 Microduplication expression in adults.DNA damage tolerance and a web of connections with DNA repair at Yale.DNA polymerases ζ and Rev1 mediate error-prone bypass of non-B DNA structures.Integrating genomic and epigenomic information: a promising strategy for identifying functional DNA variants of human disease.A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease.Genome instability: does genetic diversity amplification drive tumorigenesis?Emerging trends in G-quadruplex biology--role in epigenetic and evolutionary events.Mitochondrial DNA rearrangements in health and disease--a comprehensive study.Molecular genetic epidemiology of human diseases: from patterns to predictions.Genetics and pathogenesis of autosomal dominant polycystic kidney disease: 20 years on.The interaction between cytosine methylation and processes of DNA replication and repair shape the mutational landscape of cancer genomes.Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease.Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.The human RIT2 core promoter short tandem repeat predominant allele is species-specific in length: a selective advantage for human evolution?DNA mutation motifs in the genes associated with inherited diseases.Triplex-induced DNA damage response.
P2860
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P2860
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.
description
2011 nî lūn-bûn
@nan
2011 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
On the sequence-directed natur ...... lying human inherited disease.
@ast
On the sequence-directed natur ...... lying human inherited disease.
@en
type
label
On the sequence-directed natur ...... lying human inherited disease.
@ast
On the sequence-directed natur ...... lying human inherited disease.
@en
prefLabel
On the sequence-directed natur ...... lying human inherited disease.
@ast
On the sequence-directed natur ...... lying human inherited disease.
@en
P2093
P2860
P356
P1433
P1476
On the sequence-directed natur ...... lying human inherited disease.
@en
P2093
Claude Férec
Hildegard Kehrer-Sawatzki
Jian-Min Chen
Karen M Vasquez
P2860
P304
P356
10.1002/HUMU.21557
P577
2011-09-02T00:00:00Z