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Literature DB >> 30213830

Somatic reversion events point towards RPL4 as a novel disease gene in a condition resembling Diamond-Blackfan anemia.

Marjolijn C J Jongmans^1,2,3, Illja J Diets⁴, Paola Quarello⁵, Emanuela Garelli⁶, Roland P Kuiper³, Rolph Pfundt⁴.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2018 PMID： 30213830 PMCID： PMC6269308 DOI： 10.3324/haematol.2018.200683

Source DB: PubMed Journal: Haematologica ISSN： 0390-6078 Impact factor: 9.941

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13 in total

1. Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

Authors: Marjolijn C J Jongmans; Eugene T P Verwiel; Yvonne Heijdra; Tom Vulliamy; Eveline J Kamping; Jayne Y Hehir-Kwa; Ernie M H F Bongers; Rolph Pfundt; Liesbeth van Emst; Frank N van Leeuwen; Koen L I van Gassen; Ad Geurts van Kessel; Inderjeet Dokal; Nicoline Hoogerbrugge; Marjolijn J L Ligtenberg; Roland P Kuiper
Journal: Am J Hum Genet Date: 2012-02-16 Impact factor: 11.025

2. Diamond-blackfan anemia and growth status: the French registry.

Authors: S Chen; J Warszawski; B Bader-Meunier; G Tchernia; L Da Costa; I Marie; J P Dommergues
Journal: J Pediatr Date: 2005-11 Impact factor: 4.406

3. Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation.

Authors: Lisa Mirabello; Payal P Khincha; Steven R Ellis; Neelam Giri; Seth Brodie; Settara C Chandrasekharappa; Frank X Donovan; Weiyin Zhou; Belynda D Hicks; Joseph F Boland; Meredith Yeager; Kristine Jones; Bin Zhu; Mingyi Wang; Blanche P Alter; Sharon A Savage
Journal: J Med Genet Date: 2017-03-09 Impact factor: 6.318

4. Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan anemia patient.

Authors: Parvathy Venugopal; Sarah Moore; David M Lawrence; Amee J George; Ross D Hannan; Sarah Ce Bray; Luen Bik To; Richard J D'Andrea; Jinghua Feng; Amanda Tirimacco; Alexandra L Yeoman; Chun Chun Young; Miriam Fine; Andreas W Schreiber; Christopher N Hahn; Christopher Barnett; Ben Saxon; Hamish S Scott
Journal: Haematologica Date: 2017-09-29 Impact factor: 9.941

5. Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.

Authors: Leana Doherty; Mee Rie Sheen; Adrianna Vlachos; Valerie Choesmel; Marie-Françoise O'Donohue; Catherine Clinton; Hal E Schneider; Colin A Sieff; Peter E Newburger; Sarah E Ball; Edyta Niewiadomska; Michal Matysiak; Bertil Glader; Robert J Arceci; Jason E Farrar; Eva Atsidaftos; Jeffrey M Lipton; Pierre-Emmanuel Gleizes; Hanna T Gazda
Journal: Am J Hum Genet Date: 2010-01-28 Impact factor: 11.025

6. Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.

Authors: Bianca Tesi; Josef Davidsson; Matthias Voss; Elisa Rahikkala; Tim D Holmes; Samuel C C Chiang; Jonna Komulainen-Ebrahim; Sorina Gorcenco; Alexandra Rundberg Nilsson; Tim Ripperger; Hannaleena Kokkonen; David Bryder; Thoas Fioretos; Jan-Inge Henter; Merja Möttönen; Riitta Niinimäki; Lars Nilsson; Cornelis Jan Pronk; Andreas Puschmann; Hong Qian; Johanna Uusimaa; Jukka Moilanen; Ulf Tedgård; Jörg Cammenga; Yenan T Bryceson
Journal: Blood Date: 2017-02-15 Impact factor: 22.113

7. Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10.

Authors: Keith A Choate; Yin Lu; Jing Zhou; Murim Choi; Peter M Elias; Anita Farhi; Carol Nelson-Williams; Debra Crumrine; Mary L Williams; Amy J Nopper; Alanna Bree; Leonard M Milstone; Richard P Lifton
Journal: Science Date: 2010-08-26 Impact factor: 47.728

8. Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia.

