Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity. - Wikidata - wikimedia - TriplyDB

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.

http://www.wikidata.org/entity/Q37042312

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Angiopoietin-Tie signalling in the cardiovascular and lymphatic systems Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development.Structural basis of Tie2 activation and Tie2/Tie1 heterodimerization.Dimerization of Tie2 mediated by its membrane-proximal FNIII domains.Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three-generation human pedigree.Assaying the Effects of Splice Site Variants by Exon Trapping in a Mammalian Cell Line.Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma.Therapeutic targeting of the angiopoietin-TIE pathway.Vascular heterogeneity and specialization in development and disease.Primary congenital and developmental glaucomas.Angiopoietins and Tie2 in vascular inflammation.Impaired angiopoietin/Tie2 signaling compromises Schlemm's canal integrity and induces glaucoma.Organ-specific lymphatic vasculature: From development to pathophysiology.Ascending Vasa Recta Are Angiopoietin/Tie2-Dependent Lymphatic-Like Vessels.Organotypic vasculature: From descriptive heterogeneity to functional pathophysiology.Context-dependent functions of angiopoietin 2 are determined by the endothelial phosphatase VEPTP.Angiopoietin-1 is required for Schlemm's canal development in mice and humans.All TIEd up: mechanisms of Schlemm's canal maintenance.Mutations in BOREALIN cause thyroid dysgenesis.Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.Research progress on human genes involved in the pathogenesis of glaucoma (Review).SLC4A4 compound heterozygous mutations in exon-intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner's syndrome: a case report.

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Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.

http://www.wikidata.org/entity/Q37042312

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

@tr

scientific article published on 06 June 2016

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Angiopoietin receptor TEK muta ...... ma with variable expressivity.

@en

Angiopoietin receptor TEK muta ...... ma with variable expressivity.

@nl

type

label

Angiopoietin receptor TEK muta ...... ma with variable expressivity.

@en

Angiopoietin receptor TEK muta ...... ma with variable expressivity.

@nl

prefLabel

Angiopoietin receptor TEK muta ...... ma with variable expressivity.

@en

Angiopoietin receptor TEK muta ...... ma with variable expressivity.

@nl

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Journal of Clinical Investigation

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Angiopoietin receptor TEK muta ...... ma with variable expressivity.

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Alex W Hewitt

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Bethany Kloss

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David A Mackey

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Dimitar N Azmanov

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Francesca Pasutto

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Janey L Wiggs

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Jing Jin

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Jonathan B Ruddle

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Keri F Allen

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Khanh-Nhat Tran-Viet

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P2860

Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.

Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2

Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21

Angiopoietins assemble distinct Tie2 signalling complexes in endothelial cell-cell and cell-matrix contacts

Differential function of Tie2 at cell-cell contacts and cell-substratum contacts regulated by angiopoietin-1

The FoldX web server: an online force field

Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia

Cell signaling by receptor tyrosine kinases

Angiopoietin-1 is essential in mouse vasculature during development and in response to injury.

The Genetics and the Genomics of Primary Congenital Glaucoma

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2575-2587

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10.1172/JCI85830

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7

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126

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Kathryn P. Burdon

Emmanuelle Souzeau

Stuart W Tompson

Krishnakumar Kizhatil

Benjamin R Thomson

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2016-06-06T00:00:00Z

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27270174

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