Transcriptional dysregulation in NIPBL and cohesin mutant human cells (Q21563542)

4 September 2022

Takehiko Itoh

4

Takehiko

Itoh

1 reference

4 September 2022

Jinglan Liu

1

Jinglan

Liu

1 reference

4 September 2022

Zhe Zhang

2

Zhe

Zhang

1 reference

4 September 2022

Masashige Bando

3

Masashige

Bando

1 reference

4 September 2022

Matthew A Deardorff

5

Matthew A

Deardorff

1 reference

4 September 2022

Dinah Clark

6

Dinah

Clark

1 reference

4 September 2022

Maninder Kaur

7

Maninder

Kaur

1 reference

4 September 2022

Stephany Tandy

8

Stephany

Tandy

1 reference

4 September 2022

Tatsuro Kondoh

9

Tatsuro

Kondoh

1 reference

4 September 2022

Eric Rappaport

10

Eric

Rappaport

1 reference

4 September 2022

Nancy B Spinner

11

Nancy B

Spinner

1 reference

4 September 2022

Hugo Vega

12

Hugo

Vega

1 reference

4 September 2022

Laird G Jackson

13

Laird G

Jackson

1 reference

4 September 2022

Ian D Krantz

15

Ian D

Krantz

1 reference

Creative Commons Attribution 4.0 International

4 September 2022

language of work or name

English

0 references

publication date

5 May 2009

0 references

published in

PLOS Biology

0 references

volume

7

0 references

issue

5

0 references

page(s)

e1000119

0 references

copyright license

start time

26 May 2009

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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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

19 March 2017

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Kinetochore orientation during meiosis is controlled by Aurora B and the monopolin complex

19 March 2017

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PCNA controls establishment of sister chromatid cohesion during S phase

19 March 2017

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DNA damage response pathway uses histone modification to assemble a double-strand break-specific cohesin domain

19 March 2017

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19 March 2017

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CTCF is a uniquely versatile transcription regulator linked to epigenetics and disease

19 March 2017

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19 March 2017

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19 March 2017

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19 March 2017

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The complete removal of cohesin from chromosome arms depends on separase

12 September 2017

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12 September 2017

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12 September 2017

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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

12 September 2017

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12 September 2017

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12 September 2017

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12 September 2017

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

12 September 2017

1 reference

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At the heart of the chromosome: SMC proteins in action

12 September 2017

1 reference

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Imprinting defects on human chromosome 15.

12 September 2017

1 reference

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NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680332

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680332

How might cohesin hold sister chromatids together?

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680332

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680332

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680332

The c-myc insulator element and matrix attachment regions define the c-myc chromosomal domain

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680332

Human 3'‐phosphoadenosine 5'‐phosphosulfate (PAPS) Synthase: Biochemistry, Molecular Biology and Genetic Deficiency

12 September 2017

1 reference

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Targeting of cohesin by transcriptionally silent chromatin.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680332

Loss of ATRX leads to chromosome cohesion and congression defects

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680332

CTCF mediates interchromosomal colocalization between Igf2/H19 and Wsb1/Nf1.

30 May 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000119

Genome-scale mapping of DNase I sensitivity in vivo using tiling DNA microarrays.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000119

Expression profile of Papss2 (3'-phosphoadenosine 5'-phosphosulfate synthase 2) during cartilage formation and skeletal development in the mouse embryo.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000119

Cohesion between sister chromatids must be established during DNA replication

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000119

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000119

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000119

piggyBac-based mosaic screen identifies a postmitotic function for cohesin in regulating developmental axon pruning

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000119

Cohesin-dependent regulation of Runx genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000119

DNA binding sites for putative methylation boundaries in the unmethylated region of the BRCA1 promoter.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000119

Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome

21 January 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/19468298

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PBIO.1000119

1 reference

1 reference

1 reference

1 reference