USH2A

USH2A

Notation for gene for Usher type 2A syndrome.
References in periodicals archive ?
announced that they have entered into a partnership to develop QR-421a for Usher syndrome 2A caused by an exon 13 mutation of the causative USH2A gene.
Worldwide prevalence of arRP-associated mutations is reported as; USH2A (12%) ABCA4 (8%), PDE6B (7%), CNGB1 (6%), and PDE6A(5%).
Gene Retina Pineal CNGB1 * * CYP4V2 * IMPDH1 * MERTK1 * NPHP1 * PDE6A * PED6B * * PRPH2 * * RDH12 * * RDS * RHO * ROM1 * * RPGR * SPATA7 * TOPORS * TULP1 * * USH2A * * CHR14 * SNRNP200 * Table 2 Age-related macular degeneration gene expression.
Other significantly mutated single genes reported in TNBC include: USH2A, myosin IIIA (MYO3A), PTEN, retinoblastoma 1 (RB1), ataxia telangiectasia and Rad3 related (ATR), ubiquitin protein ligase E3 component n-recognin 1 (UBR1), collagen, type VI, alpha 3 (COL6A3), and several well-known oncogenes [v-raf murine sarcoma viral oncogene homolog B (BRAF), neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (ERBB2), and v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 (ERBB3)] (18,42,58).
11] APP, COL14A1, ROBO1, ITGAV, COL12A1, SCARB1, SCARB2, CNTN3, MFAP4, COL24A1, THBS2 multicellular 46 AEBP1, S100A6, HUS1, UTRN, 0,005 organismal GPM6B, POSTN, FKBP1A, ENPEP, development MYLIP, CBFB, PTK2, APP, ROBO1, CASP7, ITGAV, COL12A1, FBN2, LOX, USH2A, OLFM1, DCLK1, MLLT3, EGFL6, NRXN3, MAP1B, CHODL, ITGA2, AFF3, IGF2, SIRT1, COL5A1, CTNNBIP1, DKK3, MAN2A1, DACT1, CNTF, TMEM111, SFRP2, GRN, IRF1, SORT1, CNTN3, PSME4, COL1A1, CASQ2, MYH10 muscle organ 8 APP, AEBP1, CNTF, UTRN, CHODL, 0,008 development FKBP1A, SIRT1, MYH10 lipid 9 PTGES3, SAMD8, CYB5R1, AGPAT5, 0,026 biosynthetic C1QTNF3, LASS3, ALOX5AP, process SCARB1, ELOVL6 La interpretacion funcional mostro enriquecimiento en funciones estrechamente relacionadas con el desarrollo y adipogenesis del tejido muscular.
When they looked at a subset of individuals who were deaf and blind because of Usher syndrome, they found that mutations in a single gene, USH2A, caused both the disease and reduced sensitivity to touch.
Los tres genes mas comunmente implicados en la RP son: RHO (25% de la RP autosomica dominante); USH2A tambien conocido como Usherin (20% de la RP autosomica recesiva); RPGR (regulador de la retinitis pigmentosa GTPasa) 70 a 80% de la RP; y el gen EYS que fue identificado recientemente como el responsable de la RP autosomica recesiva en el locus RP25.