exon 20
Detection of a novel mutation in exon 20 of the BRCA1 gene
... Abstract: Hereditary breast cancer constitutes 5-10% of all breast cancer cases. Inherited mutations in the BRCA1 and BRCA2 tumor-suppressor genes account for the majority of hereditary breast cancer cases. The BRCA1 ...
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Epidermal growth factor receptor exon 20 mutation in lung cancer: types, incidence, clinical features and impact on treatment
... Background: There are limited data available on the treatment and outcome of epidermal growth factor receptor (EGFR) exon 20-mutated lung cancer patients. Hence, we planned an analysis of the demographic ...
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Clinical characterization of <em>ERBB2</em> exon 20 insertions and heterogeneity of outcomes responding to afatinib in Chinese lung cancer patients
... these exon 20 insertions strictly followed the Human Genome Variation Society ...those exon 20 insertion subtypes and corresponding insert positions are demonstrated in Figure ...
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A novel canine model for Duchenne muscular dystrophy (DMD): single nucleotide deletion in DMD gene exon 20
... DMD exon 20, two additional non-synonymous substitutions were iden- tified in DMD exons 15 (position 27,697,781; serine AGC to asparagine AAC) and 34 (position 27,512,289; alanine GCG to serine ...
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Effectiveness of afatinib after ineffectiveness of gefitinib in an advanced lung adenocarcinoma patient with a single EGFR exon 20 S768I mutation: a case report
... and the standard uptake value was 5.8. Meanwhile, several masses sized 8 mm in the mediastinum were observed with- out increased radioactive uptake. On April 16, 2013, upper left lung resection and mediastinal lymph node ...
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Targeting EGFR exon 20 insertion mutations in non-small cell lung cancer.
... with exon 20 EGFR insertions? Anticipating the emergence of acquired resistance, Robichaux et ...EGFR exon 19 deletion/T790M/C797S triple mutants are resistant to poziotinib treatment in ...with ...
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<em>PIK3CA</em> gene mutation associated with poor prognosis of lung adenocarcinoma
... in exon 9, H1047R and H1047L mutation in exon 20), samples were loaded, in triplicate, into 96-well reaction plates, using the AmoyDx™ PIK3CA Five Mutation Detection Kit (Amoy Diagnostics Co, Ltd, ...
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<p>Recent Progress in Rare Oncogenic Drivers and Targeted Therapy For Non-Small Cell Lung Cancer</p>
... Lung cancer is the most common malignant disease with poor survival; the vast majority of cases are non-small cell lung cancer (NSCLC). The treatment strategy for NSCLC has been revolutionized by the discovery of ...
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Exploring insecticide resistance mechanisms in three major malaria vectors from Bangui in Central African Republic
... Figure 3. Genetic diversity pattern of fragment of VGSC spanning exon 20 in An. a) Haplotype diversity patterns of the 512 bp fragment in Bangui. b) TCS and tcsBU haplotype network sh[r] ...
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oa Molecular Diagnosis and Vaccines - Prognostic significance of activating FLT3 mutations in adults with acute myeloid leukemia
... relapse risk, decreased disease-free survival, decreased event free survival, and decreased over all survival, (Thiede et al., 2002, Kottaridis et al., 2001, Fenski et al., 2000) The FLT3/ITD occurrence in AML patients ...
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The Icelandic founder mutation BRCA2 999del5: analysis of expression
... in exon 20 of BRCA1, altering the reading frame after codon 1755 and terminating translation at codon 1829 [16] (our own investigation of the HCC1937 breast cancer cell line); and BRCA2 6174delT, which is ...
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Molecular determinants of drug-specific sensitivity for epidermal growth factor receptor (EGFR) exon 19 and 20 mutants in non-small cell lung cancer
... in exon 19 activates ...the exon 20 aberrations D770_P772del_ insKG and D770>GY because of positioning of the residues 747–750 close to the surface of the protein in the LREA ...the exon ...
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Similar levels of mRNA from the W1282X and the delta F508 cystic fibrosis alleles, in nasal epithelial cells
... Hybridization of DNA-PCR products of exon 20 with MnlI digested RT-PCR productstfrom region II generated from: two healthy individuals heterozygous for the W1282X mutation lanes I and 7;[r] ...
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The proximal first exon architecture of the murine ghrelin gene is highly similar to its human orthologue
... extended exon 1- containing Ghrl transcripts by transcript profiling in 36 normal mouse ...extended exon 1 species are predominantly expressed in the spleen, adrenal gland, stomach, skin, adipose tissue, ...
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MMSplice: modular modeling improves the predictions of genetic variant effects on splicing
... [34]. Exon skipping effects of 27,733 ExAC SNVs (red star) spanning or adjacent to 2339 exons were tested by genome integration of designed ...an exon with original exon inclusion index ...
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Getz_unc_0153M_17796.pdf
... A105V within Exon 4 and G>C = A182P, G>A = R199H, and G>A = G205S within Exon 6. G>A = R199H was associated with a somatic mutation found in Verruciform xanthoma tissues and the others have been ...
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E Cadherin exon 4 5, exon 7, exon 8, exon 9 and exon 16 mutations in sporadic infiltrating ductal carcinoma of the breast
... strength. Exon 14-16 encode for the cytoplasmic domain of the protein. Exon 16 is the terminal end of the gene encoding the cytoplasmic tail necessary for binding β catenin or ...
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A conserved gene family encodes transmembrane proteins with fibronectin, immunoglobulin and leucine-rich repeat domains (FIGLER)
... database, each of these proteins is predicted to contain 6– 12 LRR, one C2 Ig domain, one FNIII region, one hydro- phobic transmembrane region and one to four cytoplas- mic tyrosines. These molecules were provisionally ...
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Exon expression profiling reveals stimulus mediated exon use in neural cells
... Differential expression between each time point and the ini- tial time point was tested via a moderated t-test, and an over- all call for all times was generated via a moderated F-test [33]. Moderated t-tests and F-tests ...
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Modulation of in vitro splicing of the upstream intron by modifying an intra exon sequence which is deleted from the dystrophin gene in dystrophin Kobe
... that exon 19 of the dystrophin gene bearing 52-bp deletion was skipped during splicing, although the known consensus sequences at the 5' and 3' splice sites of exon 19 were maintained (Matsuo, ...of ...
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