65 related articles for article (PubMed ID: 12469219)
1. Uncommon cytidine-homopolymer dimorphism in 5'-UTR of the human otoferlin gene.
Mirghomizadeh F; Pfister M; Blin N; Pusch CM
Int J Mol Med; 2003 Jan; 11(1):63-4. PubMed ID: 12469219
[TBL] [Abstract][Full Text] [Related]
2. A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness.
Yasunaga S; Grati M; Cohen-Salmon M; El-Amraoui A; Mustapha M; Salem N; El-Zir E; Loiselet J; Petit C
Nat Genet; 1999 Apr; 21(4):363-9. PubMed ID: 10192385
[TBL] [Abstract][Full Text] [Related]
3. Novel OTOF mutations in Brazilian patients with auditory neuropathy.
Romanos J; Kimura L; Fávero ML; Izarra FA; de Mello Auricchio MT; Batissoco AC; Lezirovitz K; Abreu-Silva RS; Mingroni-Netto RC
J Hum Genet; 2009 Jul; 54(7):382-5. PubMed ID: 19461658
[TBL] [Abstract][Full Text] [Related]
4. OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.
Yasunaga S; Grati M; Chardenoux S; Smith TN; Friedman TB; Lalwani AK; Wilcox ER; Petit C
Am J Hum Genet; 2000 Sep; 67(3):591-600. PubMed ID: 10903124
[TBL] [Abstract][Full Text] [Related]
5. Differential expression of otoferlin in brain, vestibular system, immature and mature cochlea of the rat.
Schug N; Braig C; Zimmermann U; Engel J; Winter H; Ruth P; Blin N; Pfister M; Kalbacher H; Knipper M
Eur J Neurosci; 2006 Dec; 24(12):3372-80. PubMed ID: 17229086
[TBL] [Abstract][Full Text] [Related]
6. A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.
Rodríguez-Ballesteros M; Reynoso R; Olarte M; Villamar M; Morera C; Santarelli R; Arslan E; Medá C; Curet C; Völter C; Sainz-Quevedo M; Castorina P; Ambrosetti U; Berrettini S; Frei K; Tedín S; Smith J; Cruz Tapia M; Cavallé L; Gelvez N; Primignani P; Gómez-Rosas E; Martín M; Moreno-Pelayo MA; Tamayo M; Moreno-Barral J; Moreno F; del Castillo I
Hum Mutat; 2008 Jun; 29(6):823-31. PubMed ID: 18381613
[TBL] [Abstract][Full Text] [Related]
7. Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan.
Choi BY; Ahmed ZM; Riazuddin S; Bhinder MA; Shahzad M; Husnain T; Riazuddin S; Griffith AJ; Friedman TB
Clin Genet; 2009 Mar; 75(3):237-43. PubMed ID: 19250381
[TBL] [Abstract][Full Text] [Related]
8. A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9.
Longo-Guess C; Gagnon LH; Bergstrom DE; Johnson KR
Hear Res; 2007 Dec; 234(1-2):21-8. PubMed ID: 17967520
[TBL] [Abstract][Full Text] [Related]
9. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
10. Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.
Vreugde S; Erven A; Kros CJ; Marcotti W; Fuchs H; Kurima K; Wilcox ER; Friedman TB; Griffith AJ; Balling R; Hrabé De Angelis M; Avraham KB; Steel KP
Nat Genet; 2002 Mar; 30(3):257-8. PubMed ID: 11850623
[TBL] [Abstract][Full Text] [Related]
11. Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness.
Mirghomizadeh F; Pfister M; Apaydin F; Petit C; Kupka S; Pusch CM; Zenner HP; Blin N
Neurobiol Dis; 2002 Jul; 10(2):157-64. PubMed ID: 12127154
[TBL] [Abstract][Full Text] [Related]
12. Results of cochlear implantation in two children with mutations in the OTOF gene.
Rouillon I; Marcolla A; Roux I; Marlin S; Feldmann D; Couderc R; Jonard L; Petit C; Denoyelle F; Garabédian EN; Loundon N
Int J Pediatr Otorhinolaryngol; 2006 Apr; 70(4):689-96. PubMed ID: 16226319
[TBL] [Abstract][Full Text] [Related]
13. Genomic organization of human arylamine N-acetyltransferase Type I reveals alternative promoters that generate different 5'-UTR splice variants with altered translational activities.
Butcher NJ; Arulpragasam A; Goh HL; Davey T; Minchin RF
Biochem J; 2005 Apr; 387(Pt 1):119-27. PubMed ID: 15487985
[TBL] [Abstract][Full Text] [Related]
14. Stem-loop structures II-IV of the 5' untranslated sequences are required for the expression of the full-length hepatitis C virus genome.
Qi ZT; Kalkeri G; Hanible J; Prabhu R; Bastian F; Garry RF; Dash S
Arch Virol; 2003 Mar; 148(3):449-67. PubMed ID: 12607098
[TBL] [Abstract][Full Text] [Related]
15. Five new OTOF gene mutations and auditory neuropathy.
Zadro C; Ciorba A; Fabris A; Morgutti M; Trevisi P; Gasparini P; Martini A
Int J Pediatr Otorhinolaryngol; 2010 May; 74(5):494-8. PubMed ID: 20211493
[TBL] [Abstract][Full Text] [Related]
16. Association of sporadic chondrocalcinosis with a -4-basepair G-to-A transition in the 5'-untranslated region of ANKH that promotes enhanced expression of ANKH protein and excess generation of extracellular inorganic pyrophosphate.
Zhang Y; Johnson K; Russell RG; Wordsworth BP; Carr AJ; Terkeltaub RA; Brown MA
Arthritis Rheum; 2005 Apr; 52(4):1110-7. PubMed ID: 15818664
[TBL] [Abstract][Full Text] [Related]
17. Multiple transcription initiation and alternative splicing in the 5' untranslated region of the core 2 beta1-6 N-acetylglucosaminyltransferase I gene.
Falkenberg VR; Alvarez K; Roman C; Fregien N
Glycobiology; 2003 Jun; 13(6):411-8. PubMed ID: 12626388
[TBL] [Abstract][Full Text] [Related]
18. Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome.
McAlinden A; Majava M; Bishop PN; Perveen R; Black GC; Pierpont ME; Ala-Kokko L; Männikkö M
Hum Mutat; 2008 Jan; 29(1):83-90. PubMed ID: 17721977
[TBL] [Abstract][Full Text] [Related]
19. Mutation screen of the membrane-type frizzled-related protein (MFRP) gene in patients with inherited retinal degenerations.
Pauer GJ; Xi Q; Zhang K; Traboulsi EI; Hagstrom SA
Ophthalmic Genet; 2005 Dec; 26(4):157-61. PubMed ID: 16352475
[TBL] [Abstract][Full Text] [Related]
20. Tissue specific glucocorticoid receptor expression, a role for alternative first exon usage?
Turner JD; Schote AB; Macedo JA; Pelascini LP; Muller CP
Biochem Pharmacol; 2006 Nov; 72(11):1529-37. PubMed ID: 16930562
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
