Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons.
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Nonsense-Mediated mRNA Decay: Degradation of Defective Transcripts Is Only Part of the StoryEvaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage DiseasesAminoglycosides restore full-length type VII collagen by overcoming premature termination codons: therapeutic implications for dystrophic epidermolysis bullosa.The unfolded protein response affects readthrough of premature termination codonsForty years of research on xeroderma pigmentosum at the US National Institutes of Health.NMD: At the crossroads between translation termination and ribosome recycling.Expanding rare disease drug trials based on shared molecular etiologyA novel Werner Syndrome mutation: pharmacological treatment by read-through of nonsense mutations and epigenetic therapiesGTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient TrichothiodystrophyDevelopment of effective skin cancer treatment and prevention in xeroderma pigmentosum.Research on genodermatoses using novel genome-editing tools.RNA-based therapies for genodermatoses.Xeroderma pigmentosum: diagnostic procedures, interdisciplinary patient care, and novel therapeutic approaches.Small-molecule therapies for genetic skin fragility.Gentamicin induces functional type VII collagen in recessive dystrophic epidermolysis bullosa patientsOptimized approach for the identification of highly efficient correctors of nonsense mutations in human diseases.Bloom syndrome: research and data priorities for the development of precision medicine as identified by some affected families.
P2860
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P2860
Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons.
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name
Repair of UV photolesions in x ...... premature termination codons.
@en
Repair of UV photolesions in x ...... premature termination codons.
@nl
type
label
Repair of UV photolesions in x ...... premature termination codons.
@en
Repair of UV photolesions in x ...... premature termination codons.
@nl
prefLabel
Repair of UV photolesions in x ...... premature termination codons.
@en
Repair of UV photolesions in x ...... premature termination codons.
@nl
P2860
P50
P356
P1476
Repair of UV photolesions in x ...... f premature termination codons
@en
P2093
John J DiGiovanna
Richard A Gatti
P2860
P304
19483-19488
P356
10.1073/PNAS.1312088110
P407
P577
2013-11-11T00:00:00Z