Gallbladder Neoplasms: Tumors or cancer of the gallbladder.Nucleic Acid Hybridization: Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)Costimulatory and Inhibitory T-Cell Receptors: A family of receptors that modulate the activation of T-LYMPHOCYTES by the T-CELL ANTIGEN RECEPTOR. The receptors are responsive to one or more B7 ANTIGENS found on ANTIGEN-PRESENTING CELLS and, depending upon the specific ligand-receptor combination, modulate a variety of T-cell functions such as the rate of clonal expansion, CELL SURVIVAL and cytokine production. Although commonly referred to as costimulatory receptors, some of the receptors have inhibitory effects such as inducing PERIPHERAL TOLERANCE.Comparative Genomic Hybridization: A method for comparing two sets of chromosomal DNA by analyzing differences in the copy number and location of specific sequences. It is used to look for large sequence changes such as deletions, duplications, amplifications, or translocations.Gallbladder: A storage reservoir for BILE secretion. Gallbladder allows the delivery of bile acids at a high concentration and in a controlled manner, via the CYSTIC DUCT to the DUODENUM, for degradation of dietary lipid.Allelic Imbalance: A situation where one member (allele) of a gene pair is lost (LOSS OF HETEROZYGOSITY) or amplified.Biological Markers: Measurable and quantifiable biological parameters (e.g., specific enzyme concentration, specific hormone concentration, specific gene phenotype distribution in a population, presence of biological substances) which serve as indices for health- and physiology-related assessments, such as disease risk, psychiatric disorders, environmental exposure and its effects, disease diagnosis, metabolic processes, substance abuse, pregnancy, cell line development, epidemiologic studies, etc.Chromosome Aberrations: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.Gallbladder Diseases: Diseases of the GALLBLADDER. They generally involve the impairment of BILE flow, GALLSTONES in the BILIARY TRACT, infections, neoplasms, or other diseases.Cell Line, Tumor: A cell line derived from cultured tumor cells.Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Stochastic Processes: Processes that incorporate some element of randomness, used particularly to refer to a time series of random variables.Radiography, Dual-Energy Scanned Projection: A method of producing a high-quality scan by digitizing and subtracting the images produced by high- and low-energy x-rays.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Reproducibility of Results: The statistical reproducibility of measurements (often in a clinical context), including the testing of instrumentation or techniques to obtain reproducible results. The concept includes reproducibility of physiological measurements, which may be used to develop rules to assess probability or prognosis, or response to a stimulus; reproducibility of occurrence of a condition; and reproducibility of experimental results.Genomic Imprinting: The variable phenotypic expression of a GENE depending on whether it is of paternal or maternal origin, which is a function of the DNA METHYLATION pattern. Imprinted regions are observed to be more methylated and less transcriptionally active. (Segen, Dictionary of Modern Medicine, 1992)Gene Expression Profiling: The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.BRCA1 Protein: The phosphoprotein encoded by the BRCA1 gene (GENE, BRCA1). In normal cells the BRCA1 protein is localized in the nucleus, whereas in the majority of breast cancer cell lines and in malignant pleural effusions from breast cancer patients, it is localized mainly in the cytoplasm. (Science 1995;270(5237):713,789-91)Genes, BRCA1: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways.BRCA2 Protein: A large, nuclear protein, encoded by the BRCA2 gene (GENE, BRCA2). Mutations in this gene predispose humans to breast and ovarian cancer. The BRCA2 protein is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (from Genes Dev. 2000;14(11):1400-6)Genes, BRCA2: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human chromosome 13 at locus 13q12.3. Mutations in this gene predispose humans to breast and ovarian cancer. It encodes a large, nuclear protein that is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (from Genes Dev 2000;14(11):1400-6)Carcinoma, Ductal, Breast: An invasive (infiltrating) CARCINOMA of the mammary ductal system (MAMMARY GLANDS) in the human BREAST.Carcinoma, Intraductal, Noninfiltrating: A noninvasive (noninfiltrating) carcinoma of the breast characterized by a proliferation of malignant epithelial cells confined to the mammary ducts or lobules, without light-microscopy evidence of invasion through the basement membrane into the surrounding stroma.Carcinoma, Ductal: Malignant neoplasms involving the ductal systems of any of a number of organs, such as the MAMMARY GLANDS, the PANCREAS, the PROSTATE, or the LACRIMAL GLAND.Breast Neoplasms: Tumors or cancer of the human BREAST.Carcinoma in Situ: A lesion with cytological characteristics associated with invasive carcinoma but the tumor cells are confined to the epithelium of origin, without invasion of the basement membrane.High-Throughput Nucleotide Sequencing: Techniques of nucleotide sequence analysis that increase the range, complexity, sensitivity, and accuracy of results by greatly increasing the scale of operations and thus the number of nucleotides, and the number of copies of each nucleotide sequenced. The sequencing may be done by analysis of the synthesis or ligation products, hybridization to preexisting sequences, etc.Sequence Analysis, RNA: A multistage process that includes cloning, physical mapping, subcloning, sequencing, and information analysis of an RNA SEQUENCE.Cells, Cultured: Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.Transcriptome: The pattern of GENE EXPRESSION at the level of genetic transcription in a specific organism or under specific circumstances in specific cells.Bibliometrics: The use of statistical methods in the analysis of a body of literature to reveal the historical development of subject fields and patterns of authorship, publication, and use. Formerly called statistical bibliography. (from The ALA Glossary of Library and Information Science, 1983)High-Throughput Screening Assays: Rapid methods of measuring the effects of an agent in a biological or chemical assay. The assay usually involves some form of automation or a way to conduct multiple assays at the same time using sample arrays.HandbooksManuals as Topic: Books designed to give factual information or instructions.BooksIn Situ Hybridization: A technique that localizes specific nucleic acid sequences within intact chromosomes, eukaryotic cells, or bacterial cells through the use of specific nucleic acid-labeled probes.Cartoons as Topic: Images used to comment on such things as contemporary events, social habits, or political trends; usually executed in a broad or abbreviated manner.In Situ Hybridization, Fluorescence: A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.Carcinoma: A malignant neoplasm made up of epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases. It is a histological type of neoplasm but is often wrongly used as a synonym for "cancer." (From Dorland, 27th ed)Immunohistochemistry: Histochemical localization of immunoreactive substances using labeled antibodies as reagents.Allied Health Occupations: Occupations of medical personnel who are not physicians, and are qualified by special training and, frequently, by licensure to work in supporting roles in the health care field. These occupations include, but are not limited to, medical technology, physical therapy, physician assistant, etc.

Abnormal expression of the ATM and TP53 genes in sporadic breast carcinomas. (1/219)

The ataxia telangiectasia gene (ATM) has been implicated as a risk factor in the development of sporadic breast carcinomas. ATM protein expression was analyzed by immunohistochemistry in 17 breast carcinomas with two monoclonal antibodies whose immunohistochemical use was first validated by comparing the immunoreactivity observed in spleen samples from ataxia telangiectasia and trauma patients. In normal breast ducts, ATM showed nuclear expression in the epithelial but not in the myoepithelial cells. In contrast, this nuclear expression was absent or low in the epithelial cancer cells in 10 of 17 (59%) of the tumors studied. Allelic imbalance in the ATM gene was found in three of seven tumors examined. Two of these showed reduced ATM protein expression, but this did not correlate with the presence of ATM mutations in the tumor DNA detected by restriction endonuclease fingerprinting screening. These results suggest that the reduced ATM protein expression could be attributable, in certain tumors, to deletions or rearrangements within or close to the ATM gene. Positive p53 immunostaining was found in 10 tumors, with TP53 mutations detected in 8. Three tumors had both low ATM expression and mutated TP53. Our results indicate that in the majority (15 of 17) of the sporadic breast carcinomas examined, not only is the functionality of the ATM-p53-mediated DNA damage response compromised, but also other signaling pathways activated by these two multifunctional proteins are likely to be impaired, which could be a contributing factor to tumor development and progression.  (+info)

Survey of genetic alterations in gastrinomas. (2/219)

Gastrinomas are rare gastrin-secreting endocrine tumors that usually arise in the duodenum or pancreas and, if untreated, can cause severe peptic ulcers or metastatic disease. Although most tumors are sporadic they are especially common in patients with multiple endocrine neoplasia type 1 (MEN1), and most studies of these tumors have focused on the role of the MEN1 gene. Although the gene is commonly altered in sporadic tumors, this finding is not universal, and it is highly likely that other genetic defects play a significant role. In the present study, an in-depth analysis of the DNA of eight tumors was carried out in an effort to localize these areas. The experiments consisted of an analysis of 400 microsatellite marker loci distributed evenly throughout the human genome, and the results were confirmed with comparative genomic hybridization. Whereas deletions encompassing the MEN1 gene were seen in two tumors, the most striking result was multiple large rearrangements on chromosome 1 in two of the tumors with hepatic metastases. In several instances, an individual tumor had abnormalities of every informative maker on a given chromosome, presumably as a result of aneuploidy affecting that chromosome. Such defects were only seen in the four large or aggressive tumors, and the total number of chromosomes affected in a tumor ranged from 1 to a high of 13 in a patient who had an unusually aggressive tumor This tumor also showed microsatellite instability, and this is the first report of such a defect in gastrinomas. This study implicates chromosome 1 defects, aneuploidy, and perhaps mismatch repair defects as importan features of gastrinomas; deletions involving the MEN1 gene were con firmed, but the rest of the genome was free of large deletions or amplifications.  (+info)

The RB1 gene is the target of chromosome 13 deletions in malignant fibrous histiocytoma. (3/219)

