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.

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.

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http://www.wikidata.org/entity/Q36027987

Q36027987

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Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin Krüppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants Genomic approaches to identifying targets for treating β hemoglobinopathies Extrinsic and intrinsic control by EKLF (KLF1) within a specialized erythroid niche.Krüppel-like transcription factors KLF1 and KLF2 have unique and coordinate roles in regulating embryonic erythroid precursor maturation.KLF1-null neonates display hydrops fetalis and a deranged erythroid transcriptome.Altered chromatin occupancy of master regulators underlies evolutionary divergence in the transcriptional landscape of erythroid differentiation A case of congenital dyserythropoietic anemia type IV.Congenital dyserythropoietic anemias: molecular insights and diagnostic approach Krüppel-like factor 1: hematologic phenotypes associated with KLF1 gene mutations.Diagnosis and management of congenital dyserythropoietic anemias.Neomorphic effects of the neonatal anemia (Nan-Eklf) mutation contribute to deficits throughout development.Orchestration of late events in erythropoiesis by KLF1/EKLF.Molecular basis of β thalassemia and potential therapeutic targets.An Unusual Hydrops Fetalis Associated with Compound Heterozygosity for Krüppel-like Factor 1 mutations.EKLF/KLF1-regulated cell cycle exit is essential for erythroblast enucleation.Novel mutations in KLF1 encoding the In(Lu) phenotype reflect a diversity of clinical presentations.Morphological features of congenital dyserythropoietic anemia type I: The role of electron microscopy in diagnosis.KLF1 E325K-associated Congenital Dyserythropoietic Anemia Type IV: Insights Into the Variable Clinical Severity.Genetic Basis and Genetic Modifiers of β-Thalassemia and Sickle Cell Disease.Survey and evaluation of mutations in the human KLF1 transcription unit.

P2860

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P2860

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.

Item

http://www.wikidata.org/entity/Q36027987

description

2013 nî lūn-bûn

@nan

2013年の論文

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2013年論文

@yue

2013年論文

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2013年論文

@zh-hk

2013年論文

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2013年論文

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2013年论文

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2013年论文

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2013年论文

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name

Erythroid transcription factor ...... clinical diagnostic paradigm.

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Erythroid transcription factor ...... clinical diagnostic paradigm.

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Erythroid transcription factor ...... clinical diagnostic paradigm.

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Erythroid transcription factor ...... clinical diagnostic paradigm.

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Erythroid transcription factor ...... clinical diagnostic paradigm.

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Erythroid transcription factor ...... clinical diagnostic paradigm.

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P1476

Erythroid transcription factor ...... a clinical diagnostic paradigm

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P2093

Connie M Westhoff

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Deepa Manwani

http://www.w3.org/2001/XMLSchema#string

James J Bieker

http://www.w3.org/2001/XMLSchema#string

Julie A Jaffray

http://www.w3.org/2001/XMLSchema#string

Surya V Seshan

http://www.w3.org/2001/XMLSchema#string

W Beau Mitchell

http://www.w3.org/2001/XMLSchema#string

Xinhuo Guo

http://www.w3.org/2001/XMLSchema#string

P2860

Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin

A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia

Isolation, genomic structure, and expression of human erythroid Krüppel-like factor (EKLF)

Congenital dyserythropoietic anaemia with novel intra-erythroblastic and intra-erythrocytic inclusions.

Severe anemia in the Nan mutant mouse caused by sequence-selective disruption of erythroid Kruppel-like factor.

The multifunctional role of EKLF/KLF1 during erythropoiesis.

Mutations in EKLF/KLF1 form the molecular basis of the rare blood group In(Lu) phenotype.

Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.

Decreased membrane mechanical stability and in vivo loss of surface area reflect spectrin deficiencies in hereditary spherocytosis.

Mutations in the second zinc finger of human EKLF reduce promoter affinity but give rise to benign and disease phenotypes.

P304

71-75

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scholarly article

P356

10.1016/J.BCMD.2013.02.006

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P433

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P478

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Merlin Nithya Gnanapragasam

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2013-03-20T00:00:00Z

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236074295

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P698

23522491

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patient

congenital dyserythropoietic anemia type IV

birth defect

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4560093

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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.

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P2860

P2860

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.

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