(Q37440953)

20 August 2017

SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome (English)

1 reference

Cornelia de Lange syndrome

20 August 2017

1 reference

Jinglan Liu

1

1 reference

20 August 2017

Rachel Feldman

2

1 reference

20 August 2017

Zhe Zhang

3

1 reference

20 August 2017

Matthew A Deardorff

4

1 reference

20 August 2017

Eden V Haverfield

5

1 reference

20 August 2017

Maninder Kaur

6

1 reference

20 August 2017

Jennifer R Li

7

1 reference

20 August 2017

Dinah Clark

8

1 reference

20 August 2017

Antonie D Kline

9

1 reference

20 August 2017

Darrel J Waggoner

10

1 reference

20 August 2017

Soma Das

11

1 reference

20 August 2017

Laird G Jackson

12

1 reference

20 August 2017

Ian D Krantz

13

1 reference

20 August 2017

1 November 2009

1 reference

20 August 2017

1 reference

20 August 2017

30

1 reference

20 August 2017

1535-1542

1 reference

20 August 2017

11

1 reference

Transcriptional dysregulation in NIPBL and cohesin mutant human cells

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783874

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783874

Cohesinopathies: One ring, many obligations.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783874

Cohesin mediates transcriptional insulation by CCCTC-binding factor

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783874

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783874

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783874

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783874

At the heart of the chromosome: SMC proteins in action

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783874

How might cohesin hold sister chromatids together?

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783874

X-inactivation profile reveals extensive variability in X-linked gene expression in females

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783874

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783874

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783874

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783874

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783874

Nipped-B, a Drosophila homologue of chromosomal adherins, participates in activation by remote enhancers in the cut and Ultrabithorax genes.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783874

Identification of Xenopus SMC protein complexes required for sister chromatid cohesion

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783874

The mouse Sb1.8 gene located at the distal end of the X chromosome is subject to X inactivation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783874

The DXS423E gene in Xp11.21 escapes X chromosome inactivation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783874

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783874

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783874

Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783874

Mice lacking sister chromatid cohesion protein PDS5B exhibit developmental abnormalities reminiscent of Cornelia de Lange syndrome.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783874

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783874

Cohesion between sister chromatids must be established during DNA replication

2 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19701948

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Chromosomal domains and escape from X inactivation: comparative X inactivation analysis in mouse and human

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19701948

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.21095

1 reference

20 August 2017

1 reference

20 August 2017

1 reference