Forty-four malignant fibrous histiocytomas (MFHs) were studied by comparative genomic hybridization. Among the observed imbalances, losses of the 13q14-q21 region were observed in almost all tumors (78%), suggesting that a gene localized in this region could act as a tumor suppressor gene and that its inactivation could be relevant for MFH oncogenesis and/or progression. We determined by CA repeat analyses a consensus region of deletion focusing on the RB1 region. The RB1 gene was then analyzed by protein truncation test, direct sequencing, fluorescence in situ hybridization, Southern blotting, and immunohistochemistry. RB1 mutations and/or homozygous deletions were found in 7 of the 34 tumors analyzed (20%). Among the 35 tumors with comparative genomic hybridization imbalances analyzed by immunohistochemistry, 30 (86%) did not exhibit significant nuclear labeling. The high correlation between chromosome 13 losses and absence of RB1 protein expression and the mutations detected strongly suggest that RB1 gene inactivation is a pivotal event in MFH oncogenesis. Moreover, the observation of a high incidence of MFH in patients previously treated for hereditary retinoblastoma fits well this hypothesis.  (+info)

Immunohistochemical analysis of expression and allelotype of mismatch repair genes (hMLH1 and hMSH2) in bladder cancer. (4/219)

Mutation of human homologues of DNA mismatch repair (MMR) genes in tumours has been shown to be associated with the phenomenon of microsatellite instability (MSI). Several studies have reported the occurrence of MSI in bladder cancer, but evidence of involvement of MMR genes in the pathogenesis of this cancer is still unclear. We therefore utilized quantitative immunohistochemical (IHC) image analysis and PCR-based allelotype analysis to determine hMLH1 and hMSH2 genes alteration in a cohort of Egyptian bladder cancer samples. IHC analysis of 24 TCC and 12 SCC revealed marked- intra and intertumour heterogeneity in the levels of expression of the two MMR proteins. One TCC lost MLH1 expression and one lost MSH2, (1/24, 4%), and one SCC lost MSH2 (1/12, 8%). A large proportion of analysed tumours revealed a percentage positivity of less than 50% for MLH1 and MSH2 expression (44% and 69%, respectively). Complete loss of heterozygosity in three dinucleotide repeats lying within, or in close proximity to, hMLH1 and hMSH2 was rare (2/57, (4%) for MLH1; and 1/55, (2%) for MSH2), however allelic imbalance was detected in 11/57 (hMLH1) and 10/55 (hMSH2) at any of the informative microsatellite loci. These alterations in structure and expression of DNA MMR genes suggest their possible involvement in the tumorigenesis and/or progression of bladder cancer.  (+info)

Evidence that genetic instability occurs at an early stage of colorectal tumorigenesis. (5/219)

Chromosomal instability is believed to be a common feature of most human tumors, but the stage at which such instability originates has not been defined. At the molecular level, chromosomal instability is characterized by allelic imbalance (AI), representing losses or gains of defined chromosomal regions. We have assessed AI in early colorectal tumors using newly developed methods for assessing AI in complex cell populations. A total of 32 adenomas of average size (2 mm; range, 1-3 mm) were studied. AI of chromosome 5q markers occurred in 55% of tumors analyzed, consistent with a gatekeeping role of the adenomatous polyposis coli tumor suppressor gene located at chromosomal position 5q21. AI was also detected in each of the other four chromosomes tested. The fractions of adenomas with AI of chromosomes 1p, 8p, 15q, and 18q were 10,19, 28, and 28%, respectively. Over 90% of the tumors exhibited AI of at least one chromosome, and 67% had allelic imbalance of a chromosome other than 5q. These findings demonstrate that AI is a common event, even in very small tumors, and suggest that chromosomal instability occurs very early during colorectal neoplasia.  (+info)

Chromosomal alterations in lung adenocarcinoma from smokers and nonsmokers. (6/219)

The etiology of lung tumors arising in nonsmokers remains unclear. Although mutations in the K-ras and p53 genes have been reported to be significantly higher in smoking-related lung carcinomas, in the present study we performed a more comprehensive analysis in search of additional genetic changes between lung adenocarcinoma from tobacco- and non-tobacco-exposed patients. We selected a matched cohort of 18 lifetime nonsmoking and 27 smoking patients diagnosed with primary adenocarcinoma of the lung and searched for chromosomal alterations in each tumor by testing normal and tumor tissue with 54 highly polymorphic microsatellite markers located on 28 different chromosomal arms. Allelic losses or gains at chromosomal arms 3p (37 versus 6%), 6q (46 versus 12%), 9p (65 versus 22%), 16p (28 versus 0%), 17p (45 versus 11%), and 19p (58 versus 16%) were present significantly more often in adenocarcinomas from smokers than from nonsmokers. Chromosomal arms showing allelic imbalance in lung tumors from nonsmokers were rare but occurred more often at 19q (22%), 12p (22%), and 9p (22%). The FAL (fractional allelic loss or gain) is defined as the percentage of chromosomal arm losses/gains among the total informative chromosomal arms. Tumors from smokers harbored higher levels of FAL (13 (48%) of 27 showed FAL > or = 0.3) compared with the lung tumors from the nonsmoker patients (2 (11%) of 18 showed FAL > or = 0.3; P = 0.02; odds ratio, 0.13; 95% confidence interval, 0.01-0.79). Our data demonstrate that widespread chromosomal abnormalities are frequent in lung adenocarcinoma from smokers, whereas these abnormalities are infrequent in such tumors arising in nonsmokers. These observations support the notion that lung cancers in nonsmokers arise through genetic alterations distinct from the common events observed in tumors from smokers.  (+info)

Molecular cytogenetic evaluation of gastric cardia adenocarcinoma and precursor lesions. (7/219)

Analyses of cancer incidence data in the United States and Western Europe revealed steadily rising rates over the past decades of adenocarcinomas of the esophagus and gastric cardia. Genetic information on gastric cardia adenocarcinoma and its preneoplasias is sparse. We have used comparative genomic hybridization to obtain a genome-wide overview of 20 archival gastric cardia adenocarcinomas and 10 adjacent preneoplastic lesions (4 metaplasias, 1 low-grade dysplasia, 5 high-grade dysplasias). Multiple genetic alterations were discriminated in all adenocarcinomas. Frequent loss (> or =25% of all tumors) was detected, in decreasing order of frequency, on 5q, 18q, 4q, 3p, 9p, 2q, 11q, 14q, 21q, 4p, 9q, 16q, 1p, and 8p. Frequent gain (> or =25% of all tumors) was disclosed, in decreasing order of frequency, on 20q, 7p, 8q, 1q, 7q, 20p, 17q, 13q, Xp, 6q, 8p, 19q, 5p, 6p, and Xq. Loss of the Y chromosome was found in 60% of male cases. High level amplification was frequently (>10% of all tumors) detected on 7q21, 8p22, 12p11.2, 17q12-q21, and 19q13.1-q13.2. The precursor lesions showed multiple aberrations in all high-grade dysplasias, whereas few genetic changes were discerned in LGD and metaplasias. High level amplifications were also found in high-grade dysplasias, ie, on 7q21, 8p22, and 17q12-q21. Moreover, the percentage of aberrations was not significantly different for invasive carcinomas or high-grade dysplasias. Approximately 70% of the precursor aberrations were also present in the adjacent carcinoma. Minimal overlapping regions in the preneoplasias included loss on 18q12-q21 and gains on 8q23 and 17q12-q21, suggesting involvement of genes residing in these regions. In conclusion, we have (i) created a map of genetic alterations in gastric cardia adenocarcinomas and (ii) provided evidence for the presence of a metaplasia-dysplasia-carcinoma sequence in this poorly understood type of cancer.  (+info)

Familial/bilateral and sporadic testicular germ cell tumors show frequent genetic changes at loci with suggestive linkage evidence. (8/219)

Testicular germ cell tumor (TGCT) is the most common tumor type among adolescent and young adult males. Familial clustering and bilateral disease are suggestive of a genetic predisposition among a subgroup of these patients, but susceptibility genes for testicular cancer have not yet been identified. However, suggestive linkage between disease and genetic markers has been reported at loci on chromosome arms 3q, 5q, 12q, 18q, and Xq. We have analyzed primary familial/bilateral (n=20) and sporadic (n=27) TGCTs, including 28 seminomas and 19 nonseminomas, for allelic imbalance (AI) within the autosomal regions. DNA from all tumors were analyzed by fluorescent polymerase chain reaction of 22 polymorphic loci at 3q27-ter, 5q13-35.1, 12q21-ter, and 18q12--ter. All tumor genotypes were evaluated against their corresponding constitutional genotypes. The percentages of TGCTs with genetic changes at 3q, 5q, 12q, and 18q, were 79%, 36%, 53% and 43%, respectively. The frequencies at 3q and 12q in nonseminomas were significantly higher than in seminomas (P=.003 and P=.004). In order to evaluate changes at hemizygous Xq loci, five loci were analyzed by co-amplification with an autosomal reference marker known to reveal retained heterozygosity in the tumor DNA. Gain of Xq sequences was seen in more than 50% of the tumors. The degree of amplification varied among the loci in each of five tumors, and based on these breakpoints, a common region of overlapping gains was found at Xq28. No significant differences were found between the frequencies of genetic changes in familial/bilateral versus sporadic tumors, an observation speaking in disfavor of the existence of a single susceptibility gene for TGCT in any of the analyzed regions. Our data suggest that gain of genetic material at distal Xq and losses at 5q and 18q contribute to establishment of seminomas, whereas imbalances at 3q as well as gain at distal part of 12q are associated with further progression into nonseminomas.  (+info)

*ANAPC2

2001). "Human APC2 localization and allelic imbalance". Cancer Res. 61 (21): 7978-84. PMID 11691822. Strausberg RL, Feingold EA ...

*SNP array

High density SNP arrays help scientists identify patterns of allelic imbalance. These studies have potential prognostic and ... Copy-neutral LOH is a form of allelic imbalance. In copy-neutral LOH, one allele or whole chromosome from a parent is missing. ... "Genome-wide detection of allelic imbalance using human SNPs and high-density DNA arrays". Genome Research. 10 (8): 1126-37. doi ...

