A situation where one member (allele) of a gene pair is lost (LOSS OF HETEROZYGOSITY) or amplified.
The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.
A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
DNA present in neoplastic tissue.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair GROUP C CHROMSOMES of the human chromosome classification.
Any method used for determining the location of and relative distances between genes on a chromosome.
The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.
Tumor suppressor genes located in the 18q21-qter region of human chromosome 18. The absence of these genes is associated with the formation of colorectal cancer (DCC stands for deleted in colorectal cancer). The products of these genes show significant homology to neural cell adhesion molecules and other related cell surface glycoproteins.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.
Benign and malignant neoplastic processes arising from or involving components of the central, peripheral, and autonomic nervous systems, cranial nerves, and meninges. Included in this category are primary and metastatic nervous system neoplasms.
Genes that inhibit expression of the tumorigenic phenotype. They are normally involved in holding cellular growth in check. When tumor suppressor genes are inactivated or lost, a barrier to normal proliferation is removed and unregulated growth is possible.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
Hybridization of a nucleic acid sample to a very large set of OLIGONUCLEOTIDE PROBES, which have been attached individually in columns and rows to a solid support, to determine a BASE SEQUENCE, or to detect variations in a gene sequence, GENE EXPRESSION, or for GENE MAPPING.
Tumor suppressor genes located on the short arm of human chromosome 17 and coding for the phosphoprotein p53.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
Biochemical identification of mutational changes in a nucleotide sequence.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
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.
The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.
A specific pair of GROUP C CHROMSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.
Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI.
The separation and isolation of tissues for surgical purposes, or for the analysis or study of their structures.
Tumors or cancer of the human BREAST.
Actual loss of portion of a chromosome.
A selective increase in the number of copies of a gene coding for a specific protein without a proportional increase in other genes. It occurs naturally via the excision of a copy of the repeating sequence from the chromosome and its extrachromosomal replication in a plasmid, or via the production of an RNA transcript of the entire repeating sequence of ribosomal RNA followed by the reverse transcription of the molecule to produce an additional copy of the original DNA sequence. Laboratory techniques have been introduced for inducing disproportional replication by unequal crossing over, uptake of DNA from lysed cells, or generation of extrachromosomal sequences from rolling circle replication.
The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.
Tumors or cancer of the MOUTH.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
Methods which attempt to express in replicable terms the extent of the neoplasm in the patient.
Tumors or cancer of the LUNG.
A sarcoma originating in bone-forming cells, affecting the ends of long bones. It is the most common and most malignant of sarcomas of the bones, and occurs chiefly among 10- to 25-year-old youths. (From Stedman, 25th ed)
A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations.
A malignant epithelial tumor with a glandular organization.
A carcinoma derived from stratified SQUAMOUS EPITHELIAL CELLS. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)
Tumors or cancer of the URINARY BLADDER.
The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.
Proteins that are normally involved in holding cellular growth in check. Deficiencies or abnormalities in these proteins may lead to unregulated cell growth and tumor development.
Pathological processes that tend eventually to become malignant. (From Dorland, 27th ed)
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)
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.

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)

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 ...
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Common single-nucleotide polymorphisms (SNPs) in ten chromosomal loci have been shown to predispose to colorectal cancer (CRC) in genome-wide association studies. A plausible biological mechanism of CRC susceptibility associated with genetic variation has so far only been proposed for three loci, each pointing to variants that affect gene expression through distant regulatory elements. In this study, we aimed to gain insight into the molecular basis of seven low-penetrance CRC loci tagged by rs4779584 at 15q13, rs10795668 at 10p14, rs3802842 at 11q23, rs4444235 at 14q22, rs9929218 at 16q22, rs10411210 at 19q13, and rs961253 at 20p12. Possible somatic gain of the risk allele or loss of the protective allele was studied by analyzing allelic imbalance in tumour and corresponding normal tissue samples of heterozygous patients. Functional variants were searched from in silico predicted enhancer elements locating inside the CRC-associating linkage-disequilibrium regions. No allelic imbalance targeting the
TY - JOUR. T1 - Allelic imbalance and microsatellite instability in resected Dukes D colorectal cancer. AU - Kochhar, Ruby. AU - Halling, Kevin C.. AU - McDonnell, Shannon. AU - Schaid, Daniel J.. AU - French, Amy J.. AU - OConnell, Michael J.. AU - Nagorney, David M.. AU - Thibodeau, Stephen N.. PY - 1997/4/1. Y1 - 1997/4/1. N2 - Hepatic resection is the treatment of choice for selected patients with liver metastases from colorectal cancer (CRC). Although the 5-year survival rate among patients after liver resection is 25-45%, 55-75% of patients die from progressive disease. The purpose of this study was to characterize molecular genetic alterations, including microsatellite instability and allelic imbalance, in patients with potentially curative resected liver metastases from CRC and to correlate these molecular features with clinical and pathologic characteristics. We examined DNA from formalin-fixed, paraffin-embedded archival tumor specimens from 141 surgically resected hepatic metastases ...
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 ...
Q: I am using your lab database AlleleDB for allelic imbalance SNPs of ChIP-seq data and I really find it a formidable resource for further research. I noticed that many of the significant SNPs for allelic imbalance are SNPs that have only the reference allele in the ChIP-seq data. See the first 10 lines as…
Tight linkage of Or4 allelic expression and sulcatone sensitivity to preference for humansa, Protein haplotype network showing seven Or4 alleles segregating wit
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Womens hormonal imbalance treatments centre in Montreal Canada. Get complete hormonal imbalance test for female from OriginElle clinic at low cost as possible.
Hormonal imbalances in women will effect both internal and the external processes of the her body.It can be regulated through medical supervision .
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...
Women in their 30s or 40s can begin having a hormonal imbalance symptom and correcting this condition requires understanding how the main hormones function.
