Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B - Test2 - elhamkhani - TriplyDB

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

http://www.wikidata.org/entity/Q24293248

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Genetic architecture of body size in mammals The coiled coils of cohesin are conserved in animals, but not in yeast Transcriptional dysregulation in NIPBL and cohesin mutant human cells Metazoan Scc4 homologs link sister chromatid cohesion to cell and axon migration guidance HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle 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 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 Cohesinopathies of a feather flock together The ancient and evolving roles of cohesin in gene expression and DNA repair Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 CdLS pregnancies 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 Genome-wide studies of CCCTC-binding factor (CTCF) and cohesin provide insight into chromatin structure and regulation 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 Cohesin regulates tissue-specific expression by stabilizing highly occupied cis-regulatory modules A unique role of cohesin-SA1 in gene regulation and development

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Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

http://www.wikidata.org/entity/Q24293248

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2004 nî lūn-bûn

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2004 թուականի Յունիսին հրատարակուած գիտական յօդուած

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2004 թվականի հունիսին հրատարակված գիտական հոդված

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2004年の論文

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Cornelia de Lange syndrome is ...... osophila melanogaster Nipped-B

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Cornelia de Lange syndrome is ...... osophila melanogaster Nipped-B

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Cornelia de Lange syndrome is ...... osophila melanogaster Nipped-B

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Cornelia de Lange syndrome is ...... osophila melanogaster Nipped-B

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Cornelia de Lange syndrome is ...... osophila melanogaster Nipped-B

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Cornelia de Lange syndrome is ...... osophila melanogaster Nipped-B

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Cornelia de Lange syndrome is ...... osophila melanogaster Nipped-B

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Cornelia de Lange syndrome is ...... osophila melanogaster Nipped-B

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Cornelia de Lange syndrome is ...... osophila melanogaster Nipped-B

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Cornelia de Lange syndrome is ...... osophila melanogaster Nipped-B

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Cornelia de Lange syndrome is ...... osophila melanogaster Nipped-B

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Anne L Calof

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Armand Bottani

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Arthur D Lander

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Cheryl DeScipio

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Dinah Yaeger

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Eric Rappaport

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Helga Toriello

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Hui-Hua Li

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Ian D Krantz

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Jennifer McCallum

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Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

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.

Regulation of lens fiber cell differentiation by transcription factor c-Maf

Parametric and nonparametric linkage analysis: a unified multipoint approach

HEAT repeats associated with condensins, cohesins, and other complexes involved in chromosome-related functions

Nipped-B, a Drosophila homologue of chromosomal adherins, participates in activation by remote enhancers in the cut and Ultrabithorax genes.

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes

The Brachmann-de Lange syndrome.

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10.1038/NG1364

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6

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36

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Marcella Devoto

Colleen A. Morris

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2004-06-01T00:00:00Z

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Drosophila melanogaster

face morphogenesis

NIPBL cohesin loading factor

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4902017

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