*Tumour heterogeneity

Allelic imbalances may be difficult to verify using microsatellite markers, therefore requiring verification by an independent ... This may occur through the detection of allelic imbalances (tumour DNA is compared to germline DNA), amplification of ... CGH provides unbiased coverage and allows for small-scale allelic imbalances to be detected (SNP arrays). Sequencing will ... Geng, Yu (2017). "Identifying Heterogeneity Patterns of Allelic Imbalance on Germline Variants to Infer Clonal Architecture". ...

*Cyclin D1

... allelic imbalance and overexpression in sporadic human pituitary tumors". Clinical Cancer Research. 5 (8): 2133-9. PMID ...

*Silkie

May 2011). "The chicken polydactyly (Po) locus causes allelic imbalance and ectopic expression of Shh during limb development ...

*Virtual karyotype

... which have allelic imbalance at a number of chromosomal loci, including 5q, 8p, 17p, and 18q (Fig 7). Microsatellite ... "Prevalence and prognostic impact of allelic imbalances associated with leukemic transformation of Philadelphia chromosome- ... Allelic losses on 1p and 19q, either separately or combined, are more common in classic oligodendrogliomas than in either ... Barbashina V, Salazar P, Holland EC, Rosenblum MK, Ladanyi M (1 February 2005). "Allelic losses at 1p36 and 19q13 in gliomas: ...

*List of RNA-Seq bioinformatics tools

MMSEQ MMSEQ is a pipeline for estimating isoform expression and allelic imbalance in diploid organisms based on RNA-Seq. The ...

*PTPRD

"Allelic imbalances and microdeletions affecting the PTPRD gene in cutaneous squamous cell carcinomas detected using single ...

*Molecular Inversion Probe

MIP, for instance, can be used to capture targets for SNPgenotyping, copy number variation or allelic imbalance studies, to ...

*Mevalonate kinase

2010). "Allelic expression imbalance at high-density lipoprotein cholesterol locus MMAB-MVK". Hum. Mol. Genet. 19 (10): 1921-9 ...

*RASEF

It appears to be the mechanism targeting RASEF in uveal melanoma, and allelic imbalance at this locus supports a TSG role for ...

*RNA-Seq

They also accurately evaluated the allelic imbalance (AI), ratio of the transcripts produced by the single alleles, within a ... 2010). "Tumor transcriptome sequencing reveals allelic expression imbalances associated with copy number alterations". PLoS ONE ...

*List of MeSH codes (G13)

... allelic imbalance MeSH G13.920.590.029.530 --- loss of heterozygosity MeSH G13.920.590.029.530.175 --- chromosome deletion MeSH ...

*Online Mendelian Inheritance in Man

For example, allelic variants in the HBB gene (141900) are numbered 141900.0001 through 141900.0538. Because OMIM has ... DECIPHER, a database of chromosomal imbalance and associated phenotype in humans, using Ensembl resources. MARRVEL, a website ... "Hemoglobin beta locus or HBB (141900): Allelic variants". Online Mendelian Inheritance in Man. Baltimore, MD: McKusick-Nathans ... In cases of allelic heterogeneity, the MIM number of the entry is followed by a decimal point and a unique 4-digit number ...

*Human genetics

To correct this imbalance, mammalian females have evolved a unique mechanism of dosage compensation. In particular, by way of ... The Hardy-Weinberg principle is a widely used principle to determine allelic and genotype frequencies. In addition to nuclear ...

*Contiguous gene syndrome

A segmental aneuploidy syndrome is a subtype of CGS that regularly recur, usually due to non-allelic homologous recombination ... Mechanisms and Consequences of Gene Dosage Imbalance". In Scriver, C.W.; Beaudet, A.L.; Sly, W.S.; et al. Metabolic and ...

*Lymphangioleiomyomatosis

On a cellular basis, LAM cells carry bi-allelic inactivation of the TSC2 genes, consistent with the "two-hit" tumor suppressor ... Lung remodeling may be mediated by an imbalance between matrix degrading metalloproteinases (MMPs) and their endogenous ...

*Surfactant protein A1

Karinch AM, Floros J (Jan 1995). "5' splicing and allelic variants of the human pulmonary surfactant protein A genes". American ... Floros J, Wang G (May 2001). "A point of view: quantitative and qualitative imbalance in disease pathogenesis; pulmonary ...

*Medical genetics

Reich DA, Lander ES (2001). "On the allelic spectrum of human disease". Trends Genet. 17: 502-510. doi:10.1016/s0168-9525(01) ... Biochemical studies are performed to screen for imbalances of metabolites in the bodily fluid, usually the blood (plasma/serum ... Smith DJ, Lusis AJ (2002). "The allelic structure of common disease". Hum Mol Genet. 11: 2455-2461. doi:10.1093/hmg/11.20.2455 ... Morton NE, Collins A (1998). "Tests and estimates of allelic association in complex inheritance". Proc Natl Acad Sci USA. 95: ...

*Causes of schizophrenia

While some of these explanations may stretch credulity, others (such as heavy metal poisoning and nutritional imbalances) have ... CNVs occur due to non-allelic homologous recombination mediated by low copy repeats (sequentially similar regions). This ...

*Biology of depression

November 2006). "Elevated monoamine oxidase a levels in the brain: An explanation for the monoamine imbalance of major ... depending on an allelic variation of the serotonin-transporter-linked promoter region (5-HTTLPR). Soon after, the results were ...

