Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1 (Q24317667)

GOA release 2020-03-11

author

Douglas A Marchuk

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ORCID Public Data File 2021

author name string

K A McAllister

1

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K M Grogg

2

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D W Johnson

3

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C J Gallione

4

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M A Baldwin

5

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C E Jackson

6

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E A Helmbold

7

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D S Markel

8

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W C McKinnon

9

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J Murrell

TGF beta signals through a heteromeric protein kinase receptor complex

10

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publication date

December 1994

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language of work or name

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8

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issue

4

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page(s)

345-51

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cites work

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Structure and expression of the membrane proteoglycan betaglycan, a component of the TGF-beta receptor system

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Expression cloning and characterization of the TGF-beta type III receptor

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Targeted disruption of the mouse transforming growth factor-beta 1 gene results in multifocal inflammatory disease

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Hereditary hemorrhagic telangiectasia. An electron microscopic study

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Ultrastructure and three-dimensional organization of the telangiectases of hereditary hemorrhagic telangiectasia

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A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34

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A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3

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Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype

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Genetic heterogeneity in hereditary haemorrhagic telangiectasia

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Linkage of hereditary haemorrhagic telangiectasia to chromosome 9q34 and evidence for locus heterogeneity

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COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type II

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The TGF-beta family and its composite receptors

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Assignment of the human endoglin gene (END) to 9q34-->qter

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Report and abstracts of the Third International Workshop on Chromosome 9. Cambridge, United Kingdom, 9-11 April, 1994.

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Regulated expression on human macrophages of endoglin, an Arg-Gly-Asp-containing surface antigen

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Identification of distinct epitopes of endoglin, an RGD-containing glycoprotein of endothelial cells, leukemic cells, and syncytiotrophoblasts

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Molecular characterization and in situ localization of murine endoglin reveal that it is a transforming growth factor-beta binding protein of endothelial and stromal cells

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7 January 2021

Comparison of the biological actions of TGF beta-1 and TGF beta-2: differential activity in endothelial cells

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Integrins as dynamic regulators of vascular function

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Betaglycan presents ligand to the TGF beta signaling receptor.

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Transforming growth factor beta 1 null mutation in mice causes excessive inflammatory response and early death

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Maternal rescue of transforming growth factor-beta 1 null mice

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Transforming growth factor receptor gene TGFBR2 maps to human chromosome band 3p22.

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PCR buffer optimization with uniform temperature regimen to facilitate automation

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Identification and expression of two forms of the human transforming growth factor-beta-binding protein endoglin with distinct cytoplasmic regions

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