Literature DB >> 35941211

Germline GATA1 exon 2 mutation associated with chronic cytopenia and a non-down syndrome transient abnormal myelopoiesis with clonal trisomy 21.

Ricardo Camargo1, Sushree S Sahoo2, José Carlos Córdoba1, Isis Quezado Magalhães3.   

Abstract

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Year:  2022        PMID： 35941211     DOI： 10.1038/s41375-022-01638-6

Source DB:  PubMed          Journal:  Leukemia        ISSN： 0887-6924            Impact factor:   12.883


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  14 in total

1.  Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1.

Authors:  K E Nichols; J D Crispino; M Poncz; J G White; S H Orkin; J M Maris; M J Weiss
Journal:  Nat Genet       Date:  2000-03       Impact factor: 38.330

2.  Clinical, cytogenetic, and molecular analyses of 17 neonates with transient abnormal myelopoiesis and nonconstitutional trisomy 21.

Authors:  Kentaro Yuzawa; Kiminori Terui; Tsutomu Toki; Rika Kanezaki; Akie Kobayashi; Tomohiko Sato; Takuya Kamio; Ko Kudo; Shinya Sasaki; Mikiya Endo; Shuichi Ozono; Keiko Nomura; Etsuro Ito
Journal:  Pediatr Blood Cancer       Date:  2020-02-05       Impact factor: 3.167

3.  Transient neonatal myeloproliferative disorder without Down syndrome and detection of GATA1 mutation.

Authors:  Isis Quezado Magalhães; Alessandra Splendore; Mariana Emerenciano; Mara Santos Córdoba; Jose Carlos Córdoba; Paula Azevedo Allemand; Iris Ferrari; Maria S Pombo-de-Oliveira
Journal:  J Pediatr Hematol Oncol       Date:  2005-01       Impact factor: 1.289

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.  An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired erythropoiesis.

Authors:  Luciana M Hollanda; Carmen S P Lima; Anderson F Cunha; Dulcinéia M Albuquerque; José Vassallo; Margareth C Ozelo; Paulo P Joazeiro; Sara T O Saad; Fernando F Costa
Journal:  Nat Genet       Date:  2006-06-18       Impact factor: 38.330

6.  X-linked thrombocytopenia caused by a novel mutation of GATA-1.

Authors:  M G Mehaffey; A L Newton; M J Gandhi; M Crossley; J G Drachman
Journal:  Blood       Date:  2001-11-01       Impact factor: 22.113

Review 7.  GATA factor mutations in hematologic disease.

Authors:  John D Crispino; Marshall S Horwitz
Journal:  Blood       Date:  2017-02-08       Impact factor: 22.113

8.  Mutations in exon 2 of GATA1 are early events in megakaryocytic malignancies associated with trisomy 21.

Authors:  Liat Rainis; Dan Bercovich; Sabine Strehl; Andrea Teigler-Schlegel; Batia Stark; Jan Trka; Ninette Amariglio; Andrea Biondi; Inna Muler; Gideon Rechavi; Helena Kempski; Oskar A Haas; Shai Izraeli
Journal:  Blood       Date:  2003-03-20       Impact factor: 22.113

9.  X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction.

Authors:  Channing Yu; Kathy K Niakan; Mark Matsushita; George Stamatoyannopoulos; Stuart H Orkin; Wendy H Raskind
Journal:  Blood       Date:  2002-09-15       Impact factor: 22.113

10.  Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype.

Authors:  Sara Parrella; Anna Aspesi; Paola Quarello; Emanuela Garelli; Elisa Pavesi; Adriana Carando; Margherita Nardi; Steven R Ellis; Ugo Ramenghi; Irma Dianzani
Journal:  Pediatr Blood Cancer       Date:  2014-01-22       Impact factor: 3.167
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