Literature DB >> 20350728

Primary ciliary dyskinesia in Amish communities.

Hauw Lie1, Maimoona A Zariwala2, Cynthia Helms3, Anne M Bowcock3, John L Carson4, David E Brown4, Milan J Hazucha2, James Forsen5, David Molter5, Michael R Knowles6, Margaret W Leigh4, Thomas W Ferkol7.   

Abstract

Primary ciliary dyskinesia is an autosomal recessive multigenic disease that results in impaired mucociliary clearance. We have diagnosed 9 subjects with primary ciliary dyskinesia from geographically dispersed Amish communities, on the basis of clinical characteristics and ciliary ultrastructural defects. Despite consanguinity, affected individuals had evidence of genetic heterogeneity. Copyright 2010 Mosby, Inc. All rights reserved.

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Year:  2010        PMID： 20350728      PMCID： PMC2875274          DOI： 10.1016/j.jpeds.2010.01.054

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  10 in total

Review 1.  Mucus clearance as a primary innate defense mechanism for mammalian airways.

Authors:  Michael R Knowles; Richard C Boucher
Journal:  J Clin Invest       Date:  2002-03       Impact factor: 14.808

2.  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

3.  Situs inversus, asymmetry, and twinning.

Authors:  J TORGERSEN
Journal:  Am J Hum Genet       Date:  1950-12       Impact factor: 11.025

4.  Situs inversus totalis and Kartagener's syndrome in a Japanese population.

Authors:  K Katsuhara; S Kawamoto; T Wakabayashi; J L Belsky
Journal:  Chest       Date:  1972-01       Impact factor: 9.410

Review 5.  Primary ciliary dyskinesia and newborn respiratory distress.

Authors:  Thomas Ferkol; Margaret Leigh
Journal:  Semin Perinatol       Date:  2006-12       Impact factor: 3.300

Review 6.  Flagellar assembly in two hundred and fifty easy-to-follow steps.

Authors:  S K Dutcher
Journal:  Trends Genet       Date:  1995-10       Impact factor: 11.639

7.  Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.

Authors:  Maimoona A Zariwala; Margaret W Leigh; Franck Ceppa; Marcus P Kennedy; Peadar G Noone; Johnny L Carson; Milan J Hazucha; Adriana Lori; Judit Horvath; Heike Olbrich; Niki T Loges; Anne-Marie Bridoux; Gaëlle Pennarun; Bénédicte Duriez; Estelle Escudier; Hannah M Mitchison; Rahul Chodhari; Eddie M K Chung; Lucy C Morgan; Robbert U de Iongh; Jonathan Rutland; Ugo Pradal; Heymut Omran; Serge Amselem; Michael R Knowles
Journal:  Am J Respir Crit Care Med       Date:  2006-07-20       Impact factor: 21.405

8.  Primary ciliary dyskinesia: diagnostic and phenotypic features.

Authors:  Peadar G Noone; Margaret W Leigh; Aruna Sannuti; Susan L Minnix; Johnny L Carson; Milan Hazucha; Maimoona A Zariwala; Michael R Knowles
Journal:  Am J Respir Crit Care Med       Date:  2003-12-04       Impact factor: 21.405

Review 9.  Primary ciliary dyskinesia: current state of the art.

Authors:  Andrew Bush; Rahul Chodhari; Nicola Collins; Fiona Copeland; Pippa Hall; Jonny Harcourt; Mohamed Hariri; Claire Hogg; Jane Lucas; Hannah M Mitchison; Christopher O'Callaghan; Gill Phillips
Journal:  Arch Dis Child       Date:  2007-07-18       Impact factor: 3.791

Review 10.  Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.

Authors:  Margaret W Leigh; Jessica E Pittman; Johnny L Carson; Thomas W Ferkol; Sharon D Dell; Stephanie D Davis; Michael R Knowles; Maimoona A Zariwala
Journal:  Genet Med       Date:  2009-07       Impact factor: 8.822
  10 in total
  6 in total

1.  Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia.

Authors:  Margaret W Leigh; Milan J Hazucha; Kunal K Chawla; Brock R Baker; Adam J Shapiro; David E Brown; Lisa M Lavange; Bethany J Horton; Bahjat Qaqish; Johnny L Carson; Stephanie D Davis; Sharon D Dell; Thomas W Ferkol; Jeffrey J Atkinson; Kenneth N Olivier; Scott D Sagel; Margaret Rosenfeld; Carlos Milla; Hye-Seung Lee; Jeffrey Krischer; Maimoona A Zariwala; Michael R Knowles
Journal:  Ann Am Thorac Soc       Date:  2013-12

2.  Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia.

Authors:  Amjad Horani; Todd E Druley; Maimoona A Zariwala; Anand C Patel; Benjamin T Levinson; Laura G Van Arendonk; Katherine C Thornton; Joe C Giacalone; Alison J Albee; Kate S Wilson; Emily H Turner; Deborah A Nickerson; Jay Shendure; Philip V Bayly; Margaret W Leigh; Michael R Knowles; Steven L Brody; Susan K Dutcher; Thomas W Ferkol
Journal:  Am J Hum Genet       Date:  2012-10-05       Impact factor: 11.025

Review 3.  The emerging genetics of primary ciliary dyskinesia.

Authors:  Maimoona A Zariwala; Heymut Omran; Thomas W Ferkol
Journal:  Proc Am Thorac Soc       Date:  2011-09

4.  Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities.

Authors:  Thomas W Ferkol; Erik G Puffenberger; Hauw Lie; Cynthia Helms; Kevin A Strauss; Anne Bowcock; John L Carson; Milan Hazucha; D Holmes Morton; Anand C Patel; Margaret W Leigh; Michael R Knowles; Maimoona A Zariwala
Journal:  J Pediatr       Date:  2013-03-07       Impact factor: 4.406

5.  Flexural Rigidity and Shear Stiffness of Flagella Estimated from Induced Bends and Counterbends.

Authors:  Gang Xu; Kate S Wilson; Ruth J Okamoto; Jin-Yu Shao; Susan K Dutcher; Philip V Bayly
Journal:  Biophys J       Date:  2016-06-21       Impact factor: 4.033

Review 6.  Primary ciliary dyskinesia: mechanisms and management.

Authors:  Nadirah Damseh; Nada Quercia; Nisreen Rumman; Sharon D Dell; Raymond H Kim
Journal:  Appl Clin Genet       Date:  2017-09-19
  6 in total

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