Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia-Reference-Cited by-同舟云学术

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Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia

Published:2020-08-07 Issue:8 Volume:16 Page:e1008691
ISSN:1553-7404
Container-title:PLOS Genetics
language:en
Short-container-title:PLoS Genet

Author:

Bustamante-Marin Ximena M.^ORCID,Horani Amjad^ORCID,Stoyanova Mihaela^ORCID,Charng Wu-Lin^ORCID,Bottier Mathieu^ORCID,Sears Patrick R.^ORCID,Yin Wei-Ning,Daniels Leigh Anne^ORCID,Bowen Hailey^ORCID,Conrad Donald F.^ORCID,Knowles Michael R.^ORCID,Ostrowski Lawrence E.,Zariwala Maimoona A.,Dutcher Susan K.^ORCID

Funder

National Heart, Lung, and Blood Institute

National Center for Advancing Translational Sciences

American Thoracic Society

National Institute of Child Health and Human Development

National Institute of Mental Health

National Human Genome Research Institute

National Institutes of Health

Publisher

Public Library of Science (PLoS)

Subject

Cancer Research,Genetics (clinical),Genetics,Molecular Biology,Ecology, Evolution, Behavior and Systematics

Reference109 articles.

1. Ciliopathies: the central role of cilia in a spectrum of pediatric disorders;TW Ferkol;The Journal of pediatrics,2012

2. Genetics and biology of primary ciliary dyskinesia;A Horani;Paediatr Respir Rev,2016

3. X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3;C Olcese;Nature communications,2017

4. De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry;J Wallmeier;American journal of human genetics,2019

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1. Transcriptional analysis of primary ciliary dyskinesia airway cells reveals a dedicated cilia glutathione pathway;JCI Insight;2024-07-23

2. The MBO2/FAP58 heterodimer stabilizes assembly of inner arm dynein b and reveals axoneme asymmetries involved in ciliary waveform;Molecular Biology of the Cell;2024-05-01

3. Loss of an extensive ciliary connectome induces proteostasis and cell fate switching in a severe motile ciliopathy;2024-03-21

4. Gene dosage of independent dynein arm motor preassembly factors influences cilia assembly in Chlamydomonas reinhardtii;PLOS Genetics;2024-03-18

5. PSAP-genomic-regions: a method leveraging population data to prioritize coding and non-coding variants in whole genome sequencing for rare disease diagnosis;2024-02-13

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