USH1C

USH1 protein network component harmonin
المعرفات
الأسماء المستعارة	renal carcinoma antigen NY-REN-3, Usher syndrome 1C (autosomal recessive, severe), USH1C, antigen NY-CO-38/NY-CO-37, Usher 1C, Protein PDZ-73, harmonin, autoimmune enteropathy-related antigen AIE-75, usher syndrome type-1C protein
معرفات خارجية
أورثولوج
	n/a
	n/a
	n/a
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	ويكي بيانات
اعرض/عدّل إنسان

USH1C‏ (USH1 protein network component harmonin) هوَ بروتين يُشَفر بواسطة جين USH1C في الإنسان.[1][2][3][2]

الوظيفة

المراجع

Ahmed ZM, Smith TN, Riazuddin S, Makishima T, Ghosh M, Bokhari S, Menon PS, Deshmukh D, Griffith AJ, Riazuddin S, Friedman TB, Wilcox ER (يونيو 2002)، "Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC"، Human Genetics، 110 (6): 527–31، doi:10.1007/s00439-002-0732-4، PMID 12107438.
Verpy E, Leibovici M, Zwaenepoel I, Liu XZ, Gal A, Salem N, Mansour A, Blanchard S, Kobayashi I, Keats BJ, Slim R, Petit C (سبتمبر 2000)، "A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C"، Nature Genetics، 26 (1): 51–5، doi:10.1038/79171، PMID 10973247.
"Entrez Gene: USH1C Usher syndrome 1C (autosomal recessive, severe)"، مؤرشف من الأصل في 05 ديسمبر 2010.

