Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Vaslkulärer endothelialer Wachstumshormonrezeptor 3

Das FLT4-Gen kodiert einen Tyrosin-Kinase-Rezeptor, der die endothelialen Wachstumsfaktoren C und D bindet. Mutationen werden beim autosomal dominanten hereditären Lymphödem Typ 1a und gelegentlich in den Tumorzellen von infantilen kapillären Hämangiomen gefunden.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Infantiles kapilläres Hämangiom
FLT4
Hereditäres Lymphödem Typ 1a
FLT4

Referenzen:

1.

Walter JW et al. (2002) Somatic mutation of vascular endothelial growth factor receptors in juvenile hemangioma.

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2.

Zhang Y et al. (2014) Activation of vascular endothelial growth factor receptor-3 in macrophages restrains TLR4-NF-κB signaling and protects against endotoxin shock.

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3.

Benedito R et al. (2012) Notch-dependent VEGFR3 upregulation allows angiogenesis without VEGF-VEGFR2 signalling.

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4.

Wang Y et al. (2010) Ephrin-B2 controls VEGF-induced angiogenesis and lymphangiogenesis.

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5.

Tammela T et al. (2008) Blocking VEGFR-3 suppresses angiogenic sprouting and vascular network formation.

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6.

Siekmann AF et al. (2007) Notch signalling limits angiogenic cell behaviour in developing zebrafish arteries.

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7.

Cursiefen C et al. (2006) Nonvascular VEGF receptor 3 expression by corneal epithelium maintains avascularity and vision.

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8.

Kim H et al. (2003) Molecular mechanisms in lymphangiogenesis: model systems and implications in human disease.

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9.

Karkkainen MJ et al. (2001) A model for gene therapy of human hereditary lymphedema.

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10.

Irrthum A et al. (2000) Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase.

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11.

Dumont DJ et al. (1998) Cardiovascular failure in mouse embryos deficient in VEGF receptor-3.

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12.

Lee J et al. (1996) Vascular endothelial growth factor-related protein: a ligand and specific activator of the tyrosine kinase receptor Flt4.

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13.

Offori TW et al. (1993) Angiosarcoma in congenital hereditary lymphoedema (Milroy's disease)--diagnostic beacons and a review of the literature.

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14.

Pajusola K et al. (1994) Signalling properties of FLT4, a proteolytically processed receptor tyrosine kinase related to two VEGF receptors.

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15.

Kaipainen A et al. (1995) Expression of the fms-like tyrosine kinase 4 gene becomes restricted to lymphatic endothelium during development.

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16.

Pajusola K et al. (1992) FLT4 receptor tyrosine kinase contains seven immunoglobulin-like loops and is expressed in multiple human tissues and cell lines.

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17.

Galland F et al. (1992) Chromosomal localization of FLT4, a novel receptor-type tyrosine kinase gene.

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18.

Aprelikova O et al. (1992) FLT4, a novel class III receptor tyrosine kinase in chromosome 5q33-qter.

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19.

Ghalamkarpour A et al. (2009) Recessive primary congenital lymphoedema caused by a VEGFR3 mutation.

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20.

Connell FC et al. (2009) Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas.

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21.

Ghalamkarpour A et al. (2006) Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations.

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22.

Spiegel R et al. (2006) Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3.

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23.

Evans AL et al. (2003) Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema.

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24.

Karkkainen MJ et al. (2000) Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema.

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25.

Ferrell RE et al. (1998) Hereditary lymphedema: evidence for linkage and genetic heterogeneity.

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26.

Warrington JA et al. (1992) A radiation hybrid map of 18 growth factor, growth factor receptor, hormone receptor, or neurotransmitter receptor genes on the distal region of the long arm of chromosome 5.

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27.

NCBI article

NCBI 2324 external link
28.

OMIM.ORG article

Omim 136352 external link
29.

Orphanet article

Orphanet ID 121872 external link
Update: 14. August 2020
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