Senior-Loken-Syndrom 4
Senior-Loken-Syndrom 4 ist eine autosomal rezessive Erkrankung mit medullären Nierenzysten, die durch Mutationen im NPHP4-Gen hervorgerufen wird. Neben einer meist im Kindesalter beginnenden progressive Niereninsuffizienz ist die Erkrankung mit einer Leberschen Amaurose vergesellschaftet.
Gliederung
Referenzen:
| 1. |
Khanna H et. al. (2009) A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. [^] |
| 2. |
Godel V et. al. (1979) Retinal manifestations in familial juvenile nephronophthisis. [^] |
| 3. |
Diekmann L et. al. (1977) [Familial nephropathy with retinitis pigmentosa and peripheral dysostosis]. [^] |
| 4. |
Avasthi PS et. al. (1976) Hereditary renal-retinal dysplasia and the medullary cystic disease-nephronophthisis complex. [^] |
| 5. |
Hogewind BL et. al. (1977) Electro-rentinal abnormalities in heterozygotes of renal-retinal dysplasia. [^] |
| 6. |
Proesmans W et. al. (1975) Nephronophthisis and tapetoretinal degeneration associated with liver fibrosis. [^] |
| 7. |
Clarke MP et. al. (1992) Senior-Loken syndrome. Case reports of two siblings and association with sensorineural deafness. [^] |
| 8. |
Schuman JS et. al. (1985) Senior-Loken syndrome (familial renal-retinal dystrophy) and Coats' disease. [^] |
| 9. |
Boichis H et. al. (1973) Congenital hepatic fibrosis and nephronophthisis. A family study. [^] |
| 10. |
None (1969) Familial occurrence of congenital retinal blindness and developmental renal lesions. [^] |
| 11. |
Fontaine JL et. al. (1970) [Tubulo-interstitial nephropathy in children with tapeto-retinal degeneration (Senior's syndrome. (1 case)]. [^] |
| 12. |
Bois E et. al. (1970) [Association of chronic tubulo-interstitial nephropathy and of tapeto-retinal degeneration. Genetic study]. [^] |
| 13. |
None (1969) Hereditary renal-retinal dysplasia. [^] |
| 14. |
Mendley SR et. al. (1995) Hereditary sclerosing glomerulopathy in the conorenal syndrome. [^] |
| 15. |
Antignac C et. al. (1993) A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p. [^] |
| 16. |
Warady BA et. al. (1994) Senior-Loken syndrome: revisited. [^] |
| 17. |
Caridi G et. al. (1998) Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus. [^] |
| 18. |
Omran H et. al. (2002) Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene. [^] |
| 19. |
Schuermann MJ et. al. (2002) Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36. [^] |
| 20. |
Otto E et. al. (2002) A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. [^] |
| 21. |
LOKEN AC et. al. (1961) Hereditary renal dysplasia and blindness. [^] |
| 22. |
SENIOR B et. al. (1961) Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy. [^] |
| 23. |
Otto EA et. al. (2005) Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. [^] |
| 24. |
None (1924) The Inheritance of a Retinal Abnormality in White Mice. [^] |
| 25. |
Fairley KF et. al. (1963) Familial Visual Defects Associated with Polycystic Kidney and Medullary Sponge Kidney. [^] |
