Search results for "Stop codon"

showing 3 items of 43 documents

Integrated computational and experimental approaches for the identification of new molecules with readthrough activity on premature termination codon…

2015

cystic fibrosiscomputational approaches; readthrough; premature stop codon; cystic fibrosisreadthroughpremature stop codoncomputational approache
researchProduct

Novel molecules for the readthrough of PTCs in biological model systems and in cystic fibrosis cells

2016

readthrough; premature stop codons; PTC; cystic fibrosis; novel moleculesnovel moleculesPTCreadthroughpremature stop codoncystic fibrosi
researchProduct

Identification of a new nonsense mutation (Tyr129Stop) of the SRY gene in a newborn infant with XY sex-reversal.

2004

Point mutations and deletions of SRY gene have been described in several cases of XY gonadal dysgenesis. To date, most of these mutations affect the HMG domain of SRY which plays a central role in DNA binding activity of SRY. We report on a non-mosaic XY sex-reversed newborn girl (completely female external genitalia). The direct sequencing of SRY showed a new nonsense mutation in a codon of SRY gene flanking the 3' end of the HMG domain: a thymine is replaced by a guanine at position +387 in codon 129, resulting in the replacement of the amino acid tyrosine (TAT) by a stop codon (TAG). The new mutation of this patient provides further evidence to support the functional importance of the pu…

sex reversalNonsense mutationMolecular Sequence Datanonsense mutationDisorders of Sex DevelopmentGonadal dysgenesismutation SRY sex-reversal newbornBiologyXY gonadal dysgenesisGeneticsmedicineHumansGenes sryGeneGenetics (clinical)Geneticssex determining region YChromosomes Human YBase SequencePoint mutationInfant NewbornSex reversalSex Determination Processesmedicine.diseaseStop codongonadal dysgenesiTestis determining factorCodon NonsenseFemaleAmerican journal of medical genetics. Part A
researchProduct