Systemic inflammatory syndrome in children with <scp> <i>FARSA</i> </scp> deficiency-Reference-Cited by-同舟云学术

Systemic inflammatory syndrome in children with FARSA deficiency

Published:2022-02-17 Issue:5-6 Volume:101 Page:552-558
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Charbit‐Henrion Fabienne¹,Goguyer‐Deschaumes Roman¹,Borensztajn Keren²,Mirande Marc³,Berthelet Jérémy⁴,Rodrigues‐Lima Fernando⁵,Khiat Anis¹,Frémond Marie‐Louise⁶,Bader‐Meunier Brigitte⁷,Rodari Marco M.¹,Seabra Luis⁶,Rice Gillian I.⁸,Legendre Marie³,Drummond David⁹,Berteloot Laureline¹⁰,Roux Charles‐Joris¹⁰,Boddaert Nathalie¹⁰,Drabent Philippe¹¹,Molina Thierry Jo¹¹,Lacaille Florence¹²,Kossorotoff Manoelle¹³,Cerf‐Bensussan Nadine¹,Parlato Marianna¹,Hadchouel Alice⁸

Affiliation:

1. Laboratory of Intestinal Immunity Université de Paris, Imagine Institute, Inserm, UMR1163 Paris France

2. Sorbonne Université, Inserm, Childhood Genetic Disorders, Hôpital Trousseau Paris France

3. Laboratoire de Biologie et Pharmacologie Appliquée UMR8113 CNRS, ENS Paris‐Saclay, Université Paris‐Saclay Gif‐sur‐Yvette France

4. Université de Paris, CEDC, UMR 7216, CNRS Paris France

5. Unité de Biologie Fonctionnelle et Adaptative, Université de Paris, CNRS UMR 8251 Paris France

6. Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, Université de Paris Paris France

7. AP‐HP, Hôpital Universitaire Necker‐Enfants Malades, Service d'Immuno‐Hématologie Pédiatrique Paris France

8. Division of Evolution and Genomic Sciences School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre Manchester UK

9. AP‐HP, Hôpital Universitaire Necker‐Enfants Malades, Service de Pneumologie Pédiatrique Paris France

10. APHP, Hôpital Universitaire Necker‐Enfants Malades, Service d'Imagerie Pédiatrique Paris France

11. APHP, Hôpital Universitaire Necker‐Enfants Malades, Service d'Anatomopathologie Paris France

12. AP‐HP, Hôpital Universitaire Necker‐Enfants Malades, Service de Gastroentérologie et Hépatologie Pédiatriques Paris France

13. AP‐HP, Hôpital Universitaire Necker‐Enfants Malades, Service de Neurologie Pédiatrique Paris France

Funder

Fondation Maladies Rares

Institut National de la Santé et de la Recherche Médicale

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14120

Reference12 articles.

1. The Role of Aminoacyl-tRNA Synthetases in Genetic Diseases

2. Aminoacyl-tRNA synthetase deficiencies in search of common themes

3. FARSA mutations mimic phenylalanyl‐tRNA synthetase deficiency caused by FARSB defects

5. Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function

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