Hormonal imbalances can be complicated. Its important to understand your cycle along with these important symptoms to help heal your hormones and health.
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.
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.
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Müller, B.; Boltze, J.; Czepezauer, I.; Hesse, V.; LEGASCREEN Consortium; Friederici, A. D.; Emmrich, F.; Brauer, J.; Wilcke, A.; Neef, N. et al.; Boltze, J.; Skeide, M. A.; Kirsten, H.; Schaadt, G.; Müller, B.; Kraft, I.; Czepezauer, I.; Dörr, L.; Wilcke, A.; Kirsten, H.: Dyslexia risk variant rs600753 is linked with dyslexia-specific differential allelic expression of DYX1C1. Genetics and Molecular Biology 41 (1), pp. 41 - 49 (2018 ...
Müller, B.; Boltze, J.; Czepezauer, I.; Hesse, V.; LEGASCREEN Consortium; Friederici, A. D.; Emmrich, F.; Brauer, J.; Wilcke, A.; Neef, N. et al.; Boltze, J.; Skeide, M. A.; Kirsten, H.; Schaadt, G.; Müller, B.; Kraft, I.; Czepezauer, I.; Dörr, L.; Wilcke, A.; Kirsten, H.: Dyslexia risk variant rs600753 is linked with dyslexia-specific differential allelic expression of DYX1C1. Genetics and Molecular Biology 41 (1), S. 41 - 49 (2018 ...
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,...
hormone imbalance - MedHelps hormone imbalance Center for Information, Symptoms, Resources, Treatments and Tools for hormone imbalance. Find hormone imbalance information, treatments for hormone imbalance and hormone imbalance symptoms.
Historically, demand response (DR), demand-side management (DSM) or curtailment calls were made to help satisfy resource imbalances at control areas ... by Ron Chebra
Approximately 40% of the population in the United States will experience dizziness or imbalance at some point in their lives and dizziness is the number one complaint of individuals 70 and older.
What is the best diet for women over 40? The moment a woman enters the age of 40, her body will start to burn less and fewer calories. For this reason, middle-aged women will end up having a slower metabolism, with the tendency to have imbalances on hormones, particularly when they are experiencing menopause. With … Read more Best Diet for Women Over 40 - Keep Healthy. ...
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 ...
Architectural Engineering Institute (AEI) awards honoring outstanding professionals and academicians in the field of architectural engineering.
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 ...
To Understand The Hormonal Imbalance in Women Why can it be so difficult or impossible to clear up acne? As you probably know, youre hormonal and acne.
Our bodies are communicating a lot and its important to listen, so ask yourself these 10 questions if you think you may have a hormone imbalance.
Hormones are vital to the overall health of your body. But sometimes they get a little funky, so what causes hormonal imbalance? Well explain what happens.
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.
TY - JOUR. T1 - Microsatellite instability and allelic imbalance in primary and secondary colorectal cancer. AU - Schneider, Anne. AU - Rohr, Serge. AU - Kelly, Michael D.. AU - Mitry, Ragai. AU - Pignatelli, Massimo. AU - Dore, Caroline J.. AU - Gaub, Marie Pierre. AU - Jaeck, Daniel. AU - Meyer, Christian. AU - Oudet, Pierre. AU - Habib, Nagy A.. PY - 2000. Y1 - 2000. N2 - Background: Several studies of colorectal cancer have shown an association between the number and type of genomic defects and the stage of disease. A subset of colorectal tumours are due to inactivation of DNA mismatch repair genes and these tumours exhibit microsatellite instability. The aim of the present study was to compare and contrast the genomic defects present in both the primary and metastatic stages of the disease using microsatellite probes. Methods: Modifications of the allelic profiles of 25 microsatellite regions were studied in a total of 85 colorectal tumours using fluorescent polymerase chain reaction (PCR) ...
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.
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Michalis Michael, CEO of DigitalMR, sets the bar high for state-of-the-art text analytics. The sentiment accuracy and topic match has to be ,80% while significantly reducing noise. Only by supporting all languages enterprises become omniscient. Human emotions are slightly more complex than Positive/Neutral/Negative. HeartBeat AI, for example, features a comprehensive emotion model. Text analytics needs to be meaningfully integrated in existing surveys and other data sources. Profiling allows customer segmentation by demographics or other derived variables ...
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Just guessing here, folks, but this page may useful... ... http://tuberose.com/Adrenal_Glands.html I got it from JamesG on the Adrenal Fatigue forum. Way down on the screen, about three printed out pages from the bottom, there is a suggestion that one add a crushed kelp sprinkle to a little food, and eat it with sips of water. (Ya gotta read it for yourself!) There s an alternate veggie juice suggestion, too. It made sense to me that, if the body is trying to dump sodium (to balance the proportions of the four electrolytes), that water follows...hence, too frequent urinati ...
Google is going to launch a new set of Coral Accelerator Hardware for the AI at the edge applications. Both are using Edge TPU Co-processor ...
This is a great question and I wouldnt blame you for asking because ultimately knowing the why behind anything we do gives our actions power. So why lift the arches? Consider your feet the foundation of all standing postures. Would you build your extremely expensive one-of-a-kind house on mud, or would you prefer a solid foundation you know will hold up over time? Picture it, a strong, heavy house resting on a muddy foundation, eventually part of the house would start to sink downward while other parts remained strong. The pressure would build and the weakest parts would start to break. This happens in our body, and the weakest points are typically our joints. The joints are weak because they are the place where two or more bones come together for the purpose of movement. If they were too strong, no movement would be available. Gravity is always upon us and pulling us downward. When our bones are properly aligned there is less stress on the joints. However, what if we have an imbalance at the ...
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 ...
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Global imbalances have been suggested as the root cause of the global crisis. This column argues that another imbalance is the guilty party. The entire world had an insatiable demand for safe debt instruments that put an enormous pressure on the US financial system and its incentives. This structural problem can be alleviated if governments around the world explicitly absorb a
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2001). "Human APC2 localization and allelic imbalance". Cancer Res. 61 (21): 7978-84. PMID 11691822. Strausberg RL, Feingold EA ...
