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2,339,600 | Unusual functioning endocrine tumors. | Endocrine surgeons should maintain a high index of suspicion when patients are diagnosed with clinical signs or symptoms of parathyroid carcinoma. Although rare, the best chance for cure of these patients is at the time of the initial operation. Surgical resection of recurrent disease can provide effective palliation a... |
2,339,601 | DNA fusion gene vaccines against cancer: from the laboratory to the clinic. | Vaccination against target antigens expressed by cancer cells has now become a realistic goal. DNA vaccines provide a direct link between identification of genetic markers in tumors and vaccine formulation. Simplicity of manufacture facilitates construction of vaccines against disease subsets or even for individual pat... |
2,339,602 | Risks of interleukin-1 genetic polymorphisms and Helicobacter pylori infection in the development of gastric cancer. | The host genetic factors that determine the clinical outcomes of Helicobacter pylori-infected individuals remain unclear.</AbstractText>To elucidate the risks of host interleukin-1 (IL-1) genetic polymorphisms and H. pylori infection in the development of gastric cancer.</AbstractText>In a case-control study of 164 con... |
2,339,603 | Genetic prenatal RET testing and pregnancy management of multiple endocrine neoplasia Type II A (MEN2A): a case report. | Multiple endocrine neoplasia 2A (MEN 2A) is an inherited dominant syndrome characterised by medullary thyroid carcinoma, adrenal pheochromocytoma and hyperparathyroidism due to specific RET proto-oncogene mutations. Fertile MEN 2A women are at risk of complicated pregnancy because of unrecognised pheochromocytoma and t... |
2,339,604 | Genetic structure adds power to detect schizophrenia susceptibility at SLIT3 in the Chinese Han population. | The Chinese Han population, the largest population in the world, has traditionally been geographically divided into two parts, the Southern Han and Northern Han. In practice, however, these commonly used ethnic labels are both insufficient and inaccurate as descriptors of inferred genetic clustering, and can lead to th... |
2,339,605 | STR typing of ductal adenocarcinomas of the pancreas and healthy control tissue in 18 individuals. | Recently, different work groups have demonstrated that short tandem repeat (STR) typing of various tumor tissues may lead to erroneous results due to tumor microsatellite instability (MSI). This may have considerable implications for genetic profiling of tumor tissue, e.g. in paternity testing or sample individualizati... |
2,339,606 | Association genetics of complex traits in conifers. | Association studies are becoming the experimental approach of choice to dissect complex traits in many organisms from humans to model plant systems. The candidate gene based-association approach has several important advantages for complex trait dissection in many coniferous forest tree species, including random mating... |
2,339,607 | Interhemispheric transfer in high-functioning children and adolescents with autism spectrum disorders: a controlled pilot study. | Autism is a neurodevelopmental disorder with strong genetic influences. Clinical experience and limited empirical evidence support the view that autism may be associated with aberrant interhemispheric information transfer. This empirical controlled study examined whether, at neuropsychological testing, children with au... |
2,339,608 | Multiplexed assays for identification of biomarkers and surrogate markers in systemic lupus erythematosus. | Validated biomarkers and surrogate markers are badly needed for monitoring patients with systemic lupus erythematosus (SLE), both for routine clinical care and for clinical trials research. SLE is difficult to study in clinical trials, in part because the disease is so heterogeneous. Very few useful markers have been i... |
2,339,609 | Evidence of common and specific genetic effects: association of the muscarinic acetylcholine receptor M2 (CHRM2) gene with alcohol dependence and major depressive syndrome. | Several correlated phenotypes, alcohol dependence, major depressive syndrome, and an endophenotype of electrophysiological measurements, event-related oscillations (EROs), have demonstrated linkage on the long arm of chromosome 7. Recently, we reported both linkage and association between polymorphisms in the gene enco... |
2,339,610 | The impact of population heterogeneity on risk estimation in genetic counseling. | Genetic counseling has been an important tool for evaluating and communicating disease susceptibility for decades, and it has been applied to predict risks for a wide class of hereditary disorders. Most diseases are complex in nature and are affected by multiple genes and environmental conditions; it is highly likely t... |
