SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome-Reference-Cited by-同舟云学术

SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome

Published:2019-02-05 Issue:6 Volume:27 Page:928-940
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Wormser Ohad^ORCID,Gradstein Libe,Yogev Yuval,Perez Yonatan,Kadir Rotem,Goliand Inna,Sadka Yair,El Riati Saad,Flusser Hagit,Nachmias Dikla,Birk Ruth,Iraqi Muhamad,Kadar Einat,Gat Roni,Drabkin Max,Halperin Daniel,Horev Amir,Sivan Sara,Abdu Uri,Elia Natalie,Birk Ohad S.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s41431-019-0347-z.pdf

Reference49 articles.

1. Reiter JF, Leroux MR. Genes and molecular pathways underpinning ciliopathies. Nat Rev Mol Cell Biol. 2017;18:533–47.

2. Plotnikova OVOV, ENEN Pugacheva. Golemis EAEA. Primary cilia and the cell cycle. Methods Cell Biol. 2009;94:137–60.

3. Waters AM, Beales PL. Ciliopathies: an expanding disease spectrum. Pediatr Nephrol. 2011;26:1039–56.

4. Zaghloul Na, Katsanis N. Science in medicine mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. J Clin Invest. 2009;119:428–37.

5. Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet. 1999;36:437–46.

Cited by 38 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

2. LZTFL1, a rare cause of Bardet–Biedl syndrome: A new patient with severe short stature and moderate intellectual disability, more than casual associations?;American Journal of Medical Genetics Part A;2024-05-27

3. Verbesserte Versorgungs-und Behandlungsoptionen für Patienten mit Hyperphagie-assoziierter Adipositas bei Bardet-Biedl-Syndrom;Klinische Pädiatrie;2024-03-08

4. A role of BPTF in viral oncogenicity delineated through studies of heritable Kaposi sarcoma;Journal of Medical Virology;2024-02

5. Bardet‐Biedl syndrome: A focus on genetics, mechanisms and metabolic dysfunction;Diabetes, Obesity and Metabolism;2024-02