*Surfactant protein A2

Karinch AM, Floros J (January 1995). "5' splicing and allelic variants of the human pulmonary surfactant protein A genes". ... Floros J, Wang G (May 2001). "A point of view: quantitative and qualitative imbalance in disease pathogenesis; pulmonary ...
In an initial investigation of differential expression of genes caused by cis-acting regulatory elements in rice, the lack of reproducibility led us to question the basic premise of allelic expression imbalance determination: namely that departures of cDNA expression ratios from those observed in genomic DNA provide unequivocal evidence of cis-acting polymorphisms. This paper describes experiments designed to demonstrate that stochastic variation in low copy number of targets in PCR reactions give variable allelic ratios even when starting with the same copy numbers of the two alleles. These significant departures from an expected 1:1 ratio provide an explanation to the lack of reproducibility observed for our cDNA measurements ...
UCL Discovery is UCLs open access repository, showcasing and providing access to UCL research outputs from all UCL disciplines.
Osteoarthritis (OA) is a common debilitating disease resulting from the degeneration of articular cartilage. The major protein of cartilage is type II collagen, which is encoded by the COL2A1 gene. Mutations at this locus have been discovered in several individuals with inherited disorders of cartilage. We have identified 27 primary OA patients who are heterozygous for sequence dimorphisms located in the coding region of COL2A1. These dimorphisms were used to distinguish the mRNA output from each of the two COL2A1 alleles in articular cartilage obtained from each patient. Three patients demonstrated differential allelic expression and produced | 12% of the normal level of mRNA from one of their COL2A1 alleles. The same allele shows reduced expression in all three patients, and this allele is more frequent in a well-defined OA population than in a control group, suggesting the possible existence of a rare COL2A1 allele that predisposes to OA.
Thirty-four cases of ductal carcinoma in situ (DCIS) of the breast, with or without associated benign or invasive disease, were analysed for allelic imbalance (AI) in the region of the BRCA1 gene. AI on 17q12-23 in DCIS was demonstrated in 74% of cases, and in the majority of cases the region of AI included the BRCA1 gene. However, two cases showed AI distal to BRCA1, supporting the presence of a second tumour-suppressor gene on 17q ...
Tight linkage of Or4 allelic expression and sulcatone sensitivity to preference for humansa, Protein haplotype network showing seven Or4 alleles segregating wit
A nutritional imbalance can be caused by having a deficiency of certain nutrients, such as carbohydrates, protein, fats, vitamins or minerals, according to Mayo Clinic. It can also be the result of...
My skin has gone haywire and while it is dry on the outside, its still very oily inside! So Im most likely suffering a hormonal imbalance more than anything
You should have some experience or at least do some research in the area of the problem so that you know what youre dealing with.
Introduction: Genome-wide association studies (GWAS) have identified chromosomal loci that affect risk of coronary heart disease (CHD) independent of classical risk factors. One such association signal has been identified at 6q23.2 in both Caucasians and East Asians. The lead CHD-associated variant in this region, rs12190287, resides in the 3 untranslated region of the basic-helix-loop-helix transcription factor, TCF21, and is predicted to alter the seed binding site for miR-224. Allelic imbalance studies demonstrated significant imbalance of the TCF21 transcript that correlated with genotype at rs12190287.. Hypothesis: We hypothesize that genetic variation at rs12190287 contributes to allele-specific TCF21 expression imbalance via miR-224 regulation, thus altering CHD risk.. Methods and Results: Reporter assays in human coronary artery smooth muscle cells (HCASMC) showed that the disease-associated C allele is selectively targeted by miR-224, leading to reduced expression compared to the ...
To our knowledge, this is the first study analyzing the value of the GeneChip Mapping 10K 2.0 Array for the diagnosis of bladder cancer recurrences in urine using a fairly large patient series. We found that the array was not sufficiently sensitive and specific to replace the standard methods of urethrocystoscopy and cytology in the follow-up of bladder tumors (15).. The suitability of a microarray approach in this follow-up setting critically depends on three assumptions: (a) All bladder cancers are genomically unstable; (b) urine contains a high-enough proportion of cancer cells for allelic imbalance detection by microarray; and (c) in patients without a tumor recurrence at the time of sample collection, no allelic imbalance is observed in cells isolated from urine.. At the start of our project, evidence for the first two assumptions was available from the literature. Many studies showed the presence of allelic imbalance in most bladder tumors using polymorphic markers (either repeat ...
Fiscal imbalance is a mismatch in the revenue powers and expenditure responsibilities of a government. In the literature on fiscal federalism, two types of fiscal imbalances are measured: Vertical Fiscal Imbalance and Horizontal Fiscal Imbalance. When the fiscal imbalance is measured between the two levels of government (Center and States or Provinces) it is called Vertical Fiscal Imbalance. When the fiscal imbalance is measured between the governments at the same level it is called Horizontal Fiscal imbalance. This imbalance is also known as regional disparity. While Horizontal Fiscal Imbalance requires equalization transfers, Vertical Fiscal Imbalance is a structural issue and thus needs to be corrected by reassignment of revenue and expenditure responsibilities between the two senior order of the governments. A horizontal fiscal imbalance (HFI) emerges when sub-national governments have different abilities to raise funds from their tax bases and to provide services. This creates differences ...
The present study indicates a high similarity of genetic alterations between primary and metastatic tumors. That is, metastatic tumors carried the majority of the genetic alterations present in the corresponding primary tumors. All the p53 and EGFR mutations were detected in primary tumors and were retained in their corresponding metastatic tumors. This indicates that metastases have occurred at a late stage of lung cancer progression. The fact that genetic alterations in primary and metastatic tumors resembled each other went along well with previous results that expression profiles of metastatic tumors were similar to those of the corresponding primary tumors (19, 20). However, in seven of the eight cases, there were allelic imbalances detected only in metastases but not in primary tumors. To explain this result, we should consider two possibilities. The first possibility is that there were few cells carrying these additional genetic alterations in primary tumors; thus, we could not detect ...
i assume that an inner ear imbalance is what is affecting her here. this reminds me of my bachelor party many years ago. a buddy arranged for a less-than-attractive, VERY overserved dancer to give me a lapper. if memory serves,...
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Hormonal Imbalances Imbalance Treatment Delhi Causes India Men Women Symptoms Female Diagnosis Investigation Specialist Why tests Permanent cure Best senior Experienced India New Noida best qualified Indian East West North South Central Gurgaon Gurugram Faridabad Ghaziabad Hormonal Imbalance Treatment Delhi Causes India Men Women Symptoms Female Diagnosis Investigation Specialist Why tests Permanent cure Best senior Experienced India New Noida best qualified Indian East West North South Central Gurgaon Gurugram Faridabad Ghaziabad
Introduction. INTORDUCTION The constant and rising current account deficit in the United States reflect by huge and mounting current account surpluses elsewhere, especially with reference to Asia. These form of imbalances giving a clear sign that the financial activities which are related with mismatches in investments and savings on global level. If we look at few years back in late 1990s, a large number of economies outside the United States came up to the mark through increasing their net national savings. At the same time an initiative taken by the US authorities to reduced its net national savings and putting more focus on foreign borrowing. If we talk about geographical imbalances we would see that they are not that much bad as such nor they generate capital flows through these kinds of imbalances. Certainly there should be some kind of defined process that gives a mechanism to work through global markets (World Markets) which allow savers by staying in one country they can lend and to ...
Sample size required to differentiate various proportions of allelic expression. The sample size is shown that is required to differentiate various levels of al
I am a 42 yr old male.Thrice it has happened that i have experienced complete imbalance and i was not able to stand straight.i had to try very hard to maintain balance as everything around was spinning.Also i experienced sweating alongwith.After that slight headache was there for next 1-2 days ...
Getting period - Is it normal to get period twice a month? No. This is likely to be your period and an episode of break through bleeding related to imbalance of hormones.
AI Being Employed to Further Mission of Mass Media Company with a Heritage in Large-Scale Text Classification Dr. Khalid Al-Kofahi, Head of AI at Tho
Author SummaryComputational techniques are used in biology to prioritize DNA sequence variants (or polymorphisms) that may be responsible for population diversity and the manifestation of species-specific traits. Predominantly, they have been used to predict the class of polymorphisms that alter protein function through allele-specific changes to amino acid composition. However, polymorphisms that alter gene expression have been increasingly implicated in manifestation of similar traits. Prioritization of these polymorphisms is challenged, though, by the lack of knowledge regarding the mechanisms of gene regulation and the paucity of characterized regulatory polymorphisms. Our work attempts to address this issue by assembling a collection of regulatory polymorphisms from the existing literature. Furthermore, we use this collection to investigate and prioritize various properties that may be important for identifying novel regulatory polymorphisms.
First, we will define current problems with various implants and learn why current materials fail in the device systems. Orthopedic: • Current Materials Used • Current Modes of Failure: Poor bonding to surrounding bone; Generation of wear debris; Stress and strain imbalances at the tissue implant interface • Current Statistics on Orthopedic Implant Failure Dental: • Current Materials Used • Current Modes of Failure: Poor bonding to surrounding bone; Generation of wear debris; Stress and strain imbalances at the tissue implant interface • Current Statistics on Dental Implant Failure Cartilage: • Current Treatment Methods and Materials Used • Current Modes of Failure: Poor regeneration of cartilage tissue; Generation of wear debris; Stress and strain imbalances at the tissue implant interface • Current Statistics on Cartilage Implant Failure Vascular: • Current Materials Used • Current Modes of Failure: Poor bonding to surrounding vascular; Endothelium removal due to shear ...
Question - Hyperthyroidism under control, persisting giddiness, imbalance on walking small distance, burning soles. Reason?. Ask a Doctor about when and why Ejection fraction is advised, Ask a General & Family Physician
The one arm chest press went smoothly for my stronger right side but I struggled on my left side using only one or two solid reps and the rest negatives. I suspect I have found an imbalance in the power band of my left arm when I get heavier and I will hold at 95.5 and continue to work on my stability and strength imbalance on the. I decided to do these to help me self spot myself on my heavier sets; they are a bit awkward but Ill stick with it for a few weeks and see how I do ...
Here is the best resource for homework help with AEI 808 : Transducers-4 at Bingham University. Find AEI808 study guides, notes, and practice tests from
The AEI Cereal system produces sweetened cereals with or without sugar frosting for the breakfast cereal industries. Please contact us for a free sample. Shapes are not limited to what is shown here.
Your body may also have a hard time excreting (getting rid of) fluids. As a result, excess fluid builds up in the body. This is called fluid overload (volume overload). This can lead to edema (excess fluid in the skin).. Many medical problems can cause fluid imbalance:. ...
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article{dce212f8-ab0b-4494-bf1f-4f6ad80b6f33, abstract = {,p,INTRODUCTION: Cis-acting regulatory single nucleotide polymorphisms (SNPs) at specific loci may modulate penetrance of germline mutations at the same loci by introducing different levels of expression of the wild-type allele. We have previously reported that BRCA2 shows differential allelic expression and we hypothesize that the known variable penetrance of BRCA2 mutations might be associated with this mechanism.,/p,,p,METHODS: We combined haplotype analysis and differential allelic expression of BRCA2 in breast tissue to identify expression haplotypes and candidate cis-regulatory variants. These candidate variants underwent selection based on in silico predictions for regulatory potential and disruption of transcription factor binding, and were functionally analyzed in vitro and in vivo in normal and breast cancer cell lines. SNPs tagging the expression haplotypes were correlated with the total expression of several genes in breast ...
PREREQUISITE: A100 and A150 or permission of instructor CLASS PRESENTATIONS: Special presentations will be made throughout the course related to a particular "grammar focus". These presentations will be graded based on creativity, sign production, usage of non-manual modifiers/signals, contextual accuracy, fluency and comprehension. These presentations should be done with a minimum amount of fingerspelling. Lesson presentations are graded on a scale of 1-100. If your lesson is not presented on the date assigned, the grade is lowered by 10 points. Presentations must be reviewed by an AI at least one week prior to the assigned presentation date. Check the AI office door (SG C101) for your presentation deadline date. Two points will be deducted from the presentation grade for each day past the deadline date if it has not been reviewed with an AI. SPECIAL PROJECT: A special project will be due. You must participate in three out-of-class activities involving Deaf culture, and interact with a Deaf ...
WEE ESXY OB TO m a nnin OURNAL VOLUME XXXIX. COLUMBUS, WEDNESDAY, OCT OBEK 25, 1848. NUMBER 8. PUBLISHKO EVKRY WKDNLHDAY MORNlNU, BY TIIIULL & KKEU. JlRcem the Journal Huildiujr, south east corner of High slreetniid Sugar alloy. WM. B.TIIRaIlANU IIKNKY RK.I.D, Editors. TKRMrtl Ttinvr Doi.lahs rrn aknum, whirh niaybedisc barged bv tho payment ol Two Dom.aks in advance, Mid tree ot postage, or of percentage to Agents or Co fetors. , F Tho Journal is also published Daily and I r.-W ockly du in ihe year Uaily, pur annum, H"-1) I ri-Wuoa.y,a- MONO A. Y EVENING, OCTOHEIl 10, 1848. The IiORifiliituro. A groat deal of aulicilutlu in tnaiiifestcd among the poopla of Ohio to know what ii lo bo the puliticul complexion of tho next Lexislalure. Ai at presenlad-viued, our belief it tlmt in llio Senate there ii a tie; and in tho Home of Representative a Whig majority of four. In thi majority it included the two members elect from Iliimiltnn county, viz : tho firitt eight ward of Cincinnati. We ...
After two years swedens youth gender imbalance has now caught up with Chinas, which has had a one child policy since 1979 (and resulted in countless...
Answer: C. This child has the greatest percentage of fluid per pound of body weight, and is at highest risk for F&E imbalance. None of the other children have conditions which make them at high risk for F&E imbalance ...
Period covered: October 1, 1975 to October 1, 1976; Contract no. DACW-57-75-C-0109; "This report covers the period from October 1, 1975 through October 1, 1976. It has two major purposes: (1) to present the findings of the field-sampling program for adult salmonids and (2) to present the findings of the estuarine water quality and productivity study. Research activities in 1976 are summarized and detailed analysis of the data collected in 1975 is presented. This report complements the previous progress report that covered sampling activates for juvenile salmonids and water quality monitoring in the river." ...
With infrastructure like FBLearnerFlow, AutoML and Lumos, AI research is going into production at Facebook faster than ever.. AI Already Improving Facebook Products and Services. As engineers apply AI at scale, its already making an impact on the lives of people who use our products and services every day. AI assists in automatically translating posts for friends who speak different languages, and in ranking News Feed to show people more relevant stories. Over the next three to five years, well see even more new features as AI expands across Facebook.. Even more exciting, AI can enable entirely new tools for creativity and connection. As people increasingly express themselves through video, weve been focused on giving people more video-first ways to share across the Facebook family of apps. As part of this, we started working on style transfer, a technology that can learn the artistic style of a painting and then apply that style to every frame of a video. This is a technically difficult ...
Earths energy imbalance (EEI) drives the ongoing global warming and can best be assessed across the historical record (that is, since 1960) from ocean heat content (OHC) changes. An accurate assessment of OHC is a challenge, mainly because of insufficient and irregular data coverage. We provide updated OHC estimates with the goal of minimizing associated sampling error. We performed a subsample test, in which subsets of data during the data-rich Argo era are colocated with locations of earlier ocean observations, to quantify this error. Our results provide a new OHC estimate with an unbiased mean sampling error and with variability on decadal and multidecadal time scales (signal) that can be reliably distinguished from sampling error (noise) with signal-to-noise ratios higher than 3. The inferred integrated EEI is greater than that reported in previous assessments and is consistent with a reconstruction of the radiative imbalance at the top of atmosphere starting in 1985. We found that changes ...
