Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B-Reference-Cited by-同舟云学术

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

Published:2004-05-16 Issue:6 Volume:36 Page:631-635
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Krantz Ian D,McCallum Jennifer,DeScipio Cheryl,Kaur Maninder,Gillis Lynette A,Yaeger Dinah,Jukofsky Lori,Wasserman Nora,Bottani Armand,Morris Colleen A,Nowaczyk Malgorzata J M,Toriello Helga,Bamshad Michael J,Carey John C,Rappaport Eric,Kawauchi Shimako,Lander Arthur D,Calof Anne L,Li Hui-hua,Devoto Marcella,Jackson Laird G

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng1364.pdf

Reference14 articles.

1. de Lange, C. Sur un type nouveau de dégénératio (typus Amstelodamensis). Arch. Méd. Enfants 36, 713–719 (1933).

2. Jackson, L., Kline, A.D., Barr, M.A. & Koch, S. de Lange syndrome: a clinical review of 310 individuals. Am. J. Med. Genet. 47, 940–946 (1993).

3. Ireland, M., Donnai, D. & Burn, J. Brachmann-de Lange syndrome. Delineation of the clinical phenotype. Am. J. Med. Genet. 47, 959–964 (1993).

4. Opitz, J.M. The Brachmann-de Lange syndrome. Am. J. Med. Genet. 22, 89–102 (1985).

5. Rollins, R.A., Morcillo, P. & Dorsett, D. Nipped-B, a Drosophila homologue of chromosomal adherins, participates in activation by remote enhancers in the cut and Ultrabithorax genes. Genetics 152, 577–593 (1999).

Cited by 584 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Fdo1, Fkh1, Fkh2, and the Swi6–Mbp1 MBF complex regulate Mcd1 levels to impact eco1 rad61 cell growth in Saccharomyces cerevisiae;GENETICS;2024-08-07

2. Cohesin composition and dosage independently affect early development in zebrafish;Development;2024-08-01

3. Cohesin — bridging the gap among gene transcription, genome stability, and human diseases;FEBS Letters;2024-06-09

4. A non-canonical role of the inner kinetochore in regulating sister-chromatid cohesion at centromeres;The EMBO Journal;2024-05-07

5. Advancing the Clinical and Molecular Understanding of Cornelia de Lange Syndrome: A Multidisciplinary Pediatric Case Series and Review of the Literature;Journal of Clinical Medicine;2024-04-21