The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.
about
Mechanisms underlying structural variant formation in genomic disordersHereditary spastic paraplegia SPG4: what is known and not known about the disease.Major influence of repetitive elements on disease-associated copy number variants (CNVs)Association of new deletion/duplication region at chromosome 1p21 with intellectual disability, severe speech deficit and autism spectrum disorder-like behavior: an all-in approach to solving the DPYD enigmaThe role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variationsHomozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints.Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination.Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.The contribution of alu elements to mutagenic DNA double-strand break repair.Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations.Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis.Heavy Metal Exposure Influences Double Strand Break DNA Repair Outcomes.DNA REPAIR. Mus81 and converging forks limit the mutagenicity of replication fork breakage.Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndromeCopy-Number Variation Contributes to the Mutational Load of Bardet-Biedl SyndromeAlu elements and DNA double-strand break repair.Human Structural Variation: Mechanisms of Chromosome Rearrangements.Contrasting mechanisms of de novo copy number mutagenesis suggest the existence of different classes of environmental copy number mutagens.Developmental dysplasia of the hip: usefulness of next generation genomic tools for characterizing the underlying genes - a mini review.Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles.A polymorphic Alu insertion that mediates distinct disease-associated deletions.Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.Identification of novel candidate disease genes from de novo exonic copy number variants.Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease.Decoding NF1 Intragenic Copy-Number Variations.Inter-Fork Strand Annealing causes genomic deletions during the termination of DNA replication.WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele.Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.Warning SINEs: Alu elements, evolution of the human brain, and the spectrum of neurological disease.Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders.Mutant spastin proteins promote deficits in axonal transport through an isoform-specific mechanism involving casein kinase 2 activation.Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions.Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia.An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
P2860
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P2860
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.
description
2014 nî lūn-bûn
@nan
2014 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
The Alu-rich genomic architect ...... isease-associated CNV alleles.
@ast
The Alu-rich genomic architect ...... isease-associated CNV alleles.
@en
The Alu-rich genomic architect ...... isease-associated CNV alleles.
@nl
type
label
The Alu-rich genomic architect ...... isease-associated CNV alleles.
@ast
The Alu-rich genomic architect ...... isease-associated CNV alleles.
@en
The Alu-rich genomic architect ...... isease-associated CNV alleles.
@nl
prefLabel
The Alu-rich genomic architect ...... isease-associated CNV alleles.
@ast
The Alu-rich genomic architect ...... isease-associated CNV alleles.
@en
The Alu-rich genomic architect ...... isease-associated CNV alleles.
@nl
P2093
P2860
P50
P1476
The Alu-rich genomic architect ...... isease-associated CNV alleles.
@en
P2093
Andrés Ordóñez-Ugalde
Beatriz Quintáns
Brett C Baggett
Christine J Shaw
Christine R Beck
Izabela D Karbassi
James R Lupski
Jennifer C Scull
John K Fink
P2860
P304
P356
10.1016/J.AJHG.2014.06.014
P407
P577
2014-07-24T00:00:00Z