Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Vaskulärer endothelialer Wachstumsfaktor C

Das VEGFC-Gen kodiert ein Protein, welches die Ausbildung der Lymphgefäße in der Ontogenese steuert. Mutationen führen zu einem autosomal dominanten Lymphödem. Weiterhin scheint das Protein eine Rolle bei der Natriumretention in der Haut und dem salzabhängigen Hypertonus zu spielen.

Diagnostik:

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

Krankheiten:

Hereditäres Lymphödem Typ 1d
VEGFC
Erblicher Bluthochdruck
ACE
ACE2
AGT
Benigne Hyperproreninämie
REN
Monogener Hypertonus
Apparenter Mineralocortocoid Exzess
HSD11B2
Glycocorticoid getriggerter Hypertonus
NR3C1
Hyperaldosteronismus
Conn-Syndrom
ATP1A1
ATP2B3
CACNA1D
CACNA1H
CTNNB1
KCNJ5
Glycocorticoid getriggerter Hypertonus
NR3C1
Hyperaldosteronismus Typ 1
CYP11B1
CYP11B2
Hyperaldosteronismus Typ 2
Hyperaldosteronismus Typ 3
KCNJ5
Hyperaldosteronismus Typ 4
CACNA1D
CACNA1H
Hypertonie-Brachydaktylie-Syndrom
PDE3A
Liddle-Syndrom
NEDD4
NEDD4L
NR3C2
OXSR1
SCNN1B
SCNN1G
STK39
Pseudohypoaldosteronismus
Pseudohypoaldosteronismus Typ 1
NR3C2
SCNN1A
SCNN1B
SCNN1G
Pseudohypoaldosteronismus Type 2
CUL3
KLHL3
WNK1
WNK4
VEGFC

Referenzen:

1.

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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2.

Hung CJ et al. (2003) Expression of vascular endothelial growth factor-C in benign and malignant thyroid tumors.

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3.

Karkkainen MJ et al. (2004) Vascular endothelial growth factor C is required for sprouting of the first lymphatic vessels from embryonic veins.

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4.

Machnik A et al. (2009) Macrophages regulate salt-dependent volume and blood pressure by a vascular endothelial growth factor-C-dependent buffering mechanism.

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5.

Titze J et al. (2010) Sodium sensing in the interstitium and relationship to hypertension.

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6.

Slagman MC et al. (2012) Vascular endothelial growth factor C levels are modulated by dietary salt intake in proteinuric chronic kidney disease patients and in healthy subjects.

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7.

Liu F et al. (2011) Involvement of the lymphatic system in salt-sensitive hypertension in humans.

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8.

Gordon K et al. (2013) Mutation in vascular endothelial growth factor-C, a ligand for vascular endothelial growth factor receptor-3, is associated with autosomal dominant milroy-like primary lymphedema.

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9.

Villefranc JA et al. (2013) A truncation allele in vascular endothelial growth factor c reveals distinct modes of signaling during lymphatic and vascular development.

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10.

Wiig H et al. (2013) Immune cells control skin lymphatic electrolyte homeostasis and blood pressure.

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11.

Joukov V et al. (1996) A novel vascular endothelial growth factor, VEGF-C, is a ligand for the Flt4 (VEGFR-3) and KDR (VEGFR-2) receptor tyrosine kinases.

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