2,339,611 | 844ins68 in the cystathionine beta-synthase gene in Israel and review of its distribution in the world. | The 844ins68 allele in the cystathionine beta-synthase gene is always found in cis with the T833C mutation further indicating that its origin is monophyletic and that it might be a useful anthropogenetic marker. Its frequency was examined in 1087 randomly chosen subjects from Israel (twelve Jewish communities and Pales... |
2,339,612 | Bluetongue surveillance methods in an endemic area: Australia. | Surveillance for bluetongue (BT) viruses (BTV) has been carried out in the Northern Territory, Australia since 1980. The number of sites, intensity of sampling and methods of testing have varied during this period. Monthly serology is conducted at a number of sentinel sites and intensive weekly sampling for virus isola... |
2,339,613 | Molecular stool screening for colorectal cancer. | Mass screening for colorectal cancer reduces mortality and, with recent advances in molecular genetics, molecular stool-based tests have produced promising results. This article reviews this innovation and discusses its clinical significance.</AbstractText>Medline searches were used to identify recent key articles rela... |
2,339,614 | High plasma pravastatin concentrations are associated with single nucleotide polymorphisms and haplotypes of organic anion transporting polypeptide-C (OATP-C, SLCO1B1). | This study aimed to characterize possible relationships between polymorphisms in the drug transporter genes organic anion transporting polypeptide-C (OATP-C, SLCO1B1), OATP-B (SLCO2B1), multidrug resistance-associated protein 2 (MRP2, ABCC2) and multidrug resistance transporter (MDR1, ABCB1) and the pharmacokinetics of... |
2,339,615 | Attitudes to predictive DNA testing for myocilin glaucoma: experience with a large Australian family. | Glaucoma is a major cause of visual impairment and blindness in developed countries. Half of those with glaucoma are unaware that they have the disease. Mutations in the myocilin (MYOC) gene are responsible for 3 to 5% of primary open angle glaucoma, thus predictive DNA testing in family members of some glaucoma pedigr... |
2,339,616 | Total protein concentration in human amniotic fluid is negatively associated with infant birth weight. | Our objectives were 2-fold: 1) to assess the concentration and distribution of total protein in human amniotic fluid (AF) using 3 standard assays [Bradford, bicinchoninic acid solution (BCA), and Lowry] and 2) to establish whether these total protein concentrations were associated with and predictive of infant birth we... |
2,339,617 | Ethical issues for cancer screenings. Five countries--four types of cancer. | In recent years, medical ethics has become an undisputed part of medical studies. Many people believe that modern advances in medical technology--such as the development of dialysis machines, respirators, magnetic resonance imaging, and genetic testing and types of cancer screenings--have created the bioethical dilemma... |
2,339,618 | [Cystinosis: diagnosis through the measurement of the leukocyte cystine content by HPLC]. | Cystinosis is an autosomal recessive disorder characterized by an accumulation of intralysosomal cystine. Three disease forms exist, infantile, juvenile or late-onset, and ocular nonnephropathic cystinosis, delineated on the basis of severity of symptoms and age of onset. The knowledge of early clinic manifestations an... |
2,339,619 | A systematic review of the literature examining the diagnostic efficacy of measurement of fractionated plasma free metanephrines in the biochemical diagnosis of pheochromocytoma. | BACKGROUND: Fractionated plasma metanephrine measurements are commonly used in biochemical testing in search of pheochromocytoma. METHODS: We aimed to critically appraise the diagnostic efficacy of fractionated plasma free metanephrine measurements in detecting pheochromocytoma. Nine electronic databases, meeting abstr... |
2,339,620 | Review article: targeted screening for hereditary haemochromatosis in high-risk groups. | Patients with hereditary haemochromatosis are at risk for significant morbidity from iron overload as well as reduced life-expectancy once cirrhosis is established. Although inexpensive, sensitive screening tests and effective therapy are available, there is continued debate regarding the utility of screening for this ... |
2,339,621 | Choroideremia gene testing. | Choroideremia is a chorioretinal degeneration displaying X-linked recessive inheritance. In recent years, technological advances have increased the accessibility of genetic testing for mutations in the gene that lead to this disorder. The disorder itself, approaches for its detection and the steps and the rationale beh... |
2,339,622 | Molecular investigation of the stromal cell-derived factor-1 chemokine in lymphoid leukemia and lymphoma patients from Brazil. | The stromal cell-derived factor-1 (SDF-1) gene contains a common polymorphism, termed SDF1-3'A, in an evolutionarily conserved segment of the 3'-untranslated region (3'-UTR). We compared SDF-1 genotypes in patients diagnosed with lymphoid leukemias and lymphomas. Since the SDF1-3'A variant deletes the MspI restriction ... |
