Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms-Reference-Cited by-同舟云学术

Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms

Published:2018-05 Issue:5 Volume:102 Page:973-984
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Höben Inga M.,Hjeij Rim,Olbrich Heike,Dougherty Gerard W.,Nöthe-Menchen Tabea,Aprea Isabella,Frank Diana,Pennekamp Petra,Dworniczak Bernd,Wallmeier Julia,Raidt Johanna,Nielsen Kim G.,Philipsen Maria C.,Santamaria Francesca,Venditto Laura,Amirav Israel,Mussaffi Huda,Prenzel Freerk,Wu Kaman,Bakey Zeineb,Schmidts Miriam,Loges Niki T.,Omran Heymut

Funder

Ministry of Health in Israel

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference55 articles.

1. When cilia go bad: Cilia defects and ciliopathies;Fliegauf;Nat. Rev. Mol. Cell Biol.,2007

2. Studies on cilia. 3. Further studies on the cilium tip and a “sliding filament” model of ciliary motility;Satir;J. Cell Biol.,1968

3. Adenosine triphosphate-induced sliding of tubules in trypsin-treated flagella of sea-urchin sperm;Summers;Proc. Natl. Acad. Sci. USA,1971

4. The role of preassembled cytoplasmic complexes in assembly of flagellar dynein subunits;Fowkes;Mol. Biol. Cell,1998

5. Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia;Fliegauf;Am. J. Respir. Crit. Care Med.,2005

Cited by 59 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. A novel homozygous mutation of CFAP300 identified in a Chinese patient with primary ciliary dyskinesia and infertility;Asian Journal of Andrology;2024-09-10

2. Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis;Orphanet Journal of Rare Diseases;2024-08-23

3. A novel homozygous missense TTC12 variant identified in an infertile Pakistani man with severe oligoasthenoteratozoospermia and primary ciliary dyskinesia;Molecular Genetics and Genomics;2024-07-12

4. Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype–phenotype correlations;European Respiratory Journal;2024-06-13

5. Mutations in CFAP47, a previously reported MMAF causative gene, also contribute to the respiratory defects in patients with PCD;Molecular Genetics & Genomic Medicine;2023-09-18