Condition: Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis


rs104894808 in GATA1 gene and Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis PMID 11809723 2002 Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation.

PMID 12200364 2002 X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction.

PMID 15701726 2005 Selective impairment of platelet activation to collagen in the absence of GATA1.

PMID 17209061 2007 X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation.

PMID 2200364 1990 Paraplegia associated with the use of oxidized cellulose in posterolateral thoracotomy incisions.

PMID 871527 1977 X-linked syndrome of platelet dysfunction, thrombocytopenia, and imbalanced globin chain synthesis with hemolysis.

PMID 14691578 2004 Effects of the R216Q mutation of GATA-1 on erythropoiesis and megakaryocytopoiesis.

PMID 10733494 2000 Mapping of a syndrome of X-linked thrombocytopenia with Thalassemia to band Xp11-12: further evidence of genetic heterogeneity of X-linked thrombocytopenia.

PMID 23704091 2013 Analysis of disease-causing GATA1 mutations in murine gene complementation systems.

PMID 10700180 2000 Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1.

PMID 18041654 2007 Platelet pathology in carriers of the X-linked GATA-1 macrothrombocytopenia.

PMID 17763153 2007 Platelet pathology in sex-linked GATA-1 dyserythropoietic macrothrombocytopenia II. Cytochemistry.

PMID 11418466 2001 Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation.

PMID 11675338 2001 X-linked thrombocytopenia caused by a novel mutation of GATA-1.

PMID 3521939 1986 The porphyrias: recent advances.

PMID 17148589 2007 Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria.

PMID 19268002 2009 Congenital erythropoietic porphyria: mutation update and correlations between genotype and phenotype.

PMID 24453067 2014 Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype.

PMID 22706301 2012 Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.

PMID 16103636 2005 Dyserythropoietic anemia and thrombocytopenia due to a novel mutation in GATA-1.

PMID 17713552 2008 Congenital transfusion-dependent anemia and thrombocytopenia with myelodysplasia due to a recurrent GATA1(G208R) germline mutation.

PMID 16783379 2006 An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired erythropoiesis.

PMID 23278136 2013 A novel GATA1 mutation (Stop414Arg) in a family with the rare X-linked blood group Lu(a-b-) phenotype and mild macrothrombocytic thrombocytopenia.