Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

LDL-Rezeptor-related-Protein 5

Das LRP5-Gen kodiert einen LDL-Rezeptor, der das gebundene LDL mittels Endozytose internalisiert. Dieser Rezeptor spielt eine wichtige Rolle im Knochen- und Leberstoffwechselsowie im Auge. Mutationen sind für verschiedene Störungen des Knochen-Mineralhaushaltes verantwortlich. Im Auge wird die exudative Vitreoretinopathie Typ 4 ausgelöst und in der Leber können sich multiple Zysten bilden.

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:

Autosomal dominante Osteopetrose 1
LRP5
Polyzystische Lebererkrankung
LRP5
Polyzystische Lebererkrankung 1
PRKCSH
Polyzystische Lebererkrankung 2
SEC63
Osteoporose
CASR
LRP5
RXRA
VDR

Referenzen:

1.

None (1995) Familial exudative vitreoretinopathy.

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2.

Shastry BS et. al. (1997) Familial exudative vitreoretinopathy: further evidence for genetic heterogeneity.

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3.

Hey PJ et. al. (1998) Cloning of a novel member of the low-density lipoprotein receptor family.

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4.

Dong Y et. al. (1998) Molecular cloning and characterization of LR3, a novel LDL receptor family protein with mitogenic activity.

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5.

de Crecchio G et. al. (1998) Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity.

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6.

Chen D et. al. (1999) Molecular cloning of mouse Lrp7(Lr3) cDNA and chromosomal mapping of orthologous genes in mouse and human.

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7.

Mao J et. al. (2001) Low-density lipoprotein receptor-related protein-5 binds to Axin and regulates the canonical Wnt signaling pathway.

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8.

Twells RC et. al. (2001) The sequence and gene characterization of a 400-kb candidate region for IDDM4 on chromosome 11q13.

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9.

Gong Y et. al. (2001) LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.

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10.

Little RD et. al. (2002) A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait.

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11.

Kato M et. al. (2002) Cbfa1-independent decrease in osteoblast proliferation, osteopenia, and persistent embryonic eye vascularization in mice deficient in Lrp5, a Wnt coreceptor.

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12.

Boyden LM et. al. (2002) High bone density due to a mutation in LDL-receptor-related protein 5.

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13.

Magoori K et. al. (2003) Severe hypercholesterolemia, impaired fat tolerance, and advanced atherosclerosis in mice lacking both low density lipoprotein receptor-related protein 5 and apolipoprotein E.

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14.

Fujino T et. al. (2003) Low-density lipoprotein receptor-related protein 5 (LRP5) is essential for normal cholesterol metabolism and glucose-induced insulin secretion.

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15.

Van Wesenbeeck L et. al. (2003) Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.

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16.

Twells RC et. al. (2003) Haplotype structure, LD blocks, and uneven recombination within the LRP5 gene.

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17.

Kondo H et. al. (2003) Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity.

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18.

Mizuguchi T et. al. (2004) LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density.

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19.

Toomes C et. al. (2004) Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

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20.

Ferrari SL et. al. (2004) Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites.

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21.

Jiao X et. al. (2004) Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.

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22.

Semënov M et. al. (2005) SOST is a ligand for LRP5/LRP6 and a Wnt signaling inhibitor.

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23.

Qin M et. al. (2005) Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.

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24.

Ai M et. al. (2005) Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.

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25.

Clément-Lacroix P et. al. (2005) Lrp5-independent activation of Wnt signaling by lithium chloride increases bone formation and bone mass in mice.

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26.

Guo YF et. al. (2006) Polymorphisms of the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with obesity phenotypes in a large family-based association study.

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27.

Qin M et. al. (2008) Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy.

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28.

Yadav VK et. al. (2008) Lrp5 controls bone formation by inhibiting serotonin synthesis in the duodenum.

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29.

Narumi S et. al. (2010) Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray.

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30.

Cui Y et. al. (2011) Lrp5 functions in bone to regulate bone mass.

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