Molecular analysis of the rare in(Lu) blood type: toward decoding the phenotypic outcome of haploinsufficiency for the transcription factor KLF1.

Molecular analysis of the rare in(Lu) blood type: toward decoding the phenotypic outcome of haploinsufficiency for the transcription factor KLF1.

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http://www.wikidata.org/entity/Q50500936
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 variantsExtrinsic 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.KLF1-null neonates display hydrops fetalis and a deranged erythroid transcriptome.Blood Groups in Infection and Host Susceptibility.Krüppel-like factor 1: hematologic phenotypes associated with KLF1 gene mutations.Neomorphic effects of the neonatal anemia (Nan-Eklf) mutation contribute to deficits throughout development.Fetal hemoglobin regulation in β-thalassemia: heterogeneity, modifiers and therapeutic approaches.Novel mutations in KLF1 encoding the In(Lu) phenotype reflect a diversity of clinical presentations.Deficiency in interferon type 1 receptor improves definitive erythropoiesis in Klf1 null mice.Genetic variation of Krüppel-like factor 1 (KLF1) and fetal hemoglobin (HbF) levels in β0-thalassemia/HbE disease.Two novel mutations in KLF1 were identified in Chinese individuals with In(Lu) phenotype.Mutations of the KLF1 gene detected in Japanese with the In(Lu) phenotype.Identification of new KLF1 and LU alleles during the resolution of Lutheran typing discrepancies.Changes in hematological parameters in α-thalassemia individuals co-inherited with erythroid Krüppel-like factor mutations.
P2860

Molecular analysis of the rare in(Lu) blood type: toward decoding the phenotypic outcome of haploinsufficiency for the transcription factor KLF1.

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http://www.wikidata.org/entity/Q50500936
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh-hant
name
Molecular analysis of the rare in
@nl
Molecular analysis of the rare ...... the transcription factor KLF1.
@en
type
label
Molecular analysis of the rare in
@nl
Molecular analysis of the rare ...... the transcription factor KLF1.
@en
prefLabel
Molecular analysis of the rare in
@nl
Molecular analysis of the rare ...... the transcription factor KLF1.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P698
P921
P356
P1433
P1476
Molecular analysis of the rare ...... the transcription factor KLF1.
@en
P2093
P2860
P304
P31
P356
P433
P478
P577
P698
P921