X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. - Wikidata - awgldk - TriplyDB

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

http://www.wikidata.org/entity/Q45345060

about

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 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 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 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 Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers An Overview of Genome Organization and How We Got There: from FISH to Hi-C Mechanisms of cohesin-mediated gene regulation and lessons learned from cohesinopathies 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 Meiosis-specific cohesin component, Stag3 is essential for maintaining centromere chromatid cohesion, and required for DNA repair and synapsis between homologous chromosomes 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 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 Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange A unique role of cohesin-SA1 in gene regulation and development Multifactorial origins of heart and gut defects in nipbl-deficient zebrafish, a model of Cornelia de Lange Syndrome Cohesin, gene expression and development: lessons from Drosophila Decreased cohesin in the brain leads to defective synapse development and anxiety-related behavior De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.Variations in dysfunction of sister chromatid cohesion in esco2 mutant zebrafish reflect the phenotypic diversity of Roberts syndrome A neural crest origin for cohesinopathy heart defects Cohesin interaction with centromeric minichromosomes shows a multi-complex rod-shaped structure.A case of Cornelia de Lange syndrome from Sudan.Regulation of the Drosophila Enhancer of split and invected-engrailed gene complexes by sister chromatid cohesion proteins.Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.

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X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

http://www.wikidata.org/entity/Q45345060

description

2006 nî lūn-bûn

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2006年の論文

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2006年学术文章

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2006年学术文章

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2006年学术文章

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2006年学术文章

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2006年学术文章

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2006年学术文章

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2006年學術文章

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2006年學術文章

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name

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

@en

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

@nl

type

label

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

@en

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

@nl

prefLabel

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

@en

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

@nl

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Nature Genetics

P1476

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

@en

P2093

Angelo Selicorni

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Lidia Larizza

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Maria Luisa Focarelli

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Paolo Vezzoni

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Silvia Russo

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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

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

Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.

Sister chromatid cohesion is required for postreplicative double-strand break repair in Saccharomyces cerevisiae.

Chromosomal cohesin forms a ring

Dynamic molecular linkers of the genome: the first decade of SMC proteins

The DXS423E gene in Xp11.21 escapes X chromosome inactivation

NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.

Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion.

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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10.1038/NG1779

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5

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38

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Cristina Gervasini

Donatella Milani

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2006-04-09T00:00:00Z

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7176006

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1025561634

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16604071

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