A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia
about
Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approachCompound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobinErythroid phenotypes associated with KLF1 mutationsKruppel-like factor 1 (KLF1), KLF2, and Myc control a regulatory network essential for embryonic erythropoiesisTranscription factors KLF1 and KLF2 positively regulate embryonic and fetal beta-globin genes through direct promoter bindingKrüppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variantsGenomic approaches to identifying targets for treating β hemoglobinopathiesThe inherited bone marrow failure syndromesAnemia: progress in molecular mechanisms and therapiesErythro-megakaryocytic transcription factors associated with hereditary anemiaPromiscuous DNA-binding of a mutant zinc finger protein corrupts the transcriptome and diminishes cell viabilityActivation of KLF1 Enhances the Differentiation and Maturation of Red Blood Cells from Human Pluripotent Stem Cells.Extrinsic and intrinsic control by EKLF (KLF1) within a specialized erythroid niche.KLF1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of β-thalassemiaKrüppel-like transcription factors KLF1 and KLF2 have unique and coordinate roles in regulating embryonic erythroid precursor maturation.Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach.A new AQP1 null allele identified in a Gypsy woman who developed an anti-CO3 during her first pregnancy.Regulation of delta-aminolevulinic acid dehydratase by krüppel-like factor 1.KLF1-null neonates display hydrops fetalis and a deranged erythroid transcriptome.Erythropoiesis: development and differentiation.A functional element necessary for fetal hemoglobin silencingDiscovery of osmotic sensitive transcription factors in fish intestine via a transcriptomic approach.Genome-wide ChIP-Seq reveals a dramatic shift in the binding of the transcription factor erythroid Kruppel-like factor during erythrocyte differentiation.Altered chromatin occupancy of master regulators underlies evolutionary divergence in the transcriptional landscape of erythroid differentiationTen novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults.The multifunctional role of EKLF/KLF1 during erythropoiesis.Erythroid transcription factor EKLF/KLF1 mutation causing congenital dyserythropoietic anemia type IV in a patient of Taiwanese origin: review of all reported cases and development of a clinical diagnostic paradigm.Methylation alterations of WT1 and homeobox genes in inflamed muscle biopsy samples from patients with untreated juvenile dermatomyositis suggest self-renewal capacity.Novel roles for KLF1 in erythropoiesis revealed by mRNA-seq.The switch from fetal to adult hemoglobinThe prevention of thalassemia.A case of congenital dyserythropoietic anemia type IV.Reawakening fetal hemoglobin: prospects for new therapies for the β-globin disorders.EKLF/KLF1, a tissue-restricted integrator of transcriptional control, chromatin remodeling, and lineage determination.Congenital dyserythropoietic anemias: molecular insights and diagnostic approachKrüppel-like factor 1: hematologic phenotypes associated with KLF1 gene mutations.Novel methods for studying normal and disordered erythropoiesis.Diagnosis and management of congenital dyserythropoietic anemias.Neomorphic effects of the neonatal anemia (Nan-Eklf) mutation contribute to deficits throughout development.Emerging cellular and gene therapies for congenital anemias.