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 ...
Fogarty MP, Xiao R, Prokunina-Olsson L, Scott LJ, Mohlke KL (May 2010). "Allelic expression imbalance at high-density ...
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". ...
It also accounts for Allelic Imbalances, where alleles of a gene are expressed at different levels in a given cell, which may ... Identifying Heterogeneity Patterns of Allelic Imbalance on Germline Variants to Infer Clonal Architecture. Intelligent ... This is due to allelic prevalence depending on multiple factors such as the proportion of 'contaminating' normal cells in the ... When multiple samples are sequenced, subclonal populations that are similar in allelic prevalence in some cells but not others ...
... allelic imbalance and overexpression in sporadic human pituitary tumors". Clinical Cancer Research. 5 (8): 2133-9. PMID ...
... disorder appears to be a genetically inherited neurochemical dysfunction that may involve autonomic imbalance; ... Deckert, Jurgen; Weber, Heike; Pauli, Paul; Reif, Andreas (2017). "Glrb Allelic Variation Associated with Agoraphobic ... decreased GABA-ergic tone; allelic polymorphism of the catechol-O-methyltransferase (COMT) gene; increased adenosine receptor ...
May 2011). "The chicken polydactyly (Po) locus causes allelic imbalance and ectopic expression of Shh during limb development ...
Prevalence and prognostic impact of allelic imbalances associated with leukemic transformation of Philadelphia chromosome- ...
MMSEQ is a pipeline for estimating isoform expression and allelic imbalance in diploid organisms based on RNA-Seq. The pipeline ...
was aimed to construct the maps of allelic imbalances in DNA methylation, gene transcription, and also of histone modifications ... DNA methylation imbalances between homologous chromosomes show sequence-dependent behavior. Difference in the methylation state ... The results of WGBS tested on 49 methylomes revealed CpG methylation imbalances exceeding 30% differences in 5% of the loci. On ... The results of WGBS tested on 49 methylomes revealed CpG methylation imbalances exceeding 30% differences in 5% of the loci. ...
"Allelic imbalances and microdeletions affecting the PTPRD gene in cutaneous squamous cell carcinomas detected using single ...
... 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: ...
MIP, for instance, can be used to capture targets for SNPgenotyping, copy number variation or allelic imbalance studies, to ...
... disorder appears to be a genetically inherited neurochemical dysfunction that may involve autonomic imbalance; ... decreased GABA-ergic tone; allelic polymorphism of the catechol-O-methyltransferase (COMT) gene; increased adenosine receptor ...
... and extensive allelic imbalances shared across mature, immature, and disseminated components". Modern Pathology. 33 (6): 1193- ...
It appears to be the mechanism targeting RASEF in uveal melanoma, and allelic imbalance at this locus supports a TSG role for ...
... and induced widespread allelic imbalances in the genome with implications for platinum and PARP inhibitor sensitivity. GRCh38: ...
"A genome-wide study of allelic imbalance in human testicular germ cell tumors using microsatellite markers," Cancer Genetics ...
... allelic imbalance MeSH G13.920.590.029.530 - loss of heterozygosity MeSH G13.920.590.029.530.175 - chromosome deletion MeSH ...
... telomeric-allelic imbalance (TAI), and large-scale state transitions (LST) scores) It is based on a supervised learning method ...
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 ...
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 ...
XLPDR lacks allelic heterogeneity, meaning that the disorder is uniquely associated with the NM_016937.3:c.1375-354A>G intronic ... Gastrointestinal disorders Kidney disease Kidney stones Urinary infections Webbed feet or hands Electrolyte imbalance Retinitis ...
Lung remodeling may be mediated by an imbalance between matrix degrading metalloproteinases (MMPs) and their endogenous ... LAM cells carry bi-allelic inactivation of the TSC2 genes, consistent with the "two-hit" tumor suppressor gene model. The ...
"Allelic polygene diagnosis of reward deficiency syndrome and treatment". Google Patents. 29 April 1997. Retrieved 23 June 2018 ... The term refers to an inborn chemical imbalance that alters the intercellular signaling in the brain's reward process and can ... "Allelic Association of Human Dopamine D2 Receptor Gene in Alcoholism". Journal of the American Medical Association. 263 (15): ... "Allelic Association of Human Dopamine D2 Receptor Gene in Alcoholism". Journal of the American Medical Association. 263 (15): ...
These mutations cause total absence or loss-of-function of SP-B and lead to imbalance in surfactant homeostasis. Since SP-B has ... There are more than 150 different mutations throughout ABCA3 gene with various allelic heterogeneity, making it the biggest ...
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 ...
Results of one study investigating a cohort of 315 men revealed changes within the hinge region of SF-1 and no rare allelic ... There may be testicular malformations, hormone imbalance, or blockage of the man's duct system. Although many of these can be ...
Allelic architecture of disease[edit]. Main article: Population groups in biomedicine. Sometimes the link between a disease and ... 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. ... Reich DA, Lander ES (2001). "On the allelic spectrum of human disease". Trends Genet. 17: 502-510. doi:10.1016/s0168-9525(01) ...
In cases of allelic heterogeneity, the MIM number of the entry is followed by a decimal point and a unique 4-digit number ... DECIPHER, a database of chromosomal imbalance and associated phenotype in humans, using Ensembl resources. ... "Hemoglobin beta locus or HBB (141900): Allelic variants". Online Mendelian Inheritance in Man. Baltimore, MD: McKusick-Nathans ... specifying the variant.[9] For example, allelic variants in the HBB gene (141900) are numbered 141900.0001 through 141900.0538. ...
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 ...
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). This hypothesis was widely- ...
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 ...
