(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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12 May 2018

Alessandra Tonelli

3

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12 May 2018

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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12 May 2018

American Journal of Medical Genetics

published in

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12 May 2018

volume

158A

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issue

1

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12 May 2018

page(s)

224-228

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12 May 2018

Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34384

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.34384

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34384

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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https://api.crossref.org/works/10.1002%2FAJMG.A.34384

Cohesin: genomic insights into controlling gene transcription and development

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.34384

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.34384

Mediator and cohesin connect gene expression and chromatin architecture

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.34384

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.34384

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34384

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34384

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34384

Transcriptional dysregulation in NIPBL and cohesin mutant human cells

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.34384

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.34384

The expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancer.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.34384

The dark side of cohesin: the carcinogenic point of view

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.34384

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.34384

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34384

Cohesins functionally associate with CTCF on mammalian chromosome arms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34384

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34384

Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.34384

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.34384

Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34384

CTCF physically links cohesin to chromatin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34384

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34384

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34384

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34384

Cohesin mediates transcriptional insulation by CCCTC-binding factor

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.34384

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34384

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.34384

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12 May 2018

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12 May 2018