2,339,623 | An unexpectedly high frequency of heterozygosity for alpha-thalassemia in Ashkenazi Jews. | alpha-Thalassemia is among the world's most common single gene disorders, which is most prevalent in the malaria belt. This geographic distribution has been attributed to a selective advantage of heterozygotes against this disease. Unexpectedly, we have found a high frequency of heterozygosity for deletional alpha-thal... |
2,339,624 | Similar HIV-1 evolution and immunological responses at 10 years despite several therapeutic strategies and host HLA Types. | Two sexual partners infected with related HIV-1 viruses and enrolled in different therapeutic strategies including structured treatment interruptions (STI) provided us an opportunity to compare long term (10 years) viral genetic evolution for closely related isolates in different hosts. HLA loci were molecularly typed ... |
2,339,625 | Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1. | Niemann-Pick disease (NPD) results from the deficiency of lysosomal acid sphingomyelinase (SMPD1). To date, out of more than 70-disease associated alleles only a few of them have a significant frequency in various ethnic groups. In contrast, the remainder of the mutations are rare or private. In this paper we report th... |
2,339,626 | X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families. | X-linked spondyloepiphyseal dysplasia tarda is a skeletal dysplasia mainly affecting the vertebrae and epiphyses and commonly associated with the early development of degenerative joint disease. Radiographically the disorder is characterized by a typical hump-shaped deformity of the vertebral bodies. SEDT is caused by ... |
2,339,627 | Molecular diagnosis in LGMD2A: mutation analysis or protein testing? | Limb girdle muscular dystrophy (LGMD) type 2A (LGMD2A) is caused by mutations in the CAPN3 gene encoding for calpain-3, a muscle specific protease. While a large number of CAPN3 gene mutations have already been described in calpainopathy patients, the diagnosis has recently shifted from molecular genetics towards bioch... |
2,339,628 | Functional analysis of polymorphisms in the promoter regions of genes on 22q11. | Segmental aneusomy, which includes chromosome 22 deletion syndrome (del(22)(q11.2q11.2)), has been associated with DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), conotruncal anomaly face (CAF) syndrome, cat-eye syndrome (CES), der(22) syndrome, and duplication of the del(22)(q11.2q11.2) syndrome's typically... |
2,339,629 | Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis. | Achondroplasia is a common form of human dwarfism with characteristically rhizomelic shortening of extremities and relative macrocephaly. It is transmitted as an autosomally dominant inheritance, and about 80% of affected individuals result from sporadic mutations without positive family histories. Achondroplasia comes... |
2,339,630 | A new DR7-DQ8 haplotype resulting from a recombination between the DQA1 and DQB1 loci in a leukemic patient of Caucasoid origin. | Meiotic recombinations within the HLA-DR/DQ subregion are seldomly observed. However the high number of unusual DRB1-DQB1 allelic combinations underline the importance of crossover in shaping the class II haplotypic diversity. We present here the first report of a DQA1-DQB1 recombination event in a leukemic patient as ... |
2,339,631 | Vr2: a new apple scab resistance gene. | Reports from several European countries of the breakdown of the Vf resistance, the most frequently used source of resistance in breeding programs against apple scab, emphasize the urgency of diversifying the basis of apple scab resistance and pyramiding different apple scab resistances with the use of their associated ... |
2,339,632 | [The clinical spectrum of limb-girdle muscular dystrophies type 2I in cases of a mutation in the "fukutin-related- protein"-gene]. | LGMD2I, linked to chromosome 19q13.3, is caused by mutations in the fukutin related protein (FKRP) gene. This myopathy has a variable clinical course with weakness and wasting of the shoulder girdle muscles and proximal extremities, calf hypertrophy, and elevated serum CK. We describe five patients from four families h... |
2,339,633 | Pharmacogenomics. | The discovery of the human genome and subsequent expansion of proteomics research combined with emerging technologies such as functional imaging, biosensors and sophisticated computational biology are producing unprecedented changes in today's healthcare. The expanding knowledge of the molecular basis of cancer has sho... |
2,339,634 | Calibration and error in placental molecular clocks: a conservative approach using the cetartiodactyl fossil record. | The nature of the molecular and fossil record and their limitations must be ascertained in order to gain the most precise and accurate evolutionary timescale using genetic information. Yet the majority of such timescales are based on point estimates using fossils or the molecular clock. Here we document from the primar... |
