Literature DB >> 17881640

Why the disorder induced by GATA1 Arg216Gln mutation should be called "X-linked thrombocytopenia with thalassemia" rather than "X-linked gray platelet syndrome".

Carlo L Balduini, Erica De Candia, Anna Savoia.   

Abstract

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Year:  2007        PMID： 17881640      PMCID： PMC1988927          DOI： 10.1182/blood-2007-03-080978

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


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  1 in total

Review 1.  X-linked clonality testing: interpretation and limitations.

Authors:  George L Chen; Josef T Prchal
Journal:  Blood       Date:  2007-04-13       Impact factor: 22.113
  1 in total
  6 in total

1.  Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly.

Authors:  Shay Fabbro; Walter H A Kahr; Jesse Hinckley; Kai Wang; Jack Moseley; Gi-Yung Ryu; Brie Nixon; James G White; Thomas Bair; Brian Schutte; Jorge Di Paola
Journal:  Blood       Date:  2011-01-24       Impact factor: 22.113

2.  Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p.

Authors:  Meral Gunay-Aygun; Yifat Zivony-Elboum; Fatma Gumruk; Dan Geiger; Mualla Cetin; Morad Khayat; Robert Kleta; Nehama Kfir; Yair Anikster; Judith Chezar; Mauricio Arcos-Burgos; Adel Shalata; Horia Stanescu; Joseph Manaster; Mutlu Arat; Hailey Edwards; Andrew S Freiberg; P Suzanne Hart; Lauren C Riney; Katherine Patzel; Pranoot Tanpaiboon; Tom Markello; Marjan Huizing; Irina Maric; McDonald Horne; Beate E Kehrel; Kerstin Jurk; Nancy F Hansen; Praveen F Cherukuri; Marypat Jones; Pedro Cruz; Jim C Mullikin; Alan Nurden; James G White; William A Gahl; Tzippora Falik-Zaccai
Journal:  Blood       Date:  2010-08-13       Impact factor: 22.113

Review 3.  Inherited platelet dysfunction and hematopoietic transcription factor mutations.

Authors:  Natthapol Songdej; A Koneti Rao
Journal:  Platelets       Date:  2016-07-27       Impact factor: 3.862

4.  Human phenotypes associated with GATA-1 mutations.

Authors:  Wendy A Ciovacco; Wendy H Raskind; Melissa A Kacena
Journal:  Gene       Date:  2008-09-30       Impact factor: 3.688

5.  The transcription factor GATA1 regulates NBEAL2 expression through a long-distance enhancer.

Authors:  Anouck Wijgaerts; Christine Wittevrongel; Chantal Thys; Timothy Devos; Kathelijne Peerlinck; Marloes R Tijssen; Chris Van Geet; Kathleen Freson
Journal:  Haematologica       Date:  2017-01-12       Impact factor: 9.941

6.  Novel GATA1 Variant Causing a Bleeding Phenotype Associated with Combined Platelet α-/δ-Storage Pool Deficiency and Mild Dyserythropoiesis Modified by a SLC4A1 Variant.

Authors:  Kerstin Jurk; Anke Adenaeuer; Stefanie Sollfrank; Kathrin Groß; Friederike Häuser; Andreas Czwalinna; Josef Erkel; Nele Fritsch; Dana Marandiuc; Martin Schaller; Karl J Lackner; Heidi Rossmann; Frauke Bergmann
Journal:  Cells       Date:  2022-09-29       Impact factor: 7.666
  6 in total

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