Expanding the Phenotype Associated with NAA10‐Related N‐Terminal Acetylation Deficiency-Reference-Cited by-同舟云学术

Expanding the Phenotype Associated with NAA10‐Related N‐Terminal Acetylation Deficiency

Published:2016-05-04 Issue:8 Volume:37 Page:755-764
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Saunier Chloé¹²,Støve Svein Isungset³⁴,Popp Bernt⁵,Gérard Bénédicte⁶,Blenski Marina³,AhMew Nicholas⁷,Bie Charlotte⁸,Goldenberg Paula⁹,Isidor Bertrand¹⁰¹¹,Keren Boris¹²¹³,Leheup Bruno¹⁴,Lampert Laetitia¹⁴,Mignot Cyril¹⁵,Tezcan Kamer¹⁶,Mancini Grazia M.S.¹⁷,Nava Caroline¹²¹³,Wasserstein Melissa¹⁸,Bruel Ange‐Line¹⁹²⁰,Thevenon Julien¹¹⁹²⁰,Masurel Alice¹¹⁹,Duffourd Yannis¹⁹²⁰,Kuentz Paul¹⁹²⁰,Huet Frédéric²¹⁹²⁰,Rivière Jean‐Baptiste¹⁹²⁰²¹,Slegtenhorst Marjon¹⁷,Faivre Laurence¹¹⁹²⁰,Piton Amélie⁶,Reis André⁵,Arnesen Thomas³⁴,Thauvin‐Robinet Christel¹¹⁹²⁰,Zweier Christiane⁵

Affiliation:

1. Centre de Référence maladies rares « Anomalies du Développement et syndrome malformatifs » de l'Est et Centre de Génétique Hôpital d'Enfants CHU Dijon France

2. Service de Pédiatrie Hôpital d'Enfants CHU Dijon Dijon France

3. Department of Molecular Biology University of Bergen Bergen Norway

4. Department of Surgery Haukeland University Hospital Bergen Norway

5. Institute of Human Genetics Friedrich‐Alexander‐Universität Erlangen‐Nürnberg (FAU) Erlangen Germany

6. Laboratoire de Génétique Moléculaire CHRU Strasbourg Strasbourg France

7. Division of Genetics and Metabolism Children's National Medical Center Washington DC

8. Department of Genetics UMC Utrecht Utrecht The Netherlands

9. Medical Genetics Massachusetts General Hospital Boston Massachusetts

10. Service de Génétique Médicale CHU Nantes Nantes France

11. INSERM UMR‐S 957 Nantes France

12. AP‐HP Hôpital de la Pitié‐Salpêtrière Département de Génétique Paris France

13. UPMC Inserm CNRS UM 75, U 1127, UMR 7225, ICM Paris F‐75013 France

14. Service de Génétique Médicale Hôpital Brabois CHU Nancy Nancy France

15. APHP Département de Génétique et Centre de Référence Déficiences Intellectuelles de Causes Rares Groupe Hospitalier Pitié Salpêtrière Paris France

16. Kaiser Permanente Department of Genetics Sacramento California

17. Department of Clinical Genetics Erasmus University Medical Center Rotterdam The Netherlands

18. Departments of Genetics and Genomic Sciences and Pediatrics Icahn School of Medicine at Mount Sinai New York

19. FHU‐TRANSLAD Université de Bourgogne/CHU Dijon Dijon France

20. Equipe EA4271 GAD Université de Bourgogne Dijon France

21. Laboratoire de Génétique Moléculaire PTB CHU Dijon Dijon France

Funder

Deutsche Forschungsgemeinschaft

Kreftforeningen

Bergens Forskningsstiftelse

Norges Forskningsråd

Helse Vest

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23001

Reference33 articles.

1. A method and server for predicting damaging missense mutations

2. Molecular, Cellular, and Physiological Significance of N-Terminal Acetylation

3. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen‐receptor gene correlates with X chromosome inactivation;Allen RC;Am J Hum Genet,1992

4. Identification and characterization of the human ARD1–NATH protein acetyltransferase complex

5. Proteomics analyses reveal the evolutionary conservation and divergence of N-terminal acetyltransferases from yeast and humans

Cited by 75 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Management of ultrarare inherited arrhythmia syndromes;Heart Rhythm;2024-08

2. Ophthalmic manifestations of NAA10‐related and NAA15‐related neurodevelopmental syndromes: Analysis of cortical visual impairment and refractive errors;American Journal of Medical Genetics Part A;2024-07-16

3. Neuroanatomical Features of NAA10- and NAA15-Related Neurodevelopmental Syndromes;2024-06-25

4. Longitudinal adaptive behavioral outcomes in Ogden syndrome by seizure status and therapeutic intervention;American Journal of Medical Genetics Part A;2024-05-15

5. Naa10 regulates hippocampal neurite outgrowthviaBtbd3 N-α-acetylation-mediated actin dynamics;2024-05-10