et al. (2012) In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. Am. J. Hum. Genet., 91, 950- 957.Carmignac V; Thevenon J; Ades L;.In-frame mutations in exon 1 o{ SKI cause dominant Shprintzen-Goldberg syn- drome.Am J Hum Genet.2012.950-957...
Eight of twelve (66.7%) NFNS cases with non-truncating mutations had PS compared with a 1.1% PS frequency in NF1 in general (Po0.001); there was no increase in the frequency of PS in NFNS patients with truncating mutations. Eight out of eleven (73%) individuals with NF1 and PS, ...
RESEARCHOpen AccessAssessment of the structural and functionalimpact of in-frame mutations of the DMD gene,using the tools included in the eDystrophinonline databaseAurélie Nicolas1,2,3, Céline Lucchetti-Miganeh1,3,4, Rabah Ben Yaou5,6, Jean-Claude Kaplan6,7,8, Jamel Chelly6,7,8,France ...
as a valuable tool for exon skipping therapy. We collaborated with one of the two existing databases — the French UMD-DMD database [40] — resulting in the inclusion of all patients carrying in-frame mutations from the largest French cohort, for whom detailed genetic...
One frameshift and two in-frame mutations were constructed in the small region of the 5' end of the E5 ORF that follows the E2 stop codon and precedes the L2 ORF. Several hundred rabbit skin sites were inoculated with each DNA preparation with a jet injector to test the ability of three...
aMutations in EGFR—either small in-frame deletions in exon 19 or aminoacid substitution clustered around the ATP-binding pocket of the tyrosine kinase domain—are present in 10–26% of non-small-cell lung cancer (NSCLC)tumours and are associated with response to gefi tinib and erlotinib. ...
a clinical and genetic study Ying Wang, Kishin Koh, Michiaki Miwa, Nobuo Yamashiro, Kazumasa Shindo and Yoshihisa Takiyama To date, four families with spinocerebellar ataxia type 5 (SCA5) with four distinct mutations in the spectrin, beta, nonerythrocytic 2 gene (SPTBN2) have been reported wo...
In-frame mutations in the dystrophin gene lead to expression of a partially functional protein, resulting in the milder BMD. No effective therapies are ... M Meregalli,A Farini,D Parolini,... - 《Biodrugs》 被引量: 90发表: 2010年 Six Novel Transcripts That Remove a Huge Intron Ranging ...
aMutations in EGFR—either small in-frame deletions in exon 19 or aminoacid substitution (leucine to arginine at codon 858 [L858R]) clustered around the ATP-binding pocket of the tyrosine kinase domain—are present in 10–26% of non-small-cell lung cancer (NSCLC)tumours and are associated ...
(1)Both frameshift and missense mutations can be suppressed by intragenicsuppressors. 移码突变和异义突变都能被基因内抑制基因所抑制。 (2)These flat-ringed planar compounds intercalate with the cells 'nucleic ***.and actas frameshift mutagens and carcinogens. 这些平面扁平环形化合物能插入细胞的核...