Loss-of-function mutations inKIF14cause severe microcephaly and kidney development defects in humans and zebrafish

Author:

Reilly Madeline Louise12,Stokman Marijn F3,Magry Virginie1,Jeanpierre Cecile1,Alves Marine1ORCID,Paydar Mohammadjavad4,Hellinga Jacqueline5,Delous Marion1,Pouly Daniel1,Failler Marion1,Martinovic Jelena67,Loeuillet Laurence8,Leroy Brigitte9,Tantau Julia9,Roume Joelle10,Gregory-Evans Cheryl Y11,Shan Xianghong11,Filges Isabel121314,Allingham John S5,Kwok Benjamin H4,Saunier Sophie1,Giles Rachel H15,Benmerah Alexandre1

Affiliation:

1. Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Imagine Institute, Paris, France

2. Paris Diderot University, Department of Life Sciences, Paris, France

3. Department of Genetics, University Medical Center Utrecht, Utrecht University, JE Utrecht, Netherlands

4. Institute for Research in Immunology and Cancer, Département de médecine, Université de Montréal, PO Box 6128, Station Centre-Ville, Montréal, QC, Canada

5. Department of Biomedical and Molecular Sciences, Queen's University, Kingston, ON K7L 3N6, Canada

6. Unit of Fetal Pathology, Antoine Béclère Hospital, AP-HP, Clamart, France

7. INSERM U-788, Génétique/Neurogénétique, 94270 Le Kremlin-Bicêtre, France

8. Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker–Enfants Malades, AP-HP, Paris, France

9. Service d'Anatomie et de Cytologie Pathologiques, Centre hospitalier intercommunal de Poissy, Saint Germain en Laye, France

10. Service de Génétique, Centre hospitalier intercommunal de Poissy, 78100 Saint Germain en Laye, France

11. Department of Ophthalmology, University of British Columbia, Vancouver, BC V6T 1Z4, Canada

12. Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital of Basel, University of Basel, Basel, Switzerland

13. Department of Clinical Research, University Hospital of Basel, University of Basel, Basel, Switzerland

14. Department of Genetics, University of British Columbia, Vancouver, BC V6T 1Z4, Canada

15. Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht University, 3512 JE Utrecht, Netherlands

Funder

Fondation pour la Recherche Médicale

European Union’s Seventh Framework Programme

GIS-Institut des Maladies Rares

Canadian Institutes of Health Research

Natural Sciences and Engineering Research Council of Canada

Canadian Cancer Society Research Institute

Fonds de Recherche du Québec - Santé

Swiss National Science Foundation

Dutch Kidney Foundation

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Reference63 articles.

1. Genetic, environmental, and epigenetic factors involved in CAKUT;Nicolaou;Nat. Rev. Nephrol.,2015

2. Ciliopathies;Braun;Cold Spring Harb. Perspect. Biol.,2017

3. Development of the mammalian kidney;McMahon;Curr. Top. Dev. Biol.,2016

4. A brief review of kidney development, maturation, developmental abnormalities, and drug toxicity: juvenile animal relevancy;Seely;J. Toxicol. Pathol.,2017

5. Zebrafish kidney development;Drummond;Methods Cell Biol.,2016

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