Mutations in the interleukin receptor IL 11 RA cause autosomal recessive Crouzon‐like craniosynostosis-Reference-Cited by-同舟云学术

Mutations in the interleukin receptor IL 11 RA cause autosomal recessive Crouzon‐like craniosynostosis

Published:2013-08-19 Issue:4 Volume:1 Page:223-237
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Keupp Katharina¹²³,Li Yun¹²³,Vargel Ibrahim⁴⁵,Hoischen Alexander⁶,Richardson Rebecca⁷,Neveling Kornelia⁶,Alanay Yasemin⁸⁹,Uz Elif¹⁰¹¹,Elcioğlu Nursel¹²,Rachwalski Martin¹²,Kamaci Soner¹³,Tunçbilek Gökhan⁴,Akin Burcu¹⁰,Grötzinger Joachim¹⁴,Konas Ersoy⁴,Mavili Emin⁴,Müller‐Newen Gerhard¹⁵,Collmann Hartmut¹⁶,Roscioli Tony⁶¹⁷,Buckley Michael F.⁶¹⁷,Yigit Gökhan¹²³,Gilissen Christian⁶,Kress Wolfram¹⁸,Veltman Joris⁶,Hammerschmidt Matthias¹³¹⁹,Akarsu Nurten A.¹⁰,Wollnik Bernd¹²³

Affiliation:

1. Center for Molecular Medicine Cologne (CMMC) University of Cologne 50931 Cologne Germany

2. Institute of Human Genetics University of Cologne 50931 Cologne Germany

3. Cologne Excellence Cluster on Cellular Stress Responses in Aging‐Associated Diseases (CECAD) University of Cologne 50931 Cologne Germany

4. Department of Plastic and Reconstructive Surgery Hacettepe University Medical Faculty 06100 Ankara Turkey

5. Department of Plastic and Reconstructive Surgery Medical Faculty Kirikkale University 71100 Kirikkale Turkey

6. Department of Human Genetics Radboud University Nijmegen Medical Centre 6500HB Nijmegen The Netherlands

7. Department of Physiology and Pharmacology University of Bristol BS8 1TD Bristol U.K

8. Department of Pediatrics Pediatric Genetics Unit Hacettepe University Medical Faculty 06100 Ankara Turkey

9. Department of Pediatrics Pediatric Genetics Unit Acibadem University 34457 İstanbul Turkey

10. Department of Medical Genetics Gene Mapping Laboratory, Hacettepe University Medical Faculty 06100 Ankara Turkey

11. Department of Biology Duzce University 81620 Duzce Turkey

12. Department of Pediatric Genetics Marmara University Medical Faculty 34668 Istanbul Turkey

13. Department of Orthodontics Hacettepe University Faculty of Dentistry 06100 Ankara Turkey

14. Medical Faculty Institute of Biochemistry University of Kiel 24118 Kiel Germany

15. Medical Faculty Institute of Biochemistry and Molecular Biology RWTH Aachen University 52074 Aachen Germany

16. Department for Neurosurgery Medical Faculty University of Würzburg 97070 Würzburg Germany

17. Department of Haematology and Genetics South Eastern Area Laboratory Services 2031 Sydney Australia

18. Medical Faculty Institute of Human Genetics University of Würzburg 97047 Würzburg Germany

19. Institute of Developmental Biology University of Cologne 50674 Cologne Germany

Funder

German Federal Ministry of Education and Research

Hacettepe University Research Foundation

European Research Area Network “E-RARE”

EMBO long-term fellowship

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.28

Reference41 articles.

1. Activation of the Janus Kinase/STAT (Signal Transducer and Activator of Transcription) Signal Transduction Pathway by Interleukin-6-Type Cytokines Promotes Osteoblast Differentiation*

2. Craniosynostosis and syndromes with craniosynostosis: incidence, genetics, penetrance, variability, and new syndrome updating;Cohen M. M.;Birth Defects Orig Artic Ser,1979

3. Malformations of the craniofacial region: Evolutionary, embryonic, genetic, and clinical perspectives

4. Faster sequential genetic linkage computations;Cottingham R. W.;Am J Hum Genet.,1993

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