Inactivation of AMMECR1 is associated with growth, bone, and heart alterations-Reference-Cited by-同舟云学术

Inactivation of AMMECR1 is associated with growth, bone, and heart alterations

Published:2017-12-14 Issue:2 Volume:39 Page:281-291
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Moysés-Oliveira Mariana¹²,Giannuzzi Giuliana²,Fish Richard J.³,Rosenfeld Jill A.⁴,Petit Florence⁵,Soares Maria de Fatima⁶,Kulikowski Leslie Domenici⁷,Di-Battista Adriana¹,Zamariolli Malú¹,Xia Fan⁴,Liehr Thomas⁸,Kosyakova Nadezda⁸,Carvalheira Gianna¹,Parker Michael⁹,Seaby Eleanor G.¹⁰,Ennis Sarah¹⁰,Gilbert Rodney D.¹¹,Hagelstrom R. Tanner¹²,Cremona Maria L.¹²,Li Wenhui L.¹²,Malhotra Alka¹²,Chandrasekhar Anjana¹²,Perry Denise L.¹²,Taft Ryan J.¹²,McCarrier Julie¹³,Basel Donald G.¹³,Andrieux Joris¹⁴,Stumpp Taiza¹⁵,Antunes Fernanda¹⁶,Pereira Gustavo José¹⁶,Neerman-Arbez Marguerite³,Meloni Vera Ayres¹,Drummond-Borg Margaret¹⁷,Melaragno Maria Isabel¹^ORCID,Reymond Alexandre²

Affiliation:

1. Genetics Division, Department of Morphology and Genetics; Universidade Federal de São Paulo; São Paulo Brazil

2. Center for Integrative Genomics; University of Lausanne; Lausanne Switzerland

3. Department of Genetic Medicine and Development; University of Geneva Medical School; Geneva Switzerland

4. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas

5. Clinique de Génétique; CHU Lille - Hôpital Jeanne de Flandre; Lille France

6. Psychobiology Department; Universidade Federal de São Paulo; São Paulo Brazil

7. Department of Pathology, Laboratório de Citogenômica, LIM 03; Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo; São Paulo Brazil

8. Universitätsklinikum Jena; Institut für Humangenetik; Jena Germany

9. Sheffield Clinical Genetics Service; Sheffield Children's Hospital; Sheffield United Kingdom

10. Genomic Informatics Group; University Hospital Southampton; Southampton United Kingdom

11. Southampton Children's Hospital; University Hospital Southampton; Southampton United Kingdom

12. Illumina Clinical Services Laboratory; San Diego California

13. Department of Pediatrics; Section of Genetics, Medical College of Wisconsin; Milwaukee Wisconsin

14. Institut de Génétique Médicale; CHU Lille - Hôpital Jeanne de Flandre; Lille France

15. Developmental Biology Division, Department of Morphology and Genetics; Universidade Federal de São Paulo; São Paulo Brazil

16. Department of Pharmacology; Universidade Federal de São Paulo; São Paulo Brazil

17. Cook Children's Genetic Clinic; Fort Worth Texas

Funder

Fundação de Amparo à Pesquisa do Estado de São Paulo

Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

Lithuanian-Swiss Cooperation Program

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23373/fullpdf

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3. AMMECR1: A single point mutation causes developmental delay, midface hypoplasia and elliptocytosis;Andreoletti;Journal of Medical Genetics,2016

4. The RAGNYA fold: A novel fold with multiple topological variants found in functionally diverse nucleic acid, nucleotide and peptide-binding proteins;Balaji;Nucleic Acids Research,2007

5. X-linked elliptocytosis with impaired growth is related to mutated AMMECR1;Basel-Vanagaite;Gene,2017

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