Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria.
about
Effective gene therapy of mice with congenital erythropoietic porphyria is facilitated by a survival advantage of corrected erythroid cellsMolecular basis of inherited microcytic anemia due to defects in iron acquisition or heme synthesisGATA family transcriptional factors: emerging suspects in hematologic disordersThe biology of pediatric acute megakaryoblastic leukemiaErythro-megakaryocytic transcription factors associated with hereditary anemiaInsights into GATA-1-mediated gene activation versus repression via genome-wide chromatin occupancy analysisAnalysis of disease-causing GATA1 mutations in murine gene complementation systemsCross-talk of GATA-1 and P-TEFb in megakaryocyte differentiation.Transcriptional control of megakaryocyte development.Human phenotypes associated with GATA-1 mutations.Severe gastrointestinal bleeding and thrombocytopenia in a child with an anti-GATA1 autoantibody.Current Strategies in Diagnosis of Inherited Storage Pool DefectsA management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases.Genetics of familial forms of thrombocytopenia.Concomitant a novel ALAS2 mutation and GATA1 mutation in a newborn: a case report and review of the literature.Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis.GATA factor mutations in hematologic disease.Hans Gunther and his disease.Pleiotropic platelet defects in mice with disrupted FOG1-NuRD interactionN- and C-terminal transactivation domains of GATA1 protein coordinate hematopoietic programReusable, extensible, and modifiable R scripts and Kepler workflows for comprehensive single set ChIP-seq analysis.Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.Normal and malignant megakaryopoiesis.Erythroid and megakaryocytic transformation.Congenital Erythropoietic Porphyria with Undescended Testis.GATA1 Binding Kinetics on Conformation-Specific Binding Sites Elicit Differential Transcriptional Regulation.Novel exon 2 α spectrin mutation and intragenic crossover: three morphological phenotypes associated with four distinct α spectrin defects.Advances in the understanding of haemoglobin switching.Role of genetic testing in the management of patients with inherited porphyria and their families.Advances in understanding the pathogenesis of congenital erythropoietic porphyria.Study on Hydroxyurea Response in Hemoglobinopathies Patients Using Genetic Markers and Liquid Erythroid Cultures.The potential role of cell penetrating peptides in the intracellular delivery of proteins for therapy of erythroid related disorders.Novel GATA1 mutation in residue D218 leads to macrothrombocytopenia and clinical bleeding problems.Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases.Systematic target function annotation of human transcription factors.GATA1 gene variants associated with thrombocytopenia and anemia.A puzzling mutation in congenital erythropoietic porphyria and an association with β-thalassaemia trait
P2860
Q24644026-DABBC471-24B3-4675-B79A-0C94C8003E09Q24646911-1B052827-1401-4A1F-98BE-52851B9D81CEQ26786487-AF59FD11-BDFF-4B28-8FED-7FEA35E40495Q26799478-E0B26C47-AAA5-4897-B717-CC07F80DAC5AQ28236415-3F5D7A52-0506-4378-9199-8A1BAE8C5E65Q28265897-85EEE5D6-2B3F-4A58-A64A-22934799123FQ28291377-1BC0F966-BCBA-41B2-9C03-4415A87B3A86Q30437637-765625E1-D7AE-43F7-8591-1980AE2F1FF6Q30444726-25893E61-BC51-4670-819D-7DDA8C23E8C0Q33381670-D075E8E7-9C65-4F6E-BBBC-8BE463361D8DQ33387092-6ED4FE28-74BF-4047-BB25-88CD4CE1573EQ33393005-1FCD6F86-E85A-468D-A2F4-2F5C71C3FE5AQ33402382-BEE05ED7-0682-4C3B-97C9-2D5D2FAF2791Q33402780-8243DFE1-C0EA-4F19-9968-17449B6704E0Q33417720-488FD43B-4F4F-42E2-87F8-BD64FAF91F06Q33417820-72FBD36F-6325-4158-A895-400434D10A32Q33439175-5F92FFF3-3894-4E46-BB3A-0BAE24543E68Q34710888-67FB177C-177B-4788-8AD7-A8BF8595E635Q35604075-A85BC52D-F902-433A-9AD5-F29C7EA7084FQ36033285-BE5278B1-0109-447C-B639-ADE11FA0C648Q36067801-910B267D-DFA6-4E6E-8768-5642AD474A58Q36267789-247BE52C-42EF-45D0-B255-62F090080ADCQ36909019-C12F2A8D-EF0B-4DE6-BDD2-47F8F5C4D9D3Q36970205-BFD5D098-3B90-43A3-94E8-651FB9A38718Q37138104-43FEE958-64A1-4D79-96AB-5545C014FD6DQ37141721-5691BCEB-635C-4D1C-BDD8-B5DE9153EB09Q37377942-79B52A90-1224-46BC-A611-C7E9A4BBA6C6Q37702418-4CCD305D-CE2D-47C8-B5EC-3BCAC88DB59AQ38100668-A05F9D08-CC35-46C6-B38C-A693D28B383EQ38771122-5B38CA67-125A-43BC-80DF-2DDFA606BC58Q39703719-1FE9052F-964E-41E9-9671-10AC5A35A68BQ42253045-76241B0A-8099-4C4B-9C8A-47FC9BFA1866Q44192859-D3E642F2-E611-48FB-82D4-0BA03231DE07Q47362617-C31B3336-DF2A-4107-A113-3EBE691E8425Q49186985-BC74BFEE-0A15-4071-9330-50C3F7401CCFQ50140649-E55D6108-5798-4331-AB9E-964A3CC97CF8Q57998220-2791F0BB-44EE-46B8-934E-C9BA3C189202
P2860
Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria.
description
2006 nî lūn-bûn
@nan
2006 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Congenital erythropoietic porp ...... usative for a human porphyria.
@ast
Congenital erythropoietic porp ...... usative for a human porphyria.
@en
type
label
Congenital erythropoietic porp ...... usative for a human porphyria.
@ast
Congenital erythropoietic porp ...... usative for a human porphyria.
@en
prefLabel
Congenital erythropoietic porp ...... usative for a human porphyria.
@ast
Congenital erythropoietic porp ...... usative for a human porphyria.
@en
P2093
P2860
P1433
P1476
Congenital erythropoietic porp ...... usative for a human porphyria.
@en
P2093
Gerald J Spangrude
James P Kushner
John D Phillips
Michael A Pulsipher
P2860
P304
P356
10.1182/BLOOD-2006-06-022848
P407
P577
2006-12-05T00:00:00Z