NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome - Test2 - elhamkhani - TriplyDB

NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome

NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome

http://www.wikidata.org/entity/Q24293235

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Transcriptional dysregulation in NIPBL and cohesin mutant human cells Metazoan Scc4 homologs link sister chromatid cohesion to cell and axon migration guidance Single-cell sequencing analysis characterizes common and cell-lineage-specific mutations in a muscle-invasive bladder cancer HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle A genetic screen identifies the Triple T complex required for DNA damage signaling and ATM and ATR stability Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: evidence for impaired recombinational repair Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome The cohesin complex is required for the DNA damage-induced G2/M checkpoint in mammalian cells CTCF physically links cohesin to chromatin The Cohesin loading factor NIPBL recruits histone deacetylases to mediate local chromatin modifications Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction Two human orthologues of Eco1/Ctf7 acetyltransferases are both required for proper sister-chromatid cohesion.Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.Cornelia de Lange syndrome, cohesin, and beyond Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome Mediator and cohesin connect gene expression and chromatin architecture Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers Chromosome cohesion: a cycle of holding together and falling apart An Overview of Genome Organization and How We Got There: from FISH to Hi-C SMC complexes link gene expression and genome architecture Mechanisms of cohesin-mediated gene regulation and lessons learned from cohesinopathies Synthetic lethality and cancer: cohesin and PARP at the replication fork Meiotic development in Caenorhabditis elegans Cohesinopathies of a feather flock together The ancient and evolving roles of cohesin in gene expression and DNA repair A direct role for cohesin in gene regulation and ecdysone response in Drosophila salivary glands Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome Compromised Structure and Function of HDAC8 Mutants Identified in Cornelia de Lange Syndrome Spectrum Disorders Chl1 DNA helicase regulates Scc2 deposition specifically during DNA-replication in Saccharomyces cerevisiae.Disorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation Syndromes Dosage effects of cohesin regulatory factor PDS5 on mammalian development: implications for cohesinopathies Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysis Cohesin: functions beyond sister chromatid cohesion Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange Reduction of Nipbl impairs cohesin loading locally and affects transcription but not cohesion-dependent functions in a mouse model of Cornelia de Lange Syndrome Prehistoric genomes reveal the genetic foundation and cost of horse domestication Epidemiology, genetics and treatments for myopia Multifactorial origins of heart and gut defects in nipbl-deficient zebrafish, a model of Cornelia de Lange Syndrome

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P2860

NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome

http://www.wikidata.org/entity/Q24293235

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NIPBL, encoding a homolog of f ...... in Cornelia de Lange syndrome

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NIPBL, encoding a homolog of f ...... in Cornelia de Lange syndrome

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NIPBL, encoding a homolog of f ...... in Cornelia de Lange syndrome

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NIPBL, encoding a homolog of f ...... in Cornelia de Lange syndrome

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Michael J Bamshad

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Steven Lisgo

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Tom Strachan

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Tzu-Jou Wang

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P2860

A novel mammalian wnt gene, WNT8B, shows brain-restricted expression in early development, with sharply delimited expression boundaries in the developing forebrain

de Lange syndrome: a clinical review of 310 individuals

Cohesin's binding to chromosomes depends on a separate complex consisting of Scc2 and Scc4 proteins.

The transcriptional repressor CDP (Cutl1) is essential for epithelial cell differentiation of the lung and the hair follicle

A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome.

De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes

Distant liaisons: long-range enhancer-promoter interactions in Drosophila.

Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences

Faithful anaphase is ensured by Mis4, a sister chromatid cohesion molecule required in S phase and not destroyed in G1 phase

Drosophila nipped-B protein supports sister chromatid cohesion and opposes the stromalin/Scc3 cohesion factor to facilitate long-range activation of the cut gene.

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636-641

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3375115

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10.1038/NG1363

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6

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36

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2004-05-16T00:00:00Z

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8560334

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1026543582

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15146185

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metanephros development

NIPBL cohesin loading factor