Please provide your email address to receive an email when new articles are posted on . Ataluren preserved hand-to-mouth function in boys with nonsense mutation Duchenne muscular dystrophy. Ataluren ...
ELX-02 treatment improved podocyte foot process effacement in all three patients by an average of 60% based on a blinded kidney biopsy analysis by NIPOKA GmbH Biopsy results support clinical benefit ...
A novel nonsense variant in RTEL1 gene contributes to familial pulmonary fibrosis, emphasizing telomere-related gene mutations in interstitial lung disease. Genetic testing is essential for diagnosing ...
WATERTOWN, Mass., May 24, 2023 (GLOBE NEWSWIRE) -- Eloxx Pharmaceuticals, Inc. (ELOX), a leader in ribosomal RNA-targeted genetic therapies for rare diseases, today announced that the company intends ...
Many human diseases are caused by point mutations that affect RNA splicing. It has been observed that nonsense mutations that generate premature termination of translation products can drive the use ...
Between 10 to 15% of all genetic diseases have the same underlying cause: a nonsense mutation. 1 This type of mutation results from a stop codon in the middle of a gene sequence, which terminates ...
From infancy and usually for life, some families suffer from broken hair due to a congenital form of hair loss called monilethrix. Researchers at have now identified causative mutations in another ...
Viral whole genome study in the United States identifies ORF-disrupting mutations in monkeypox virus
In a recent study published in Viruses, researchers used whole genome sequencing to evaluate monkeypox virus samples from Washington and Ohio in the United States and identified 25 samples with open ...
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