Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia
about
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndromeGJC2 missense mutations cause human lymphedemaMutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autismProtein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humansBiomedicine and diseases: the Klippel-Trenaunay syndrome, vascular anomalies and vascular morphogenesisThe transcription factor SOX18 regulates the expression of matrix metalloproteinase 7 and guidance molecules in human endothelial cellsControl of cell fate and differentiation by Sry-related high-mobility-group box (Sox) transcription factorsPersonalized Therapy for Generalized Lymphatic Anomaly/Gorham-Stout Disease With a Combination of Sunitinib and TaxolDevelopment of the mammalian lymphatic vasculatureLymphatic fate specification: an ERK-controlled transcriptional programVascular anomalies: from genetics toward models for therapeutic trialsEvidence for SH2 domain-containing 5'-inositol phosphatase-2 (SHIP2) contributing to a lymphatic dysfunctionGenetics of lymphatic anomaliesThe VCAM-1 gene that encodes the vascular cell adhesion molecule is a target of the Sry-related high mobility group box gene, Sox18Vascular defects in a mouse model of hypotrichosis-lymphedema-telangiectasia syndrome indicate a role for SOX18 in blood vessel maturationPBX1 and MEIS1 up-regulate SOX3 gene expression by direct interaction with a consensus binding site within the basal promoter regionStudies on Axenfeld-Rieger syndrome patients and mice reveal Foxc1's role in corneal neovascularizationA genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33Sox17 is indispensable for acquisition and maintenance of arterial identityElevated expression of VEGFR-3 in lymphatic endothelial cells from lymphangiomasBone morphogenetic protein 2 signaling negatively modulates lymphatic development in vertebrate embryos.SoxF factors and Notch regulate nr2f2 gene expression during venous differentiation in zebrafishSox18 preserves the pulmonary endothelial barrier under conditions of increased shear stress.From blue jeans to blue genes.The lymphatic system in health and disease.Current views on the function of the lymphatic vasculature in health and diseaseHuman Lymphatic Architecture and Dynamic Transport Imaged Using Near-infrared Fluorescence.Cytoplasmic plaque formation in hemidesmosome development is dependent on SoxF transcription factor functionPleural function and lymphatics.Gastrointestinal lymphatics in health and diseasePathogenesis of vascular anomalies.Lymphatic and angiogenic candidate genes predict the development of secondary lymphedema following breast cancer surgery.Transcriptional control of endothelial cell development.Vascular endothelial growth factor receptor-2 promotes the development of the lymphatic vasculature.Update on the molecular genetics of vascular anomalies.Connexin37 and Connexin43 deficiencies in mice disrupt lymphatic valve development and result in lymphatic disorders including lymphedema and chylothoraxLymphatic vascular morphogenesis in development, physiology, and diseaseAKT hyper-phosphorylation associated with PI3K mutations in lymphatic endothelial cells from a patient with lymphatic malformation.When it comes to blocking lymphatics, it is all a question of timeMilroy disease and the VEGFR-3 mutation phenotype.
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P2860
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia
description
2003 nî lūn-bûn
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2003 թուականի Մայիսին հրատարակուած գիտական յօդուած
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2003 թվականի մայիսին հրատարակված գիտական հոդված
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2003年の論文
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2003年論文
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2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
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2003年論文
@zh-tw
2003年论文
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name
Mutations in the transcription ...... osis-lymphedema-telangiectasia
@ast
Mutations in the transcription ...... osis-lymphedema-telangiectasia
@en
Mutations in the transcription ...... osis-lymphedema-telangiectasia
@en-gb
Mutations in the transcription ...... osis-lymphedema-telangiectasia
@nl
type
label
Mutations in the transcription ...... osis-lymphedema-telangiectasia
@ast
Mutations in the transcription ...... osis-lymphedema-telangiectasia
@en
Mutations in the transcription ...... osis-lymphedema-telangiectasia
@en-gb
Mutations in the transcription ...... osis-lymphedema-telangiectasia
@nl
prefLabel
Mutations in the transcription ...... osis-lymphedema-telangiectasia
@ast
Mutations in the transcription ...... osis-lymphedema-telangiectasia
@en
Mutations in the transcription ...... osis-lymphedema-telangiectasia
@en-gb
Mutations in the transcription ...... osis-lymphedema-telangiectasia
@nl
P2093
P2860
P3181
P356
P1476
Mutations in the transcription ...... osis-lymphedema-telangiectasia
@en
P2093
Alexandre Irrthum
Conrad Glade
David Chitayat
Gert Matthijs
Koenraad Devriendt
Maurice A M Van Steensel
Peter M Steijlen
P2860
P304
P3181
P356
10.1086/375614
P407
P577
2003-05-08T00:00:00Z