Allelic Imbalance Is a Prevalent and Tissue-Specific Feature of the Mouse Transcriptome. View ORCID ProfileStefan F. Pinter, ... Allelic Imbalance Is a Prevalent and Tissue-Specific Feature of the Mouse Transcriptome. View ORCID ProfileStefan F. Pinter, ... Allelic Imbalance Is a Prevalent and Tissue-Specific Feature of the Mouse Transcriptome. View ORCID ProfileStefan F. Pinter, ... Allelic imbalance attributed to genotypic variation is by far the most prevalent class and typically is tissue-specific. ...
High-resolution analysis of allelic imbalance in neuroblastoma cell lines by single nucleotide polymorphism arrays.. Carr J1, ... SNP array analysis is a powerful tool for the detection of allelic imbalance in neuroblastoma and also allows identification of ... microarrays to detect copy number changes and allelic imbalance in six neuroblastoma cell lines (IMR32, SHEP, NBL-S, SJNB-1, LS ...
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, ...
Allele specific expression identifies rare variants as cause for extreme allelic imbalance. BIOS Consortium, Jul-2019, In : ...
Allelic Imbalance in BRCA1 and BRCA2 Gene Expression and Familial Ovarian Cancer. Jie Shen, Leo Medico and Hua Zhao ... Allelic imbalance in BRCA1 and BRCA2 gene expression is associated with an increased breast cancer risk. Hum Mol Genet 2008;17: ... Allelic imbalance (AI) of BRCA1/2 expression, a result of a significant decrease in the ratios between the expression from one ... Allelic imbalance (AI) is defined as the decrease of the ratios between the expressions from the variant allele and the ...
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 ...
Allelotyping studies have proposed the existence of at least four regions of allelic imbalance (AI). Here we present a study ... Allelotyping studies have proposed the existence of at least four regions of allelic imbalance (AI). Here we present a study ... 17q21-q25 aberrations in breast cancer: combined allelotyping and CGH analysis reveals 5 regions of allelic imbalance among ... Analysis of the patterns of imbalances revealed at least five common regions of imbalance respectively defined by markers: ...
Detection of Allelic Imbalance in Ascitic Supernatant by Digital Single Nucleotide Polymorphism Analysis. Hsueh-Wei Chang, Syed ... Detection of Allelic Imbalance in Ascitic Supernatant by Digital Single Nucleotide Polymorphism Analysis ... Detection of Allelic Imbalance in Ascitic Supernatant by Digital Single Nucleotide Polymorphism Analysis ... Detection of Allelic Imbalance in Ascitic Supernatant by Digital Single Nucleotide Polymorphism Analysis ...
Allelic imbalance reveals widespread germline-somatic regulatory differences and prioritizes risk loci in Renal Cell Carcinoma ... Allelic imbalance reveals widespread germline-somatic regulatory differences and prioritizes risk loci in Renal Cell Carcinoma ... Allelic imbalance reveals widespread germline-somatic regulatory differences and prioritizes risk loci in Renal Cell Carcinoma ... Allelic imbalance reveals widespread germline-somatic regulatory differences and prioritizes risk loci in Renal Cell Carcinoma ...
Allelic imbalance at the LKB1 (STK11) locus in tumours from patients with Peutz-Jeghers syndrome provides evidence for a ... Allelic imbalance [allele loss, loss of heterozygosity (LOH)] has previously been reported in a small number of PJS polyps, ... This study confirms allelic loss at LKB1 in PJS polyps and shows that LOH also occurs in cancers of the colon, breast, and ...
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 ...
... 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 ...
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 ...
EGFR mutant allelic-specific imbalance assessment in routine samples of non-small cell lung cancer ... EGFR mutant allelic-specific imbalance assessment in routine samples of non-small cell lung cancer ... EGFR mutant allele-specific imbalance (MASI) occurs when the ratio of mutant-to-wild-type alleles increases significantly. In ...
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 ...
Allelic imbalance in chimpanzee and human neural progenitors.. Posted on June 20, 2021 by Skylar Montague Redecke , Leave a ... We tested for allelic imbalance in various genes expressed in chimpanzee and human neural progenitor cells, such as the CCNG1 ... Eventually, we would expect to uncover allelic imbalances in genes that regulate the cell cycle in neural progenitors and the ... These imbalances would give insight into some of the genes that drive the neuronal differences between humans and chimpanzees. ...
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={ ...
... 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 ...
keywords = "8q24, Allelic imbalance, DNA copy number, MYC gene",. author = "H. Chen and W. Liu and W. Roberts and S. Hooker and ... 8q24 allelic imbalance and MYC gene copy number in primary prostate cancer. / Chen, H.; Liu, W.; Roberts, W.; Hooker, S.; Fedor ... 8q24 allelic imbalance and MYC gene copy number in primary prostate cancer. Prostate Cancer and Prostatic Diseases. 2010 Sep 1; ... Chen, H. ; Liu, W. ; Roberts, W. ; Hooker, S. ; Fedor, H. ; DeMarzo, A. ; Isaacs, W. ; Kittles, R. A. / 8q24 allelic imbalance ...
... we demonstrate a high sensitivity and specificity of the strategy for detecting both minute and gross allelic imbalances in ... We present a strategy for detection of loss-of-heterozygosity and allelic imbalance in cancer cells from whole genome single ... Calling of allelic imbalances for the segmentation approach. Regions of allelic imbalance may be called by comparison of the ... the sensitivity for a simulated allelic imbalance is the fraction of its SNPs that are called as allelic imbalance, and the ...
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… ...
Microsatellite instability and 8p allelic imbalance in stage B2 and C colorectal cancers. / Halling, Kevin C.; French, Amy J.; ... Fingerprint Dive into the research topics of Microsatellite instability and 8p allelic imbalance in stage B2 and C colorectal ... Microsatellite instability and 8p allelic imbalance in stage B2 and C colorectal cancers. Journal of the National Cancer ... To our knowledge, this is the first report of an association between 8p allelic imbalance and survival in patients with ...
