Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: evidence for impaired recombinational repair (Q24304181)

cellular response to X-ray

GOA release 2020-03-11

1 reference

Cornelia de Lange syndrome

GOA release 2020-03-11

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9

Leon H F Mullenders

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Mischa G Vrouwe

Elhaam Elghalbzouri-Maghrani

1

object named as

Mischa G Vrouwe

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2

object named as

Elhaam Elghalbzouri-Maghrani

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Barbara C Godthelp

5

object named as

Barbara C Godthelp

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author name string

Matty Meijers

3

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Peter Schouten

4

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Zahurul A Bhuiyan

6

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Egbert J Redeker

7

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Marcel M Mannens

8

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Albert Pastink

10

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Firouz Darroudi

de Lange syndrome: a clinical review of 310 individuals

11

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language of work or name

English

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publication date

15 June 2007

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published in

Human Molecular Genetics

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volume

16

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page(s)

1478-87

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issue

12

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cites work

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Roberts syndrome: a review of 100 cases and a new rating system for severity

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

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

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NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome.

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Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience

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Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients

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X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

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Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations

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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

21 January 2018

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Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome

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Cohesins: chromosomal proteins that prevent premature separation of sister chromatids

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Live-cell imaging reveals a stable cohesin-chromatin interaction after but not before DNA replication

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

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Human Scc4 is required for cohesin binding to chromatin, sister-chromatid cohesion, and mitotic progression

21 January 2018

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Metazoan Scc4 homologs link sister chromatid cohesion to cell and axon migration guidance

21 January 2018

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PCNA controls establishment of sister chromatid cohesion during S phase

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Establishment of sister chromatid cohesion at the S. cerevisiae replication fork

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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

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

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Postreplicative recruitment of cohesin to double-strand breaks is required for DNA repair.

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DNA damage response pathway uses histone modification to assemble a double-strand break-specific cohesin domain

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Scc1/Rad21/Mcd1 is required for sister chromatid cohesion and kinetochore function in vertebrate cells

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Specific recruitment of human cohesin to laser-induced DNA damage

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Identification of conserved pathways of DNA-damage response and radiation protection by genome-wide RNAi

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Homologous recombination and non-homologous end-joining pathways of DNA double-strand break repair have overlapping roles in the maintenance of chromosomal integrity in vertebrate cells

21 January 2018

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Pathways of DNA double-strand break repair during the mammalian cell cycle

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Mimosine is a potent clastogen in primary and transformed hamster fibroblasts but not in primary or transformed human lymphocytes.

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Sister chromatid exchanges are mediated by homologous recombination in vertebrate cells

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Molecular mechanisms of sister-chromatid exchange

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Cytogenetical characterization of UV-sensitive repair-deficient CHO cell line 43-3B. II. Induction of cell killing, chromosomal aberrations and sister-chromatid exchanges by 4NQO, mono- and bi-functional alkylating agents

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Role of the human RAD51 protein in homologous recombination and double-stranded-break repair.

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Nuclear foci of mammalian Rad51 recombination protein in somatic cells after DNA damage and its localization in synaptonemal complexes

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Rad51 accumulation at sites of DNA damage and in postreplicative chromatin

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Evidence for a lack of DNA double-strand break repair in human cells exposed to very low x-ray doses

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Ctf7p is essential for sister chromatid cohesion and links mitotic chromosome structure to the DNA replication machinery

21 January 2018

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Saccharomyces cerevisiae CTF18 and CTF4 are required for sister chromatid cohesion

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Mammalian Rad51C contributes to DNA cross-link resistance, sister chromatid cohesion and genomic stability

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Role of mammalian RAD51L2 (RAD51C) in recombination and genetic stability

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DNA interstrand cross-link repair in Saccharomyces cerevisiae.

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Double-strand breaks arising by replication through a nick are repaired by cohesin-dependent sister-chromatid exchange.

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Adenocarcinoma of the esophagus complicating Cornelia de Lange syndrome

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Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome

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Effects of sister chromatid cohesion proteins on cut gene expression during wing development in Drosophila

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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

21 January 2018

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New Giemsa method for the differential staining of sister chromatids

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Brachmann-de Lange syndrome. Delineation of the clinical phenotype

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7 January 2021

Effects of X-irradiation in G1 and G2 on Bloom's Syndrome and normal chromosomes

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

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Cellular characterization of cells from the Fanconi anemia complementation group, FA-D1/BRCA2

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7 January 2021

Cornelia de Lange syndrome associated with a suprasellar germinoma.

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7 January 2021