Gain‐of‐Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome-Reference-Cited by-同舟云学术

Gain‐of‐Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome

Published:2014-09-25 Issue:10 Volume:35 Page:1221-1232
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Morin Gilles¹,Bruechle Nadina Ortiz²,Singh Amrathlal Rabbind¹,Knopp Cordula²,Jedraszak Guillaume¹,Elbracht Miriam²,Brémond‐Gignac Dominique³,Hartmann Kathi⁴,Sevestre Henri⁵,Deutz Peter⁶,Hérent Didier¹,Nürnberg Peter⁷,Roméo Bernard⁸,Konrad Kerstin⁹,Mathieu‐Dramard Michèle¹,Oldenburg Johannes¹⁰,Bourges‐Petit Elisabeth¹¹,Shen Yuequan¹²,Zerres Klaus²,Ouadid‐Ahidouch Halima¹³,Rochette Jacques¹

Affiliation:

1. Department of Molecular and Clinical Genetics, EA 4666, CHU d’Amiens Université de Picardie Jules Verne Amiens France

2. Department of Human Genetics RWTH University Hospital Aachen Germany

3. Department of Ophthalmology, CHU d’Amiens Amiens France

4. Department of Ophthalmology RWTH University Hospital Aachen Germany

5. Department of Pathology EA4667 CHU d’Amiens Amiens France

6. Department of Pediatrics RWTH University Hospital Aachen Germany

7. Cologne Center for Genomics (CCG) University of Cologne Cologne Germany

8. Department of Paediatric Pneumology CHU d’Amiens Amiens France

9. Child Neuropsychology Section, Department of Child and Adolescent Psychiatry and Psychotherapy RWTH University Hospital Aachen Germany

10. Institute of Experimental Haematology and Transfusion Medicine University Clinic Bonn Bonn Germany

11. Department of Paediatric Cardiology CHU d'Amiens Amiens France

12. Collaborative Innovation Center of Chemical Science and Engineering (Tianjin) and College of Life Sciences Nankai University Tianjin China

13. Laboratory of Cellular and Molecular Physiology, EA 4667 UFR of Sciences Amiens France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.22621

Reference43 articles.

1. A method and server for predicting damaging missense mutations

2. Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates

3. Clinical and genetic heterogeneity in laminopathies

4. Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy

5. Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

Cited by 105 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. Adaptation of STIM1 structure-function relationships for optogenetic control of calcium signaling;Journal of Biological Chemistry;2024-09

2. Inherited Disorders of Cornification;Rook's Textbook of Dermatology;2024-03-19

3. ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndrome;JCI Insight;2024-03-05

4. Pathogenic DPAGT1 variants in limb‐girdle congenital myasthenic syndrome (LG‐CMS) associated with tubular aggregates and ORAI1 hypoglycosylation;Neuropathology and Applied Neurobiology;2024-01-21

5. Endoplasmic Reticulum Calcium Mediates Drosophila Wing Development;Bioelectricity;2023-12-01