Literature DB >> 12775878

Genotype-phenotype correlations in PCD patients carrying DNAH5 mutations.

A Kispert, M Petry, H Olbrich, A Volz, U-P Ketelsen, J Horvath, R Melkaoui, H Omran, M Zariwala, P G Noone, M Knowles.   

Abstract

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Year:  2003        PMID： 12775878      PMCID： PMC1746706          DOI： 10.1136/thorax.58.6.552-b

Source DB:  PubMed          Journal:  Thorax        ISSN： 0040-6376            Impact factor:   9.139


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  10 in total

1.  DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.

Authors:  Nada Hornef; Heike Olbrich; Judit Horvath; Maimoona A Zariwala; Manfred Fliegauf; Niki Tomas Loges; Johannes Wildhaber; Peadar G Noone; Marcus Kennedy; Stylianos E Antonarakis; Jean-Louis Blouin; Lucia Bartoloni; Thomas Nüsslein; Peter Ahrens; Matthias Griese; Heiner Kuhl; Ralf Sudbrak; Michael R Knowles; Richard Reinhardt; Heymut Omran
Journal:  Am J Respir Crit Care Med       Date:  2006-04-20       Impact factor: 21.405

2.  Biallelic Variants in CCDC39 Gene Lead to Primary Ciliary Dyskinesia and Kartagener Syndrome.

Authors:  Xiao Shi; Hao Geng; Hui Yu; Xiaolong Hu; Guanxiong Wang; Jin Yang; Hui Zhao
Journal:  Biomed Res Int       Date:  2022-06-26       Impact factor: 3.246

3.  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

Review 4.  Primary ciliary dyskinesia: recent advances in pathogenesis, diagnosis and treatment.

Authors:  Hauw Lie; Thomas Ferkol
Journal:  Drugs       Date:  2007       Impact factor: 9.546

5.  A novel mutation of the axonemal dynein heavy chain gene 5 (DNAH5) in a Japanese neonate with asplenia syndrome.

Authors:  Genshu Tate; Takuma Tajiri; Koji Kishimoto; Toshiyuki Mitsuya
Journal:  Med Mol Morphol       Date:  2014-06-10       Impact factor: 2.309

6.  Whole-exome sequencing reveals a combination of extremely rare single-nucleotide polymorphism of DNAH9 and RSPH1 genes in a Japanese fetus with situs viscerum inversus.

Authors:  Genshu Tate
Journal:  Med Mol Morphol       Date:  2021-05-18       Impact factor: 2.309

Review 7.  Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.

Authors:  Kavita Praveen; Erica E Davis; Nicholas Katsanis
Journal:  F1000Prime Rep       Date:  2015-03-10

8.  Proceedings of the COST action BM1407 inaugural conference BEAT-PCD: translational research in primary ciliary dyskinesia - bench, bedside, and population perspectives.

Authors:  Bruna Rubbo; Laura Behan; Eleonora Dehlink; Myrofora Goutaki; Claire Hogg; Panayiotis Kouis; Claudia E Kuehni; Philipp Latzin; Kim Nielsen; Dominic Norris; Sylvia Nyilas; Mareike Price; Jane S Lucas
Journal:  BMC Proc       Date:  2016-11-29

9.  Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype.

Authors:  Lawrence E Ostrowski; Weining Yin; Amanda J Smith; Patrick R Sears; Ximena M Bustamante-Marin; Hong Dang; Friedhelm Hildebrandt; Leigh Anne Daniels; Nicole A Capps; Kelli M Sullivan; Margaret W Leigh; Maimoona A Zariwala; Michael R Knowles
Journal:  Int J Mol Sci       Date:  2022-02-03       Impact factor: 6.208

10.  Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.

Authors:  Dinu Antony; Anita Becker-Heck; Maimoona A Zariwala; Miriam Schmidts; Alexandros Onoufriadis; Mitra Forouhan; Robert Wilson; Theresa Taylor-Cox; Ann Dewar; Claire Jackson; Patricia Goggin; Niki T Loges; Heike Olbrich; Martine Jaspers; Mark Jorissen; Margaret W Leigh; Whitney E Wolf; M Leigh Anne Daniels; Peadar G Noone; Thomas W Ferkol; Scott D Sagel; Margaret Rosenfeld; Andrew Rutman; Abhijit Dixit; Christopher O'Callaghan; Jane S Lucas; Claire Hogg; Peter J Scambler; Richard D Emes; Eddie M K Chung; Amelia Shoemark; Michael R Knowles; Heymut Omran; Hannah M Mitchison
Journal:  Hum Mutat       Date:  2013-02-11       Impact factor: 4.878
  10 in total

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