A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia-Reference-Cited by-同舟云学术

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A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia

Published:2018-05-28 Issue:8 Volume:39 Page:1102-1111
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Aspesi Anna¹^ORCID,Betti Marta¹,Sculco Marika¹,Actis Chiara¹,Olgasi Cristina¹,Wlodarski Marcin W.²,Vlachos Adrianna³⁴,Lipton Jeffrey M.³⁴,Ramenghi Ugo⁵,Santoro Claudio¹,Follenzi Antonia¹,Ellis Steven R.⁶,Dianzani Irma¹

Affiliation:

1. Department of Health Sciences; Università del Piemonte Orientale; Novara Italy

2. Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine; University of Freiburg; Freiburg Germany

3. Feinstein Institute for Medical Research; Manhasset New York

4. Division of Hematology/Oncology and Stem Cell Transplantation; Cohen Children's Medical Center of New York; New Hyde Park New York

5. Department of Public Health and Pediatric Sciences; University of Torino; Torino Italy

6. Department of Biochemistry and Molecular Genetics; University of Louisville; Louisville Kentucky

Funder

Diamond Blackfan Anemia Foundation

Fondazione Europea per la DBA

Gruppo di Sostegno DBA Italia

Banca del Piemonte

E-RARE EuroDBA Consortium

European Research Council

Fondazione Telethon

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference62 articles.

1. Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome;Angelini;Human Molecular Genetics,2007

2. Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia;Arbiv;Clinical Genetics,2017

3. Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy;Aspesi;Scientific Reports,2017

4. Dissecting the transcriptional phenotype of ribosomal protein deficiency: Implications for Diamond-Blackfan Anemia;Aspesi;Gene,2014

5. Posttranscriptional down-regulation of small ribosomal subunit proteins correlates with reduction of 18S rRNA in RPS19 deficiency;Badhai;FEBS Letters,2009

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1. Unusual Association of Diamond–Blackfan Anemia and Severe Sinus Bradycardia in a Six-Month-Old White Infant: A Case Report and Literature Review;Medicina;2023-02-14

2. Computational Studies of the Structural Basis of Human RPS19 Mutations Associated With Diamond-Blackfan Anemia;Frontiers in Genetics;2021-05-24

3. The role of RNA-binding and ribosomal proteins as specific RNA translation regulators in cellular differentiation and carcinogenesis;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2021-04

4. A 20‐year long term experience of the Italian Diamond‐Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease?;British Journal of Haematology;2020-02-21

5. Fetal hydrops – a review and a clinical approach to identifying the cause;Expert Opinion on Orphan Drugs;2020-02-13

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