about
A census of human soluble protein complexesMechanisms of cohesin-mediated gene regulation and lessons learned from cohesinopathiesCohesinopathies of a feather flock togetherMeiosis-specific cohesin component, Stag3 is essential for maintaining centromere chromatid cohesion, and required for DNA repair and synapsis between homologous chromosomesCompromised Structure and Function of HDAC8 Mutants Identified in Cornelia de Lange Syndrome Spectrum DisordersChl1 DNA helicase regulates Scc2 deposition specifically during DNA-replication in Saccharomyces cerevisiae.Disorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation SyndromesCohesin: functions beyond sister chromatid cohesionDe novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.Cohesion promotes nucleolar structure and functionDefective sister chromatid cohesion is synthetically lethal with impaired APC/C function.A neural crest origin for cohesinopathy heart defectsLoss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes.Cornelia de Lange syndrome: Correlation of brain MRI findings with behavioral assessment.Immunologic features of Cornelia de Lange syndrome.Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndromeChecks and balances between cohesin and polycomb in gene silencing and transcription.Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controlsCohesin gene mutations in tumorigenesis: from discovery to clinical significanceGenetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome.Recurrent mutations in multiple components of the cohesin complex in myeloid neoplasms.Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis.Stimulation of mTORC1 with L-leucine rescues defects associated with Roberts syndrome.Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.L-leucine partially rescues translational and developmental defects associated with zebrafish models of Cornelia de Lange syndrome.Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstructionGermline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesinUnusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report.Clinical utility gene card for: Cornelia de Lange syndromeThe Use of Laser Microirradiation to Investigate the Roles of Cohesins in DNA Repair.Biochemical and structural characterization of HDAC8 mutants associated with Cornelia de Lange syndrome spectrum disordersDrosophila Nipped-B Mutants Model Cornelia de Lange Syndrome in Growth and Behavior.Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes.Reduced cohesin destabilizes high-level gene amplification by disrupting pre-replication complex bindings in human cancers with chromosomal instability.Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome.Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange SyndromeCohesin codes - interpreting chromatin architecture and the many facets of cohesin function.Cornelia de Lange Syndrome: NIPBL haploinsufficiency downregulates canonical Wnt pathway in zebrafish embryos and patients fibroblasts.
P2860
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P2860
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh
2012年學術文章
@zh-hant
name
RAD21 mutations cause a human cohesinopathy
@ast
RAD21 mutations cause a human cohesinopathy
@en
type
label
RAD21 mutations cause a human cohesinopathy
@ast
RAD21 mutations cause a human cohesinopathy
@en
prefLabel
RAD21 mutations cause a human cohesinopathy
@ast
RAD21 mutations cause a human cohesinopathy
@en
P2093
P2860
P50
P1476
RAD21 mutations cause a human cohesinopathy
@en
P2093
Abhinav Rampuria
Diana Braunholz
Dinah Clark
Emma Dickinson
Eva Rossier
Frank J Kaiser
Hakon Hakonarson
Huiling Xu
Ian D Krantz
Jonathan J Wilde
P2860
P304
P356
10.1016/J.AJHG.2012.04.019
P407
P50
P577
2012-05-24T00:00:00Z