USH1C

Usher syndrome 1C (autosomal recessive, severe), also known as USH1C, is a human gene. [cite web | title = Entrez Gene: USH1C Usher syndrome 1C (autosomal recessive, severe)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10083| accessdate = ]

PBB_Summary
section_title =
summary_text =

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=
*cite journal | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, "et al." |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=
*cite journal | author=Scanlan MJ, Chen YT, Williamson B, "et al." |title=Characterization of human colon cancer antigens recognized by autologous antibodies. |journal=Int. J. Cancer |volume=76 |issue= 5 |pages= 652–8 |year= 1998 |pmid= 9610721 |doi=
*cite journal | author=Jain PK, Lalwani AK, Li XC, "et al." |title=A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene. |journal=Genomics |volume=50 |issue= 2 |pages= 290–2 |year= 1998 |pmid= 9653658 |doi= 10.1006/geno.1998.5320
*cite journal | author=Saouda M, Mansour A, Bou Moglabey Y, "et al." |title=The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region. |journal=Hum. Genet. |volume=103 |issue= 2 |pages= 193–8 |year= 1998 |pmid= 9760205 |doi=
*cite journal | author=Scanlan MJ, Williamson B, Jungbluth A, "et al." |title=Isoforms of the human PDZ-73 protein exhibit differential tissue expression. |journal=Biochim. Biophys. Acta |volume=1445 |issue= 1 |pages= 39–52 |year= 1999 |pmid= 10209257 |doi=
*cite journal | author=Kobayashi I, Imamura K, Kubota M, "et al." |title=Identification of an autoimmune enteropathy-related 75-kilodalton antigen. |journal=Gastroenterology |volume=117 |issue= 4 |pages= 823–30 |year= 1999 |pmid= 10500064 |doi=
*cite journal | author=Scanlan MJ, Gordan JD, Williamson B, "et al." |title=Antigens recognized by autologous antibody in patients with renal-cell carcinoma. |journal=Int. J. Cancer |volume=83 |issue= 4 |pages= 456–64 |year= 1999 |pmid= 10508479 |doi=
*cite journal | author=Verpy E, Leibovici M, Zwaenepoel I, "et al." |title=A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. |journal=Nat. Genet. |volume=26 |issue= 1 |pages= 51–5 |year= 2000 |pmid= 10973247 |doi= 10.1038/79171
*cite journal | author=Bitner-Glindzicz M, Lindley KJ, Rutland P, "et al." |title=A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. |journal=Nat. Genet. |volume=26 |issue= 1 |pages= 56–60 |year= 2000 |pmid= 10973248 |doi= 10.1038/79178
*cite journal | author=Zwaenepoel I, Verpy E, Blanchard S, "et al." |title=Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis. |journal=Hum. Mutat. |volume=17 |issue= 1 |pages= 34–41 |year= 2001 |pmid= 11139240 |doi= 10.1002/1098-1004(2001)17:1<34::AID-HUMU4>3.0.CO;2-O
*cite journal | author=Ishikawa S, Kobayashi I, Hamada J, "et al." |title=Interaction of MCC2, a novel homologue of MCC tumor suppressor, with PDZ-domain Protein AIE-75. |journal=Gene |volume=267 |issue= 1 |pages= 101–10 |year= 2001 |pmid= 11311560 |doi=
*cite journal | author=Ahmed ZM, Riazuddin S, Bernstein SL, "et al." |title=Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. |journal=Am. J. Hum. Genet. |volume=69 |issue= 1 |pages= 25–34 |year= 2001 |pmid= 11398101 |doi=
*cite journal | author=Savas S, Frischhertz B, Pelias MZ, "et al." |title=The USH1C 216G-->A mutation and the 9-repeat VNTR(t,t) allele are in complete linkage disequilibrium in the Acadian population. |journal=Hum. Genet. |volume=110 |issue= 1 |pages= 95–7 |year= 2002 |pmid= 11810303 |doi= 10.1007/s00439-001-0653-7
*cite journal | author=Ahmed ZM, Smith TN, Riazuddin S, "et al." |title=Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. |journal=Hum. Genet. |volume=110 |issue= 6 |pages= 527–31 |year= 2002 |pmid= 12107438 |doi= 10.1007/s00439-002-0732-4
*cite journal | author=Ouyang XM, Xia XJ, Verpy E, "et al." |title=Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness. |journal=Hum. Genet. |volume=111 |issue= 1 |pages= 26–30 |year= 2002 |pmid= 12136232 |doi= 10.1007/s00439-002-0736-0
*cite journal | author=Siemens J, Kazmierczak P, Reynolds A, "et al." |title=The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 23 |pages= 14946–51 |year= 2003 |pmid= 12407180 |doi= 10.1073/pnas.232579599
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Boëda B, El-Amraoui A, Bahloul A, "et al." |title=Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle. |journal=Embo J. |volume=21 |issue= 24 |pages= 6689–99 |year= 2004 |pmid= 12485990 |doi=
*cite journal | author=Weil D, El-Amraoui A, Masmoudi S, "et al." |title=Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. |journal=Hum. Mol. Genet. |volume=12 |issue= 5 |pages= 463–71 |year= 2003 |pmid= 12588794 |doi=

PBB_Controls
update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = yes
update_citations = yes