Authors: Paola Quarello; Emanuela Garelli; Adriana Carando; Cecilia Mancini; Luiselda Foglia; Carlotta Botto; Piero Farruggia; Kim De Keersmaecker; Anna Aspesi; Steve R Ellis; Irma Dianzani; Ugo Ramenghi
Journal: Br J Haematol Date: 2016-01-13 Impact factor: 6.998

9. Spontaneous functional correction of homozygous fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism.

Authors: Q Waisfisz; N V Morgan; M Savino; J P de Winter; C G van Berkel; M E Hoatlin; L Ianzano; R A Gibson; F Arwert; A Savoia; C G Mathew; J C Pronk; H Joenje
Journal: Nat Genet Date: 1999-08 Impact factor: 38.330

10. Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations.

Authors: Edoardo Errichiello; Annalisa Vetro; Tommaso Mina; Anita Wischmeijer; Enrico Berrino; Miriam Carella; Maria Romagnoli; Patrizia Sacchini; Tiziana Venesio; Marco Zecca; Orsetta Zuffardi
Journal: Blood Cells Mol Dis Date: 2017-03-06 Impact factor: 3.039

8 in total

Review 1. Somatic mosaicism in inherited bone marrow failure syndromes.

Authors: Fernanda Gutierrez-Rodrigues; Sushree S Sahoo; Marcin W Wlodarski; Neal S Young
Journal: Best Pract Res Clin Haematol Date: 2021-06-27 Impact factor: 3.670

2. Dedicated chaperones coordinate co-translational regulation of ribosomal protein production with ribosome assembly to preserve proteostasis.

Authors: Alfonso Méndez-Godoy; Guillaume Murat; Benjamin Pillet; Sébastien Favre; Michael Stumpe; Laurent Falquet; Dieter Kressler
Journal: Elife Date: 2022-03-31 Impact factor: 8.713

3. Studies of a mosaic patient with DBA and chimeric mice reveal erythroid cell-extrinsic contributions to erythropoiesis.

Authors: Raymond T Doty; Xing Fan; David J Young; Jialiu Liang; Komudi Singh; Zahra Pakbaz; Ronan Desmond; Sara K Young-Baird; Settara C Chandrasekharappa; Frank X Donovan; Susan R Phelps; Thomas Winkler; Cynthia E Dunbar; Janis L Abkowitz
Journal: Blood Date: 2022-06-09 Impact factor: 25.476

Review 4. Emerging mechanisms of cell competition.

Authors: Nicholas E Baker
Journal: Nat Rev Genet Date: 2020-08-10 Impact factor: 53.242

Review 5. Somatic genetic rescue in Mendelian haematopoietic diseases.

Authors: Patrick Revy; Caroline Kannengiesser; Alain Fischer
Journal: Nat Rev Genet Date: 2019-06-11 Impact factor: 53.242

Review 6. Lessons From Pediatric MDS: Approaches to Germline Predisposition to Hematologic Malignancies.

Authors: Serine Avagyan; Akiko Shimamura
Journal: Front Oncol Date: 2022-03-09 Impact factor: 6.244

7. A new murine Rpl5 (uL18) mutation provides a unique model of variably penetrant Diamond-Blackfan anemia.

Authors: Lei Yu; Philippe Lemay; Alexander Ludlow; Marie-Claude Guyot; Morgan Jones; Fatma F Mohamed; Ghazi-Abdullah Saroya; Christopher Panaretos; Emily Schneider; Yu Wang; Greggory Myers; Rami Khoriaty; Qing Li; Renny Franceschi; James Douglas Engel; Vesa Kaartinen; Thomas L Rothstein; Monica J Justice; Zoha Kibar; Sharon A Singh
Journal: Blood Adv Date: 2021-10-26

8. Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism.

Authors: Marco Lezzerini; Marianna Penzo; Marie-Françoise O'Donohue; Carolina Marques Dos Santos Vieira; Manon Saby; Hyung L Elfrink; Illja J Diets; Anne-Marie Hesse; Yohann Couté; Marc Gastou; Alexandra Nin-Velez; Peter G J Nikkels; Alexandra N Olson; Evelien Zonneveld-Huijssoon; Marjolijn C J Jongmans; GuangJun Zhang; Michel van Weeghel; Riekelt H Houtkooper; Marcin W Wlodarski; Roland P Kuiper; Marc B Bierings; Jutte van der Werff Ten Bosch; Thierry Leblanc; Lorenzo Montanaro; Jonathan D Dinman; Lydie Da Costa; Pierre-Emmanuel Gleizes; Alyson W MacInnes
Journal: Nucleic Acids Res Date: 2020-01-24 Impact factor: 16.971

8 in total