2,339,635 | Quality control in diagnostic molecular pathology in the Netherlands; proficiency testing for patient identification in tissue samples. | To describe the evolution of proficiency testing for molecular diagnostic pathology with respect to determining unambiguously the patient identity of tissue samples by microsatellite analysis.</AbstractText>Four rounds of quality control exchanges of samples from different patients were sent with the purpose of identif... |
2,339,636 | Genome-wide linkage analysis for severe obesity in french caucasians finds significant susceptibility locus on chromosome 19q. | To ascertain whether distinct chromosomal loci existed that were linked to severe obesity, as well as to utilize the increased heritability of this excessive phenotype, we performed a genome-wide scan in severely obese French Caucasians. The 109 selected pedigrees, totaling 447 individuals, required both the proband an... |
2,339,637 | Prospects for an AIDS vaccine: three big questions, no easy answers. | The unremitting devastation created by the AIDS pandemic will probably only be controlled when a vaccine is developed that is safe, effective, affordable, and simple enough to permit implementation in developing countries where the impact of AIDS is most severe. Although formidable practical, political, economic, socia... |
2,339,638 | Screening for thrombophilia in children: a puzzling decision with unclear implications.<Pagination><StartPage>1193</StartPage><EndPage>1194</EndPage><MedlinePgn>1193-4</MedlinePgn></Pagination><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Tormene</LastName><ForeName>D</ForeName><Initials>D</Initials></Author... | Molecular screening for GJB2 (connexin 26) mutations represents the standard diagnostic approach for the genotype definition of non-syndromic deafness. Nevertheless, a single GJB2 pathogenic mutation is detectable in a relevant number of cases, therefore failing to explain the phenotype. We aimed at assessing the occur... |
2,339,639 | The use of a cell-cycle phase-marker may decrease the percentage of errors when using FISH in PGD. | Fluorescent DNA probes are used to characterise the chromosome constitution of preimplantation embryos. FISH is used to select normal or balanced embryos in carriers of balanced chromosomal rearrangements, for embryo sexing or for aneuploidy screening in women of advanced age, who have had recurrent abortions or IVF fa... |
2,339,640 | Novel hemophilia B mouse models exhibiting a range of mutations in the Factor IX gene. | Animal models have been critical to the development of novel therapeutics in hemophilia. A deficiency of current murine models of hemophilia B is that they are all due to gene deletions, a type of mutation that is relatively rare in the human hemophilia population. We generated mice with a range of mutations in the Fac... |
2,339,641 | SCA db: spinocerebellar ataxia candidate gene database. | The positional candidate gene approach accelerates the discovery of genes involved in disease. However, the properties of such disease genes are very diverse and the sample size of known disease genes is too small and does not warrant success by the use of a machine-learning approach. A user-defined scoring system may ... |
2,339,642 | Modeling human hematopoietic stem cell gene therapy in nonhuman primates. | In the field of gene therapy, hematopoietic stem cells (HSCs) are attractive targets because of their self-renewal and multilineage differentiation potential. These properties make them suitable for treatment of many genetic and hematologic disorders (ie, hemoglobinopathies). The initial trials of gene therapy in human... |
2,339,643 | The leukemogenic risk of integrating retroviral vectors in hematopoietic stem cell gene therapy applications. | Hematopoietic stem cell gene transfer using integrating vectors has been actively investigated for more than two decades as a prospective treatment for several congenital and acquired human diseases, and retroviral vectors encoding potentially therapeutic genes have been the most rigorously pursued. Early trials in hum... |
2,339,644 | Frequency of the ATM IVS10-6T-->G variant in Australian multiple-case breast cancer families. | Germline mutations in the genes BRCA1 and BRCA2 account for only a proportion of hereditary breast cancer, suggesting that additional genes contribute to hereditary breast cancer. Recently a heterozygous variant in the ataxia-telangiectasia mutated (ATM) gene, IVS10-6T-->G, was reported by an Australian multiple-cas... |
2,339,645 | The role of cost-effectiveness analysis in the era of pharmacogenomics. | The broad availability of genetic information and technologies heralds an era when practitioners will utilise genomic testing to individualise patients' care. Pharmacogenomics uses a spectrum of approaches to explore the association of genetic variation with drug efficacy or toxicity. Investigators have described a bro... |
