Literature DB >> 11788826

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.

Heike Olbrich1, Karsten Häffner, Andreas Kispert, Alexander Völkel, Andreas Volz, Gürsel Sasmaz, Richard Reinhardt, Steffen Hennig, Hans Lehrach, Nikolaus Konietzko, Maimoona Zariwala, Peadar G Noone, Michael Knowles, Hannah M Mitchison, Maggie Meeks, Eddie M K Chung, Friedhelm Hildebrandt, Ralf Sudbrak, Heymut Omran.   

Abstract

Primary ciliary dyskinesia (PCD, MIM 242650) is characterized by recurrent infections of the respiratory tract due to reduced mucociliary clearance and by sperm immobility. Half of the affected offspring have situs inversus (reversed organs), which results from randomization of left-right (LR) asymmetry. We previously localized to chromosome 5p a PCD locus containing DNAH5, which encodes a protein highly similar to the Chlamydomonas gamma-dynein heavy chain. Here we characterize the full-length 14-kb transcript of DNAH5. Sequence analysis in individuals with PCD with randomization of LR asymmetry identified mutations resulting in non-functional DNAH5 proteins.

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Year:  2002        PMID： 11788826     DOI： 10.1038/ng817

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  186 in total

Review 1.  Tales of the tail and sperm head aches: changing concepts on the prognostic significance of sperm pathologies affecting the head, neck and tail.

Authors:  Héctor E Chemes; Cristian Alvarez Sedo
Journal:  Asian J Androl       Date:  2011-12-26       Impact factor: 3.285

Review 2.  Primary ciliary dyskinesia, an orphan disease.

Authors:  Mieke Boon; Mark Jorissen; Marijke Proesmans; Kris De Boeck
Journal:  Eur J Pediatr       Date:  2012-07-10       Impact factor: 3.183

Review 3.  Genetics and biology of primary ciliary dyskinesia.

Authors:  Amjad Horani; Thomas W Ferkol; Susan K Dutcher; Steven L Brody
Journal:  Paediatr Respir Rev       Date:  2015-09-11       Impact factor: 2.726

4.  Ciliary Feature Counter: A program for the Quantitative Assessment of Cilia to Diagnose Primary Ciliary Dyskinesia.

Authors:  Andreia L Pinto; Ranjit K Rai; Claire Hogg; Thomas Burgoyne
Journal:  Diagnostics (Basel)       Date:  2020-07-28

5.  Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex.

Authors:  Heike Olbrich; Carolin Cremers; Niki T Loges; Claudius Werner; Kim G Nielsen; June K Marthin; Maria Philipsen; Julia Wallmeier; Petra Pennekamp; Tabea Menchen; Christine Edelbusch; Gerard W Dougherty; Oliver Schwartz; Holger Thiele; Janine Altmüller; Frank Rommelmann; Heymut Omran
Journal:  Am J Hum Genet       Date:  2015-09-17       Impact factor: 11.025

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

Authors:  Inga M Höben; Rim Hjeij; Heike Olbrich; Gerard W Dougherty; Tabea Nöthe-Menchen; Isabella Aprea; Diana Frank; Petra Pennekamp; Bernd Dworniczak; Julia Wallmeier; Johanna Raidt; Kim G Nielsen; Maria C Philipsen; Francesca Santamaria; Laura Venditto; Israel Amirav; Huda Mussaffi; Freerk Prenzel; Kaman Wu; Zeineb Bakey; Miriam Schmidts; Niki T Loges; Heymut Omran
Journal:  Am J Hum Genet       Date:  2018-05-03       Impact factor: 11.025

7.  Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.

Authors:  Christina Austin-Tse; Jan Halbritter; Maimoona A Zariwala; Renée M Gilberti; Heon Yung Gee; Nathan Hellman; Narendra Pathak; Yan Liu; Jennifer R Panizzi; Ramila S Patel-King; Douglas Tritschler; Raqual Bower; Eileen O'Toole; Jonathan D Porath; Toby W Hurd; Moumita Chaki; Katrina A Diaz; Stefan Kohl; Svjetlana Lovric; Daw-Yang Hwang; Daniela A Braun; Markus Schueler; Rannar Airik; Edgar A Otto; Margaret W Leigh; Peadar G Noone; Johnny L Carson; Stephanie D Davis; Jessica E Pittman; Thomas W Ferkol; Jeffry J Atkinson; Kenneth N Olivier; Scott D Sagel; Sharon D Dell; Margaret Rosenfeld; Carlos E Milla; Niki T Loges; Heymut Omran; Mary E Porter; Stephen M King; Michael R Knowles; Iain A Drummond; Friedhelm Hildebrandt
Journal:  Am J Hum Genet       Date:  2013-10-03       Impact factor: 11.025

8.  DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm.

Authors:  Niki Tomas Loges; Heike Olbrich; Lale Fenske; Huda Mussaffi; Judit Horvath; Manfred Fliegauf; Heiner Kuhl; Gyorgy Baktai; Erzsebet Peterffy; Rahul Chodhari; Eddie M K Chung; Andrew Rutman; Christopher O'Callaghan; Hannah Blau; Laszlo Tiszlavicz; Katarzyna Voelkel; Michal Witt; Ewa Zietkiewicz; Juergen Neesen; Richard Reinhardt; Hannah M Mitchison; Heymut Omran
Journal:  Am J Hum Genet       Date:  2008-10-23       Impact factor: 11.025

9.  Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia.

Authors:  Manfred Fliegauf; Heike Olbrich; Judit Horvath; Johannes H Wildhaber; Maimoona A Zariwala; Marcus Kennedy; Michael R Knowles; Heymut Omran
Journal:  Am J Respir Crit Care Med       Date:  2005-03-04       Impact factor: 21.405

10.  Identification of the human CYS1 gene and candidate gene analysis in Boichis disease.

Authors:  Manfred Fliegauf; Christian Fröhlich; Judit Horvath; Heike Olbrich; Friedhelm Hildebrandt; Heymut Omran
Journal:  Pediatr Nephrol       Date:  2003-05-06       Impact factor: 3.714
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