Earths energy imbalance (EEI) drives the ongoing global warming and can best be assessed across the historical record (that is, since 1960) from ocean heat content (OHC) changes. An accurate assessment of OHC is a challenge, mainly because of insufficient and irregular data coverage. We provide updated OHC estimates with the goal of minimizing associated sampling error. We performed a subsample test, in which subsets of data during the data-rich Argo era are colocated with locations of earlier ocean observations, to quantify this error. Our results provide a new OHC estimate with an unbiased mean sampling error and with variability on decadal and multidecadal time scales (signal) that can be reliably distinguished from sampling error (noise) with signal-to-noise ratios higher than 3. The inferred integrated EEI is greater than that reported in previous assessments and is consistent with a reconstruction of the radiative imbalance at the top of atmosphere starting in 1985. We found that changes ...
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For those suffering from a hormone imbalance in Connecticut, treatment options may be available including those involving the adrenal glands.
Healthy people possess levels of brain chemicals that lie within a certain normal range. When internal or external factors either deplete the brain of these chemicals or stimulate it to produce excess amounts, a chemical imbalance occurs.
Question - Irregular periods, hormonal imbalance, poly cystic ovaries. Treatment options?. Ask a Doctor about uses, dosages and side-effects of Ovral, Ask an Endocrinologist
Hormone imbalance treatment specialist NYC. Best hormone specialist: ☎ 212 633-0626 functional medicine treatments. intl recognized. Author of Health & Wellness book.
Hormones are key neurotransmitters in the human body. Hormonal disorders such as PCOS are a common cause of being unable to get pregnant.
I am 39 years old and trying to get pregnant. I have suffered 4 miscarriages within a year, and my doctor suspects a hormonal imbalance. How do I go about
Effort-reward imbalance (ERI) is an established conceptualisation of work stress. Although a validated effort-reward questionnaire is available for public use, many epidemiological studies adopt shortened scales and proxy measures. To examine the agreement between different abbreviated measures and the original instrument, we compared different versions of the effort-reward scales available in 15 European cohort studies participating in the IPD-Work (Individual-participant-data meta-analysis in working populations) consortium. Five of the 15 studies provide information on the original (complete) scales measuring effort and reward, whereas the 10 remaining studies used partial scales. To compare different versions of the ERI scales, we analyse individual-level data from 31,790 participants from the five studies with complete scales. Pearsons correlation between partial and complete scales was very high in case of effort (where 2 out of 3 items were used) and very high or high in case of
We have confirmed and better defined the presence of a potentially important marker for malignant progression of BE. Furthermore, we have narrowed the area from 30 Mb, i.e., 7q33-q35 in our previous comparative genomic hybridization study (7) , to ∼2 Mb, i.e., the region between markers D7S2439 and D7S483. It implies the presence of a possible biomarker, which, in addition, has tumor suppressive activities. The 7q32.3-q36.1 region has not been reported frequently to be lost in human cancers. Thus far, it has been observed in gallbladder tumors, oral and oropharyngeal epithelial carcinomas, and leukemia (8, 9, 10) . In gallbladder tumors ,60% of allelic imbalance was seen for marker D7S798. Interestingly, it is located between D7S483 and D7S2465. We screened the critical area for known genes 7 with tumor suppressive potential and selected two possible candidates. Caspase 2 is known to stimulate apoptosis and is involved in shedding of intestinal epithelium (11) . Loss of these functions could ...
Alterations at microsatellite DNA markers in cells exfoliated in urine have been correlated to the presence of bladder cancer. To check the feasibility of such noninvasive analysis to routinely diagnose bladder cancers, we have developed a highly sensitive method using fluorescent PCR to search for DNA microsatellite alterations in urine sediment compared with a blood paired sample. One hundred eighty-three patients were included in our study. This population comprised 103 bladder cancers (64 pTa stages), the complement representing controls and other benign or malignant diseases. Results of the analysis at 17 loci in a blinded study were compared with cystoscopy and/or pathology. The high reproducibility of this technique and the analysis of 26 control patients allowed us to determine for each microsatellite a cutoff characterizing a significant allelic imbalance. For bladder cancer detection, the overall sensitivity of the test was 84%. Using this procedure, we identified alterations in 81%, ...
Serotonin is boosted by certain foods and activities. It has been noted that addicts in recovery and PMS sufferers, tend to binge on sugary, high carb foods. Abstaining addicts often turn to the heavy consumption of carbohydrates as a means of attempting to redress the neurotransmitter imbalances at the heart of their disorder. Some addicts may discover early in life that carbohydrate-rich foods are their drug of choice ...
Chemical Imbalance and Depression Melissa Creamer PSYC 3002- Developing a Psychology Perspective Project Draft - Persuasive Paper Capella University
A new ways of thinking about your hormones and the role they have in your body. We will also look at how the hormones can be the answer to everything.
The NC EB requires all TSOs to develop a proposal to harmonise the main features of imbalance settlement, subject to approval by all NRAs. However, the Imbalance Settlement Period duration falls outside this proposal and will be drafted into the final version of the NC EB. ACER has reviewed the draft NC EB and has proposed that the Imbalance Settlement Period duration be harmonised at 15 minutes. ACER also proposes that its recommendation on the Imbalance Settlement Period is assessed by a cost benefit analysis (CBA) to be undertaken by ENTSO-E before the NC EB enters the Comitology process.. Following on from the development of the methodologies, ENTSO-E has asked Frontier to support the process of undertaking a CBA of a change in ISP. To secure relevant inputs to the CBA process, ENTSO-E is asking for data from stakeholders across Europe, via a questionnaire. ...
The Post added that Tuoheys selection, and that of two other prosecutors, was intended in part to allay fears that Starrs investigation would be a partisan affair.. Show me the counterparts to Dash, Jahn, Immergut, and Tuohey among the lawyers Mueller brought in for his investigation. I dont believe they exist. Show me evidence of anything approaching the ideological/partisan balance the Washington Post found when it looked at Starrs team. I know it doesnt exist.. Mueller, to be sure, is a Republican. But dislike for Trump is pretty common among GOP establishment figures (and Mueller is nothing if not "establishment"). In any case, the partisan imbalance on his staff renders comparisons to Starrs team inapt. Remember this the next time some "Democratic strategist" tells Laura Ingraham that this or that member of Starrs team clerked for Justice Scalia or belonged to the Federalist Society.. There are additional distinctions between the two investigations that undermine attempts to deflect ...
Watch videos & listen free to Imbalance: On Your Kness. Two bands called Imbalance are logged on here: From Oslo: With one foot in the American thrash metal of the 90s and the other in the grave, so to speak, you are in for a merciless display of brutal yet sophisticated metal. Imbalance takes aim with strong roots in the thrash metal scene and elements of death- and black metal. No triggers, no synthesizers. The band originally formed under the name Frost in 1996 with Harald (bass/vocals) and Anders (guitars) as the two original members. After two demo's the band relocated to Oslo and went through some changes in members and musical direction. In 2003 drummer Welle joined the… Discover more music, concerts, videos, and pictures with the largest catalogue online at Last.fm.
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List of causes of Hormone imbalance and Reflux-like symptoms, alternative diagnoses, rare causes, misdiagnoses, patient stories, and much more.
Residential rental yields in Dubai and Abu Dhabi could indicate growing imbalances in the real estate sector, the UAE central bank said.
Author: Scott Cuthbert. Title: Muscle Imbalance - The Goodheart and Janda Models. Summary: Evidence suggests measurable muscular inhibition is associated with injury, inflammation and pain, as reviewed in my four-part series in this publication.
Macroeconomic Imbalances in euro- and non-euro area member states . . Biblioteca virtual para leer y descargar libros, documentos, trabajos y tesis universitarias en PDF. Material universiario, documentación y tareas realizadas por universitarios en nuestra biblioteca. Para descargar gratis y para leer online.
Chemical Imbalance Lyrics : Autonomic reactions maintaining life Not conscious to what is going on A stable internal environment is what is needed To maintain your life form Sickness sets in to hinder and destroy Your central nervous system Impaired ..
Many women I see think Hormone Imbalance is something that only happens during menopause. This couldnt be farther from true. Hormone Imbalance can contribute
Figure 1: (a) Microsatellite instability was originally assessed using gel electrophoresis and autoradiographic detection. In the left panel, additional bands (black arrows) in the tumor lane illustrate multiple contracted microsatellite alleles relative to the genomic control lane. In the right panel, an information (heterozygous) microsatellite is shown in the genomic control sample, and a significant loss of signal intensity for the smaller allele is observed in the tumor sample, characteristic of allelic imbalance/loss of heterozygosity (LOH). (b) Microsatellite loci are now commonly assessed using fluorescent PCR amplifications, capillary electrophoresis, and automated sequencing techniques. Laser scanners detect fluorescent PCR products and generate a chromatogram displaying microsatellite allele frequencies. Note in the tumor panel, one of the alleles has undergone contraction, depicting MSI in this tumor specimen. (c) Subcloning and direct sequencing of microsatellite amplifications can ...
Mobility is critical to the nations economy. Projections of future passenger and freight travel suggest that increased levels of investment may be needed to maintain the current levels of mobility provided by the nations highway and transit systems. However, calls for greater investment in transportation come amid growing concerns about fiscal imbalances at all levels of the government. As a result, careful decisions will need to be made to ensure that transportation investments maximize the benefits of each federal dollar invested. In this report GAO identifies (1) the categories of benefits and costs that can be attributed to new highway and transit investments and the challenges in measuring them; (2) how state, local, and regional decision makers consider the benefits and costs of new highway and transit investments when comparing alternatives; (3) the extent to which investments meet their projected outcomes; and (4) options to improve the information available to decision makers. To ...
Howell and Pevehouses focus on the partisan shape of congressional responses to presidential force requests helps to explain the partisan imbalance on House and Senate authorization votes in 1991 and 2002. Even given the different contexts of the votes, Republicans nearly unanimously supported both authorizations, while a majority of Democrats opposed both (with the exception of Senate Democrats in 2002 who broke narrowly in favor). The authors suggest that parties may define the national interest differently, and "issues of trust and access to information further fuel these partisan fires." Political parties will likely only unite in acute cases, such as the bipartisan rally in the wake of September 11th, 2001. Especially in a polarized era, we might expect then that Obama will prevail in the Democratic Senate but face a much rockier road in the GOP House. War politics in Congress might closely resemble domestic legislative battles.. Second, its worth pondering reports that these will be ...
Hormonal changes affect everyone from birth to death; nevertheless, we tend to have a negative perception associated with them. Being able to spot the signs of hormone imbalance is the key to maintaining a healthy lifestyle and managing associated symptoms, so were here to provide you with some of the most common symptoms of hormonal imbalances. 1. Persistent Weight Gain
Lambert JC, Pérez-Tur J, Dupire MJ, Galasko D, Mann D, Amouyel P, Hardy J, Delacourte A, Chartier-Harlin MC. Distortion of allelic expression of apolipoprotein E in Alzheimers disease ...
The nervous form of magnesium imbalance represents the best documented experimental and clinical aspects of magnesium disorders.
Complete information about Immune System Imbalance (TH2 Dominance), including signs and symptoms; conditions that suggest it; contributing risk factors.
Buy or Rent Handbook of Fluids, Electroyles and Acid Base Imbalances as an eTextbook and get instant access. With VitalSource, you can save up to 80% compared to print.
Nasdaq is pushing for wider disclosure of order imbalances in stocks it trades in an effort to assure investors of the integrity of its closing prices.
Learn how the foods you eat during summer may cause imbalances in your Pitta dosha. With a few small tweaks, you can enjoy the heat while maintaining your
Germany’s largest industrial union has secured the biggest pay rise for members in two decades in what is being seen as a major breakthrough in dealing with the eurozone’s chronic imbalances.
I, algorithm: A new dawn for artificial intelligence:Lying close to the heart of AIs revival is a technique called probabilistic programming, which combines the logical underpinnings of the old AI with the power of statistics and probability. "Its a natural unification of two of the most powerful theories that have been developed to understand the world and reason about it," says Stuart Russell, a pioneer of modern AI at the University of California, Berkeley. This powerful combination is finally starting to disperse the fog of the long AI winter. "Its definitely spring," says cognitive scientist Josh Tenenbaum at the Massachusetts Institute of Technology ...
PubMed comprises more than 30 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.
This volume presents papers from a conference organized by the Korea Development Institute and the IMF. The purpose of this high-level conference was for policymakers and academics from the Asian region and from G-20 countries to discuss forward-looking economic and financial issues of interest to the international community, such as restoring normalcy to fiscal policy, macroprudential regulation, the future of the financial system, global fiscal imbalances, and the international monetary system. Topics include: (1) A strategy for renormalizing fiscal and monetary policies in advanced economies. Key principles for restoring financial stability in the wake of the crisis, including the timing and sequence for exit, are identified. (2) Rethinking macroeconomic policy. This section examines if and how macroeconomic policy should respond to sectoral imbalances and asset-price and housing imbalances, as well as a potential role for macroprudential regulation. (3) Redesigning the financial system of the future
If you skip breakfast you may be sabotaging your weight loss efforts, increasing your risk of weight gain, blood sugar disorders, hormone imbalances, and robbing your brain of energy.
Diabetes cause a higher rate of cancer than people who are not affected by this metabolic disorder. Blood sugar imbalances damage many areas of the body.
Are you seeing continuous changes in your body? Find out if these symptoms are due to Hormonal Imbalance. Get detailed information on Consumer Health Digest.
Handbook of Fluid, Electrolyte and Acid Base Imbalances (Nursing Reference) von Joyce LeFever Kee; Betty J. Paulanka; Carolee Polek beim ZVAB.com - ISBN 10: 1435453689 - ISBN 13: 9781435453685 - Cengage Learning - 2009 - Softcover
List of causes of Blurred vision and Hormone imbalance, alternative diagnoses, rare causes, misdiagnoses, patient stories, and much more.
Autism is an intricate disorder and shouldnt be reduced to one single cause or factor. One area of imbalance to consider is serotonergic activity.
Hi, Ive been reading a lot about foremilk/hindmilk imbalance and it sounds like it might be a problem we are having. My 6 week old son is showing a lot of the symptoms but not all of them. He is having explosive green stools, but not all the time. Sometimes it looks like normal stools, only slightly green. He is so fussy between feedings and acts like he wants to eat all the time. But he doesnt have a diaper rash like I read is a sign of too much foremilk and he seems to be gaining weight
Our bodies hormones exist in a delicate balance with one another, and correcting imbalances can be a tricky thing to achieve. In order to understand what
The Radiological Association of North Americas (RSNA) 2017 conference will be remembered as the year artificial intelligence (AI) exploded in radiology. It was by far the biggest news and overall trend in sessions and throughout the expo floor. The key message was AI is here to help and augment radiologists, not replace them. The majority of the AI examples on the show floor run in the background of radiology IT systems to aid workflow, not offer its own clinical findings. Here are links to ITNs coverage of AI at RSNA 2017:. • VIDEO: Technology Report: Artificial Intelligence at RSNA 2017. • Why AI By Any Name Is Sweet For Radiology • VIDEO: Deep Learning is Key Technology Trend at RSNA 2017. • VIDEO: How Utilization of Artificial Intelligence Will Impact Radiology. • VIDEO: Examples of How Artificial Intelligence Will Improve Medical Imaging. Contributing editor and radiology industry expert Greg Freiherr offers insights about the key trends and technologies at RSNA in the following ...
PREREQUISITE: A100 and A150 or permission of instructor CLASS PRESENTATIONS: Special presentations will be made throughout the course related to a particular "grammar focus". These presentations will be graded based on creativity, sign production, usage of non-manual modifiers/signals, contextual accuracy, fluency and comprehension. These presentations should be done with a minimum amount of fingerspelling. Lesson presentations are graded on a scale of 1-100. If your lesson is not presented on the date assigned, the grade is lowered by 10 points. Presentations must be reviewed by an AI at least one week prior to the assigned presentation date. Check the AI office door (SG C101) for your presentation deadline date. Two points will be deducted from the presentation grade for each day past the deadline date if it has not been reviewed with an AI. SPECIAL PROJECT: A special project will be due. You must participate in three out-of-class activities involving Deaf culture, and interact with a Deaf ...
Define autonomic imbalance. autonomic imbalance synonyms, autonomic imbalance pronunciation, autonomic imbalance translation, English dictionary definition of autonomic imbalance. n. A lack of balance, as in distribution or functioning. im·bal′anced adj. n a lack of balance, as in emphasis, proportion, etc: the political imbalance of...

