Associated Papers
Advancing Cancer Care in Colombia: Results of the First In Situ Implementation of Comprehensive Genomic Profiling.
López Rivera JJ et al.
Journal of Personalized Medicine, 2024
Congenital erythropoietic porphyria.
To-Figueras J et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2024
Congenital Erythropoietic Porphyria: A Rare Inherited Disorder.
Saikrishna P et al.
Cureus, 2024
GATA1 in Normal and Pathologic Megakaryopoiesis and Platelet Development.
Takasaki K et al.
Advances in Experimental Medicine and Biology, 2024
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.
Marconi C et al.
Haematologica, 2023
A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger.
Bastida JM et al.
Cells, 2022
Somatic Mutational Landscape in Mexican Patients: CDH1 Mutations and chr20q13.33 Amplifications Are Associated with Diffuse-Type Gastric Adenocarcinoma.
Cerrato-Izaguirre D et al.
International Journal of Molecular Sciences, 2022
The polymorphic landscape analysis of GATA1 exons uncovered the genetic variants associated with higher thrombocytopenia in dengue patients.
Al Rimon R et al.
Plos Neglected Tropical Diseases, 2022
GATA1 pathogenic variants disrupt MYH10 silencing during megakaryopoiesis.
Saultier P et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
Phenotypic and genetic heterogeneity arising from a novel substitution at amino acid position Val205 in GATA1 related X-linked thrombocytopenia with dyserythropoietic anemia.
Jamwal M et al.
Blood Cells, Molecules & Diseases, 2020
Quantitative and qualitative impairments in GATA2 and myeloid neoplasms.
Shimizu R et al.
Iubmb Life, 2020
Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.
Weiss Y et al.
Molecular Genetics and Metabolism, 2019
Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.
Yasuda M et al.
Molecular Genetics and Metabolism, 2019
Congenital erythropoietic porphyria: Recent advances.
Erwin AL et al.
Molecular Genetics and Metabolism, 2019
Fetal cerebral hemorrhage due to X-linked GATA1 gene mutation.
Bouchghoul H et al.
Prenatal Diagnosis, 2018
Systematic target function annotation of human transcription factors.
Li YF et al.
Bmc Biology, 2018
GATA1 gene variants associated with thrombocytopenia and anemia.
Freson K et al.
Platelets, 2017
GATA Transcription Factors: Basic Principles and Related Human Disorders.
Fujiwara T
The Tohoku Journal of Experimental Medicine, 2017
Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition.
Blouin JM et al.
Human Molecular Genetics, 2017
Study on Hydroxyurea Response in Hemoglobinopathies Patients Using Genetic Markers and Liquid Erythroid Cultures.
Sclafani S et al.
Hematology Reports, 2016
Advances in understanding the pathogenesis of congenital erythropoietic porphyria.
Di Pierro E et al.
British Journal of Haematology, 2016
Successful hematopoietic stem cell transplantation in a child with congenital erythropoietic porphyria due to a mutation in GATA-1.
Karakurt N et al.
Pediatric Transplantation, 2015
Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis.
Di Pierro E et al.
European Journal of Haematology, 2015
High-depth sequencing of over 750 genes supports linear progression of primary tumors and metastases in most patients with liver-limited metastatic colorectal cancer.
Tan IB et al.
Genome Biology, 2015
GATA family transcriptional factors: emerging suspects in hematologic disorders.
Gao J et al.
Experimental Hematology & Oncology, 2015
Novel GATA1 mutation in residue D218 leads to macrothrombocytopenia and clinical bleeding problems.
Hermans C et al.
Platelets, 2014
Analysis of disease-causing GATA1 mutations in murine gene complementation systems.
Campbell AE et al.
Blood, 2013
A novel GATA1 mutation (Stop414Arg) in a family with the rare X-linked blood group Lu(a-b-) phenotype and mild macrothrombocytic thrombocytopenia.
Singleton BK et al.
British Journal of Haematology, 2013
Genetics of familial forms of thrombocytopenia.
Balduini CL et al.
Human Genetics, 2012
Blood group phenotypes resulting from mutations in erythroid transcription factors.
Singleton BK et al.
Current Opinion in Hematology, 2012
Insights into GATA-1-mediated gene activation versus repression via genome-wide chromatin occupancy analysis.
Yu M et al.
Molecular Cell, 2009
Congenital transfusion-dependent anemia and thrombocytopenia with myelodysplasia due to a recurrent GATA1(G208R) germline mutation.
Kratz CP et al.
Leukemia, 2008
X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation.
Tubman VN et al.
Blood, 2007
Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria.
Phillips JD et al.
Blood, 2007