Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects. - Wikidata - wikimedia - TriplyDB

Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects.

Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects.

http://www.wikidata.org/entity/Q33739356

about

Vascular anomalies: from genetics toward models for therapeutic trials Rapamycin improves TIE2-mutated venous malformation in murine model and human subjects Somatic Activating PIK3CA Mutations Cause Venous Malformation Zebrafish Tie-2 shares a redundant role with Tie-1 in heart development and regulates vessel integrity.Common and specific effects of TIE2 mutations causing venous malformations Disorganized vascular structures in sporadic venous malformations: a possible correlation with balancing effect between Tie2 and TGF-β.Mechanisms of vascular stability and the relationship to human disease Pathogenesis of vascular anomalies.The pathobiology of vascular malformations: insights from human and model organism genetics.A genome-wide search for linkage of estimated glomerular filtration rate (eGFR) in the Family Investigation of Nephropathy and Diabetes (FIND).Arteriovenous malformations and other vascular malformation syndromes.Variable Somatic TIE2 Mutations in Half of Sporadic Venous Malformations.Pathogenesis of infantile haemangioma.Syndrome-Associated Tumors by Organ System.Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.Venous malformation-causative TIE2 mutations mediate an AKT-dependent decrease in PDGFB.Somatic PIK3CA mutations as a driver of sporadic venous malformations.Bleomycin induces endothelial mesenchymal transition through activation of mTOR pathway: a possible mechanism contributing to the sclerotherapy of venous malformations.Lack of TEK Gene Mutation in Patients with Cutaneomucosal Venous Malformations from the North-Western Region of Algeria.Facial cutaneo-mucosal venous malformations can develop independently of mutation of TEK gene but may be associated with excessive expression of Src and p-Src.Pediatric vascular malformations: pathophysiology, diagnosis, and the role of interventional radiology.Vascular and perivascular lesions of skin and soft tissues in children and adolescents.Vascular anomalies of the head and neck: a review of genetics.Protein kinases and associated pathways in pluripotent state and lineage differentiation.Therapeutic targeting of the angiopoietin-TIE pathway.Elevated D-dimer level in the differential diagnosis of venous malformations.Unusual cause of 55 years of rectal bleeding: hemolymphangioma (a case report).Classification of Vascular Anomalies: An Update.Vascular Anomalies Caused by Abnormal Signaling within Endothelial Cells: Targets for Novel Therapies.Sirolimus alternative to blood transfusion as a life saver in blue rubber bleb nevus syndrome: A case report.STAT1 activation by venous malformations mutant Tie2-R849W antagonizes VEGF-A-mediated angiogenic response partly via reduced bFGF production.Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation.Vascular Malformations Sirolimus is efficacious in treatment for extensive and/or complex slow-flow vascular malformations: a monocentric prospective phase II study It Takes Two: Endothelial-Perivascular Cell Cross-Talk in Vascular Development and Disease

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P2860

Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects.

http://www.wikidata.org/entity/Q33739356

description

2009 nî lūn-bûn

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2009 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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2009 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2009年の論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年论文

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name

Hereditary cutaneomucosal veno ...... hyper-phosphorylating effects.

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Hereditary cutaneomucosal veno ...... hyper-phosphorylating effects.

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Hereditary cutaneomucosal veno ...... hyper-phosphorylating effects.

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Hereditary cutaneomucosal veno ...... hyper-phosphorylating effects.

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Hereditary cutaneomucosal veno ...... hyper-phosphorylating effects.

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Hereditary cutaneomucosal veno ...... hyper-phosphorylating effects.

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P1433

European Journal of Human Genetics

P1476

Hereditary cutaneomucosal veno ...... hyper-phosphorylating effects.

@en

P2093

Ahmad S Teebi

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

Alexandre Irrthum

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Anne Dompmartin

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Anthony Penington

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Eulalia Baselga

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Jill Murphy

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

John B Mulliken

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

Jonathan Berg

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Laurence M Boon

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Loshan Kangesu

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P2860

Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas")

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

A gene for inherited cutaneous venous anomalies ("glomangiomas") localizes to chromosome 1p21-22.

Mutation and cancer: statistical study of retinoblastoma

A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells

Structure of the Tie2 RTK domain: self-inhibition by the nucleotide binding loop, activation loop, and C-terminal tail

Allelic and locus heterogeneity in inherited venous malformations

Assignment of a locus for dominantly inherited venous malformations to chromosome 9p

Dominant-negative and targeted null mutations in the endothelial receptor tyrosine kinase, tek, reveal a critical role in vasculogenesis of the embryo

The unique insert of cellular and viral fms protein tyrosine kinase domains is dispensable for enzymatic and transforming activities

P2888

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414-420

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scholarly article

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10.1038/EJHG.2009.193

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4

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18

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2009-11-04T00:00:00Z

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38066070

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19888299

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phosphorylation

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2841708

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