Literature DB >> 28550189

GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of congenital dyserythropoietic anemia type II.

Roberta Russo1,2, Immacolata Andolfo3,2, Antonella Gambale3,2, Gianluca De Rosa3,2, Francesco Manna3,2, Alessandra Arillo2, Farooq Wandroo4, Maria Grazia Bisconte5, Achille Iolascon3,2.   

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Year:  2017        PMID： 28550189      PMCID： PMC5685218          DOI： 10.3324/haematol.2016.162966

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


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  15 in total

1.  HSP70 sequestration by free α-globin promotes ineffective erythropoiesis in β-thalassaemia.

Authors:  Jean-Benoît Arlet; Jean-Antoine Ribeil; Flavia Guillem; Olivier Negre; Adonis Hazoume; Guillaume Marcion; Yves Beuzard; Michaël Dussiot; Ivan Cruz Moura; Samuel Demarest; Isaure Chauvot de Beauchêne; Zakia Belaid-Choucair; Margaux Sevin; Thiago Trovati Maciel; Christian Auclair; Philippe Leboulch; Stany Chretien; Luba Tchertanov; Véronique Baudin-Creuza; Renaud Seigneuric; Michaela Fontenay; Carmen Garrido; Olivier Hermine; Geneviève Courtois
Journal:  Nature       Date:  2014-08-24       Impact factor: 49.962

2.  Digenic inheritance and Mendelian disease.

Authors:  James R Lupski
Journal:  Nat Genet       Date:  2012-12       Impact factor: 38.330

3.  Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype-phenotype correlations.

Authors:  Paola Bianchi; Klaus Schwarz; Josef Högel; Elisa Fermo; Cristina Vercellati; Regine Grosse; Richard van Wijk; Rob van Zwieten; Wilma Barcellini; Alberto Zanella; Hermann Heimpel
Journal:  Br J Haematol       Date:  2016-07-29       Impact factor: 6.998

4.  Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.

Authors:  Vijay G Sankaran; Roxanne Ghazvinian; Ron Do; Prathapan Thiru; Jo-Anne Vergilio; Alan H Beggs; Colin A Sieff; Stuart H Orkin; David G Nathan; Eric S Lander; Hanna T Gazda
Journal:  J Clin Invest       Date:  2012-06-18       Impact factor: 14.808

5.  Dyserythropoietic anemia and thrombocytopenia due to a novel mutation in GATA-1.

Authors:  Giovanni Carlo Del Vecchio; Lucia Giordani; Attilio De Santis; Domenico De Mattia
Journal:  Acta Haematol       Date:  2005       Impact factor: 2.195

Review 6.  Diagnosis and management of congenital dyserythropoietic anemias.

Authors:  Antonella Gambale; Achille Iolascon; Immacolata Andolfo; Roberta Russo
Journal:  Expert Rev Hematol       Date:  2016-01-06       Impact factor: 2.929

7.  Increased levels of ERFE-encoding FAM132B in patients with congenital dyserythropoietic anemia type II.

Authors:  Roberta Russo; Immacolata Andolfo; Francesco Manna; Gianluca De Rosa; Luigia De Falco; Antonella Gambale; Mariasole Bruno; Alessandro Mattè; Paolo Ricchi; Domenico Girelli; Lucia De Franceschi; Achille Iolascon
Journal:  Blood       Date:  2016-08-18       Impact factor: 22.113

8.  Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis.

Authors:  Elena Di Pierro; Roberta Russo; Zeynep Karakas; Valentina Brancaleoni; Antonella Gambale; Ismail Kurt; S Stuart Winter; Francesca Granata; David Rodriguez Czuchlewski; Concetta Langella; Achille Iolascon; Maria Domenica Cappellini
Journal:  Eur J Haematol       Date:  2014-10-25       Impact factor: 2.997

9.  Altered translation of GATA1 in Diamond-Blackfan anemia.

Authors:  Leif S Ludwig; Hanna T Gazda; Jennifer C Eng; Stephen W Eichhorn; Prathapan Thiru; Roxanne Ghazvinian; Tracy I George; Jason R Gotlib; Alan H Beggs; Colin A Sieff; Harvey F Lodish; Eric S Lander; Vijay G Sankaran
Journal:  Nat Med       Date:  2014-06-22       Impact factor: 53.440

Review 10.  GATA family transcriptional factors: emerging suspects in hematologic disorders.

Authors:  Juehua Gao; Yi-Hua Chen; LoAnn C Peterson
Journal:  Exp Hematol Oncol       Date:  2015-10-06
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  6 in total

1.  PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis.

Authors:  Immacolata Andolfo; Francesco Manna; Gianluca De Rosa; Barbara Eleni Rosato; Antonella Gambale; Giovanna Tomaiuolo; Antonio Carciati; Roberta Marra; Lucia De Franceschi; Achille Iolascon; Roberta Russo
Journal:  Haematologica       Date:  2017-11-30       Impact factor: 9.941

2.  Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein.

Authors:  Roberta Russo; Roberta Marra; Immacolata Andolfo; Gianluca De Rosa; Barbara Eleni Rosato; Francesco Manna; Antonella Gambale; Maddalena Raia; Sule Unal; Susanna Barella; Achille Iolascon
Journal:  Front Physiol       Date:  2019-05-22       Impact factor: 4.566

Review 3.  Genetics and Genomics Approaches for Diagnosis and Research Into Hereditary Anemias.

Authors:  Roberta Russo; Roberta Marra; Barbara Eleni Rosato; Achille Iolascon; Immacolata Andolfo
Journal:  Front Physiol       Date:  2020-12-22       Impact factor: 4.566

4.  RAP-011 Rescues the Disease Phenotype in a Cellular Model of Congenital Dyserythropoietic Anemia Type II by Inhibiting the SMAD2-3 Pathway.

Authors:  Gianluca De Rosa; Immacolata Andolfo; Roberta Marra; Francesco Manna; Barbara Eleni Rosato; Achille Iolascon; Roberta Russo
Journal:  Int J Mol Sci       Date:  2020-08-04       Impact factor: 5.923

5.  GATA-1 Defects in Diamond-Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease.

Authors:  Birgit van Dooijeweert; Sima Kheradmand Kia; Niklas Dahl; Odile Fenneteau; Roos Leguit; Edward Nieuwenhuis; Wouter van Solinge; Richard van Wijk; Lydie Da Costa; Marije Bartels
Journal:  Genes (Basel)       Date:  2022-02-28       Impact factor: 4.096

Review 6.  Epigenetic and Transcriptional Control of Erythropoiesis.

Authors:  Maeve Wells; Laurie Steiner
Journal:  Front Genet       Date:  2022-03-07       Impact factor: 4.599
  6 in total

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