Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome-Reference-Cited by-同舟云学术

Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome

Published:2020-11 Issue:12 Volume:41 Page:2179-2194
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Epting Daniel¹,Senaratne Lokuliyange D. S.²,Ott Elisabeth¹,Holmgren Asbjørn²,Sumathipala Dulika²,Larsen Selma M.³,Wallmeier Julia⁴,Bracht Diana⁴,Frikstad Kari‐Anne M.⁵,Crowley Suzanne³,Sikiric Alma⁶,Barøy Tuva²,Käsmann‐Kellner Barbara⁷,Decker Eva⁸,Decker Christian⁸,Bachmann Nadine⁸,Patzke Sebastian⁵,Phelps Ian G.⁹,Katsanis Nicholas¹⁰,Giles Rachel¹¹,Schmidts Miriam¹²,Zucknick Manuela¹³,Lienkamp Soeren S.¹⁴,Omran Heymut⁴,Davis Erica E.¹⁰,Doherty Dan⁹,Strømme Petter³,Frengen Eirik²,Bergmann Carsten¹⁸,Misceo Doriana²^ORCID

Affiliation:

1. Department of Medicine IV, Faculty of Medicine Medical Center‐University of Freiburg Freiburg Germany

2. Department of Medical Genetics Oslo University Hospital, University of Oslo Oslo Norway

3. Division of Pediatric and Adolescent Medicine Oslo University Hospital, University of Oslo Oslo Norway

4. Klinik für Kinder‐ und Jugendmedizin Universitätsklinikum Münster Münster Germany

5. Department of Radiation Biology, Division of Cancer Medicine, Surgery and Transplantation, Institute for Cancer Research Oslo University Hospitals–Norwegian Radium Hospital Oslo Norway

6. Department of Neurohabilitation Oslo University Hospital Oslo Norway

7. Section of Pediatric Ophthalmology and Low Vision, Department of Ophthalmology University of Saarland Homburg Germany

8. Medizinische Genetik Mainz Limbach Genetics Mainz Germany

9. Department of Pediatrics, Seattle Children's Research Institute University of Washington Seattle Washington USA

10. Center for Human Disease Modeling Duke University Medical Center Durham North Carolina USA

11. Department of Nephrology and Hypertension University Medical Center Utrecht Utrecht The Netherlands

12. International Radboud Institute for Molecular Life Sciences Radboud University Nijmegen Nijmegen The Netherlands

13. Oslo Centre for Biostatistics and Epidemiology, Institute for Basic Medical Sciences University of Oslo Oslo Norway

14. Institute of Anatomy University of Zurich Zurich Switzerland

Funder

Deutsche Forschungsgemeinschaft

National Institute of Child Health and Human Development

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24127

Reference47 articles.

1. Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2

2. Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome

3. Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

4. Chibby promotes ciliary vesicle formation and basal body docking during airway cell differentiation

5. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

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