X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations. - Wikidata - awgldk - TriplyDB

X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations.

X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations.

http://www.wikidata.org/entity/Q37619645

about

Biology of Heme in Mammalian Erythroid Cells and Related Disorders Erythro-megakaryocytic transcription factors associated with hereditary anemia 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 Sideroblastic anemia: functional study of two novel missense mutations in ALAS2 Intron 1 GATA site enhances ALAS2 expression indispensably during erythroid differentiation.Society for Pediatric Research 2015 Young Investigator Award: genetics of human hematopoiesis-what patients can teach us about blood cell production.Mechanism governing heme synthesis reveals a GATA factor/heme circuit that controls differentiation.Concise Review: Epigenetic Regulation of Hematopoiesis: Biological Insights and Therapeutic Applications.Iron metabolism in erythroid cells and patients with congenital sideroblastic anemia.Lethal ALAS2 mutation in males X-linked sideroblastic anaemia.Microcytic anemia in a pregnant woman: beyond iron deficiency.Long non-coding RNA-dependent mechanism to regulate heme biosynthesis and erythrocyte development

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P2860

X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations.

http://www.wikidata.org/entity/Q37619645

description

2013 nî lūn-bûn

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2013年の論文

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年學術文章

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2013年學術文章

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2013年學術文章

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name

X-linked sideroblastic anemia ...... t GATA-binding site mutations.

@en

X-linked sideroblastic anemia ...... t GATA-binding site mutations.

@nl

type

label

X-linked sideroblastic anemia ...... t GATA-binding site mutations.

@en

X-linked sideroblastic anemia ...... t GATA-binding site mutations.

@nl

prefLabel

X-linked sideroblastic anemia ...... t GATA-binding site mutations.

@en

X-linked sideroblastic anemia ...... t GATA-binding site mutations.

@nl

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American Journal of Hematology

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X-linked sideroblastic anemia ...... t GATA-binding site mutations.

@en

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Alison May

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

Bernard Grandchamp

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Caroline Kannengiesser

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Charlotte I de Bie

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Charlotte M Niemeyer

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Dean R Campagna

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Dorine W Swinkels

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Gordon Marron

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Helger G Yntema

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Klaus Schmitz-Abe

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An integrated encyclopedia of DNA elements in the human genome

Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia

Crystal structure of 5-aminolevulinate synthase, the first enzyme of heme biosynthesis, and its link to XLSA in humans.

DNA-binding specificities of the GATA transcription factor family

Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations

Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)

Identification of biologically relevant enhancers in human erythroid cells.

Selection of housekeeping genes for gene expression studies in human reticulocytes using real-time PCR.

Inherited thrombocytopenia due to GATA-1 mutations.

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.

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315-319

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scholarly article

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10.1002/AJH.23616

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3

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89

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Kyriacos Markianos

Matthew M. Heeney

Anoop Sendamarai

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2013-11-20T00:00:00Z

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258115897

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24166784

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3943703

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