Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism-Reference-Cited by-同舟云学术

Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism

Published:2021-06-05 Issue:1 Volume:90 Page:143-158
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol

Author:

Schänzer Anne¹^ORCID,Achleitner Melanie T.²,Trümbach Dietrich³⁴^ORCID,Hubert Laurence⁵^ORCID,Munnich Arnold⁵^ORCID,Ahlemeyer Barbara⁶,AlAbdulrahim Maha M.⁷,Greif Philipp A.⁸^ORCID,Vosberg Sebastian⁸⁹^ORCID,Hummer Blake¹⁰,Feichtinger René G.²^ORCID,Mayr Johannes A.²,Wortmann Saskia B.²¹¹,Aichner Heidi¹²,Rudnik‐Schöneborn Sabine¹³,Ruiz Anna¹⁴^ORCID,Gabau Elisabeth¹⁵^ORCID,Sánchez Jacobo Pérez¹⁵^ORCID,Ellard Sian¹⁶¹⁷^ORCID,Homfray Tessa¹⁸,Stals Karen L.¹⁶,Wurst Wolfgang³¹⁹²⁰²¹^ORCID,Neubauer Bernd A.²²,Acker Till¹^ORCID,Bohlander Stefan K.²³,Asensio Cédric¹⁰,Besmond Claude⁵^ORCID,Alkuraya Fowzan S.²⁴^ORCID,AlSayed Moenaldeen D.²⁵,Hahn Andreas²²^ORCID,Weber Axel²⁶^ORCID

Affiliation:

1. Institute of Neuropathology Justus‐Liebig‐University Giessen Germany

2. University Children's Hospital, Paracelsus Medical University (PMU) Salzburg Austria

3. Institute of Developmental Genetics Helmholtz Center Munich Germany

4. Institute of Metabolism and Cell Death Helmholtz Center Munich Germany

5. Inserm UMR1163, Imagine Institute, Tanslational Genetics Université de Paris Paris France

6. Institute for Anatomy and Cell Biology, Division of Medical Cell Biology Justus Liebig University Giessen Germany

7. King Abdullah Bin Abdulaziz University Hospital Riyadh Saudi Arabia

8. Experimental Leukemia and Lymphoma Research Department of Medicine III University Hospital, LMU Munich Munich Germany

9. German Cancer Research Centre (DKFZ) Heidelberg Germany

10. Molecular and Cellular Biophysics Program, Department of Biological Sciences University of Denver Denver CO USA

11. Radboud Center for Mitochondrial Medicine, Department of Pediatrics Amalia Children's Hospital, Radboudumc Nijmegen The Netherlands

12. Department of Pediatrics Academic Teaching Hospital, Landeskrankenhaus Feldkirch Feldkirch Austria

13. Division of Human Genetics Medical University of Innsbruck Innsbruck Austria

14. Genetics Laboratory, UDIAT‐Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT Universitat Autònoma de Barcelona Sabadell Spain

15. Paediatric Unit, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc taulí I3PT Universitat Autònoma de Barcelona Sabadell Spain

16. Genomic Laboratory Royal Devon & Exeter NHS Foundation Trust Exeter UK

17. College of Medicine and Health University of Exeter Exeter UK

18. Saint George's University Hospital and Royal Brompton Hospital London UK

19. Chair of Developmental Genetics, Faculty of Life and Food Sciences Weihenstephan Technische Universität München Freising‐Weihenstephan Germany

20. Deutsches Zentrum für Neurodegenerative Erkrankungen e. V. (DZNE) Munich Germany

21. Munich Cluster for Systems Neurology (SyNergy) Ludwig‐Maximilians‐Universität Munich Germany

22. Department of Child Neurology Justus‐Liebig‐University Giessen Germany

23. Leukaemia and Blood Cancer Research Unit, Department of Molecular Medicine and Pathology The University of Auckland Auckland New Zealand

24. Department of Translational Genomics, Center for Genomic Medicine King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia

25. Department of Medical Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia

26. Institute of Human Genetics Justus‐Liebig‐University Giessen Germany

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.26127

Reference39 articles.

1. Exiting the Golgi complex

2. Isolation and Characterization of High-Temperature-Induced Dauer Formation Mutants in Caenorhabditis elegans

3. HID-1, a New Component of the Peptidergic Signaling Pathway

4. HID-1 is a peripheral membrane protein primarily associated with the medial- and trans- Golgi apparatus

5. HID-1 controls formation of large dense core vesicles by influencing cargo sorting and trans-Golgi network acidification

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