Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Nephronophthise 8

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


Nephronophthiese-ähnlicher Nephropathie 1
Nephronophthise 1
Nephronophthise 10
Nephronophthise 11
Nephronophthise 12
Nephronophthise 13
Nephronophthise 14
Nephronophthise 15
Nephronophthise 16
Nephronophthise 17
Nephronophthise 18
Nephronophthise 19
Nephronophthise 2
Nephronophthise 3
Nephronophthise 4
Nephronophthise 5
Nephronophthise 6
Nephronophthise 7
Nephronophthise 8
Nephronophthise 9



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


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


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


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.


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


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


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


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

Update: 26. September 2018