Biallelic variants in <scp> <i>CEP164</i> </scp> cause a motile ciliopathy‐like syndrome-Reference-Cited by-同舟云学术

Biallelic variants in CEP164 cause a motile ciliopathy‐like syndrome

Published:2022-11-03 Issue:3 Volume:103 Page:330-334
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Devlin Laura A.¹^ORCID,Coles Janice²,Jackson Claire L.²,Barroso‐Gil Miguel¹^ORCID,Green Ben³,Walker Woolf T.²,Thomas N. Simon⁴⁵^ORCID,Thompson James²^ORCID,Rock Simon A.⁶^ORCID,Neatu Ruxandra¹,Powell Laura¹,Molinari Elisa¹,Wilson Ian J.⁷,Cordell Heather J.⁸^ORCID,Olinger Eric¹^ORCID,Miles Colin G.¹,Sayer John A.¹⁹¹⁰^ORCID,Wheway Gabrielle⁴^ORCID,Lucas Jane S.²^ORCID,

Affiliation:

1. Translational and Clinical Research Institute, Faculty of Medical Sciences Newcastle University Newcastle upon Tyne UK

2. Primary Ciliary Dyskinesia Centre, NIHR Southampton Biomedical Research Centre University of Southampton Faculty of Medicine and University Hospital Southampton NHS Foundation Trust Southampton UK

3. Department of Respiratory Medicine University Hospitals NHS Trust Portsmouth UK

4. Human Development and Health, Faculty of Medicine University of Southampton Southampton UK

5. Wessex Regional Genetics Laboratory Salisbury NSF Foundation Trust, Salisbury District Hospital Salisbury UK

6. North East Innovation Lab The Newcastle upon Tyne Hospitals NHS Foundation Trust, The Biosphere Newcastle upon Tyne UK

7. Biosciences Institute, Faculty of Medical Sciences Newcastle University Newcastle upon Tyne UK

8. Population Health Sciences Institute, Faculty of Medical Sciences Newcastle University Newcastle upon Tyne UK

9. Renal Services Centre The Newcastle upon Tyne Hospitals NHS Foundation Trust Newcastle upon Tyne UK

10. National Institute for Health Research Newcastle Biomedical Research Centre Newcastle upon Tyne UK

Funder

AAIR Charity

Kidney Research UK

National Institute for Health and Care Research

Northern Counties Kidney Research Fund

Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14251

Reference19 articles.

1. Genes and molecular pathways underpinning ciliopathies

2. Motile and non-motile cilia in human pathology: from function to phenotypes

3. Primary ciliary dyskinesia in the genomics age

4. Cep164 mediates vesicular docking to the mother centriole during early steps of ciliogenesis

5. Molecular mechanisms underlying the role of the centriolar CEP164-TTBK2 complex in ciliopathies

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1. Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations;Human Molecular Genetics;2023-08-09

2. A novel pathogenic variant of CEP164 in an infant with Senior‐Loken syndrome;Pediatric Investigation;2023-06

3. Schmidtea mediterranea as a Model Organism to Study the Molecular Background of Human Motile Ciliopathies;International Journal of Molecular Sciences;2023-02-24

4. Cytoskeleton: The many flavors of cilia transition fibers;Current Biology;2023-02