Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

RPGR-interagierendes Protein 1

Das RPGRIP1-Gen kodiert ein Protein des Photorezeptors. Mutationen verursachen autosomal rezessive Lebersche kongenitale Amaurose Typ 6.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25
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:

Lebersche kongenitale Amaurose 06
RPGRIP1

Referenzen:

1.

Khan AO et. al. (2014) Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.

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2.

Boylan JP et. al. (2000) Identification of a novel protein interacting with RPGR.

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3.

Roepman R et. al. (2000) The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors.

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4.

Hong DH et. al. (2001) Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium.

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5.

Dryja TP et. al. (2001) Null RPGRIP1 alleles in patients with Leber congenital amaurosis.

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6.

Gerber S et. al. (2001) Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.

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7.

Mavlyutov TA et. al. (2002) Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species.

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8.

Castagnet P et. al. (2003) RPGRIP1s with distinct neuronal localization and biochemical properties associate selectively with RanBP2 in amacrine neurons.

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9.

Hameed A et. al. (2003) Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy.

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10.

Shu X et. al. (2005) RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin.

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11.

Lu X et. al. (2005) Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis.

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12.

Lu X et. al. (2005) Identification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localization.

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13.

Roepman R et. al. (2005) Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.

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14.

Mellersh CS et. al. (2006) Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis.

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15.

Won J et. al. (2009) RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis.

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