Literature DB >> 28971907

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

Parvathy Venugopal1,2,3, Sarah Moore1, David M Lawrence3,4, Amee J George5,6,7, Ross D Hannan5,6,7,8,9,10, Sarah Ce Bray2,11, Luen Bik To11,12, Richard J D'Andrea2,12,13, Jinghua Feng4,13, Amanda Tirimacco1, Alexandra L Yeoman1, Chun Chun Young1, Miriam Fine14, Andreas W Schreiber3,4,13, Christopher N Hahn1,2,11,13, Christopher Barnett11,14, Ben Saxon11,15, Hamish S Scott16,2,3,11,13.   

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Year:  2017        PMID： 28971907      PMCID： PMC5709125          DOI： 10.3324/haematol.2017.166678

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.  Realm of revertant mosaicism expanding.

Authors:  Marcel F Jonkman; Anna M G Pasmooij
Journal:  J Invest Dermatol       Date:  2012-03       Impact factor: 8.551

3.  Myeloid lineage-selective growth of revertant cells in Fanconi anaemia.

Authors:  Satoshi Hamanoue; Hiroshi Yagasaki; Toshihisa Tsuruta; Tsukasa Oda; Hiromasa Yabe; Miharu Yabe; Takayuki Yamashita
Journal:  Br J Haematol       Date:  2006-03       Impact factor: 6.998

Review 4.  Alu repeats and human disease.

Authors:  P L Deininger; M A Batzer
Journal:  Mol Genet Metab       Date:  1999-07       Impact factor: 4.797

5.  Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry.

Authors:  Kasiani C Myers; Audrey Anna Bolyard; Barbara Otto; Trisha E Wong; Amanda T Jones; Richard E Harris; Stella M Davies; David C Dale; Akiko Shimamura
Journal:  J Pediatr       Date:  2013-12-31       Impact factor: 4.406

6.  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

7.  Ribosomal protein gene deletions in Diamond-Blackfan anemia.

Authors:  Jason E Farrar; Adrianna Vlachos; Eva Atsidaftos; Hannah Carlson-Donohoe; Thomas C Markello; Robert J Arceci; Steven R Ellis; Jeffrey M Lipton; David M Bodine
Journal:  Blood       Date:  2011-11-01       Impact factor: 22.113

Review 8.  How I treat Diamond-Blackfan anemia.

Authors:  Adrianna Vlachos; Ellen Muir
Journal:  Blood       Date:  2010-07-22       Impact factor: 22.113

Review 9.  Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disorders.

Authors:  Paul A Trainor; Amy E Merrill
Journal:  Biochim Biophys Acta       Date:  2013-11-16

10.  Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.

Authors:  Hanna T Gazda; Mee Rie Sheen; Adrianna Vlachos; Valerie Choesmel; Marie-Françoise O'Donohue; Hal Schneider; Natasha Darras; Catherine Hasman; Colin A Sieff; Peter E Newburger; Sarah E Ball; Edyta Niewiadomska; Michal Matysiak; Jan M Zaucha; Bertil Glader; Charlotte Niemeyer; Joerg J Meerpohl; Eva Atsidaftos; Jeffrey M Lipton; Pierre-Emmanuel Gleizes; Alan H Beggs
Journal:  Am J Hum Genet       Date:  2008-12       Impact factor: 11.025
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  10 in total

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

Authors:  Marjolijn C J Jongmans; Illja J Diets; Paola Quarello; Emanuela Garelli; Roland P Kuiper; Rolph Pfundt
Journal:  Haematologica       Date:  2018-09-13       Impact factor: 9.941

Review 2.  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

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.  Primary Immunodeficiency and Cancer Predisposition Revisited: Embedding Two Closely Related Concepts Into an Integrative Conceptual Framework.

Authors:  Oskar A Haas
Journal:  Front Immunol       Date:  2019-02-12       Impact factor: 7.561

Review 7.  How I manage children with Diamond-Blackfan anaemia.

Authors:  Marije Bartels; Marc Bierings
Journal:  Br J Haematol       Date:  2018-12-04       Impact factor: 6.998

Review 8.  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

9.  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

10.  Mosaicism in Fanconi anemia: concise review and evaluation of published cases with focus on clinical course of blood count normalization.

Authors:  Eileen Nicoletti; Gayatri Rao; Juan A Bueren; Paula Río; Susana Navarro; Jordi Surrallés; Grace Choi; Jonathan D Schwartz
Journal:  Ann Hematol       Date:  2020-02-17       Impact factor: 3.673
  10 in total

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