Otof e841k
WebDefects in OTOF are the cause of deafness autosomal recessive type 9 (DFNB9) [MIM:601071]. DFNB9 is a form of sensorineural hearing loss. Sensorineural deafness … WebDefects in OTOF are the cause of deafness autosomal recessive type 9 (DFNB9) [MIM:601071]. DFNB9 is a form of sensorineural hearing loss. Sensorineural deafness …
Otof e841k
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Webp.E841K (Substitution - Missense, ... {OTOF_ENST00000338581}, 104854411{OTOF_ENST00000339598}, 122670041{OTOF_ENST00000402415} Tissue …
WebMay 11, 2024 · These IND-enabling nonclinical studies are promising and support future clinical development. Our team continues to work towards submission of INDs for AK … WebSep 19, 2024 · In April 2024, FDA granted both Orphan Drug Designation and Rare Pediatric Disease Designation for AK-OTOF. AK-OTOF Gene Therapy. AK-OTOF is a dual adeno-associated viral (AAV) vector-based gene therapy intended to treat patients with OTOF-mediated hearing loss by delivering transgenes encoding OTOF to the inner hair cells …
WebID: OTOF_HUMAN DESCRIPTION: RecName: Full=Otoferlin; AltName: Full=Fer-1-like protein 2; FUNCTION: Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle … WebThe short form of the encoded protein has three C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and …
WebThe Otof-Cre "knock-in" allele has a nuclear-localized Cre recombinase (NLS-Cre) inserted into the first coding ATG of the otoferlin (Otof) locus; this was designed to both abolish …
WebExpression of otoferlin in HEK293 cells following dual AAV-vector delivery. (Left) Schematic representation of the recombinant AAV-vector pair used in this study, and of the recombination, transcription, splicing, and translation processes producing the full-length protein otoferlin in coinfected cells.The recombinant AAV-Otof NT and AAV-Otof CT … customized graduation invitations for freeWebMay 11, 2024 · - Akouos continues to progress towards planned IND submissions for AK-OTOF in the first half of 2024 and for AK-antiVEGF in 2024. BOSTON, May 11, 2024 … chat room flooder softwareWebSep 22, 2024 · First-half 2024 financial highlights. Cash position. As of June 30, 2024, cash and cash equivalents amounted to €39m, compared to €50m at December 31, 2024. … customized graduation stole near meWebDec 1, 2024 · The OTOF gene spans an approximately 4954 bp transcript and encodes the 1230-amino acid protein otoferlin. In the inner ear, otoferlin is mainly expressed in the hair … chat room flooding softwareWebSep 14, 2024 · The FDA has cleared an investigational new drug (IND) application for Akouos’ AK-OTOF, an investigational dual adeno-associated viral (AAV) vector-based gene … chat room for adviceWebOct 7, 2024 · A Natural History Study in Individuals With Otoferlin Gene-mediated Hearing Loss. Actual Study Start Date : July 14, 2024. Estimated Primary Completion Date : … chat room for asperger syndromeWebMar 30, 2011 · Abstract. Cochlear inner hair cells (IHCs) use Ca 2+-dependent exocytosis of glutamate to signal sound information.Otoferlin (Otof), a C 2 domain protein essential for … chat room for anxiety