... 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 ...
Allelic imbalance on chromosome 5q predicts long-term survival in neuroblastoma. S. J. Meltzer, S. P. ODoherty, C. N. Frantz, ... Allelic imbalance on chromosome 5q predicts long-term survival in neuroblastoma. / Meltzer, S. J.; ODoherty, S. P.; Frantz, C ... Allelic imbalance on chromosome 5q predicts long-term survival in neuroblastoma. British journal of cancer. 1996 Jan 1;74(12): ... Allelic imbalance was found only in tumours containing a single copy of the N-myc gene and exhibiting hyperdiploidy. All nine ...
... and identify cases of allelic imbalance (AI). RNA-seq is the ... A flexible Bayesian method for detecting allelic imbalance in ... 2014) A flexible Bayesian method for detecting allelic imbalance in RNA-seq data. BMC Genomics 15(1):920. [abstract] ... and identify cases of allelic imbalance (AI). RNA-seq is the most common way to measure ASE and a binomial test is often ...
Contribution of allelic imbalance to colorectal cancer In this study the authors examine the allelic imbalance (AI) landscape ... Allelic losses occurring in cancer cells have been suggested as potential targets for therapy. Here, the authors show how ...
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. ...
Allelic expression imbalance (AEI) has been applied to indicate potential function of genetic variants. Combining earlier ... Allelic expression imbalance polymorphisms in susceptibility chromosome regions and the risk and survival of breast cancer Wei ... Allelic expression imbalance polymorphisms in susceptibility chromosome regions and the risk and survival of breast cancer Wei ... Allelic expression imbalance screening of genes in chromosome 1q21-24 region to identify functional variants for Type 2 ...
Allelic imbalance at one or more loci was seen in 87%, of informative tumors. Allelic imbalance on chromosome 17p was seen in ... Allelic imbalance at one or more loci was seen in 87%, of informative tumors. Allelic imbalance on chromosome 17p was seen in ... Allelic imbalance at one or more loci was seen in 87%, of informative tumors. Allelic imbalance on chromosome 17p was seen in ... Allelic imbalance at one or more loci was seen in 87%, of informative tumors. Allelic imbalance on chromosome 17p was seen in ...
Microsatellite instability and allelic imbalance in primary and secondary colorectal cancer. Australian and New Zealand Journal ... Microsatellite instability and allelic imbalance in primary and secondary colorectal cancer. Anne Schneider, Serge Rohr, ... Microsatellite instability and allelic imbalance in primary and secondary colorectal cancer. / Schneider, Anne; Rohr, Serge; ... keywords = "Allelic imbalance, Colorectal cancer, Microsatellite instability",. author = "Anne Schneider and Serge Rohr and ...
  • 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)
  • EGFR mutant allele-specific imbalance (MASI) occurs when the ratio of mutant-to-wild-type alleles increases significantly. (bmj.com)
  • Based on phased genotypes at heterozygous SNP positions, we generated allelic counts for expression of the maternal and paternal alleles in each individual. (omicsdi.org)
  • We demonstrate an asymmetry in the detection of the two alleles for each SNP, which deleteriously influences both allelic proportions and copy number estimates. (biomedcentral.com)
  • SNP analysis (rs8034564) indicated there was an allelic‑switch of the two parental alleles. (spandidos-publications.com)
  • Selected alleles are revealed by allelic imbalance in amplification across samples. (harvard.edu)
  • Allelic imbalance [allele loss, loss of heterozygosity (LOH)] has previously been reported in a small number of PJS polyps, suggesting that LKB1 acts as a tumour suppressor in these tumours. (nih.gov)
  • We present a strategy for detection of loss-of-heterozygosity and allelic imbalance in cancer cells from whole genome single nucleotide polymorphism genotyping data. (biomedcentral.com)
  • 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)
  • In order to characterize the nature of the genetic events revealed by allelotyping we performed CGH analysis on a subset of 43 tumors presenting variable patterns of imbalance. (nih.gov)
  • Clinico-pathological correlations indicated that imbalance at 17q preferentially occurred in high grade, PR- and ERBB2 amplified tumors. (nih.gov)
  • Using a dilution series of a tumor cell line mixed with its paired normal cell line and data generated on Affymetrix and Illumina platforms, including paired tumor-normal samples and tumors characterized by fluorescent in situ hybridization, we demonstrate a high sensitivity and specificity of the strategy for detecting both minute and gross allelic imbalances in heterogeneous tumor samples. (biomedcentral.com)
  • Methods: Tumors from 508 patients were evaluated for MSI and allelic imbalance by use of 11 microsatellite markers located on chromosome arms 5q, 8p, 15q, 17p, and 18q. (elsevier.com)
  • The group of patients whose tumors exhibited allelic imbalance at chromosome 8p had decreased survival (P = .02) and time to recurrence (P = .004). (elsevier.com)
  • We therefore developed a Single Nucleotide Polymorphism (SNP) assay to evaluate allelic imbalance at the HER2/TOP2A locus in three different entities of primary breast tumors. (biomedcentral.com)
  • Allelic imbalance was observed in 13/15 (87 %) HER2 positive tumors, the remaining 2 being inconclusive. (biomedcentral.com)
  • Of the 13 hormone receptor positive tumors, 5 (38 %) displayed allelic imbalance, while 8 did not. (biomedcentral.com)
  • Based on allelic imbalance at this locus, both triple negative and ER and PR positive breast tumors can be subcategorized. (biomedcentral.com)
  • Allelic imbalance at one or more loci was seen in 87%, of informative tumors. (elsevier.com)
  • Allelic imbalance on chromosome 17p was seen in 84% of informative tumors, and its presence was associated with a significantly poor disease-free survival (p = 0.015) and overall survival (p = 0.05). (elsevier.com)
  • Cloning/sequencing in tumors carrying multiple TP53 mutations and semiquantitative SNaPShot mutation assay was performed in order to assess eventual allelic expression imbalances (AEI). (cdc.gov)
