NPHP3: Difference between revisions
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==Further reading== | ==Further reading== | ||
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Revision as of 19:59, 4 September 2012
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WikiDoc Resources for NPHP3 |
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Articles |
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Media |
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Evidence Based Medicine |
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Clinical Trials |
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Ongoing Trials on NPHP3 at Clinical Trials.gov Clinical Trials on NPHP3 at Google
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Guidelines / Policies / Govt |
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US National Guidelines Clearinghouse on NPHP3
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Books |
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News |
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Commentary |
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Definitions |
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Patient Resources / Community |
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Directions to Hospitals Treating NPHP3 Risk calculators and risk factors for NPHP3
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Healthcare Provider Resources |
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Continuing Medical Education (CME) |
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International |
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Business |
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Experimental / Informatics |
Nephronophthisis 3 (adolescent), also known as NPHP3, is a human gene.[1]
This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin and may function in renal tubular development and function. Mutations in this gene are associated with nephronophthisis type 3. Multiple splice variants have been described but their full-length nature has not been determined.[1]
References
Further reading
- Leipe DD, Koonin EV, Aravind L (2004). "STAND, a class of P-loop NTPases including animal and plant regulators of programmed cell death: multiple, complex domain architectures, unusual phyletic patterns, and evolution by horizontal gene transfer". J. Mol. Biol. 343 (1): 1–28. doi:10.1016/j.jmb.2004.08.023. PMID 15381417.
- Omran H, Fernandez C, Jung M; et al. (2000). "Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree". Am. J. Hum. Genet. 66 (1): 118–27. PMID 10631142.
- Omran H, Häffner K, Burth S; et al. (2001). "Human adolescent nephronophthisis: gene locus synteny with polycystic kidney disease in pcy mice". J. Am. Soc. Nephrol. 12 (1): 107–13. PMID 11134256.
- Omran H, Sasmaz G, Häffner K; et al. (2002). "Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene". J. Am. Soc. Nephrol. 13 (1): 75–9. PMID 11752023.
- Ohara O, Nagase T, Mitsui G; et al. (2003). "Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method". DNA Res. 9 (2): 47–57. PMID 12056414.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- Olbrich H, Fliegauf M, Hoefele J; et al. (2003). "Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis". Nat. Genet. 34 (4): 455–9. doi:10.1038/ng1216. PMID 12872122.
- Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.