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Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts.
Eintracht J, Forsythe E, May-Simera H, Moosajee M. Eintracht J, et al. EBioMedicine. 2021 Aug;70:103515. doi: 10.1016/j.ebiom.2021.103515. Epub 2021 Aug 5. EBioMedicine. 2021. PMID: 34365092 Free PMC article.
INTERPRETATION: The recovery of full-length BBS2 and ALMS1 expression and correction of anatomical and functional ciliary defects in BBS2(Y24*/R275*) and ALMS1(S1645*/S1645*) fibroblasts suggest TRIDs are a potential therapeutic option for the treatment of nonsense-mediated cilio …
INTERPRETATION: The recovery of full-length BBS2 and ALMS1 expression and correction of anatomical and functional ciliary defects in BBS2(Y2 …
The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders.
Patel A, Hayward JD, Tailor V, Nyanhete R, Ahlfors H, Gabriel C, Jannini TB, Abbou-Rayyah Y, Henderson R, Nischal KK, Islam L, Bitner-Glindzicz M, Hurst J, Valdivia LE, Zanolli M, Moosajee M, Brookes J, Papadopoulos M, Khaw PT, Cullup T, Jenkins L, Dahlmann-Noor A, Sowden JC. Patel A, et al. Ophthalmology. 2019 Jun;126(6):888-907. doi: 10.1016/j.ophtha.2018.12.050. Epub 2019 Jan 14. Ophthalmology. 2019. PMID: 30653986
CONCLUSIONS: The oculome test diagnoses a comprehensive range of genetic conditions affecting the development of the eye, potentially replacing protracted and costly multidisciplinary assessments and allowing for faster targeted management. ...
CONCLUSIONS: The oculome test diagnoses a comprehensive range of genetic conditions affecting the development of the eye, potentially rep …
12 results