Literature DB >> 31572664

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

Margaret W Leigh1, Amjad Horani2, BreAnna Kinghorn3, Michael G O'Connor4, Maimoona A Zariwala5, Michael R Knowles6.   

Abstract

Entities:  

Year:  2019        PMID： 31572664      PMCID： PMC6768089          DOI： 10.3233/TRD-190036

Source DB:  PubMed          Journal:  Transl Sci Rare Dis


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  155 in total

1.  Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.

Authors:  Francesca Boaretto; Deborah Snijders; Cecilia Salvoro; Ambra Spalletta; Maria Luisa Mostacciuolo; Mirella Collura; Salvatore Cazzato; Donatella Girosi; Michela Silvestri; Giovanni Arturo Rossi; Angelo Barbato; Giovanni Vazza
Journal:  J Mol Diagn       Date:  2016-09-13       Impact factor: 5.568

2.  A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.

Authors:  Bartlomiej Budny; Wei Chen; Heymut Omran; Manfred Fliegauf; Andreas Tzschach; Marzena Wisniewska; Lars R Jensen; Martine Raynaud; Sarah A Shoichet; Magda Badura; Steffen Lenzner; Anna Latos-Bielenska; Hans-Hilger Ropers
Journal:  Hum Genet       Date:  2006-06-17       Impact factor: 4.132

Review 3.  Ciliopathies: the central role of cilia in a spectrum of pediatric disorders.

Authors:  Thomas W Ferkol; Margaret W Leigh
Journal:  J Pediatr       Date:  2011-12-16       Impact factor: 4.406

4.  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

5.  RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia.

Authors:  Dong-Hyun Hong; Basil Pawlyk; Maxim Sokolov; Katherine J Strissel; Jun Yang; Brian Tulloch; Alan F Wright; Vadim Y Arshavsky; Tiansen Li
Journal:  Invest Ophthalmol Vis Sci       Date:  2003-06       Impact factor: 4.799

6.  Reconstructions of centriole formation and ciliogenesis in mammalian lungs.

Authors:  S P Sorokin
Journal:  J Cell Sci       Date:  1968-06       Impact factor: 5.285

7.  Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.

Authors:  Hannah M Mitchison; Miriam Schmidts; Niki T Loges; Judy Freshour; Athina Dritsoula; Rob A Hirst; Christopher O'Callaghan; Hannah Blau; Maha Al Dabbagh; Heike Olbrich; Philip L Beales; Toshiki Yagi; Huda Mussaffi; Eddie M K Chung; Heymut Omran; David R Mitchell
Journal:  Nat Genet       Date:  2012-03-04       Impact factor: 38.330

Review 8.  Bacterial infections in patients with primary ciliary dyskinesia: Comparison with cystic fibrosis.

Authors:  Christiaan Dm Wijers; James F Chmiel; Benjamin M Gaston
Journal:  Chron Respir Dis       Date:  2017-03-06       Impact factor: 2.444

9.  The N-DRC forms a conserved biochemical complex that maintains outer doublet alignment and limits microtubule sliding in motile axonemes.

Authors:  Raqual Bower; Douglas Tritschler; Kristyn Vanderwaal; Catherine A Perrone; Joshua Mueller; Laura Fox; Winfield S Sale; M E Porter
Journal:  Mol Biol Cell       Date:  2013-02-20       Impact factor: 4.138

10.  Study protocol, rationale and recruitment in a European multi-centre randomized controlled trial to determine the efficacy and safety of azithromycin maintenance therapy for 6 months in primary ciliary dyskinesia.

