Cornelia de Lange syndrome, cohesin, and beyond (Q24596109)

Cornelia de Lange syndrome

Europe PubMed Central

title

Cornelia de Lange syndrome, cohesin, and beyond (English)

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main subject

1 reference

J Liu

1

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I D Krantz

series ordinal

2

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language of work or name

English

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publication date

October 2009

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published in

Clinical Genetics

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volume

76

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issue

4

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page(s)

303-14

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cites work

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

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24 March 2017

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Yeast cohesin complex requires a conserved protein, Eco1p(Ctf7), to establish cohesion between sister chromatids during DNA replication

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24 March 2017

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24 March 2017

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24 March 2017

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24 March 2017

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24 March 2017

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On the molecular etiology of Cornelia de Lange syndrome

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Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA

27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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Natural history of aging in Cornelia de Lange syndrome

27 September 2017

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27 September 2017

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27 September 2017

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Unscheduled overexpression of human WAPL promotes chromosomal instability

27 September 2017

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Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation

27 September 2017

1 reference

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A multi-step pathway for the establishment of sister chromatid cohesion

27 September 2017

1 reference

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27 September 2017

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A mutation in separase causes genome instability and increased susceptibility to epithelial cancer

27 September 2017

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27 September 2017

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Condensin is required for chromosome arm cohesion during mitosis

27 September 2017

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27 September 2017

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Targeting of cohesin by transcriptionally silent chromatin.

27 September 2017

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Sister chromatid cohesion along arms and at centromeres

27 September 2017

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

27 September 2017

1 reference

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The human papillomavirus E6 and E7 inducible oncogene, hWAPL, exhibits potential as a therapeutic target

27 September 2017

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Identification and cloning of a novel chromatin-associated protein partner of Epstein-Barr nuclear protein 2.

27 September 2017

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

27 September 2017

1 reference

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Preferential cleavage of chromatin-bound cohesin after targeted phosphorylation by Polo-like kinase

27 September 2017

1 reference

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Mutations in a partitioning protein and altered chromatin structure at the partitioning locus prevent cohesin recruitment by the Saccharomyces cerevisiae plasmid and cause plasmid missegregation

27 September 2017

1 reference

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Expression of a novel human gene, human wings apart-like (hWAPL), is associated with cervical carcinogenesis and tumor progression

27 September 2017

1 reference

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

27 September 2017

1 reference

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Two putative acetyltransferases, san and deco, are required for establishing sister chromatid cohesion in Drosophila

27 September 2017

1 reference

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cis-acting DNA from fission yeast centromeres mediates histone H3 methylation and recruitment of silencing factors and cohesin to an ectopic site

27 September 2017

1 reference

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

27 September 2017

1 reference

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Characterization of fission yeast cohesin: essential anaphase proteolysis of Rad21 phosphorylated in the S phase

27 September 2017

1 reference

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Behavioural phenotype of Cornelia de Lange syndrome

27 September 2017

1 reference

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

27 September 2017

1 reference

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

27 September 2017

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Developmental data on individuals with the Brachmann-de Lange syndrome

27 September 2017

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Loss of ATRX leads to chromosome cohesion and congression defects

27 September 2017

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Cohesin relocation from sites of chromosomal loading to places of convergent transcription

30 May 2018

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Neuropathological analysis of an adult case of the Cornelia de Lange syndrome

30 May 2018

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Auditory brainstem responses in children with Cornelia de Lange syndrome

30 May 2018

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Cornelia de Lange syndrome. Otolaryngologic manifestations.

30 May 2018

1 reference

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Roberts' syndrome.I. Cytological evidence for a disturbance in chromatid pairing

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

The hand profile on de Lange syndrome: diagnostic criteria

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

A molecular determinant for the establishment of sister chromatid cohesion

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

Cell-type-specific TEV protease cleavage reveals cohesin functions in Drosophila neurons

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

piggyBac-based mosaic screen identifies a postmitotic function for cohesin in regulating developmental axon pruning

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

Mice lacking sister chromatid cohesion protein PDS5B exhibit developmental abnormalities reminiscent of Cornelia de Lange syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

Cohesin-dependent regulation of Runx genes

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

Evidence that Loading of Cohesin Onto Chromosomes Involves Opening of Its SMC Hinge

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

CTCF mediates interchromosomal colocalization between Igf2/H19 and Wsb1/Nf1.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

Ophthalmologic findings in the Cornelia de Lange Syndrome.

28 November 2018

1 reference

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Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

The association between environmental events and self-injurious behaviour in Cornelia de Lange syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

Epithelial re-organization and dynamics of progression through mitosis in Drosophila separase complex mutants

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

Sister-chromatid cohesion mediated by the alternative RF-CCtf18/Dcc1/Ctf8, the helicase Chl1 and the polymerase-alpha-associated protein Ctf4 is essential for chromatid disjunction during meiosis II.

28 November 2018

1 reference

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Orthopaedic manifestations of Brachmann-de Lange syndrome: a report of 34 patients.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

ATP hydrolysis is required for cohesin's association with chromosomes

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

A model for ATP hydrolysis-dependent binding of cohesin to DNA.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

Brain dysgenesis in Cornelia de Lange syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

Thrombocytopenia in the Brachmann-de Lange syndrome

28 November 2018

1 reference

12 December 2020

Growth manifestations in the Brachmann-de Lange syndrome

1 reference

12 December 2020

Physical growth in Brachmann-de Lange syndrome

1 reference

12 December 2020

Occurrence of congenital heart disease in children with Brachmann-de Lange syndrome

1 reference

12 December 2020

Brachmann-de Lange syndrome and congenital heart disease

1 reference

12 December 2020

Anomalies of the kidney and urinary tract are common in de Lange syndrome

1 reference

12 December 2020

Distinct cohesin complexes organize meiotic chromosome domains

1 reference

12 December 2020

Gastroesophageal reflux and Cornelia de Lange syndrome: typical and atypical symptoms

1 reference

12 December 2020

Cornelia de Lange syndrome associated with Wilms' tumour and infantile haemangioendothelioma of the liver: report of two autopsy cases

1 reference

12 December 2020

Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome

1 reference

12 December 2020

Cornelia de Lange syndrome associated with cecal volvulus: report of a case

1 reference

12 December 2020

Self-injurious behavior, self-restraint, and compulsive behaviors in Cornelia de Lange syndrome

1 reference

12 December 2020

Correction: Dosage Effects of Cohesin Regulatory Factor PDS5 on Mammalian Development: Implications for Cohesinopathies.

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2009.01271.X

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1111/J.1399-0004.2009.01271.X

1 reference

1 reference

1 reference

PubMed publication ID

19793304

1 reference