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.
about
Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobinKrüppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variantsGenomic approaches to identifying targets for treating β hemoglobinopathiesExtrinsic 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 differentiationA case of congenital dyserythropoietic anemia type IV.Congenital dyserythropoietic anemias: molecular insights and diagnostic approachKrüppel-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
Q24314618-B8106FEB-F07B-4168-BC27-19B811E9D53DQ26768269-32C2FC6A-94F9-4B0C-8CE1-B2D5C5C58B5CQ26799214-CF7A943A-F6ED-4062-B240-1196BF32BB72Q33666771-442091DA-A910-4584-A989-130A02908547Q34272512-E8D4C8B2-62C2-425E-9537-EAB7DA1DF601Q34464896-59DBEFB4-8EF2-4E6B-AABD-DF6F901229D7Q35529339-2FAB0695-0B46-4662-B79E-AF2AC71C49C2Q37672745-93758CA2-33BA-4035-B242-D609EB0CAA2DQ38128556-EC73DE98-EE2C-4A4A-8F37-5C2A71977667Q38481966-49DB7751-0429-4AA0-B725-97BD85A4102FQ38664955-49F955B2-F5FB-496F-895F-E8951B4AFC2EQ38988198-D35E3D41-219C-4289-9500-59E0592552A4Q39117886-2A1B6049-8318-4ADD-8DAB-F514140561CAQ39399184-F380EA1D-07DA-4FE8-860D-B485B883B8D6Q40265801-8B9F0D0D-8939-42CA-8CE2-E579C8A3F4ADQ41168774-A923755F-21CB-4414-A024-D33281339C7FQ46586774-8AAC7856-AF14-4BE7-B644-6F4D5BF64550Q48325698-D2D21C46-4E33-41D2-A7B4-93F37A66A767Q49927544-62A6DCB8-BB0D-4229-BAB9-65F4EFFB7280Q50061134-83DDCFBC-937E-4FD8-BD7F-33A75BD8BBD9Q52560161-FB4EEF04-ACD4-4783-9862-261C773B0352
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.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
Erythroid transcription factor ...... clinical diagnostic paradigm.
@ast
Erythroid transcription factor ...... clinical diagnostic paradigm.
@en
type
label
Erythroid transcription factor ...... clinical diagnostic paradigm.
@ast
Erythroid transcription factor ...... clinical diagnostic paradigm.
@en
prefLabel
Erythroid transcription factor ...... clinical diagnostic paradigm.
@ast
Erythroid transcription factor ...... clinical diagnostic paradigm.
@en
P2093
P2860
P921
P1476
Erythroid transcription factor ...... a clinical diagnostic paradigm
@en
P2093
Connie M Westhoff
Deepa Manwani
James J Bieker
Julie A Jaffray
Surya V Seshan
W Beau Mitchell
Xinhuo Guo
P2860
P356
10.1016/J.BCMD.2013.02.006
P577
2013-03-20T00:00:00Z