SMC1A codon 496 mutations affect the cellular response to genotoxic treatments. (Q53201232)

12 May 2018

title

SMC1A codon 496 mutations affect the cellular response to genotoxic treatments. (English)

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12 May 2018

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5

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author name string

Linda Mannini

1

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12 May 2018

Stefania Menga

2

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Alessandra Tonelli

3

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Silvia Zanotti

4

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Cinzia Magnani

6

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Antonio Musio

7

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language of work or name

English

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publication date

2 December 2011

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American Journal of Medical Genetics

published in

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volume

158A

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issue

1

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page(s)

224-228

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12 May 2018

Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers

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Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome.

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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

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

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Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome

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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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Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A.

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Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease

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Cohesin is required for higher-order chromatin conformation at the imprinted IGF2-H19 locus

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Cohesins functionally associate with CTCF on mammalian chromosome arms

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Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome

21 January 2018

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Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL

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

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CTCF physically links cohesin to chromatin

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Cohesins localize with CTCF at the KSHV latency control region and at cellular c-myc and H19/Igf2 insulators

21 January 2018

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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

21 January 2018

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

21 January 2018

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Cohesin mediates transcriptional insulation by CCCTC-binding factor

21 January 2018

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Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/AJMG.A.34384

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12 May 2018

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12 May 2018