Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Einwärts-gleichrichtender Kaliumkanal 13

Das KCNJ13-Gen kodiert ein Retina-spezifischen Kaliumkanal. Mutationen verursachen autosomal rezessive Lebersche kongenitale Amaurose Typ 16.

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 16
KCNJ13

Referenzen:

1.

Ghamari-Langroudi M et. al. (2015) G-protein-independent coupling of MC4R to Kir7.1 in hypothalamic neurons.

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2.

Krapivinsky G et. al. (1998) A novel inward rectifier K+ channel with unique pore properties.

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3.

Partiseti M et. al. (1998) Cloning and characterization of a novel human inwardly rectifying potassium channel predominantly expressed in small intestine.

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4.

Derst C et. al. (1998) Partial gene structure and assignment to chromosome 2q37 of the human inwardly rectifying K+ channel (Kir7.1) gene (KCNJ13).

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5.

Hejtmancik JF et. al. (2008) Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration.

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6.

Sergouniotis PI et. al. (2011) Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.

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7.

Zhang W et. al. (2013) Characterization of the R162W Kir7.1 mutation associated with snowflake vitreoretinopathy.

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8.

Khan AO et. al. (2015) A distinct vitreo-retinal dystrophy with early-onset cataract from recessive KCNJ13 mutations.

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9.

Zhong H et. al. (2015) CRISPR-engineered mosaicism rapidly reveals that loss of Kcnj13 function in mice mimics human disease phenotypes.

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10.

Pattnaik BR et. al. (2015) A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16).

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