Identification of a premature stop codon mutation in thePHGDHgene in severe Neu-Laxova syndrome-evidence for phenotypic variability

2015 ◽  
Vol 167 (6) ◽  
pp. 1323-1329 ◽  
Author(s):  
Eduardo P. Mattos ◽  
André Anjos da Silva ◽  
José Antônio A Magalhães ◽  
Júlio César L. Leite ◽  
Sandra Leistner-Segal ◽  
...  
Keyword(s):  
Stop Codon ◽  
Phenotypic Variability ◽  
Premature Stop Codon ◽  
Stop Codon Mutation ◽  
Codon Mutation

Oto-spondylo-megaepiphyseal dysplasia (OSMED): Clinical and radiological findings in sibs homozygous for premature stop codon mutation in theCOL11A2 gene

2006 ◽  
Vol 140A (11) ◽  
pp. 1189-1195 ◽  
Author(s):  
Samia A. Temtamy ◽  
Minna Männikkö ◽  
Ghada M.H. Abdel-Salam ◽  
Nihal A. Hassan ◽  
Leena Ala-Kokko ◽  
...  
Keyword(s):  
Stop Codon ◽  
Premature Stop Codon ◽  
Radiological Findings ◽  
Stop Codon Mutation ◽  
Codon Mutation

Funktionelle Relevanz der Stop-Codon Mutation rs61757459 in Vaspin (SerpinA12)

2013 ◽  
Vol 8 (S 01) ◽  
Author(s):  
J Breitfeld ◽  
JT Heiker ◽  
Y Böttcher ◽  
D Schleinitz ◽  
A Tönjes ◽  
...  
Keyword(s):  
Stop Codon ◽  
Stop Codon Mutation ◽  
Codon Mutation

A novel stop codon mutation in the PMP22 gene associated with a variable phenotype

2004 ◽  
Vol 14 (5) ◽  
pp. 313-320 ◽  
Author(s):  
K.T Abe ◽  
A.M.M Lino ◽  
M.T.A Hirata ◽  
R.C.M Pavanello ◽  
M.W.I Brotto ◽  
...  
Keyword(s):  
Stop Codon ◽  
Pmp22 Gene ◽  
Stop Codon Mutation ◽  
Variable Phenotype ◽  
Codon Mutation

Natural interferon- α treatment in chronic hepatitis B(HB) with pre-core stop codon mutation

1996 ◽  
Vol 30 (1) ◽  
pp. A36
Author(s):  
Y. Ito ◽  
Y. Yanase ◽  
M. Morita ◽  
M. Yamamoto ◽  
Y. Goto ◽  
...  
Keyword(s):  
Chronic Hepatitis ◽  
Hepatitis B ◽  
Chronic Hepatitis B ◽  
Stop Codon ◽  
Interferon Α ◽  
Stop Codon Mutation ◽  
Codon Mutation

A stop codon mutation in SCN9A causes lack of pain sensation

2007 ◽  
Vol 16 (17) ◽  
pp. 2114-2121 ◽  
Author(s):  
Sultan Ahmad ◽  
Leif Dahllund ◽  
Anders B. Eriksson ◽  
Dennis Hellgren ◽  
Urban Karlsson ◽  
...  
Keyword(s):  
Stop Codon ◽  
Pain Sensation ◽  
Stop Codon Mutation ◽  
Codon Mutation

scholarly journals Murine cytomegalovirus open reading frame m29.1 augments virus replication both in vitro and in vivo

2007 ◽  
Vol 88 (11) ◽  
pp. 2941-2951 ◽  
Author(s):  
Mohammad M. Ahasan ◽  
Clive Sweet
Keyword(s):  
Virus Replication ◽  
Post Infection ◽  
Stop Codon ◽  
Premature Stop Codon ◽  
Open Reading Frame ◽  
Murine Cytomegalovirus ◽  
Reading Frame ◽  
Codon Mutation

Murine cytomegalovirus mutant Rc29, with a premature stop codon mutation in the m29 open reading frame (ORF), produced no apparent phenotype in cell culture or following infection of BALB/c mice. In contrast, a similar mutant virus, Rc29.1, with a premature stop codon mutation in its m29.1 ORF, showed reduced virus yields (2–3 log10 p.f.u. ml−1) in tissue culture. Mutant virus yields in BALB/c mice were delayed, reduced (∼1 log10 p.f.u. per tissue) and persisted less well in salivary glands compared with wild-type (wt) and revertant (Rv29.1) virus. In severe combined immunodeficiency mice, Rc29.1 virus showed delayed and reduced replication initially in all tissues (liver, spleen, kidneys, heart, lung and salivary glands). This delayed death until 31 days post-infection (p.i.) compared with wt (23 days p.i.) but at death virus yields were similar to wt. m29 gene transcription was initiated at early times post-infection, while production of a transcript from ORF m29.1 in the presence of cycloheximide indicated that it was an immediate-early gene. ORFs m29.1 and M28 are expressed from a bicistronic message, which is spliced infrequently. However, it is likely that each ORF expresses its own protein, as antiserum derived in rabbits to the m29.1 protein expressed in bacteria from the m29.1 ORF detected only one protein in Western blot analysis of the size predicted for the m29.1 protein. Our results suggest that neither ORF is essential for virus replication but m29.1 is important for optimal viral growth in vitro and in vivo.

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