NovelPOC1Amutation in primordial dwarfism reveals new insights for centriole biogenesis-Reference-Cited by-同舟云学术

NovelPOC1Amutation in primordial dwarfism reveals new insights for centriole biogenesis

Published:2015-07-10 Issue:19 Volume:24 Page:5378-5387
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Hum. Mol. Genet.

Author:

Koparir Asuman,Karatas Omer F.,Yuceturk Betul,Yuksel Bayram,Bayrak Ali O.,Gerdan Omer F.,Sagiroglu Mahmut S.,Gezdirici Alper,Kirimtay Koray,Selcuk Ece,Karabay Arzu,Creighton Chad J.,Yuksel Adnan,Ozen Mustafa

Funder

Republic of Turkey Ministry of Development Infrastructure

BILGEM—TUBITAK

Scientific and Technological Research Council of Turkey

Publisher

Oxford University Press (OUP)

Subject

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

Link

http://academic.oup.com/hmg/article-pdf/24/19/5378/13931328/ddv261.pdf

Reference27 articles.

1. A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families

2. Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling

3. Novel CENPJ mutation causes Seckel syndrome

4. CEP152 is a genome maintenance protein disrupted in Seckel syndrome

5. Katanin, a Microtubule-Severing Protein, Is a Novel AAA ATPase that Targets to the Centrosome Using a WD40-Containing Subunit

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