TRAF3-interacting protein 1
TRAF3-interacting protein 1 is involved in signal transduction of interleukin 13. Mutations cause autosomal recesive Senior-Loken syndrome 9.
Genetests:
Related Diseases:
References:
1. |
Boichis H et al. (1973) Congenital hepatic fibrosis and nephronophthisis. A family study.
|
2. |
Bizet AA et al. (2015) Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.
|
3. |
Berbari NF et al. (2011) Mutations in Traf3ip1 reveal defects in ciliogenesis, embryonic development, and altered cell size regulation.
|
4. |
Fairley KF et al. (1963) Familial Visual Defects Associated with Polycystic Kidney and Medullary Sponge Kidney.
|
5. |
Omori Y et al. (2008) Elipsa is an early determinant of ciliogenesis that links the IFT particle to membrane-associated small GTPase Rab8.
|
6. |
None (1924) The Inheritance of a Retinal Abnormality in White Mice.
|
7. |
Otto EA et al. (2005) Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.
|
8. |
SENIOR B et al. (1961) Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy.
|
9. |
LOKEN AC et al. (1961) Hereditary renal dysplasia and blindness.
|
10. |
Olbrich H et al. (2003) Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.
|
11. |
Otto E et al. (2002) A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.
|
12. |
Schuermann MJ et al. (2002) Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36.
|
13. |
Omran H et al. (2002) Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene.
|
14. |
Ling L et al. (2000) MIP-T3, a novel protein linking tumor necrosis factor receptor-associated factor 3 to the microtubule network.
|
15. |
Caridi G et al. (1998) Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus.
|
16. |
Warady BA et al. (1994) Senior-Loken syndrome: revisited.
|
17. |
Mendley SR et al. (1995) Hereditary sclerosing glomerulopathy in the conorenal syndrome.
|
18. |
Khanna H et al. (2009) A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
|
19. |
Sayer JA et al. (2006) The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
|
20. |
Godel V et al. (1979) Retinal manifestations in familial juvenile nephronophthisis.
|
21. |
Diekmann L et al. (1977) [Familial nephropathy with retinitis pigmentosa and peripheral dysostosis].
|
22. |
Avasthi PS et al. (1976) Hereditary renal-retinal dysplasia and the medullary cystic disease-nephronophthisis complex.
|
23. |
Hogewind BL et al. (1977) Electro-rentinal abnormalities in heterozygotes of renal-retinal dysplasia.
|
24. |
Proesmans W et al. (1975) Nephronophthisis and tapetoretinal degeneration associated with liver fibrosis.
|
25. |
Clarke MP et al. (1992) Senior-Loken syndrome. Case reports of two siblings and association with sensorineural deafness.
|
26. |
Schuman JS et al. (1985) Senior-Loken syndrome (familial renal-retinal dystrophy) and Coats' disease.
|
27. |
None (1969) Familial occurrence of congenital retinal blindness and developmental renal lesions.
|
28. |
Fontaine JL et al. (1970) [Tubulo-interstitial nephropathy in children with tapeto-retinal degeneration (Senior's syndrome. (1 case)].
|
29. |
Bois E et al. (1970) [Association of chronic tubulo-interstitial nephropathy and of tapeto-retinal degeneration. Genetic study].
|
30. |
None (1969) Hereditary renal-retinal dysplasia.
|
31. |
Antignac C et al. (1993) A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p.
|
32. |
Orphanet article
Orphanet ID 444522
|
33. |
NCBI article
NCBI 26146
|
34. |
OMIM.ORG article
Omim 607380
|
Update: Aug. 14, 2020