Allelic Imbalance of 7q32.3-q36.1 during Tumorigenesis in Barretts Esophagus | Cancer ResearchAllelic Imbalance of 7q32.3-q36.1 during Tumorigenesis in Barrett's Esophagus | Cancer Research

Overview of allelic imbalances in different stages of malignant progression in BE. ▪ represent allelic imbalance; □, ... whereas 2 of 20 LGD samples revealed allelic loss (10% imbalance). The 20 HGDs displayed 15 samples with allelic imbalance, ... allelic imbalance). A dramatic increase in the percentage of allelic loss is seen between LGD and HGD (Fig. 1) ⇓ . Comparison ... Allelic Imbalance of 7q32.3-q36.1 during Tumorigenesis in Barretts Esophagus. Peter H. J. Riegman, Lawrence J. Burgart, ...
more infohttp://cancerres.aacrjournals.org/content/62/5/1531

Allelic Imbalance at rs6983267 Suggests Selection of the Risk Allele in Somatic Colorectal Tumor Evolution | Cancer ResearchAllelic Imbalance at rs6983267 Suggests Selection of the Risk Allele in Somatic Colorectal Tumor Evolution | Cancer Research

Allelic Imbalance at rs6983267 Suggests Selection of the Risk Allele in Somatic Colorectal Tumor Evolution. Sari Tuupanen, Iina ... allelic imbalance. Introduction. Inherited susceptibility is likely to play a role in 35% of all colorectal cancers (CRC; ref. ... One hundred and one tumors showed allelic imbalance (22%). The risk allele G was favored in 67 versus 34 tumors (P = 0.0007). ... Allelic Imbalance at rs6983267 Suggests Selection of the Risk Allele in Somatic Colorectal Tumor Evolution ...
more infohttp://cancerres.aacrjournals.org/content/68/1/14

Leicester Research Archive: A study of allelic imbalance in human breast cancer.Leicester Research Archive: A study of allelic imbalance in human breast cancer.

