Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations-Reference-Cited by-同舟云学术

Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations

Published:2015-03 Issue:3 Volume:36 Page:357-368
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Caciotti Anna¹,Tonin Rodolfo¹²,Rigoldi Miriam³,Ferri Lorenzo¹²,Catarzi Serena¹,Cavicchi Catia¹,Procopio Elena⁴,Donati Maria Alice⁴,Ficcadenti Anna⁵,Fiumara Agata⁶,Barone Rita⁶,Garavelli Livia⁷,Rocco Maja Di⁸,Filocamo Mirella⁹,Antuzzi Daniela¹⁰,Scarpa Maurizio¹¹,Mooney Sean D.¹²,Li Biao¹²,Skouma Anastasia¹³,Bianca Sebastiano¹⁴,Concolino Daniela¹⁵,Casalone Rosario¹⁶,Monti Elena¹⁷¹⁸,Pantaleo Marilena¹⁹,Giglio Sabrina¹⁹,Guerrini Renzo¹²,Parini Rossella³,Morrone Amelia¹²

Affiliation:

1. Molecular and Cell Biology Laboratory; Paediatric Neurology Unit and Laboratories; Neuroscience Department; A. Meyer Children's Hospital; Florence Italy

2. Department of Neurosciences; Psychology; Pharmacology and Child Health; University of Florence; Italy

3. Rare Metabolic Diseases Unit; Department of Pediatrics; Fondazione MBBM; San Gerardo Hospital; Monza Italy

4. Metabolic Disorders Unit; Neuroscience Department; A. Meyer Children's Hospital; Firenze Italy

5. Department of Pediatrics, Salesi Children Hospital; Ancona Italy

6. Department of Pediatrics; Regional Referral Centre for Inborn Errors Metabolism; University Hospital “Policlinico-Vittorio Emanuele”; Catania Italy

7. Clinical Genetics Unit; S. Maria Nuova Hospital Reggio; Emilia Italy

8. U.O. Pediatria II; Istituto G. Gaslini; Genoa Italy

9. Laboratorio Diagnosi Pre-Postnatale Malattie Metaboliche Genoa; Istituto G. Gaslini; Genoa Italy

10. Department of Pediatric Sciences; Catholic University; Rome Italy

11. Department of Pediatrics; University Children's Hospital; Padova Italy

12. Buck Institute for Research on Aging; Bioinformatics; Novato California

13. Department of Pediatrics; Choremio Research Laboratory; Laboratory of Metabolic Diseases; Athens University; Medical School; Athens Greece

14. Genetic Center, AO Garibaldi-Nesima; Catania Italy

15. Department of Pediatrics; University "Magna Graecia"; Catanzaro Italy

16. Cytogenetics Laboratory and Medical Genetics Unit; SSD, SMEL; Ospedale di Circolo and Macchi Foundation; Varese Italy

17. William Harvey Research Institute; Centre for Endocrinology; Queen Mary's School of Medicine and Dentistry; Barts and The London London UK

18. Department of Life and Reproduction Sciences; Pediatric Clinic; University of Verona; Verona Italy

19. Medical Genetics Unit; Pediatric Hospital A. Meyer; Florence Italy

Funder

BioMarin Pharmaceutical Inc.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22751/fullpdf

Reference59 articles.

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2. Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1;Andolfo;Blood,2013

3. Xerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1;Bae;Proc Natl Acad Sci USA,2013

4. The morquio Asyndrome (mucopolysaccharidosis IVA) gene maps to 16q24.3;Baker;Am J Hum Genet,1993

5. Utility of the housekeeping genes 18S rRNA, beta-actin and glyceraldehyde-3-phosphate-dehydrogenase for normalization in real-time quantitative reverse transcriptase-polymerase chain reaction analysis of gene expression in human Tlymphocytes;Bas;Scand J Immunol,2004

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