Diverse developmental disorders from the one ring: distinct molecular pathways underlie the cohesinopathies.
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Chromatin Dynamics in the Regulation of CFTR ExpressionSMC complexes link gene expression and genome architectureMechanisms of cohesin-mediated gene regulation and lessons learned from cohesinopathiesMolecular functions and cellular roles of the ChlR1 (DDX11) helicase defective in the rare cohesinopathy Warsaw breakage syndromeCohesin mutations in myeloid malignancies: underlying mechanismsOf Rings and Rods: Regulating Cohesin Entrapment of DNA to Generate Intra- and Intermolecular TethersCohesin: functions beyond sister chromatid cohesionVariations in dysfunction of sister chromatid cohesion in esco2 mutant zebrafish reflect the phenotypic diversity of Roberts syndromeA neural crest origin for cohesinopathy heart defects3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome.Phosphorylation of the Scc2 cohesin deposition complex subunit regulates chromosome condensation through cohesin integrity.Case Report: Atypical Cornelia de Lange Syndrome.Administration of genetic expression by multi-task proteins and long-range action.Using mouse and zebrafish models to understand the etiology of developmental defects in Cornelia de Lange SyndromeHDAC8 Inhibition Blocks SMC3 Deacetylation and Delays Cell Cycle Progression without Affecting Cohesin-dependent Transcription in MCF7 Cancer Cells.Control of vertebrate development by MYCStructural maintenance of chromosome complexes and bone development: the beginning of a wonderful relationship?The Drosophila enhancer of split gene complex: architecture and coordinate regulation by notch, cohesin, and polycomb group proteins.How many roads lead to cohesinopathies?Single-Molecule Imaging Reveals a Collapsed Conformational State for DNA-Bound Cohesin.The effect of Nipped-B-like (Nipbl) haploinsufficiency on genome-wide cohesin binding and target gene expression: modeling Cornelia de Lange syndrome.The Mendelian disorders of the epigenetic machinery.Esco2 regulates cx43 expression during skeletal regeneration in the zebrafish fin.Cohesin facilitates zygotic genome activation in zebrafish.Cohesin mediates Esco2-dependent transcriptional regulation in a zebrafish regenerating fin model of Roberts Syndrome.Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.NIPBL, a cohesion loading factor, is somatically mutated in gastric and colorectal cancers with high microsatellite instability.Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.
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P2860
Diverse developmental disorders from the one ring: distinct molecular pathways underlie the cohesinopathies.
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article científic
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article scientifique
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articol științific
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articolo scientifico
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artigo científico
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artigo científico
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artigo científico
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artikel ilmiah
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artikull shkencor
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artículo científico
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name
Diverse developmental disorder ...... underlie the cohesinopathies.
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type
label
Diverse developmental disorder ...... underlie the cohesinopathies.
@en
prefLabel
Diverse developmental disorder ...... underlie the cohesinopathies.
@en
P2860
P356
P1476
Diverse developmental disorder ...... underlie the cohesinopathies.
@en
P2093
Maren Mönnich
P2860
P356
10.3389/FGENE.2012.00171
P577
2012-09-12T00:00:00Z