(Q36459159)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23106691%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

title

Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23106691%20AND%20SRC:MED&resulttype=core&format=json

Cornelia de Lange syndrome

16 February 2020

main subject

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23106691%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Antonio Musio

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23106691%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Luca Bini

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23106691%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

author name string

Anna Gimigliano

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23106691%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Linda Mannini

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23106691%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Michele Puglia

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23106691%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Matthew A Deardorff

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23106691%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Stefania Menga

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23106691%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Ian D Krantz

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23106691%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

publication date

5 November 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23106691%20AND%20SRC:MED&resulttype=core&format=json

Journal of Proteome Research

16 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23106691%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

volume

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23106691%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23106691%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

page(s)

6111-6123

1 reference

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describes a project that uses

16 February 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3519430/fullTextXML

inferred from PubMed Central ID database lookup

cites work

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

1 reference

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RAD21 mutations cause a human cohesinopathy

30 September 2017

1 reference

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The dark side of cohesin: the carcinogenic point of view

30 September 2017

1 reference

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Multifactorial origins of heart and gut defects in nipbl-deficient zebrafish, a model of Cornelia de Lange Syndrome

30 September 2017

1 reference

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Cohesin: a catenase with separate entry and exit gates?

30 September 2017

1 reference

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Proteomic analysis identifies differentially expressed proteins after HDAC vorinostat and EGFR inhibitor gefitinib treatments in Hep-2 cancer cells.

30 September 2017

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The JAK2/STAT3 signaling pathway is required for growth of CD44⁺CD24⁻ stem cell-like breast cancer cells in human tumors

30 September 2017

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Cohesin: genomic insights into controlling gene transcription and development

30 September 2017

1 reference

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A direct role for cohesin in gene regulation and ecdysone response in Drosophila salivary glands

30 September 2017

1 reference

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Mediator and cohesin connect gene expression and chromatin architecture

30 September 2017

1 reference

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An "Omics" based survey of human colon cancer

30 September 2017

1 reference

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Positive regulation of c-Myc by cohesin is direct, and evolutionarily conserved

30 September 2017

1 reference

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"Topological significance" analysis of gene expression and proteomic profiles from prostate cancer cells reveals key mechanisms of androgen response

30 September 2017

1 reference

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The expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancer.

30 September 2017

1 reference

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CTCF shapes chromatin by multiple mechanisms: the impact of 20 years of CTCF research on understanding the workings of chromatin

30 September 2017

1 reference

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Cell type specificity of chromatin organization mediated by CTCF and cohesin.

30 September 2017

1 reference

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Cohesin is required for higher-order chromatin conformation at the imprinted IGF2-H19 locus

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

Gene regulation and epigenetic remodeling in murine embryonic stem cells by c-Myc

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

Cohesin: its roles and mechanisms

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

The cohesin complex is required for the DNA damage-induced G2/M checkpoint in mammalian cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

Functional analysis of OMICs data and small molecule compounds in an integrated "knowledge-based" platform

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

Regulation of the Drosophila Enhancer of split and invected-engrailed gene complexes by sister chromatid cohesion proteins

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

Transcriptional dysregulation in NIPBL and cohesin mutant human cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

Cohesins form chromosomal cis-interactions at the developmentally regulated IFNG locus

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

Architectural roles of multiple chromatin insulators at the human apolipoprotein gene cluster

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

How cohesin and CTCF cooperate in regulating gene expression

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

Cohesin and human disease

30 September 2017

1 reference

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CTCF physically links cohesin to chromatin

30 September 2017

1 reference

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Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers

30 September 2017

1 reference

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Cohesins functionally associate with CTCF on mammalian chromosome arms

30 September 2017

1 reference

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Cohesin mediates transcriptional insulation by CCCTC-binding factor

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

Cohesins localize with CTCF at the KSHV latency control region and at cellular c-myc and H19/Igf2 insulators

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

Natural history of aging in Cornelia de Lange syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

SMC1 involvement in fragile site expression.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

Structure and stability of cohesin's Smc1-kleisin interaction

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

Inhibition of BUB1 results in genomic instability and anchorage-independent growth of normal human fibroblasts

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

Molecular architecture of SMC proteins and the yeast cohesin complex

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

Validation and development of fluorescence two-dimensional differential gel electrophoresis proteomics technology

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

Cn3D: sequence and structure views for Entrez

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

A comparison of selected mRNA and protein abundances in human liver

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

The focusing positions of polypeptides in immobilized pH gradients can be predicted from their amino acid sequences

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

Novel promoter upstream of the human c-myc gene and regulation of c-myc expression in B-cell lymphomas

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

A non-AUG translational initiation in c-myc exon 1 generates an N-terminally distinct protein whose synthesis is disrupted in Burkitt's lymphomas

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

The first exon of the c-myc proto-oncogene contains a novel positive control element.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

Improvement of the solubilization of proteins in two-dimensional electrophoresis with immobilized pH gradients

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

SMC1A codon 496 mutations affect the cellular response to genotoxic treatments.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

Protein identification using TurboSEQUEST.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3519430

Solubilization methods and reference 2-DE map of cow milk fat globules

21 September 2018

1 reference

12 December 2020

Differential response to intracellular stress in the skin from osteogenesis imperfecta Brtl mice with lethal and non lethal phenotype: A proteomic approach

1 reference

12 December 2020

Global approaches to quantitative analysis of gene-expression patterns observed by use of two-dimensional gel electrophoresis

1 reference

12 December 2020

A block to elongation is largely responsible for decreased transcription of c-myc in differentiated HL60 cells

1 reference

12 December 2020

Approach to stationary two-dimensional pattern: influence of focusing time and immobiline/carrier ampholytes concentrations

1 reference

12 December 2020

Experimental and Statistical Considerations to Avoid False Conclusions in Proteomics Studies Using Differential In-gel Electrophoresis

1 reference

12 December 2020

One-dimensional SDS gel electrophoresis of proteins

1 reference

12 December 2020

Identifiers

DOI

10.1021/PR300760P

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23106691%20AND%20SRC:MED&resulttype=core&format=json

release_7wgo6pmofbaazcxqz7daad2uoe

16 February 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/7wgo6pmofbaazcxqz7daad2uoe

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23106691%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

PubMed publication ID

23106691

1 reference