P2860
Q24289319-D32D6FD3-38B0-4B15-BE78-92BC0CAFED3EQ24314618-AF707125-4830-4591-83BA-2AC089BB580DQ24604912-9074FEFE-338F-4965-B443-5C7DF7FCDC06Q24606774-7BA64C87-BBD6-4DF1-9876-977E330F7004Q24632948-1FB35F73-2BC5-4D97-BB65-B4366452F93AQ26768269-5DB5BB29-6562-4838-ABA0-9CEE84C92186Q26799214-0D7205CF-1D2E-436E-920E-066DD13E96FEQ26999046-706CA428-0124-4764-8B75-766EF8CB2019Q27023172-21A6D631-3EF6-4ADD-9DFC-634CAD3BC6B3Q28236415-9CF51DDB-33D1-41D8-89D9-19E9A1E0DBE4Q33554074-E8E497B6-333A-4719-A3C3-BCC555B93321Q33578349-2AEE2563-3D49-43BF-9463-3587A197451DQ33666771-DEB9350F-2A44-44F3-B3FA-7F2003D198C7Q33987100-74D6F961-97D5-4CC6-9208-37A0C1600CAAQ34272512-863E7F9C-C2F5-4F39-87DD-5E21F43B7548Q34306088-7CE6597A-F536-4E1F-B28F-0E8C31796109Q34361302-3C2EF382-F05D-4B07-B12E-799FA23FF82DQ34441516-EFE79A44-3BF4-4FBE-AEA0-77A2D318899BQ34464896-C496DD7F-3E10-429D-8492-8628B86DFDE1Q34649958-E69F6E85-9343-48CF-A3ED-93999564DD4CQ35217485-B068B1A4-DE23-4218-9D93-05CE086E27A3Q35227807-7C41ED86-22BD-4276-8500-9866FF0C34FDQ35525497-35D519FD-4CB2-4B19-AFC7-C507D2401252Q35529339-FC9ABFD7-51E4-4519-9668-DD14531097D4Q35794401-B4FAB06F-4AC5-4087-938D-00A706546995Q35797596-3DDAC48E-CC74-4A17-9713-7396BC956CBDQ36027987-27ACA8EB-0098-4F59-A3AA-E3F9C26B5DEEQ36291269-CB785C61-529D-41C3-AC42-D3E0F4D6F0ECQ36446199-F10EAD35-E6DD-4414-8F7E-22C677F29DC5Q36488272-5DDC9E26-1F92-412A-8CDA-70714F5E2041Q36554628-677358E4-6804-4D53-8BC1-7AC0EB6BB80DQ37672745-B7E65DEB-239D-4D12-B95F-8E352D8E67F8Q38035829-5FB028F2-7701-4326-99AF-79E58FCAFC98Q38054642-CC387206-2C99-455A-A6E6-49B0B941B0ECQ38128556-A63C4AAB-B77D-4E7B-8016-135D710A2D53Q38481966-0490E909-8609-41E7-8404-635EB925D25FQ38640493-8341E217-87AB-4F16-A63F-561A4FEBFF10Q38664955-8BA0BA22-018E-4642-8AF4-2029BF5EA358Q38988198-395FA508-743A-49E2-B94F-EA98CF3F39E9Q38993825-C928D08F-5F0B-43D7-BB2C-4BBEF3CC1F39
P2860
A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia
description
2010 nî lūn-bûn
@nan
2010 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
A dominant mutation in the gen ...... nital dyserythropoietic anemia
@ast
A dominant mutation in the gen ...... nital dyserythropoietic anemia
@en
A dominant mutation in the gen ...... nital dyserythropoietic anemia
@en-gb
A dominant mutation in the gen ...... nital dyserythropoietic anemia
@nl
type
label
A dominant mutation in the gen ...... nital dyserythropoietic anemia
@ast
A dominant mutation in the gen ...... nital dyserythropoietic anemia
@en
A dominant mutation in the gen ...... nital dyserythropoietic anemia
@en-gb
A dominant mutation in the gen ...... nital dyserythropoietic anemia
@nl
prefLabel
A dominant mutation in the gen ...... nital dyserythropoietic anemia
@ast
A dominant mutation in the gen ...... nital dyserythropoietic anemia
@en
A dominant mutation in the gen ...... nital dyserythropoietic anemia
@en-gb
A dominant mutation in the gen ...... nital dyserythropoietic anemia
@nl
P2093
P2860
P921
P1476
A dominant mutation in the gen ...... nital dyserythropoietic anemia
@en
P2093
Achille Iolascon
Alain Francina
Bernard Foliguet
Carole Saison
Claude Prehu
Dominique Steschenko
Gail Coghlan
Gil Tchernia
Hannah Tamary
Henrik Birgens
P2860
P356
10.1016/J.AJHG.2010.10.010
P407
P577
2010-11-12T00:00:00Z