Proteomic Profile Identifies Dysregulated Pathways in Cornelia de Lange Syndrome Cells with Distinct Mutations in SMC1A and SMC3 Genes-Reference-Cited by-同舟云学术

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Proteomic Profile Identifies Dysregulated Pathways in Cornelia de Lange Syndrome Cells with Distinct Mutations in SMC1A and SMC3 Genes

Published:2012-11-05 Issue:12 Volume:11 Page:6111-6123
ISSN:1535-3893
Container-title:Journal of Proteome Research
language:en
Short-container-title:J. Proteome Res.

Author:

Gimigliano Anna¹,Mannini Linda²,Bianchi Laura¹,Puglia Michele¹,Deardorff Matthew A.³,Menga Stefania²,Krantz Ian D.³,Musio Antonio²,Bini Luca¹

Affiliation:

1. Functional Proteomics Laboratory, Department of Biotechnologies, University of Siena, Siena, Italy

2. Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Pisa, Italy

3. Division of Human Genetics, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, United States

Publisher

American Chemical Society (ACS)

Subject

General Chemistry,Biochemistry

Link

https://pubs.acs.org/doi/pdf/10.1021/pr300760p

Reference72 articles.

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

2. Cohesin: Its Roles and Mechanisms

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

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

5. NIPBL Mutational Analysis in 120 Individuals with Cornelia de Lange Syndrome and Evaluation of Genotype-Phenotype Correlations

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