The analysis of loss of heterozygosity (LOH) in tumours can be used to map candidate sites of tumour-suppressor genes in the human genome. A panel of breast cancer patients was assembled as pairs of tumour and lymphocyte DNA samples and LOH studies carried out by Southern hybridization with polymorphic loci mapping to chromosomes 1 and X. Loci on other chromosomes were also studied as controls. Sequences on chromosome 1 were found to be subject to a variety of alterations creating very complex patterns of rearrangements, including LOH. Deletion mapping identified five independent regions of loss, three of which may correspond to regions identified in previous reports, although individually none occurred with high frequency to support the targeting of a specific locus. The short arm of chromosome 1 primarily underwent interstitial deletions whereas the long arm was subject to both whole arm events (gains and losses) and more localized events. Small deletions on chromosome 1 were found exclusively ...
more infohttps://lra.le.ac.uk/handle/2381/35100

Telomeric Allelic Imbalance Indicates Defective DNA Repair and Sensitivity to DNA-Damaging Agents | Cancer DiscoveryTelomeric Allelic Imbalance Indicates Defective DNA Repair and Sensitivity to DNA-Damaging Agents | Cancer Discovery

Telomeric Allelic Imbalance Indicates Defective DNA Repair and Sensitivity to DNA-Damaging Agents. Nicolai J. Birkbak, Zhigang ... Correction: Telomeric Allelic Imbalance Indicates Defective DNA Repair and Sensitivity to DNA-Damaging Agents - August 7, 2013 ... The number of subchromosomal regions with allelic imbalance extending to the telomere (NtAI) predicted cisplatin sensitivity in ... Telomeric Allelic Imbalance Indicates Defective DNA Repair and Sensitivity to DNA-Damaging Agents ...
more infohttps://cancerdiscovery.aacrjournals.org/content/2/4/366?ijkey=9fbe31291b076c94c3faabb7ee09542e5a2f1aeb&keytype2=tf_ipsecsha

Telomeric Allelic Imbalance Indicates Defective DNA Repair and Sensitivity to DNA-Damaging Agents | Cancer DiscoveryTelomeric Allelic Imbalance Indicates Defective DNA Repair and Sensitivity to DNA-Damaging Agents | Cancer Discovery

Telomeric Allelic Imbalance Indicates Defective DNA Repair and Sensitivity to DNA-Damaging Agents. Nicolai J. Birkbak, Zhigang ... Correction: Telomeric Allelic Imbalance Indicates Defective DNA Repair and Sensitivity to DNA-Damaging Agents - August 7, 2013 ... The number of subchromosomal regions with allelic imbalance extending to the telomere (NtAI) predicted cisplatin sensitivity in ... Telomeric Allelic Imbalance Indicates Defective DNA Repair and Sensitivity to DNA-Damaging Agents ...
more infohttps://cancerdiscovery.aacrjournals.org/content/2/4/366

Additional file 11: Figure S2D. of Analysis of Allelic Imbalance in Rice Hybrids Under Water Stress and Association of...Additional file 11: Figure S2D. of Analysis of Allelic Imbalance in Rice Hybrids Under Water Stress and Association of...

of Analysis of Allelic Imbalance in Rice Hybrids Under Water Stress and Association of Asymmetrically Expressed Genes with ... Rice (Oryza sativa L.) Allele-specific expression (ASE) Allelic imbalance (AI) Drought RNA-seq Selective genotyping Co- ... of Analysis of Allelic Imbalance in Rice Hybrids Under Water Stress and Association of Asymmetrically Expressed Genes with ...
more infohttps://figshare.com/articles/Additional_file_11_Figure_S2D_of_Analysis_of_Allelic_Imbalance_in_Rice_Hybrids_Under_Water_Stress_and_Association_of_Asymmetrically_Expressed_Genes_with_Drought-Response_QTLs/4396370/1

Integrative high-resolution microarray analysis of human myeloma cell lines reveals deregulated miRNA expression associated...Integrative high-resolution microarray analysis of human myeloma cell lines reveals deregulated miRNA expression associated...

... microarray analysis of human myeloma cell lines reveals deregulated miRNA expression associated with allelic imbalances and ... We identified 16 miRNAs mapped to chromosomal regions frequently involved in numerical imbalances in MM, whose expression ...
more infohttps://insights.ovid.com/gcac/200906000/01445420-200906000-00007

Allelic imbalance in familial and sporadic prostate cancer at the putative human prostate cancer susceptibility locus, HPC1....Allelic imbalance in familial and sporadic prostate cancer at the putative human prostate cancer susceptibility locus, HPC1....

Allelic loss or imbalance in tumour tissue is often the hallmark of a TSG. Studies of allelic loss have not previously ... We conclude that the incidence of allelic imbalance at HPC1 is low in both sporadic tumours and small prostate cancer families ... Although widely spaced (12-50 cM), each marker showed evidence of allelic imbalance in only approximately 7.5% of informative ... Allelic loss or imbalance in tumour tissue is often the hallmark of a TSG. Studies of allelic loss have not previously… ...
more infohttps://www.semanticscholar.org/paper/Allelic-imbalance-in-familial-and-sporadic-prostate-Dunsmuir-Edwards/615bde7a0f7ce262b249e4263d8582c496ffa94a

Allelic imbalance at the HER2/TOP2A locus in breast cancer | Diagnostic Pathology | Full TextAllelic imbalance at the HER2/TOP2A locus in breast cancer | Diagnostic Pathology | Full Text

... displayed allelic imbalance, while 8 did not. We conclude that the SNP assay is suitable for rapid testing of allelic (im) ... Based on allelic imbalance at this locus, both triple negative and ER and PR positive breast tumors can be subcategorized. The ... Allelic imbalance was observed in 13/15 (87 %) HER2 positive tumors, the remaining 2 being inconclusive. Of the 16 triple ... We therefore developed a Single Nucleotide Polymorphism (SNP) assay to evaluate allelic imbalance at the HER2/TOP2A locus in ...
more infohttps://diagnosticpathology.biomedcentral.com/articles/10.1186/s13000-015-0289-x

Snapshots of gene expression in rice: limitations for allelic expression imbalance determinationSnapshots of gene expression in rice: limitations for allelic expression imbalance determination

... Akkinepalli, Harika; Ereful, ... limitations for allelic expression imbalance determination Genome , vol 55 , no. 5 , pp. 400-406 . DOI: 10.1139/G2012-023 ... the lack of reproducibility led us to question the basic premise of allelic expression imbalance determination: namely that ... designed to demonstrate that stochastic variation in low copy number of targets in PCR reactions give variable allelic ratios ...
more infohttp://cadair.aber.ac.uk/dspace/handle/2160/8087

GSE28330 - Telomeric Allelic Imbalance Indicates Defective DNA Repair and Sensitivity to DNA-Damaging Agents - OmicsDIGSE28330 - Telomeric Allelic Imbalance Indicates Defective DNA Repair and Sensitivity to DNA-Damaging Agents - OmicsDI

Thus, accumulation of telomeric allelic imbalance is a marker of platinum sensitivity and suggests impaired DNA repair. Overall ... The number of subchromosomal regions with allelic imbalance extending to the telomere (NtAI) predicted cisplatin sensitivity in ... Telomeric Allelic Imbalance Indicates Defective DNA Repair and Sensitivity to DNA-Damaging Agents. Ontology highlight ... Telomeric Allelic Imbalance Indicates Defective DNA Repair and Sensitivity to DNA-Damaging Agents ...
more infohttps://www.omicsdi.org/dataset/geo/GSE28330

YUHSpace: Regions of allelic imbalance in the distal portion of chromosome 12q in gastric cancerYUHSpace: Regions of allelic imbalance in the distal portion of chromosome 12q in gastric cancer

Regions of allelic imbalance in the distal portion of chromosome 12q in gastric cancer, doi: 10.1136/mp.56.3.141, category: ... YUHSpace: Regions of allelic imbalance in the distal portion of chromosome 12q in gastric cancer. menu ... Regions of allelic imbalance in the distal portion of chromosome 12q in gastric cancer ... Adenocarcinoma/ethnology ; Adenocarcinoma/genetics* ; Adenocarcinoma/pathology ; Allelic Imbalance* ; Chromosomes, Human, Pair ...
more infohttps://ir.ymlib.yonsei.ac.kr/handle/22282913/113576

Allelic expression imbalance of the human CYP3A4 gene and individual phenotypic status. - Semantic ScholarAllelic expression imbalance of the human CYP3A4 gene and individual phenotypic status. - Semantic Scholar

We show that the allelic variation is critically involved in determining the individual total hepatic CYP3A4 mRNA level and ... There exists a definite correlation between the total CYP3A4 mRNA level and allelic expression ratio, the relative transcript ... present a new insight into the individualized CYP3A4-dependent pharmacotherapy and the importance of expression imbalance to ... Allelic expression imbalance of the human CYP3A4 gene and individual phenotypic status.. @article{Hirota2004AllelicEI, title={ ...
more infohttps://www.semanticscholar.org/paper/Allelic-expression-imbalance-of-the-human-CYP3A4-Hirota-Ieiri/0cad110f8b7a9d538f6ce3c7ad4fc87ca9fa156c

E-GEOD-58524 - Allelic imbalance is a prevalent and tissue-specific feature of the mouse transcriptome - OmicsDIE-GEOD-58524 - Allelic imbalance is a prevalent and tissue-specific feature of the mouse transcriptome - OmicsDI

Allelic imbalance attributed to genotype is by far the most prevalent class and typically is tissue-specific. However, some ... genotype-based imbalance is maintained across tissues and is associated with greater genetic variation, especially in 5 and 3 ... We perform a systematic classification of allelic imbalance in mouse hybrids derived from reciprocal crosses of divergent ... Allelic transcriptome analyses revealed a high correlation between allelic DHSs and allelic gene expression not only in known ...
more infohttps://www.omicsdi.org/dataset/arrayexpress-repository/E-GEOD-58524

Allelic imbalance in the region of the BRCA1 gene in ductal carcinoma in situ of the breast. - The Christie Research...Allelic imbalance in the region of the BRCA1 gene in ductal carcinoma in situ of the breast. - The Christie Research...