Authors:  Helene E Kobbernagel; Frederik F Buchvald; Eric G Haarman; Carmen Casaulta; Samuel A Collins; Claire Hogg; Claudia E Kuehni; Jane S Lucas; Heymut Omran; Alexandra L Quittner; Claudius Werner; Kim G Nielsen
Journal:  BMC Pulm Med       Date:  2016-07-22       Impact factor: 3.317
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  17 in total

1.  The role of SPAG1 in the assembly of axonemal dyneins in human airway epithelia.

Authors:  Amanda J Smith; Ximena M Bustamante-Marin; Weining Yin; Patrick R Sears; Laura E Herring; Nedyalka N Dicheva; Francesc López-Giráldez; Shrikant Mane; Robert Tarran; Margaret W Leigh; Michael R Knowles; Maimoona A Zariwala; Lawrence E Ostrowski
Journal:  J Cell Sci       Date:  2022-03-31       Impact factor: 5.285

2.  Primary Ciliary Dyskinesia: Phenotype Resulting From a Novel Variant of LRRC56 Gene.

Authors:  Badriah G Alasmari; Muhammad Saeed; Mohammed A Alomari; Mohammad Alsumaili; Ali M Tahir
Journal:  Cureus       Date:  2022-08-27

3.  Dnah9 mutant mice and organoid models recapitulate the clinical features of patients with PCD and provide an excellent platform for drug screening.

Authors:  Rui Zheng; Wenhao Yang; Yuting Wen; Liang Xie; Fang Shi; Danli Lu; Jiaxin Luo; Yan Li; Rui Zhang; Ting Chen; Lina Chen; Wenming Xu; Hanmin Liu
Journal:  Cell Death Dis       Date:  2022-06-21       Impact factor: 9.685

4.  Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia.

Authors:  Ximena M Bustamante-Marin; Adam Shapiro; Lawrence E Ostrowski; Maimoona A Zariwala; Patrick R Sears; Wu-Lin Charng; Donald F Conrad; Margaret W Leigh; Michael R Knowles
Journal:  J Hum Genet       Date:  2019-10-21       Impact factor: 3.172

5.  Transcript analysis for variant classification resolution in a child with primary ciliary dyskinesia.

Authors:  Alexander Ing; Alissa Wlodaver; Dawn Kirschmann; Erica Toledo; Christopher McCabe; Sabah Kadri; Mary Kate McIntyre; Joanne Salazar; Kristina Firestein; Joel Charrow; Victoria Sanders; Theresa Laguna; Kai Lee Yap
Journal:  Cold Spring Harb Mol Case Stud       Date:  2021-02-19

6.  Primary Ciliary Dyskinesia Diagnostic Challenges: Understanding the Clinical Phenotype of the Puerto Rican RSPH4A Founder Mutation.

Authors:  Wilfredo De Jesús-Rojas; Dalilah Reyes-De Jesús; Ricardo A Mosquera
Journal:  Diagnostics (Basel)       Date:  2021-02-11

Review 7.  Rare Human Diseases: Model Organisms in Deciphering the Molecular Basis of Primary Ciliary Dyskinesia.

Authors:  Martyna Poprzeczko; Marta Bicka; Hanan Farahat; Rafal Bazan; Anna Osinka; Hanna Fabczak; Ewa Joachimiak; Dorota Wloga
Journal:  Cells       Date:  2019-12-11       Impact factor: 6.600

8.  Primary ciliary dyskinesia and psychological well-being in adolescence.

Authors:  Selene Valero-Moreno; Silvia Castillo-Corullón; Inmaculada Montoya-Castilla; Marián Pérez-Marín
Journal:  PLoS One       Date:  2020-01-23       Impact factor: 3.240

9.  Novel dynein axonemal assembly factor 1 mutations identified using whole‑exome sequencing in patients with primary ciliary dyskinesia.

Authors:  Lei Zhou; Zhuozhe Li; Chunling Du; Cuicui Chen; Yingxin Sun; Liang Gu; Feng Zhou; Yuanlin Song
Journal:  Mol Med Rep       Date:  2020-10-06       Impact factor: 2.952

10.  A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice.

Authors:  Zakia Abdelhamed; Marshall Lukacs; Sandra Cindric; Saima Ali; Heymut Omran; Rolf W Stottmann
Journal:  Dis Model Mech       Date:  2020-10-30       Impact factor: 5.758
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