Dosage effects of cohesin regulatory factor PDS5 on mammalian development: implications for cohesinopathies (Q28114837)

3 January 2017

title

Dosage effects of cohesin regulatory factor PDS5 on mammalian development: implications for cohesinopathies (English)

1 reference

PDS5 cohesin associated factor B

3 January 2017

main subject

1 reference

DNA binding

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Sister chromatid cohesion protein PDS5 homolog A

1 reference

PDS5 cohesin associated factor B

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author

Ezequiel Salavaggione

6

Ezequiel Salavaggione

0 references

Robert Heuckeroth

Robert O. Heuckeroth

15

0 references

Sanjay Jain

Sanjay Jain

7

0 references

Dale Dorsett

Dale Dorsett

12

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Jeffrey Milbrandt

Jeffrey Milbrandt

17

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author name string

Bin Zhang

1

1 reference

3 January 2017

Jufang Chang

2

1 reference

3 January 2017

Ming Fu

3

1 reference

3 January 2017

Jie Huang

4

1 reference

3 January 2017

Rakesh Kashyap

5

1 reference

3 January 2017

Ezequiel Salavaggione

6

1 reference

3 January 2017

Shashikant Kulkarni

8

1 reference

3 January 2017

Kulkarni Shashikant

9

1 reference

3 January 2017

Matthew A. Deardorff

10

1 reference

3 January 2017

Maria L. Giovannucci Uzielli

11

1 reference

3 January 2017

David C. Beebe

13

1 reference

3 January 2017

Patrick Y. Jay

14

1 reference

3 January 2017

Ian Krantz

16

1 reference

3 January 2017

language of work or name

English

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publication date

1 January 2009

1 reference

3 January 2017

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3 January 2017

volume

4

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3 January 2017

issue

5

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3 January 2017

page(s)

e5232

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Creative Commons Attribution 4.0 International

3 January 2017

copyright license

start time

1 May 2009

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Metazoan Scc4 homologs link sister chromatid cohesion to cell and axon migration guidance

1 reference

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Caspase proteolysis of the cohesin component RAD21 promotes apoptosis

20 March 2017

1 reference

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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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

Functional contribution of Pds5 to cohesin-mediated cohesion in human cells and Xenopus egg extracts

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

Wapl controls the dynamic association of cohesin with chromatin

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

de Lange syndrome: a clinical review of 310 individuals

20 March 2017

1 reference

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Establishment and maintenance of sister chromatid cohesion in fission yeast by a unique mechanism

20 March 2017

1 reference

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

The solution structure of an HMG-I(Y)-DNA complex defines a new architectural minor groove binding motif

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

Pds5p is an essential chromosomal protein required for both sister chromatid cohesion and condensation in Saccharomyces cerevisiae

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

Pds5 cooperates with cohesin in maintaining sister chromatid cohesion.

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

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

20 March 2017

1 reference

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The structure and function of SMC and kleisin complexes

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

SCC-112, a novel cell cycle-regulated molecule, exhibits reduced expression in human renal carcinomas

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

Maternal depletion of CTCF reveals multiple functions during oocyte and preimplantation embryo development

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

Germline transmission and tissue-specific expression of transgenes delivered by lentiviral vectors

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

Cohesins functionally associate with CTCF on mammalian chromosome arms

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

Cohesin mediates transcriptional insulation by CCCTC-binding factor

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

Cohesin and CTCF: cooperating to control chromosome conformation?

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

Association of cohesin and Nipped-B with transcriptionally active regions of the Drosophila melanogaster genome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

Natural history of aging in Cornelia de Lange syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

Model systems for the study of heart development and disease. Cardiac neural crest and conotruncal malformations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

Live-cell imaging reveals a stable cohesin-chromatin interaction after but not before DNA replication

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

Mice expressing a dominant-negative Ret mutation phenocopy human Hirschsprung disease and delineate a direct role of Ret in spermatogenesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

Caenorhabditis elegans EVL-14/PDS-5 and SCC-3 Are Essential for Sister Chromatid Cohesion in Meiosis and Mitosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

Identification of SATB2 as the cleft palate gene on 2q32-q33.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

Sperm from neonatal mammalian testes grafted in mice.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

Distant liaisons: long-range enhancer-promoter interactions in Drosophila.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

Multivalent DNA-binding properties of the HMG-1 proteins

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

The mixed lineage leukemia (MLL) protein involved in 11q23 translocations contains a domain that binds cruciform DNA and scaffold attachment region (SAR) DNA.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

Loss of ATRX leads to chromosome cohesion and congression defects

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

Autosomal dominant inheritance of Brachmann-de Lange syndrome

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672303

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

2 June 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0005232

Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0005232

mau-2 acts cell-autonomously to guide axonal migrations in Caenorhabditis elegans

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0005232

Cohesin-dependent regulation of Runx genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0005232

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.PONE.0005232

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.PONE.0005232

Cell-type-specific TEV protease cleavage reveals cohesin functions in Drosophila neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0005232

The cohesin ring concatenates sister DNA molecules

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0005232

THE CORNELIA DE LANGE SYNDROME.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0005232

DNA binding properties of TAF1 isoforms with two AT-hooks

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0005232

Preferential condensation of SAR-DNA by histone H1 and its SPKK containing octapeptide repeat motif.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0005232

Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0005232

Brachmann-de Lange syndrome: evidence for autosomal dominant inheritance

21 January 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/19412548

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Occurrence of congenital heart disease in children with Brachmann-de Lange syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/19412548

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0005232

0 references

0 references

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1 reference