Literature DB >> 20513915

New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure.

M Pifferi, A Michelucci, M E Conidi, A M Cangiotti, P Simi, P Macchia, A L Boner.   

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Year:  2010        PMID： 20513915     DOI： 10.1183/09031936.00186209

Source DB:  PubMed          Journal:  Eur Respir J        ISSN： 0903-1936            Impact factor:   16.671


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  24 in total

Review 1.  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 2.  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

3.  DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes.

Authors:  Gerard W Dougherty; Niki T Loges; Judith A Klinkenbusch; Heike Olbrich; Petra Pennekamp; Tabea Menchen; Johanna Raidt; Julia Wallmeier; Claudius Werner; Cordula Westermann; Christian Ruckert; Virginia Mirra; Rim Hjeij; Yasin Memari; Richard Durbin; Anja Kolb-Kokocinski; Kavita Praveen; Mohammad A Kashef; Sara Kashef; Fardin Eghtedari; Karsten Häffner; Pekka Valmari; György Baktai; Micha Aviram; Lea Bentur; Israel Amirav; Erica E Davis; Nicholas Katsanis; Martina Brueckner; Artem Shaposhnykov; Gaia Pigino; Bernd Dworniczak; Heymut Omran
Journal:  Am J Respir Cell Mol Biol       Date:  2016-08       Impact factor: 6.914

Review 4.  Gene mutations in primary ciliary dyskinesia related to otitis media.

Authors:  Manuel Mata; Lara Milian; Miguel Armengot; Carmen Carda
Journal:  Curr Allergy Asthma Rep       Date:  2014-03       Impact factor: 4.806

5.  Primary Ciliary Dyskinesia (PCD): A genetic disorder of motile cilia.

Authors:  Margaret W Leigh; Amjad Horani; BreAnna Kinghorn; Michael G O'Connor; Maimoona A Zariwala; Michael R Knowles
Journal:  Transl Sci Rare Dis       Date:  2019-07-04

6.  Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure.

Authors:  Michael R Knowles; Margaret W Leigh; Johnny L Carson; Stephanie D Davis; Sharon D Dell; Thomas W Ferkol; Kenneth N Olivier; Scott D Sagel; Margaret Rosenfeld; Kimberlie A Burns; Susan L Minnix; Michael C Armstrong; Adriana Lori; Milan J Hazucha; Niki T Loges; Heike Olbrich; Anita Becker-Heck; Miriam Schmidts; Claudius Werner; Heymut Omran; Maimoona A Zariwala
Journal:  Thorax       Date:  2011-12-18       Impact factor: 9.139

7.  Loss of SPEF2 function in mice results in spermatogenesis defects and primary ciliary dyskinesia.

Authors:  Anu Sironen; Noora Kotaja; Howard Mulhern; Todd A Wyatt; Joseph H Sisson; Jacqueline A Pavlik; Mari Miiluniemi; Mark D Fleming; Lance Lee
Journal:  Biol Reprod       Date:  2011-06-29       Impact factor: 4.285

Review 8.  Primary ciliary dyskinesia and associated sensory ciliopathies.

Authors:  Amjad Horani; Thomas W Ferkol
Journal:  Expert Rev Respir Med       Date:  2016-03-28       Impact factor: 3.772

Review 9.  Recent Developments in mRNA-Based Protein Supplementation Therapy to Target Lung Diseases.

Authors:  Itishri Sahu; A K M Ashiqul Haque; Brian Weidensee; Petra Weinmann; Michael S D Kormann
Journal:  Mol Ther       Date:  2019-03-06       Impact factor: 11.454

10.  Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms.

Authors:  Ozanna Burnicka-Turek; Jeffrey D Steimle; Wenhui Huang; Lindsay Felker; Anna Kamp; Junghun Kweon; Michael Peterson; Roger H Reeves; Cheryl L Maslen; Peter J Gruber; Xinan H Yang; Jay Shendure; Ivan P Moskowitz
Journal:  Hum Mol Genet       Date:  2016-06-23       Impact factor: 6.150
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