The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity (Q34769846)

4 August 2017

title

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity (English)

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4 August 2017

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7

Hülya Kayserili

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Flemming Skovby

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Ricardo Miguel Luque Bernal

Flemming Skovby

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Ricardo Luque

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Ethylin Wang Jabs

Ethylin Wang Jabs

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Raoul Hennekam

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Raoul C M Hennekam

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Francesca Forzano

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Miriam Gordillo

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Hugo Vega

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Alison H Trainer

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Fajian Hou

4

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Norio Sakai

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Seher Basaran

8

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Maria L Giovannucci Uzielli

11

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Rhonda E Schnur

12

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Sylvie Manouvrier

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Susan Chang

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Edward Blair

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Jane A Hurst

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Moritz Meins

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Kalle O J Simola

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Annick Raas-Rothschild

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Roger A Schultz

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Lisa D McDaniel

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Keiichi Ozono

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Koji Inui

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Hui Zou

25

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4 August 2017

language of work or name

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14 April 2008

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4 August 2017

published in

Human Molecular Genetics

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4 August 2017

volume

17

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4 August 2017

issue

14

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4 August 2017

page(s)

2172-2180

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

4 August 2017

cites work

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https://api.crossref.org/works/10.1093%2FHMG%2FDDN116

SC phocomelia syndrome, premature centromere separation, and congenital cranial nerve paralysis in two sisters, one with malignant melanoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN116

Rhabdomyosarcoma in Roberts syndrome

21 January 2018

1 reference

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History of C-patient with SC-Roberts/pseudothalidamide syndrome

21 January 2018

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Cytogenetic findings in Roberts-SC phocomelia syndrome(s)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN116

Studies of mitotic and centromeric abnormalities in Roberts syndrome: Implications for a defect in the mitotic mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN116

Hypersensitivity to mitomycin C cell-killing in Roberts syndrome fibroblasts with, but not without, the heterochromatin abnormality

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN116

Sensitivity of Roberts syndrome cells to gamma radiation, mitomycin C, and protein synthesis inhibitors

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDN116

A direct link between sister chromatid cohesion and chromosome condensation revealed through the analysis of MCD1 in S. cerevisiae

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDN116

Cohesins: chromosomal proteins that prevent premature separation of sister chromatids

21 January 2018

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Identification of Xenopus SMC protein complexes required for sister chromatid cohesion

21 January 2018

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Characterization of vertebrate cohesin complexes and their regulation in prophase

21 January 2018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN116

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN116

Eco1 is a novel acetyltransferase that can acetylate proteins involved in cohesion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN116

DNA double-strand breaks trigger genome-wide sister-chromatid cohesion through Eco1 (Ctf7).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN116

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN116

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN116

A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN116

Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN116

Fission yeast Eso1p is required for establishing sister chromatid cohesion during S phase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN116

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN116

Human EFO1p exhibits acetyltransferase activity and is a unique combination of linker histone and Ctf7p/Eco1p chromatid cohesion establishment domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN116

Two human orthologues of Eco1/Ctf7 acetyltransferases are both required for proper sister-chromatid cohesion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN116

Listening to silence and understanding nonsense: exonic mutations that affect splicing

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDN116

Regulatory cross-talk between lysine acetylation and ubiquitination: role in the control of protein stability

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN116

The balance between acetylation and deacetylation controls Smad7 stability.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN116

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN116

Roles of the sister chromatid cohesion apparatus in gene expression, development, and human syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN116

The boundaries of the silenced HMR domain in Saccharomyces cerevisiae

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN116

Cell-cycle control of the establishment of mating-type silencing in S. cerevisiae

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN116

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN116

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN116

A new mathematical model for relative quantification in real-time RT-PCR

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN116

New Giemsa method for the differential staining of sister chromatids

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN116

Factors involved in differential Giemsa-staining of sister chromatids

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN116

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN116

21 January 2018

Identifiers

DOI

10.1093/HMG/DDN116

1 reference

4 August 2017

1 reference