Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Senior-Loken syndrome 9
TRAF3IP1

References:

1.

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

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2.

Boichis H et al. (1973) Congenital hepatic fibrosis and nephronophthisis. A family study.

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3.

Sayer JA et al. (2006) The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.

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4.

Godel V et al. (1979) Retinal manifestations in familial juvenile nephronophthisis.

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5.

Diekmann L et al. (1977) [Familial nephropathy with retinitis pigmentosa and peripheral dysostosis].

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6.

Avasthi PS et al. (1976) Hereditary renal-retinal dysplasia and the medullary cystic disease-nephronophthisis complex.

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7.

Hogewind BL et al. (1977) Electro-rentinal abnormalities in heterozygotes of renal-retinal dysplasia.

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8.

Proesmans W et al. (1975) Nephronophthisis and tapetoretinal degeneration associated with liver fibrosis.

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9.

Clarke MP et al. (1992) Senior-Loken syndrome. Case reports of two siblings and association with sensorineural deafness.

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10.

Schuman JS et al. (1985) Senior-Loken syndrome (familial renal-retinal dystrophy) and Coats' disease.

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11.

None (1969) Familial occurrence of congenital retinal blindness and developmental renal lesions.

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12.

Fontaine JL et al. (1970) [Tubulo-interstitial nephropathy in children with tapeto-retinal degeneration (Senior's syndrome. (1 case)].

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13.

Bois E et al. (1970) [Association of chronic tubulo-interstitial nephropathy and of tapeto-retinal degeneration. Genetic study].

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14.

None (1969) Hereditary renal-retinal dysplasia.

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15.

Mendley SR et al. (1995) Hereditary sclerosing glomerulopathy in the conorenal syndrome.

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16.

Antignac C et al. (1993) A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p.

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17.

Warady BA et al. (1994) Senior-Loken syndrome: revisited.

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18.

Caridi G et al. (1998) Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus.

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19.

Ling L et al. (2000) MIP-T3, a novel protein linking tumor necrosis factor receptor-associated factor 3 to the microtubule network.

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20.

Omran H et al. (2002) Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene.

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21.

Schuermann MJ et al. (2002) Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36.

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22.

Otto E et al. (2002) A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.

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23.

Olbrich H et al. (2003) Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.

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24.

LOKEN AC et al. (1961) Hereditary renal dysplasia and blindness.

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25.

SENIOR B et al. (1961) Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy.

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26.

Otto EA et al. (2005) Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.

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27.

None (1924) The Inheritance of a Retinal Abnormality in White Mice.

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28.

Omori Y et al. (2008) Elipsa is an early determinant of ciliogenesis that links the IFT particle to membrane-associated small GTPase Rab8.

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29.

Fairley KF et al. (1963) Familial Visual Defects Associated with Polycystic Kidney and Medullary Sponge Kidney.

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30.

Berbari NF et al. (2011) Mutations in Traf3ip1 reveal defects in ciliogenesis, embryonic development, and altered cell size regulation.

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31.

Bizet AA et al. (2015) Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.

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32.

Orphanet article

Orphanet ID 444522 [^]
33.

NCBI article

NCBI 26146 [^]
34.

OMIM.ORG article

Omim 607380 [^]
Update: April 29, 2019