  • Other recurrent events included LOH on 3p (9 tumors), 2q, 8p, and 13 (each in 8 SCC) and allelic gain on 3q and 8q (each in 6 tumors). (dundee.ac.uk)
  • Four regions of allelic imbalance on 17q12-qter associated with high-grade breast tumors. (openrepository.com)
  • Allelic imbalance and microsatellite instability in BRCA1 associated breast and ovarian tumors. (openrepository.com)
  • Examination of nascent transcripts in single cells from inbred parental strains reveals that genes showing genotype-based imbalance in hybrids can also exhibit monoallelic expression in isogenic backgrounds. (genetics.org)
  • 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 tested for allelic imbalance in various genes expressed in chimpanzee and human neural progenitor cells, such as the CCNG1 gene and Sox1 gene. (duke.edu)
  • Eventually, we would expect to uncover allelic imbalances in genes that regulate the cell cycle in neural progenitors and the transition of NP into neurons, astrocytes, or oligodendrocytes. (duke.edu)
  • These imbalances would give insight into some of the genes that drive the neuronal differences between humans and chimpanzees. (duke.edu)
  • These genes can be further investigated to uncover the specific mutations in the coding or non-coding regions that are responsible for the allelic imbalances that have evolved between chimpanzees and humans. (duke.edu)
  • LOH analysis has in the past been a vital tool for the discovery of chromosomal regions harboring tumor-suppressor genes when inactivated by the classic mechanism of allelic loss [ 7 ]. (biomedcentral.com)
  • Allelic expression imbalance screening of genes in chromosome 1q21-24 region to identify functional variants for Type 2 diabetes susceptibility. (cdc.gov)
  • 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)
  • 2016. Allelic imbalance of multiple sclerosis susceptibility genes IKZF3 and IQGAP1 in human peripheral blood. (uib.no)
  • Results Sixty percent of the genes studied showed allelic imbalance across 53 SNPs. (gu.se)
  • Background: Microsatellite instability (MSI) and allelic imbalance involving chromosome arms 5q, 8p, 17p, and 18q are genetic alterations commonly found in colorectal cancer. (elsevier.com)
  • We examined allelic imbalance at the locus of the tumour-suppressor gene, APC (adenomatous polyposis coli), on chromosome 5q using a polymerase chain reaction (PCR)-based assay. (elsevier.com)
  • Allelic imbalance at three additional loci on chromosome 5 was demonstrated in tumours that exhibited AI at the APC locus, suggesting that endoreduplication of chromosome 5 had occurred. (elsevier.com)
  • These data suggest that allelic imbalance of chromosome 5 is involved in at least a subset of neuroblastomas and influences survival in patients with neuroblastoma. (elsevier.com)
  • These data suggest that allelic imbalance on chromosome 17p is an independent prognostic parameter in patients with potentially curative resected liver metastases from CRC. (elsevier.com)
  • Chromosome arm 17p is frequently altered in a variety of human cancers, especially in breast cancer, and allelic imbalances (AIs) in the region 17p13.1 do not always coincide with mutations in the TP53 gene. (elsevier.com)
  • Mutation of the TP53 gene and allelic imbalance at chromosome 17p13 in ductal carcinoma in situ. (openrepository.com)
  • High-resolution analysis of allelic imbalance in neuroblastoma cell lines by single nucleotide polymorphism arrays. (nih.gov)
  • We report the use of 10K single nucleotide polymorphism (SNP) microarrays to detect copy number changes and allelic imbalance in six neuroblastoma cell lines (IMR32, SHEP, NBL-S, SJNB-1, LS, and SKNBE2c). (nih.gov)
  • We have used single nucleotide polymorphism (SNP) microarray analysis to examine genome-wide allelic imbalance in 16 primary and 2 lymph node metastatic SCC using paired non-tumour samples to counteract normal copy number variation. (dundee.ac.uk)
  • Leicester Research Archive: A study of allelic imbalance in human breast cancer. (le.ac.uk)
  • A study of allelic imbalance in human breast cancer. (le.ac.uk)
  • In this context, the study of allelic imbalance in intermediate RNA phenotypes may prove a useful means to elucidate the likely effects of DNA variants of unknown significance. (uio.no)
  • 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)
  • Allelic imbalances in tumor samples are observed in BAF plots as a deviation from 0.5 of SNPs heterozygous in cells with constitutional genotype. (biomedcentral.com)
  • However, such samples often contain normal cell components and tumor cell subpopulations causing a dilution of tumor cell-specific imbalances. (biomedcentral.com)
  • Dilution of tumor cell specific allelic imbalances is seen in BAF plots as a compression of the split heterozygous populations towards the heterozygous center (at BAF = 0.5). (biomedcentral.com)
  • Allelic imbalance at each locus and the presence of tumor microsatellite instability were correlated with clinicopathologic features of the tumor and clinical course of the patient. (elsevier.com)
  • 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)
  • No allelic imbalance targeting the SNPs was observed at any of the seven loci. (biomedcentral.com)
  • Finally, we observed that a subset of allelic chromatin domains is regulated by DNase I-sensitive quantitative trait loci and that these domains are significantly enriched for genome-wide association studies hits, with autoimmune disease associated SNPs specifically enriched in lymphoblasts. (sigmaaldrich.com)
  • Allelic imbalance in familial and sporadic prostate cancer at the putative human prostate cancer susceptibility locus, HPC1. (semanticscholar.org)
  • We conclude that the SNP assay is suitable for rapid testing of allelic (im)balance at the HER2/TOP2A locus using paraffin-embedded tissues. (biomedcentral.com)
  • The clinical relevance of the allelic (im)balance status at the HER2/TOP2A locus in breast cancer is subject of future study. (biomedcentral.com)
  • Nine of 24 (37.5%) informative neuroblastoma tumours showed allelic imbalance (AI) at this locus. (elsevier.com)
  • In meiosis, there is a strong preference to use the orthologous region (allelic gene conversion), which causes non-Mendelian allelic distortion, but paralogous or duplicated regions can also be used for the repair (inter-locus gene conversion, also referred to as non-allelic and ectopic gene conversion). (mdpi.com)
