Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Nephronophthise 08

Der Typ 8 der Nephronophthise ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen RPGRIP1L hervorgerufen wird.

Gliederung

Nephronophthise
Nephronophthiese-ähnlicher Nephropathie 1
Nephronophthise 01
Nephronophthise 02
Nephronophthise 03
Nephronophthise 04
Nephronophthise 05
Nephronophthise 06
Nephronophthise 07
Nephronophthise 08
RPGRIP1L
Nephronophthise 09
Nephronophthise 10
Nephronophthise 11
Nephronophthise 12
Nephronophthise 13
Nephronophthise 14
Nephronophthise 15
Nephronophthise 16
Nephronophthise 17
Nephronophthise 18
Nephronophthise 19
Nephronophthise 20

Referenzen:

1.

Khanna H et al. (2009) A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

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2.

Nagase T et al. (1999) Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

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3.

Williams CL et al. (2011) MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis.

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4.

Doherty D et al. (2010) Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

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5.

Arts HH et al. (2007) Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.

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6.

Delous M et al. (2007) The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.

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7.

Brancati F et al. (2008) RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.

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8.

Wolf MT et al. (2007) Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.

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9.

OMIM.ORG article

Omim 610937 [^]
Update: 29. April 2019