(Q34574663)

3 August 2017

0 references

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

1 reference

Cornelia de Lange syndrome

3 August 2017

main subject

1 reference

Feliciano J Ramos

14

0 references

Antonio Musio

Antonio Musio

15

0 references

Sergey Korolev

Sergey Korolev

5

0 references

Dale Dorsett

Dale Dorsett

17

0 references

Bart L Loeys

Bart Loeys

9

0 references

author name string

Matthew A Deardorff

1

1 reference

3 August 2017

Maninder Kaur

2

1 reference

3 August 2017

Dinah Yaeger

3

1 reference

3 August 2017

Abhinav Rampuria

4

1 reference

3 August 2017

Juan Pie

6

1 reference

3 August 2017

Concepcion Gil-Rodríguez

7

1 reference

3 August 2017

María Arnedo

8

1 reference

3 August 2017

Antonie D Kline

10

1 reference

3 August 2017

Meredith Wilson

11

1 reference

3 August 2017

Kaj Lillquist

12

1 reference

3 August 2017

Victoria Siu

13

1 reference

3 August 2017

Laird S Jackson

16

1 reference

3 August 2017

Ian D Krantz

18

1 reference

3 August 2017

language of work or name

English

0 references

publication date

17 January 2007

1 reference

3 August 2017

number of pages

10

1 reference

American Journal of Human Genetics

inferred from page(s)

published in

1 reference

3 August 2017

volume

80

1 reference

3 August 2017

issue

3

1 reference

3 August 2017

page(s)

485-494

1 reference

At the heart of the chromosome: SMC proteins in action

3 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821101

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821101

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821101

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821101

The structure and function of SMC and kleisin complexes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821101

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821101

Structure and stability of cohesin's Smc1-kleisin interaction

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821101

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821101

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821101

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821101

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821101

Molecular architecture of SMC proteins and the yeast cohesin complex

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821101

The ABCs of SMC proteins: two-armed ATPases for chromosome condensation, cohesion, and repair

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821101

Condensin and cohesin display different arm conformations with characteristic hinge angles

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821101

CDC growth charts: United States

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821101

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821101

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821101

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821101

de Lange syndrome: a clinical review of 310 individuals

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821101

The DXS423E gene in Xp11.21 escapes X chromosome inactivation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821101

Predicting coiled coils from protein sequences

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821101

Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821101

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821101

ATP hydrolysis is required for cohesin's association with chromosomes

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821101

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821101

Brachmann-de Lange syndrome: diagnostic difficulties posed by the mild phenotype.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821101

Multiple alignment using hidden Markov models

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821101

Growth manifestations in the Brachmann-de Lange syndrome

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17273969

12 December 2020

inferred from PubMed ID database lookup

Clinical variability within Brachmann-de Lange syndrome: a proposed classification system

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17273969

12 December 2020

inferred from PubMed ID database lookup

Brachmann-de Lange syndrome. Delineation of the clinical phenotype

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17273969

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1086/511888

1 reference

3 August 2017

1 reference

3 August 2017

1 reference