  • The purpose of this study was to characterize molecular genetic alterations, including microsatellite instability and allelic imbalance, in patients with potentially curative resected liver metastases from CRC and to correlate these molecular features with clinical and pathologic characteristics. (elsevier.com)
  • Methods: Modifications of the allelic profiles of 25 microsatellite regions were studied in a total of 85 colorectal tumours using fluorescent polymerase chain reaction (PCR) technology and subsequent direct analysis on an automatic sequencer. (edu.kz)
  • This approach was used because it allows the study of microsatellite instability and allelic imbalance. (edu.kz)
  • Habib, Nagy A. / Microsatellite instability and allelic imbalance in primary and secondary colorectal cancer . (edu.kz)
  • 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)
  • Using an allelic expression assay, Zhang and colleagues ( 19 ) found a 1.5-fold reduction in allele-specific mRNA expression in postmortem brain tissue and also a 10-fold reduction in protein levels in CHO cells expressing the G118 variant, supporting a loss of function of the receptor. (pnas.org)
  • The detection of differential allelic expression (DAE) represents a sensitive assay to direct the search for a functional sequence variant within the transcriptional regulatory elements of a candidate gene. (biomedcentral.com)
  • To test this hypothesis, we applied a quantitative, allelic-specific, real-time PCR method to survey the levels of AI in BRCA1/2 in lymphoblastoid cell lines (LCL) from 126 familial ovarian cancer patients who are noncarriers of any known BRCA1/2 and MLH/MSH mutations and 118 cancer-free relative controls. (aacrjournals.org)
  • However, some genotype-based imbalance is maintained across tissues and is associated with greater genetic variation, especially in 5′ and 3′ termini of transcripts. (genetics.org)
  • We developed a statistical framework for the assessment of allelic imbalance in next-generation transcriptome sequencing (RNA-seq) data that requires knowledge neither of an expression reference nor of the underlying nuclear genotype(s), and that allows for sequencing errors. (uio.no)
  • Both extensive simulations under a wide range of practically relevant scenarios and application to publicly available whole-transcriptome data with auxiliary genotype information showed superior power of our approach in terms of both genotype inference and allelic imbalance assessment, compared to the more naïve approach of completely ignoring allele miscalls, particularly at low sequencing coverage. (uio.no)
  • Allelic loss or imbalance in tumour tissue is often the hallmark of a TSG. (semanticscholar.org)
  • Stepwise logistic regression analysis was used to develop a model to predict whether the tumour was primary or secondary from the percentage of allelic imbalance. (edu.kz)
  • Three probes (d18s53, d9s158 and d10s191) were selected for use in a model to classify a tumour as primary or secondary on the basis of the degree of allelic imbalance. (edu.kz)
  • Possible somatic gain of the risk allele or loss of the protective allele was studied by analyzing allelic imbalance in tumour and corresponding normal tissue samples of heterozygous patients. (biomedcentral.com)
  • Fig. 4: Observed allelic imbalance in chromatin accessibility data. (nature.com)
  • Interrogation of allelic chromatin states in human cells by high-density ChIP-genotyping. (sigmaaldrich.com)
  • However, development of chromatin landscapes at allelic resolution has been challenging since sites of variable signal strength require substantial read depths not commonly applied in sequencing based approaches. (sigmaaldrich.com)
  • We also found that allelic chromatin domains exhibit population and cell-type specificity as well as heritability within trios. (sigmaaldrich.com)
  • Allelic imbalance was assessed for markers reported to be highly polymorphic in squamous cell carcinomas and in oral dysplasias. (aacrjournals.org)
  • One method of identifying cis regulatory differences is to analyze allele-specific expression (ASE) and identify cases of allelic imbalance (AI). (rna-seqblog.com)
  • also called allele-specific expression or allelic imbalance) analysis is becoming an increasingly important tool for this, as it quantifies expression variation between the two haplotypes of a diploid individual distinguished by heterozygous sites (Fig. 1a ). (biomedcentral.com)
  • By incorporating gene expression data, we demonstrate synergy between preferential allelic amplification and expression in DOCK4 and EGFR. (harvard.edu)
  • Lip cancer and pre-cancerous lesions harbor TP53 mutations, exhibit allelic loss at 9p, 9q, and 17p, but no BRAFV600E mutations. (cdc.gov)
  • The ability to assess somatic mutations and allelic imbalance in one and the same RNA-seq data set will make our framework particularly well suited for the analysis of somatic genetic variation in cancer studies. (uio.no)
  • An Allelic Series of Mutations in the Kit ligand Gene of Mice. (genetics.org)
  • An allelic series of mutations is an extremely valuable genetic resource for understanding gene function. (genetics.org)
  • Allelic imbalance (AI) of BRCA1/2 expression, a result of a significant decrease in the ratios between the expression from one allele of BRCA1/2 and the other allele, has been observed in breast cancer. (aacrjournals.org)
  • We validated the asQTL variant through CRISPR interference (CRISPRi) and demonstrated a concomitant allelic effect on the overlapping enhancer and on downstream SCARB1 expression. (biorxiv.org)
  • Allelic expression imbalance of the human CYP3A4 gene and individual phenotypic status. (semanticscholar.org)
  • The higher expression of R213R TP53 polymorphic allele in cancer tissue compared to normal tissue demonstrates a noninherited variation in allelic expression, independently from its mutation status for exons 5-8, suggesting a potential contribution to TP53 expression in HNSCC disease. (cdc.gov)
