Broadening the phenotypic spectrum and physiological insights related to EIF2S3 variants-Reference-Cited by-同舟云学术

Broadening the phenotypic spectrum and physiological insights related to EIF2S3 variants

Published:2021-05-19 Issue:7 Volume:42 Page:827-834
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Moortgat Stephanie¹^ORCID,Manfroid Isabelle²^ORCID,Pendeville Hélène³,Freeman Stephen⁴,Bourdouxhe Jordane²,Benoit Valérie¹^ORCID,Merhi Ahmad⁵⁶^ORCID,Philippe Christophe⁷⁸^ORCID,Faivre Laurence⁷⁹¹⁰^ORCID,Maystadt Isabelle¹¹¹^ORCID

Affiliation:

1. Center de Génétique Humaine Institut de Pathologie et de Génétique Gosselies Belgium

2. Laboratory of Zebrafish Development and Disease Models (ZDDM), GIGA‐Research, Tour B34 Université de Liège Liège (Sart‐Tilman) Belgium

3. GIGA‐Research, Zebrafish Platform, Tour B34 Université de Liège Liège (Sart‐Tilman) Belgium

4. GIGA‐Research, Imaging and Flow Cytometry Platform, Tour B34 Université de Liège Liège (Sart‐Tilman) Belgium

5. Laboratory of Translational Oncology Institut de Pathologie et de Génétique Gosselies Belgium

6. IPG BioBank Institut de Pathologie et de Génétique 6041 Charleroi Gosselies Belgium

7. Inserm UMR 1231 GAD, Genetics of Developmental disorders Université de Bourgogne‐Franche Comté Dijon France

8. Unité Fonctionnelle « Innovation diagnostique dans les maladies rares », laboratoire de génétique moléculaire, plate‐forme de biologie hospitalo‐universitaire CHU Dijon Dijon France

9. Center de Génétique et Center de Référence Maladies Rares « Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est », Hôpital d'Enfants CHU Dijon France

10. Fédération Hospitalo‐Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD) Centre Hospitalier Universitaire Dijon Dijon France

11. Faculté de Médecine, URPhyM UNamur Namur Belgium

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24215

Reference21 articles.

1. Pancreas Development in Zebrafish: Early Dispersed Appearance of Endocrine Hormone Expressing Cells and Their Convergence to Form the Definitive Islet

2. Nkx6.1 and nkx6.2 regulate α- and β-cell formation in zebrafish by acting on pancreatic endocrine progenitor cells

3. BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies

4. eIF2γ Mutation that Disrupts eIF2 Complex Integrity Links Intellectual Disability to Impaired Translation Initiation

5. KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

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