Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Infantiles kapilläres Hämangiom
FLT4
Hereditäres Lymphödem Typ 1a
FLT4

Referenzen:

1.

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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2.

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

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3.

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

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4.

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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5.

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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6.

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

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7.

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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8.

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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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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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19.

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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20.

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

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21.

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

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22.

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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23.

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

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24.

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

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25.

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

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26.

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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