Biallelic <scp> <i>KIF24</i> </scp> Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia-Reference-Cited by-同舟云学术

Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia

Published:2022-07-19 Issue:9 Volume:37 Page:1642-1652
ISSN:0884-0431
Container-title:Journal of Bone and Mineral Research
language:en
Short-container-title:J of Bone & Mineral Res

Author:

Reilly Madeline Louise¹,Ain Noor ul²³^ORCID,Muurinen Mari⁴⁵⁶,Tata Alice¹^ORCID,Huber Céline⁷⁸,Simon Marleen⁹,Ishaq Tayyaba²,Shaw Nick¹⁰¹¹,Rusanen Salla⁴,Pekkinen Minna⁴⁵⁶,Högler Wolfgang¹¹¹²^ORCID,Knapen Maarten F. C. M.¹³,van den Born Myrthe¹⁴,Saunier Sophie¹,Naz Sadaf²,Cormier‐Daire Valérie⁷⁸^ORCID,Benmerah Alexandre¹^ORCID,Makitie Outi³⁴⁵⁶^ORCID

Affiliation:

1. Imagine Institute, Laboratory of Inherited Kidney Diseases, Institut National de la Santé et de la Recherche Médicale (INSERM) Unités Mixtes de Recherche (UMR) 1163 Université Paris Cité Paris France

2. School of Biological Sciences University of the Punjab Lahore Pakistan

3. Department of Molecular Medicine and Surgery and Center for Molecular Medicine Karolinska Institutet Stockholm Sweden

4. Folkhälsan Research Center Helsinki Finland

5. Children's Hospital University of Helsinki and Helsinki University Hospital Helsinki Finland

6. Research Program for Clinical and Molecular Metabolism University of Helsinki Helsinki Finland

7. Imagine Institute, Laboratory of Molecular and Physiopathological bases of Osteochondrodysplasia, Institut National de la Santé et de la Recherche Médicale (INSERM) Unités Mixtes de Recherche (UMR) 1163 Université Paris Cité Paris France

8. Department of Genetics, Reference Centre for Skeletal Dysplasia, Assistance Publique–Hôpitaux de Paris Necker‐Enfants Malades Hospital Paris France

9. Department of Medical Genetics University Medical Centre Utrecht Utrecht The Netherlands

10. Department of Endocrinology & Diabetes Birmingham Children's Hospital Birmingham UK

11. Institute of Metabolism and Systems Research University of Birmingham Birmingham UK

12. Department of Paediatrics and Adolescent Medicine Johannes Kepler University Linz Linz Austria

13. Department of Obstetrics and Fetal Medicine Erasmus Medical Center Rotterdam The Netherlands

14. Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam The Netherlands

Funder

Folkhälsanin Tutkimussäätiö

Higher Education Commission, Pakistan

Novo Nordisk Fonden

Sigrid Juséliuksen Säätiö

Stockholms Läns Landsting

Vetenskapsrådet

ASCRS Research Foundation

Academy of Finland

Horizon 2020 Framework Programme

European Commission

Université Paris Diderot

Agence Nationale de la Recherche

Pakistan Science Foundation

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jbmr.4639

Reference20 articles.

1. Nosology and classification of genetic skeletal disorders: 2019 revision

2. Genes and molecular pathways underpinning ciliopathies

3. Ciliopathies

4. Centriolar Kinesin Kif24 Interacts with CP110 to Remodel Microtubules and Regulate Ciliogenesis

5. Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

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