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2009 NOV 9 ... of endometrioid carcinomas, whereas non-endometrioid carcinomas show alterations of p53, loss of heterozygosity (LOH) on several chromosomes, as well as other molecular alterations (STK15, p16, ...
2009 NOV 16 ... admixed carcinoma of unknown origin, resolved using immunohistochemical and molecular loss-of-heterozygosity (LOH) profiling. The patient, a woman in her mid-70s, initially ...
2009 NOV 17 ... to intronic exonization. Additionally, diverse somatic mutations were identified, namely loss of heterozygosity a recurrent nonsense mutation, and a sequence mutation causing exon skipping," ...
2009 NOV 16 ... Oncology Reports, "The purpose of this study was to perform a whole-genome analysis of loss of heterozygosity (LOH) in tongue squamous cell carcinoma (SCC) using the Affymetrix 10K SNP Mapping ...
2009 NOV 2 ... of adult MG. MGs of ganp(Low) expression displayed more malignant characteristics, with loss of heterozygosity on chromosome 10, epidermal growth factor receptor gene amplification, and significantly ...
2009 OCT 13 ... However, because of the nearly identical anatomic location, molecular testing for loss of heterozygosity and BRAF mutation was performed to help further make this distinction. The first lesion ...
2009 OCT 26 ... We detected three novel disease-causing mutations, C59S, Q394X, and W602, for which a lossof function can be predicted. A G28S variation, found in two healthy probands, may be a ... of three nucleotides in exon 15 which resulted in the loss of amino acid threonine 535. Heterozygosity of this mutation in a male patient without any chromosomal aberrations suggests its ...
2009 NOV 23 ... with recurrent pyogenic infections and granulomatous inflammation, results from lossof phagocyte superoxide production by recessive mutations in any 1 of 4 genes encoding ... (fMLF) was unaffected. Genetic analysis of NCF4 showed compound heterozygosity for a frameshift mutation with premature stop codon and a missense mutation predicting a ...
2009 NOV 16 ... size. The present study revealed that allelic association at ApoB, LPL, Leptin loci and lossof telomere length may have strong genetic association with hypertensive individuals," ... which is expressed as T/S ratio. All the three loci are highly polymorphic, display high heterozygosity and conform to Hardy-Weinberg's equilibrium expectations. ApoB minisatellite displayed ...
2009 OCT 19 ... analysis of microsatellite instability, KRAS and BRAF genotyping, UGTIA1 genotyping, and loss of heterozygosity of 18 q loci. Immunohistochemistry was used to test expression of TERT, SMAD4, p53, and ...
2009 NOV 16 ... (E542K and E545K). There was over-representation but not amplification of the gene. Loss of heterozygosity of the PTEN region and homozygous deletion were found in 12% and 1.4% of tumors, and ...
2009 NOV 9 ... 6q16.2-q22.31, and 8p23.2-p12, amplification of 8q21.12, 8q22.3-q24.3 and 17p12, and loss of heterozygosity (LOH) at 2q24.3-q31.2, 5q11.2, 6p21.31-p21.1, 6q14.1-q16.2, 8p22-p12, 9q22.1, ...
2009 OCT 26 ... one or more genomic abnormalities including copy number changes or copy number neutral loss of heterozygosity (Group B). Two samples had copy number neutral...
2009 OCT 19 ... genetic diseases and in the pathogenesis of cancers. These deletions often generate loss of heterozygosity (LOH) of one of the alleles of a tumor suppressor gene," researchers in Kyoto, Japan ...
2009 NOV 9 ... According to a study from Tokorozawa, Japan, "Patterns of allele loss (loss of heterozygosity (LOH)) were studied to identify the genetic backgrounds underlying the two putative ...
2009 OCT 12 ... normal mucosa were analyzed for mtGI, nuclear microsatellite instability (nMSI), and loss of heterozygosity (LOH) of hMSH2, hMLH1, and p53 genes. Mitochondrial and nuclear alterations were ...
2009 OCT 20 ... in 36% of insulinomas and correlated with MSI-H (P = 0.008). Promoter methylation and loss of heterozygosity of MLH1 gene was found in 31 and 49% of insulinomas, respectively. Reduced expression of ...
2009 NOV 23 ... regarding apoptosis and cell cycle arrest. Earlier studies have shown allele specific loss of heterozygosity (LOH) at this particular site and we aimed to investigate its biological relevance in ...
2009 OCT 19 ... bilateral hyperintensity of the putamen, BPNH, and generalized atrophy." "Lossof ARFGEF2 function affects vesicle trafficking, proliferation/apoptosis, and ... periventricular nodular heterotopia (BPNH), and secondary microcephaly based on compound heterozygosity for two new ARFGEF2 mutations (c.2031_2038dup and c.3798_3802del), changing the limited ...
2009 NOV 2 ... in those pedigrees. In one of three informative sporadic cases of cHL, we detected loss of heterozygosity (LOH) for KLHDC8B in RS cells, but not reactive T lymphocytes, purified from a malignant ...