قراءة متعمقة

Maruyama K, Sugano S (يناير 1994)، "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides"، Gene، 138 (1–2): 171–4، doi:10.1016/0378-1119(94)90802-8، PMID 8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (أكتوبر 1997)، "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library"، Gene، 200 (1–2): 149–56، doi:10.1016/S0378-1119(97)00411-3، PMID 9373149.
Scanlan MJ, Chen YT, Williamson B, Gure AO, Stockert E, Gordan JD, Türeci O, Sahin U, Pfreundschuh M, Old LJ (مايو 1998)، "Characterization of human colon cancer antigens recognized by autologous antibodies"، International Journal of Cancer، 76 (5): 652–8، doi:10.1002/(SICI)1097-0215(19980529)76:5<652::AID-IJC7>3.0.CO;2-P، PMID 9610721.
Jain PK, Lalwani AK, Li XC, Singleton TL, Smith TN, Chen A, Deshmukh D, Verma IC, Smith RJ, Wilcox ER (يونيو 1998)، "A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene"، Genomics، 50 (2): 290–2، doi:10.1006/geno.1998.5320، PMID 9653658.
Saouda M, Mansour A, Bou Moglabey Y, El Zir E, Mustapha M, Chaib H, Nehmé A, Mégarbané A, Loiselet J, Petit C, Slim R (أغسطس 1998)، "The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region"، Human Genetics، 103 (2): 193–8، doi:10.1007/s004390050806، PMID 9760205.
Scanlan MJ, Williamson B, Jungbluth A, Stockert E, Arden KC, Viars CS, Gure AO, Gordan JD, Chen YT, Old LJ (أبريل 1999)، "Isoforms of the human PDZ-73 protein exhibit differential tissue expression"، Biochimica et Biophysica Acta، 1445 (1): 39–52، doi:10.1016/s0167-4781(99)00033-0، PMID 10209257.
Kobayashi I, Imamura K, Kubota M, Ishikawa S, Yamada M, Tonoki H, Okano M, Storch WB, Moriuchi T, Sakiyama Y, Kobayashi K (أكتوبر 1999)، "Identification of an autoimmune enteropathy-related 75-kilodalton antigen"، Gastroenterology، 117 (4): 823–30، doi:10.1016/S0016-5085(99)70340-9، PMID 10500064.
Scanlan MJ, Gordan JD, Williamson B, Stockert E, Bander NH, Jongeneel V, Gure AO, Jäger D, Jäger E, Knuth A, Chen YT, Old LJ (نوفمبر 1999)، "Antigens recognized by autologous antibody in patients with renal-cell carcinoma"، International Journal of Cancer، 83 (4): 456–64، doi:10.1002/(SICI)1097-0215(19991112)83:4<456::AID-IJC4>3.0.CO;2-5، PMID 10508479.
Bitner-Glindzicz M, Lindley KJ, Rutland P, Blaydon D, Smith VV, Milla PJ, Hussain K, Furth-Lavi J, Cosgrove KE, Shepherd RM, Barnes PD, O'Brien RE, Farndon PA, Sowden J, Liu XZ, Scanlan MJ, Malcolm S, Dunne MJ, Aynsley-Green A, Glaser B (سبتمبر 2000)، "A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene"، Nature Genetics، 26 (1): 56–60، doi:10.1038/79178، PMID 10973248.
Zwaenepoel I, Verpy E, Blanchard S, Meins M, Apfelstedt-Sylla E, Gal A, Petit C (2001)، "Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis"، Human Mutation، 17 (1): 34–41، doi:10.1002/1098-1004(2001)17:1<34::AID-HUMU4>3.0.CO;2-O، PMID 11139240.
Ishikawa S, Kobayashi I, Hamada J, Tada M, Hirai A, Furuuchi K, Takahashi Y, Ba Y, Moriuchi T (أبريل 2001)، "Interaction of MCC2, a novel homologue of MCC tumor suppressor, with PDZ-domain Protein AIE-75"، Gene، 267 (1): 101–10، doi:10.1016/S0378-1119(01)00378-X، PMID 11311560.
Ahmed ZM, Riazuddin S, Bernstein SL, Ahmed Z, Khan S, Griffith AJ, Morell RJ, Friedman TB, Riazuddin S, Wilcox ER (يوليو 2001)، "Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F"، American Journal of Human Genetics، 69 (1): 25–34، doi:10.1086/321277، PMC 1226045، PMID 11398101.
Savas S, Frischhertz B, Pelias MZ, Batzer MA, Deininger PL, Keats BB (يناير 2002)، "The USH1C 216G-->A mutation and the 9-repeat VNTR(t,t) allele are in complete linkage disequilibrium in the Acadian population"، Human Genetics، 110 (1): 95–7، doi:10.1007/s00439-001-0653-7، PMID 11810303.
Ouyang XM, Xia XJ, Verpy E, Du LL, Pandya A, Petit C, Balkany T, Nance WE, Liu XZ (يوليو 2002)، "Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness"، Human Genetics، 111 (1): 26–30، doi:10.1007/s00439-002-0736-0، PMID 12136232.
Siemens J, Kazmierczak P, Reynolds A, Sticker M, Littlewood-Evans A, Müller U (نوفمبر 2002)، "The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions"، Proceedings of the National Academy of Sciences of the United States of America، 99 (23): 14946–51، doi:10.1073/pnas.232579599، PMC 137525، PMID 12407180.
Boëda B, El-Amraoui A, Bahloul A, Goodyear R, Daviet L, Blanchard S, Perfettini I, Fath KR, Shorte S, Reiners J, Houdusse A, Legrain P, Wolfrum U, Richardson G, Petit C (ديسمبر 2002)، "Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle"، The EMBO Journal، 21 (24): 6689–99، doi:10.1093/emboj/cdf689، PMC 139109، PMID 12485990.
Weil D, El-Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Lainé S, Delmaghani S, Adato A, Nadifi S, Zina ZB, Hamel C, Gal A, Ayadi H, Yonekawa H, Petit C (مارس 2003)، "Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin"، Human Molecular Genetics، 12 (5): 463–71، doi:10.1093/hmg/ddg051، PMID 12588794.

بوابة علم الأحياء الخلوي والجزيئي
بوابة طب

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[pmid12107438-1] Ahmed ZM, Smith TN, Riazuddin S, Makishima T, Ghosh M, Bokhari S, Menon PS, Deshmukh D, Griffith AJ, Riazuddin S, Friedman TB, Wilcox ER (يونيو 2002)، "Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC"، Human Genetics، 110 (6): 527–31، doi:10.1007/s00439-002-0732-4، PMID 12107438.

[pmid10973247-2] Verpy E, Leibovici M, Zwaenepoel I, Liu XZ, Gal A, Salem N, Mansour A, Blanchard S, Kobayashi I, Keats BJ, Slim R, Petit C (سبتمبر 2000)، "A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C"، Nature Genetics، 26 (1): 51–5، doi:10.1038/79171، PMID 10973247.

[3] "Entrez Gene: USH1C Usher syndrome 1C (autosomal recessive, severe)"، مؤرشف من الأصل في 05 ديسمبر 2010.