Antioxidant treatment ameliorates phenotypic features of SMC1A-mutated Cornelia de Lange syndrome in vitro and in vivo-Reference-Cited by-同舟云学术

Antioxidant treatment ameliorates phenotypic features of SMC1A-mutated Cornelia de Lange syndrome in vitro and in vivo

Published:2018-05-30 Issue:17 Volume:27 Page:3002-3011
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Cukrov Dubravka¹,Newman Trent A C²,Leask Megan²,Leeke Bryony²,Sarogni Patrizia¹,Patimo Alessandra¹,Kline Antonie D³,Krantz Ian D⁴,Horsfield Julia A²⁵,Musio Antonio¹

Affiliation:

1. Institute for Genetic and Biomedical Research, National Research Council, Pisa, Italy

2. Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand

3. Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA

4. Division of Human Genetics, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA

5. The Maurice Wilkins Centre for Molecular Biodiscovery, c/o The University of Auckland, Private Bag, Auckland, New Zealand

Funder

Fondazione Pisa

Otago Medical Research Foundation

The Maurice Wilkins Centre for Molecular Biodiscovery

Health Research Council of New Zealand

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/27/17/3002/25505578/ddy203.pdf

Reference62 articles.

1. Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance;Kline;Am. J. Med. Genet. A,2007

2. Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome;Mannini;Hum. Mutat,2013

3. Natural history of aging in Cornelia de Lange syndrome. Am;Kline;J. Med. Genet. C Semin. Med. Genet,2007

4. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B;Krantz;Nat. Genet,2004

5. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations;Musio;Nat. Genet,2006

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