Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
about
A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literatureGJC2 missense mutations cause human lymphedemaProtein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humansA model 450 million years in the making: zebrafish and vertebrate immunityDevelopment of the mammalian lymphatic vasculatureReceptor tyrosine kinase-mediated angiogenesisEvidence for SH2 domain-containing 5'-inositol phosphatase-2 (SHIP2) contributing to a lymphatic dysfunctionEPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis.Genetics of lymphatic anomaliesDeriving cell lines from zebrafish embryos and tumorsLymphatic function is required prenatally for lung inflation at birth.lyve1 expression reveals novel lymphatic vessels and new mechanisms for lymphatic vessel development in zebrafish.A novel perivascular cell population in the zebrafish brain.Bone morphogenetic protein 2 signaling negatively modulates lymphatic development in vertebrate embryos.Targeting of CCBE1 by miR-330-3p in human breast cancer promotes metastasisEfficient activation of the lymphangiogenic growth factor VEGF-C requires the C-terminal domain of VEGF-C and the N-terminal domain of CCBE1Current views on the function of the lymphatic vasculature in health and diseaseHennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.Pathogenesis of vascular anomalies.Vascular endothelial growth factor receptor-2 promotes the development of the lymphatic vasculature.CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops.Lymphatic vascular morphogenesis in development, physiology, and diseaseHennekam lymphangiectasia syndromeExpression and function of Ccbe1 in the chick early cardiogenic regions are required for correct heart development.Cell Adhesion Mediated by VCAM-ITGα9 Interactions Enables Lymphatic DevelopmentLymphangiogenesis and hemangiogenesis: potential targets for therapyLoss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculatureTumor lymphangiogenesis as a potential therapeutic target.The new era of the lymphatic system: no longer secondary to the blood vascular systemmafba is a downstream transcriptional effector of Vegfc signaling essential for embryonic lymphangiogenesis in zebrafish.Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia.Morphological and Molecular Characterization of Human Dermal Lymphatic CollectorsADAMTS3 activity is mandatory for embryonic lymphangiogenesis and regulates placental angiogenesis.The secreted lymphangiogenic factor CCBE1 is essential for fetal liver erythropoiesisProteolytic activation defines distinct lymphangiogenic mechanisms for VEGFC and VEGFD.Pulmonary hypoplasia and anasarca syndrome in Cika cattle.CCBE1 promotes GIST development through enhancing angiogenesis and mediating resistance to imatinib.A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression.New developments in clinical aspects of lymphatic disease.
P2860
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P2860
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
description
2009 nî lūn-bûn
@nan
2009 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
name
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
@ast
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
@en
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
@en-gb
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
@nl
type
label
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
@ast
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
@en
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
@en-gb
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
@nl
prefLabel
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
@ast
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
@en
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
@en-gb
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
@nl
P2093
P50
P3181
P356
P1433
P1476
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
@en
P2093
Eelco J Schroor
Eric A Hennekam
Eva E Holmberg
Faranak Salehi
G Johan A Offerhaus
Joke B G M Verheij
Marcel M A M Mannens
Margot F Mulder
Marielle Alders
Merlijn Witte
P2888
P304
P3181
P356
10.1038/NG.484
P407
P577
2009-12-01T00:00:00Z
P5875
P6179
1044321339