Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Zapfen-Stäbchen-Homeobox-Protein

Das CRX-Gen kodiert ein Photorezeptor-spezifischen Transkriptionsfaktor. Mutationen verursachen autosomal rezessive oder dominante Lebersche kongenitale Amaurose Typ 7.

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:

Lebersche kongenitale Amaurose 07
CRX

Referenzen:

1.

Furukawa T et. al. (1997) Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation.

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2.

Freund CL et. al. (1997) Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor.

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3.

Swain PK et. al. (1997) Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration.

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4.

Freund CL et. al. (1998) De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis.

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5.

Sohocki MM et. al. (1998) A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.

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6.

Swaroop A et. al. (1999) Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function.

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7.

Furukawa T et. al. (1999) Retinopathy and attenuated circadian entrainment in Crx-deficient mice.

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8.

La Spada AR et. al. (2001) Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7.

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9.

Rivolta C et. al. (2001) Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX.

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10.

Gamse JT et. al. (2002) Otx5 regulates genes that show circadian expression in the zebrafish pineal complex.

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11.

Chen S et. al. (2002) Functional analysis of cone-rod homeobox (CRX) mutations associated with retinal dystrophy.

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12.

Nakamura M et. al. (2002) Novel de novo mutation in CRX gene in a Japanese patient with leber congenital amaurosis.

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13.

Chen S et. al. (2004) Interference of Crx-dependent transcription by ataxin-7 involves interaction between the glutamine regions and requires the ataxin-7 carboxy-terminal region for nuclear localization.

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14.

Nishida A et. al. (2003) Otx2 homeobox gene controls retinal photoreceptor cell fate and pineal gland development.

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15.

Itabashi T et. al. (2004) Novel 615delC mutation in the CRX gene in a Japanese family with cone-rod dystrophy.

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16.

Akagi T et. al. (2004) Otx2 homeobox gene induces photoreceptor-specific phenotypes in cells derived from adult iris and ciliary tissue.

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17.

Paunescu K et. al. (2007) Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame.

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