نتایج جستجو برای: premature stop codon

تعداد نتایج: 112089  

2014
Megan Furniss Claire A. Higgins Amalia Martinez-Mir Liran Horev Lynn Petukhova Andrija Stanimirović Jovan Miljković Abraham Zlotogorski Angela M. Christiano

palmoplantar keratoderma in patients from PPK01. Note the typical clinical presentation of more punctate lesions on the palms and more confluent lesions on the soles, demonstrating increased hyperkeratinization from mechanical trauma. (B) The pedigree for Israeli family PPK01 with sequencing results indicated below the patients (+ indicates wild-type,-indicates mutation). White indicates unaffe...

Journal: :Cell 1995
Y Li D. A Lacerda M. L Warman D. R Beier H Yoshioka Y Ninomiya J. T Oxford N. P Morris K Andrikopoulos F Ramirez B. B Wardell G. D Lifferth C Teuscher S. R Woodward B. A Taylor R. E Seegmiller B. R Olsen

Mice that are homozygous for the autosomal recessive chondrodysplasia (cho) mutation die at birth with abnormalities in cartilage of limbs, ribs, mandible, and trachea. Limb bones of newborn cho/cho mice are wider at the metaphyses than normal bones and only about half the normal length. By linkage analysis, the cho gene and the gene encoding the alpha 1 (XI) chain of cartilage collagen XI were...

Journal: :Journal of Medical Virology 2021

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is a novel responsible for the disease 2019 (COVID-19) pandemic. Chains of infections starting from various countries worldwide seeded outbreak COVID-19 in Athens, capital city Greece. A full-genome analysis isolates Athens' hospitals and other healthcare providers revealed variety SARS-CoV-2 that initiated pandemic before lockdown pa...

Journal: :EMBO reports 2001
O Namy I Hatin J P Rousset

The efficiency of translation termination is influenced by local contexts surrounding stop codons. In Saccharomyces cerevisiae, upstream and downstream sequences act synergistically to influence the translation termination efficiency. By analysing derivatives of a leaky stop codon context, we initially demonstrated that at least six nucleotides after the stop codon are a key determinant of read...

Journal: :Clinical genetics 2016
Wen-Tao He Chen Chen Chu Pan Mu-Xun Zhang Xue-Feng Yu Dao-Wen Wang Shu-Hong Hu

Sclerosteosis, characterized by the hyperostosis of cranial and tubular bones, is a rare autosomal recessive hereditary disorder caused by mutation of SOST gene. Four nonsense mutations of SOST have been identified worldwide. Here, we report two affected siblings who carried a novel nonsense mutation of SOST in a consanguineous family from China. The proband manifested typical symptoms of scler...

2014
Jason G. Underwood

opal UGA stop codon, whereas in the eukaryotes, it is the ochre UAA stop codon. Viruses reassigned the ochre UAA or amber UAG stop codons. The largest number of recoding events appeared in a sulfidic groundwater sample and in the human oral microbiome. In an artful use of reassignment, it appears that some phages use codon reassignment to hijack the host machinery to begin translate their own s...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1987
G Nilsson J G Belasco S N Cohen A von Gabain

Translational stop codons were introduced at various locations in the protein-coding regions of the monocistronic bla and ompA gene transcripts of Escherichia coli, and the decay characteristics of the upstream and downstream mRNA segments were analyzed. Premature termination of translation at codon position 26 reduced the stability of both the translated and ribosome-free segments of bla mRNA,...

2015
Kristin S Koutmou Anthony P Schuller Julie L Brunelle Aditya Radhakrishnan Sergej Djuranovic Rachel Green

Protein output from synonymous codons is thought to be equivalent if appropriate tRNAs are sufficiently abundant. Here we show that mRNAs encoding iterated lysine codons, AAA or AAG, differentially impact protein synthesis: insertion of iterated AAA codons into an ORF diminishes protein expression more than insertion of synonymous AAG codons. Kinetic studies in E. coli reveal that differential ...

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