Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria - Wikidata - wikimedia - TriplyDB

Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria

Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria

http://www.wikidata.org/entity/Q28360504

about

Integrative annotation of variants from 1092 humans: application to cancer genomics Binding of the RING polycomb proteins to specific target genes in complex with the grainyhead-like family of developmental transcription factors.The transcription factor LSF: a novel oncogene for hepatocellular carcinoma Molecular basis of inherited microcytic anemia due to defects in iron acquisition or heme synthesis Erythro-megakaryocytic transcription factors associated with hereditary anemia Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria.Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis.Erythroid cell-specific alpha-globin gene regulation by the CP2 transcription factor family.A Case of Congenital Erythropoietic Porphyria without Hemolysis Congenital erythropoietic porphyria: advances in pathogenesis and treatment.Altered chromatin occupancy of master regulators underlies evolutionary divergence in the transcriptional landscape of erythroid differentiation Detection and visualization of compositionally similar cis-regulatory element clusters in orthologous and coordinately controlled genes.Inducing iron deficiency improves erythropoiesis and photosensitivity in congenital erythropoietic porphyria.Lineage-specific and ubiquitous biological roles of the mammalian transcription factor LSF N- and C-terminal transactivation domains of GATA1 protein coordinate hematopoietic program Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell Traits Insight into GATA1 transcriptional activity through interrogation of cis elements disrupted in human erythroid disorders Congenital Erythropoietic Porphyria with Undescended Testis.Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprinting Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria.Regulatory variations in the era of next-generation sequencing: implications for clinical molecular diagnostics.Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology.Society for Pediatric Research 2015 Young Investigator Award: genetics of human hematopoiesis-what patients can teach us about blood cell production.Advances in understanding the pathogenesis of congenital erythropoietic porphyria.Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition.GATA1 Activity Governed by Configurations of cis-Acting Elements.PIAS1 regulates CP2c localization and active promoter complex formation in erythroid cell-specific alpha-globin expression.Functional interaction of CP2 with GATA-1 in the regulation of erythroid promoters.Mutation of the GATA site in the erythroid cell-specific regulatory element of the ABO gene in a Bm subgroup individual.Mutational analysis of uroporphyrinogen III cosynthase gene in Iranian families with congenital erythropoietic porphyria.Concise Review: Epigenetic Regulation of Hematopoiesis: Biological Insights and Therapeutic Applications.Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases.Mbd2-CP2c loop drives adult-type globin gene expression and definitive erythropoiesis.

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P2860

Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria

http://www.wikidata.org/entity/Q28360504

description

2001 nî lūn-bûn

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2001 թուականի Մարտին հրատարակուած գիտական յօդուած

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2001 թվականի մարտին հրատարակված գիտական հոդված

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Uroporphyrinogen III synthase ...... nital erythropoietic porphyria

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Uroporphyrinogen III synthase ...... nital erythropoietic porphyria

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Uroporphyrinogen III synthase ...... nital erythropoietic porphyria

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Uroporphyrinogen III synthase ...... nital erythropoietic porphyria

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Uroporphyrinogen III synthase ...... nital erythropoietic porphyria

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C Solis

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P2860

Cloning of factors related to HIV-inducible LBP proteins that regulate steroidogenic factor-1-independent human placental transcription of the cholesterol side-chain cleavage enzyme, P450scc

DNA sequencing with chain-terminating inhibitors

Human uroporphyrinogen III synthase: molecular cloning, nucleotide sequence, and expression of a full-length cDNA

Purification and properties of uroporphyrinogen III synthase from human erythrocytes

Characterization of the genomic structure, chromosomal location, promoter, and development expression of the alpha-globin transcription factor CP2

Characterization of a family of related cellular transcription factors which can modulate human immunodeficiency virus type 1 transcription in vitro

The LIM-only protein Lmo2 is a bridging molecule assembling an erythroid, DNA-binding complex which includes the TAL1, E47, GATA-1 and Ldb1/NLI proteins

Hemoglobin switching in man and chicken is mediated by a heteromeric complex between the ubiquitous transcription factor CP2 and a developmentally specific protein

Analysis of vertebrate SCL loci identifies conserved enhancers

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

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