DYX1C1 is required for axonemal dynein assembly and ciliary motility

被引：0

作者：

Aarti Tarkar

Niki T Loges

Christopher E Slagle

Richard Francis

Gerard W Dougherty

Joel V Tamayo

Brett Shook

Marie Cantino

Daniel Schwartz

Charlotte Jahnke

Heike Olbrich

Claudius Werner

Johanna Raidt

Petra Pennekamp

Marouan Abouhamed

Rim Hjeij

Gabriele Köhler

Matthias Griese

You Li

Kristi Lemke

Nikolas Klena

Xiaoqin Liu

George Gabriel

Kimimasa Tobita

Martine Jaspers

Lucy C Morgan

Adam J Shapiro

Stef J F Letteboer

Dorus A Mans

Johnny L Carson

Margaret W Leigh

Whitney E Wolf

Serafine Chen

Jane S Lucas

Alexandros Onoufriadis

Vincent Plagnol

Miriam Schmidts

Karsten Boldt

Ronald Roepman

Maimoona A Zariwala

Cecilia W Lo

Hannah M Mitchison

Michael R Knowles

Rebecca D Burdine

Joseph J LoTurco

Heymut Omran

机构：

[1] University of Connecticut,Department of Physiology and Neurobiology

[2] University Hospital Münster,Department of Pediatrics

[3] Princeton University,Department of Molecular Biology

[4] University of Pittsburgh School of Medicine,Department of Developmental Biology

[5] University Hospital Münster,Department of Pathology

[6] Dr. von Hauner Children's Hospital,Department of Pediatrics

[7] Ludwig-Maximilians University,Department of Otorhinolaryngology

[8] University Hospital Leuven,Department of Respiratory Medicine

[9] Concord Hospital,Department of Pediatrics

[10] University of North Carolina (UNC) School of Medicine,Department of Human Genetics

[11] Radboud University Medical Centre,Department of Medicine

[12] Nijmegen Centre for Molecular Life Sciences,Division of Experimental Ophthalmology and Medical Proteome Center

[13] Radboud University Medical Centre,Department of Pathology & Laboratory Medicine

[14] UNC School of Medicine,undefined

[15] Primary Ciliary Dyskinesia Centre,undefined

[16] National Institute for Health Research (NIHR) Southampton Respiratory Biomedical Research Unit,undefined

[17] University of Southampton and University Hospital Southampton National Health Service (NHS) Foundation Trust,undefined

[18] Molecular Medicine Unit,undefined

[19] Institute of Child Health,undefined

[20] University College London,undefined

[21] Genetics Institute,undefined

[22] University College London,undefined

[23] Institute for Ophthalmic Research,undefined

[24] University of Tübingen,undefined

[25] Institute for Genetic and Metabolic Disease,undefined

[26] Radboud University Medical Centre,undefined

[27] UNC School of Medicine,undefined

来源：

Nature Genetics | 2013年 / 45卷

关键词：

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中图分类号：

学科分类号：

摘要：

Heymut Omran, Joseph LoTurco and colleagues show that mutations in the dyslexia susceptibility candidate gene DYX1C1 cause primary ciliary dyskinesia. Their functional studies suggest that DYX1C1 is required for the cytoplasmic preassembly of axonemal dynein complexes.

引用

页码：995 / 1003

页数：8

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