Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome
about
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interactionMechanisms of cohesin-mediated gene regulation and lessons learned from cohesinopathiesCohesinopathies of a feather flock togetherThe ancient and evolving roles of cohesin in gene expression and DNA repairCohesin mutations in myeloid malignancies: underlying mechanismsA direct role for cohesin in gene regulation and ecdysone response in Drosophila salivary glandsDisorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation SyndromesGenome-wide studies of CCCTC-binding factor (CTCF) and cohesin provide insight into chromatin structure and regulationCongenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysisCohesin: functions beyond sister chromatid cohesionClustered protocadherinsReduction of Nipbl impairs cohesin loading locally and affects transcription but not cohesion-dependent functions in a mouse model of Cornelia de Lange SyndromeA unique role of cohesin-SA1 in gene regulation and developmentMultifactorial origins of heart and gut defects in nipbl-deficient zebrafish, a model of Cornelia de Lange SyndromeA neural crest origin for cohesinopathy heart defectsNipbl Interacts with Zfp609 and the Integrator Complex to Regulate Cortical Neuron Migration.Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.Localisation of the SMC loading complex Nipbl/Mau2 during mammalian meiotic prophase IRad21-cohesin haploinsufficiency impedes DNA repair and enhances gastrointestinal radiosensitivity in mice.A zebrafish model of Roberts syndrome reveals that Esco2 depletion interferes with development by disrupting the cell cycleTranscriptional regulation and its misregulation in disease.Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controlsPositive regulation of c-Myc by cohesin is direct, and evolutionarily conserved.Dosage-sensitive regulation of cohesin chromosome binding and dynamics by Nipped-B, Pds5, and WaplCohesin gene mutations in tumorigenesis: from discovery to clinical significanceNipbl and mediator cooperatively regulate gene expression to control limb development.Cohesin proteins promote ribosomal RNA production and protein translation in yeast and human cells.A novel mouse model for the hyper-IgM syndrome: a spontaneous activation-induced cytidine deaminase mutation leading to complete loss of Ig class switching and reduced somatic hypermutationThe Drosophila MI-2 chromatin-remodeling factor regulates higher-order chromatin structure and cohesin dynamics in vivo.A cohesin-independent role for NIPBL at promoters provides insights in CdLS.Sister acts: coordinating DNA replication and cohesion establishment.The maintenance of chromosome structure: positioning and functioning of SMC complexes.Cohesin is required for activation of MYC by estradiol.Genome-wide control of RNA polymerase II activity by cohesinCohesin: genomic insights into controlling gene transcription and developmentCohesin mediates chromatin interactions that regulate mammalian β-globin expressionStimulation of mTORC1 with L-leucine rescues defects associated with Roberts syndrome.L-leucine partially rescues translational and developmental defects associated with zebrafish models of Cornelia de Lange syndrome.The contribution of cohesin-SA1 to gene expression and chromatin architecture in two murine tissues.Enhanced expression of cohesin loading factor NIPBL confers poor prognosis and chemotherapy resistance in non-small cell lung cancer
P2860
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P2860
Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome
description
2009 nî lūn-bûn
@nan
2009 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Multiple organ system defects ...... of Cornelia de Lange Syndrome
@ast
Multiple organ system defects ...... of Cornelia de Lange Syndrome
@en
Multiple organ system defects ...... of Cornelia de Lange Syndrome
@nl
type
label
Multiple organ system defects ...... of Cornelia de Lange Syndrome
@ast
Multiple organ system defects ...... of Cornelia de Lange Syndrome
@en
Multiple organ system defects ...... of Cornelia de Lange Syndrome
@nl
prefLabel
Multiple organ system defects ...... of Cornelia de Lange Syndrome
@ast
Multiple organ system defects ...... of Cornelia de Lange Syndrome
@en
Multiple organ system defects ...... of Cornelia de Lange Syndrome
@nl
P2093
P2860
P3181
P1433
P1476
Multiple organ system defects ...... of Cornelia de Lange Syndrome
@en
P2093
Abigail Chua
Andre Nussenzweig
Anne L Calof
Arthur D Lander
Clint M Young
Kyoko Yokomori
Leonard Kitzes
Mark S Lechner
Martha E Lopez-Burks
Michelle P Hoang
P2860
P304
P3181
P356
10.1371/JOURNAL.PGEN.1000650
P407
P577
2009-09-18T00:00:00Z