  • Allelic expression analysis has become important for integrating genome and transcriptome data to characterize various biological phenomena such as cis -regulatory variation and nonsense-mediated decay. (biomedcentral.com)
  • We analyze the properties of allelic expression read count data and technical sources of error, such as low-quality or double-counted RNA-seq reads, genotyping errors, allelic mapping bias, and technical covariates due to sample preparation and sequencing, and variation in total read depth. (biomedcentral.com)
  • We provide guidelines for correcting such errors, show that our quality control measures improve the detection of relevant allelic expression, and introduce tools for the high-throughput production of allelic expression data from RNA-sequencing data. (biomedcentral.com)
  • Allelic expression and its sources. (biomedcentral.com)
  • However, association of allelic expression with heritable regulatory polymorphisms or epigenetic mechanisms may not be straightforward. (sciencemag.org)
  • For example, different mechanisms have been suggested to underlie allelic expression of the human TP73 gene in noncancerous cells and tissues ranging from heritable polymorphisms ( 10 ) to tissue-specific monoallelic expression ( 11 ). (sciencemag.org)
  • Notably, we found H3K4me1 to be significantly anti-correlated with allelic expression (AE) at transcription start sites, indicating H3K4me1 allelic imbalance as a marker of AE. (sigmaaldrich.com)
  • The expression of IRAIN was di‑allelic in healthy pharynx tissue, laryngeal carcinoma tissue and paracancerous tissue. (spandidos-publications.com)
  • IRAIN allelic expression imbalance was present in laryngeal carcinoma and paracancerous tissue, but not in healthy pharynx tissue. (spandidos-publications.com)
  • Thus, detection of IRAIN allelic expression imbalance and aberrant allele‑switch may serve as an early diagnostic marker of laryngeal carcinoma. (spandidos-publications.com)
  • We observed allelic expression imbalance in 4 of the 41 LCLs examined. (biomedcentral.com)
  • Statistical Inference of Allelic Imbalance from Transcriptome Data. (uio.no)
  • This study provides the first genome-wide maps of allelic-imbalance for five histone marks. (sigmaaldrich.com)
  • 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)
  • We also studied the allelic imbalance at 1100delC in the colorectal tumours from patients with a germline 1100delC mutation. (bmj.com)
  • SNP array analysis is a powerful tool for the detection of allelic imbalance in neuroblastoma and also allows identification of LOH without changes in copy number (uniparental disomy). (nih.gov)
  • Analysis of the patterns of imbalances revealed at least five common regions of imbalance respectively defined by markers: D17S855, which is intragenic of BRCA1 (SRO 1), D17S1607 (SRO 2), D17S1855 (SRO 3), between D17S789 and D17S785 (SRO 4) and D17S784 (SRO 5). (nih.gov)
  • Allelic imbalance in the region of the BRCA1 gene in ductal carcinoma in situ of the breast. (openrepository.com)
  • 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. (openrepository.com)
  • This study confirms allelic loss at LKB1 in PJS polyps and shows that LOH also occurs in cancers of the colon, breast, and cervix in PJS patients. (nih.gov)
  • Allelotyping studies have proposed the existence of at least four regions of allelic imbalance (AI). (nih.gov)
  • 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 makes the rate of gene conversion between allelic regions higher than that between duplicates with a certain level of divergence. (mdpi.com)
  • High density SNP arrays help scientists identify patterns of allelic imbalance. (wikipedia.org)
  • We observed characteristic patterns of allelic-imbalance for each histone-modification around allele-specifically expressed transcripts. (sigmaaldrich.com)
  • Allelic-imbalance in splicing patterns confirmed that the majority are regulated mainly by cis-genetic effects.The observed variation in splicing patterns are predicted to have limited effects on the encoded protein sequences.To our knowledge, this is the first sQTL mapping study in Drosophila. (nih.gov)
  • Allelic-imbalance in splicing patterns confirmed that the majority are regulated mainly by cis-genetic effects. (nih.gov)
  • Allelic imbalance attributed to genotypic variation is by far the most prevalent class and typically is tissue-specific. (genetics.org)
  • DNA and RNA were extracted from tissue specimens and the IRAIN allelic gene was sequenced. (spandidos-publications.com)
  • This analysis also confirmed other work that has shown a direct relationship between the degree of allelic imbalance and the stage of disease. (edu.kz)
  • The results of the allelic imbalance analysis suggest that the seven CRC risk variants are not somatically selected for in the neoplastic progression. (biomedcentral.com)
  • While most types of errors may be rare, they are easily enriched among sites with allelic imbalance, and can sometimes mimic the biological signal of interest, thus warranting careful analysis. (biomedcentral.com)
  • The allelic ratio of transcripts from targeted RNAseq was determined via ASE analysis. (gu.se)
  • Here, we investigated allelic imbalance (AI) at 8q24 risk variants and MYC gene DNA copy number (CN) in 27 primary Pcas. (elsevier.com)
  • 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)
  • To our knowledge, this is the first report of an association between 8p allelic imbalance and survival in patients with colorectal cancer. (elsevier.com)
  • Cancer development involves genomic aberrations such as gene copy number gains or losses and allele-specific imbalances [ 1 ]. (biomedcentral.com)
  • Methods and systems for detecting allelic imbalance using nucleic acid sequencing are provided. (patents.com)
  • Allelic imbalance in chimpanzee and human neural progenitors. (duke.edu)
  • Human APC2 localization and allelic imbalance. (ebi.ac.uk)
  • In this paper, we describe a new tool in the Genome Analyzer Toolkit (GATK) software package for efficient retrieval of raw allelic count data from RNA-seq data, and analyze the properties of AE data and the sources of errors and technical variation, with suggested guidelines for accounting for them. (biomedcentral.com)
  • 70% of these showed allelic imbalance (AI) at one or more markers in or distal to 12q21. (yonsei.ac.kr)