Allelic imbalance in the region of the BRCA1 gene in ductal carcinoma in situ of the breast.. Authors:. Munn, K E; Walker, R A ... Four regions of allelic imbalance on 17q12-qter associated with high-grade breast tumors.Authors: Plummer SJ, Paris MJ, Myles J ... Allelic imbalance in the region of the BRCA1 gene in ductal carcinoma in situ of the breast. 1996, 73 (5):636-9 Br. J. Cancer. ... Allelic imbalance in the region of the BRCA1 gene in ductal carcinoma in situ of the breast. 1996, 73 (5):636-9 Br. J. Cancer. ...
more infohttp://christie.openrepository.com/christie/handle/10541/95600

Analysis of allelic imbalance in rice hybrids under water stress and association of asymmetrically expressed genes with drought...Analysis of allelic imbalance in rice hybrids under water stress and association of asymmetrically expressed genes with drought...

Here we assessed allelic imbalance (AI) in the heterozygote state of rice under non- and water-stress treatments and determined ... Analysis of allelic imbalance in rice hybrids under water stress and association of asymmetrically expressed genes with drought ...
more infohttp://openaccess.sruc.ac.uk/handle/11262/11151

Plus itPlus it

Allelic imbalance was determined by comparing the ratio of the two allele pairs in the PVL DNA with the two allele pairs in the ... Allelic Imbalance. Genomic DNA from PVL lesions and patient matched normal control tissue was amplified using fluorescent PCR ... Allelic imbalance was assessed for markers reported to be highly polymorphic in squamous cell carcinomas and in oral dysplasias ... Use of allelic loss to predict malignant risk for low-grade oral epithelial dysplasia. Clin Cancer Res 2000;6:357-62. ...
more infohttp://cebp.aacrjournals.org/content/17/11/3179

Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing  -...Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing -...

Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing. HUM ... We also found convincing evidence for allelic imbalance at multiple reporter exonic SNPs in CD6 for two samples heterozygous at ... Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing ... Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing. ...
more infohttp://discovery.ucl.ac.uk/154280/

Plus itPlus it

Allelic imbalance of 18q was significantly more common (P , 0.05), whereas allelic imbalance of 5q and K-ras mutations were ... Allelic Imbalance/LOH at Tumor Suppressor Gene and DNA Mismatch Repair Gene Loci. Allelic imbalance or LOH at 18q was ... Some colon cancers have allelic imbalance at 18q without allelic imbalance of 5q. Serrated adenomas might be the precursors of ... including frequent 18q allelic imbalance and infrequent 5q allelic imbalance. Serrated adenomas have histologic features that ...
more infohttp://cebp.aacrjournals.org/content/14/9/2253

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... allelic imbalances in this current study were highest at the 9 p loci. BRB gel treatment significantly reduced allelic ... PCR amplification and detection of allelic imbalance. Genomic DNA isolated from the LCM samples was amplified using the ... Topical application of BRB gel significantly reduced allelic imbalance in OIN lesions. BRB gel-treated lesions demonstrated a ... 3C). Forty three percent of BRB and 26% of placebo pretreatment lesions demonstrated 9p associated allelic imbalance. The ...
more infohttp://clincancerres.aacrjournals.org/content/20/7/1910

The evolution of Sex-linked barring alleles in chickens involves both regulatory and coding changes in CDKN2AThe evolution of Sex-linked barring alleles in chickens involves both regulatory and coding changes in CDKN2A

Genotyping and allelic imbalance. Four different pyro-sequencing assays were designed to properly determine the genotype at any ... CDKN2A gene expression and allelic imbalance of expression in B2/N feathers. The pedigree data, in combination with our ... How is this result compatible with the highly significant allelic imbalance test showing that the mutant allele is expressed at ... we observed allelic imbalance in favor of the mutant allele in B2/N birds suggesting that one or both non-coding changes act ...
more infohttps://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1006665

APC promoter 1B deletion in seven American families with familial adenomatous polyposis.  - PubMed - NCBIAPC promoter 1B deletion in seven American families with familial adenomatous polyposis. - PubMed - NCBI

APC; APC promoter 1B; allelic imbalance; colon cancer; familial adenomatous polyposis; founder mutation ...
more infohttps://www.ncbi.nlm.nih.gov/pubmed/25243319

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Allelic imbalance (AI) analysis was conducted using a panel of 52 microsatellite markers in 484 stromal specimens from 98 women ... Allelic imbalance in research-grade breast stroma specimens. In 484 stromal specimens, 53 AI events were detected; these ... Over 10 years ago, chromosomal alterations were detected as loss of heterozygosity (LOH) or allelic imbalance (AI) events in ... Increased risk of local recurrence is associated with allelic loss in normal lobules of breast cancer patients. Cancer Res 2002 ...
more infohttp://mcr.aacrjournals.org/content/10/12/1526

Handbook of Immunohistochemistry and in situ Hybridization of Human Carcinomas - 1st EditionHandbook of Immunohistochemistry and in situ Hybridization of Human Carcinomas - 1st Edition

Allelic Imbalance and Microsatellite Instability Cell Cycle Regulation p53 and Homologues Wnt Pathway: APC, β-Catenin, Axin 1, ... 2 Detection of Genomic Imbalances in Endocrine Pancreatic Tumors Using Comparative Genomic Hybridization Introduction Materials ...
more infohttps://www.elsevier.com/books/handbook-of-immunohistochemistry-and-in-situ-hybridization-of-human-carcinomas/hayat/978-0-12-088404-9

High grade serous ovarian carcinomas originate in the fallopian tube.  - PubMed - NCBIHigh grade serous ovarian carcinomas originate in the fallopian tube. - PubMed - NCBI

Somatic mutation and allelic imbalance profiles among different tumor lesions. Somatic mutations and segments of allelic ... Genome-wide allelic imbalance profile. Minor allele frequency of heterozygous SNPs identified from normal tissue in each ... Darker shades of each color indicate somatic mutations while lighter shades indicate allelic imbalances. The tumor samples ... enabling assessment of allelic imbalance in ~17,000 loci across the exome. Circular binary segmentation (CBS) is applied to ...
more infohttps://www.ncbi.nlm.nih.gov/pubmed/29061967
  • In an initial investigation of differential expression of genes caused by cis-acting regulatory elements in rice, the lack of reproducibility led us to question the basic premise of allelic expression imbalance determination: namely that departures of cDNA expression ratios from those observed in genomic DNA provide unequivocal evidence of cis-acting polymorphisms. (aber.ac.uk)
  • We show that genetic variation that disrupts the consensus binding motif and its methylation is associated with mono-allelic expression of neighbouring genes. (omicsdi.org)
  • Here we assessed allelic imbalance (AI) in the heterozygote state of rice under non- and water-stress treatments and determined association of asymmetrically expressed genes with grain yield (GY) under drought stress by in-silico co-localization analysis and selective genotyping. (sruc.ac.uk)
  • Genome-wide identification of autosomal genes with allelic imbalance of chromatin state. (duke.edu)
  • Over 10 years ago, chromosomal alterations were detected as loss of heterozygosity (LOH) or allelic imbalance (AI) events in morphologically normal terminal ductal lobular units adjacent to breast carcinomas ( 6 ). (aacrjournals.org)
  • Both tumor types share a common pattern of genomic abnormalities and have high global levels of chromosomal aberrations, including allelic imbalance (AI), the unequal contribution of maternal and paternal DNA sequences with or without changes in overall DNA copy number ( 8 - 10 ). (aacrjournals.org)
  • We also found convincing evidence for allelic imbalance at multiple reporter exonic SNPs in CD6 for two samples heterozygous at the multiple sclerosis-associated variant rs17824933, linking GWA findings with variation in gene expression. (ucl.ac.uk)
  • The number of subchromosomal regions with allelic imbalance extending to the telomere (N tAI ) predicted cisplatin sensitivity in vitro and pathologic response to preoperative cisplatin treatment in patients with triple-negative breast cancer (TNBC). (aacrjournals.org)
  • This paper describes experiments designed to demonstrate that stochastic variation in low copy number of targets in PCR reactions give variable allelic ratios even when starting with the same copy numbers of the two alleles. (aber.ac.uk)
  • While half of these are biallelic and include ERV targets, the rest show mono-allelic binding based either on parental-origin or on genetic background of the allele. (omicsdi.org)
  • 70% of these showed allelic imbalance (AI) at one or more markers in or distal to 12q21. (yonsei.ac.kr)
  • Allelic imbalance was assessed for markers reported to be highly polymorphic in squamous cell carcinomas and in oral dysplasias. (aacrjournals.org)
  • Allelic imbalance (AI) analysis was conducted using a panel of 52 microsatellite markers in 484 stromal specimens from 98 women, of which 92% had no detectable AI events. (aacrjournals.org)
  • Four hundred and sixty-six GT heterozygotes identified in this study were analyzed for allelic imbalance at rs6983267 in the respective cancer DNA. (aacrjournals.org)
  • We show that the proposed normalization strategy successfully removes asymmetry in estimates of both allelic proportions and copy numbers. (biomedcentral.com)
  • Low percentages of imbalance were determined in METs and LGDs, 7% and 10%, respectively, whereas HGDs and Barrett's adenocarcinomas revealed high percentages of loss, 75% and 65%, respectively. (aacrjournals.org)
  • Allelic loss or imbalance in tumour tissue is often the hallmark of a TSG. (semanticscholar.org)
  • High density SNP arrays help scientists identify patterns of allelic imbalance. (wikipedia.org)