2,339,646 | Algorithmic fusion of gene expression profiling for diffuse large B-cell lymphoma outcome prediction. | Many different methods and techniques have been investigated for the processing and analysis of microarray gene expression profiling datasets. It is noted that the accuracy and reliability of the results are often dependent on the measurement approaches applied, and no single measurement so far is guaranteed to generat... |
2,339,647 | Is cascade testing a sensible method of screening a population for autosomal recessive disorders? | Our aim was to evaluate "cascade testing" as a method of screening a population for autosomal recessive disorders. We used computer simulations to estimate screening performance according to carrier frequency, whether testing would extend to siblings, first or second cousins of identified carriers and family size. Casc... |
2,339,648 | A new insight into fragile X syndrome among Basque population. | The expansion of a trinucleotide repeat [CGG]n located in the FMR1 X-linked gene is the main cause of fragile X syndrome, the most common form of inherited mental retardation. We have analyzed the factors known, to date, to influence the instability of the repeat in 158 normal X chromosomes from the Spanish Basque popu... |
2,339,649 | Microsatellite instability and hMLH1 and hMSH2 gene expression in Taiwanese hereditary nonpolyposis colorectal cancer. | The mutation rate of hMSH2 and hMLH1 (20%) in Taiwanese hereditary nonpolyposis colorectal cancer (HNPCC) is lower than that reported in other countries. This study aimed to examine the microsatellite instability (MSI) status and gene expression pattern of Taiwanese HNPCC in an effort to establish correlation between t... |
2,339,650 | Genome-wide phenotype analysis in ES cells by regulated disruption of Bloom's syndrome gene. | The chief limitation of phenotype-based genetic screening in mammalian systems is the diploid nature of the genome. Cells deficient in the Bloom's syndrome gene (Blm) show an increased rate of loss of heterozygosity. Here we have used a tetracycline-regulated Blm allele (Blm(tet)) to introduce bi-allelic mutations acro... |
2,339,651 | Mismatch repair genes identified using genetic screens in Blm-deficient embryonic stem cells. | Phenotype-driven recessive genetic screens in diploid organisms require a strategy to render the mutation homozygous. Although homozygous mutant mice can be generated by breeding, a reliable method to make homozygous mutations in cultured cells has not been available, limiting recessive screens in culture. Cultured emb... |
2,339,652 | Detection and susceptibility testing of hypermutable Pseudomonas aeruginosa strains with the Etest and disk diffusion. | Resistance development in Pseudomonas aeruginosa from chronically colonized cystic fibrosis (CF) patients has been linked to the presence of a high proportion of mismatch repair-deficient hypermutable strains. The detection of hypermutable strains by microbiology laboratories may be useful for establishing adequate ant... |
2,339,653 | The human genome: lessons for life, love and the law. | In 2003, the Australian Law Reform Commission and the Australian Health Ethics Committee (of the National Health and Medical Research Council) completed a major inquiry into the Protection of Human Genetic Information, focusing on privacy protection; protection against unlawful discrimination based on genetic status; a... |
2,339,654 | Genetics and alcoholism among at-risk relatives II: interest and concerns about hypothetical genetic testing for alcoholism risk.<Pagination><StartPage>151</StartPage><EndPage>155</EndPage><MedlinePgn>151-5</MedlinePgn></Pagination><Abstract><AbstractText>One purpose of this study was to examine hypothetical interest i... | One purpose of this study was to examine hypothetical interest in genetic predisposition testing for alcoholism among at-risk relatives. Qualitative interviews and several quantitative tools were administered to 27 individuals who had at least one first-degree relative affected by alcoholism. Data analysis revealed tha... |
2,339,655 | The peptide nucleic acids (PNAs), powerful tools for molecular genetics and cytogenetics. | Peptide nucleic acids (PNAs) are synthetic mimics of DNA in which the deoxyribose phosphate backbone is replaced by a pseudo-peptide polymer to which the nucleobases are linked. PNAs hybridize with complementary DNAs or RNAs with remarkably high affinity and specificity, essentially because of their uncharged and flexi... |
2,339,656 | A polymorphism of the interleukin-1 beta gene at position +3953 influences progression and neuro-pathological hallmarks of Alzheimer's disease. | Interleukin-1 (IL-1) gene polymorphisms are associated with an increased risk of Alzheimer's disease (AD) and it has been suggested that altered immune responses of the brain may play a role in the pathogenesis of the disease. Here we investigated whether IL-1beta polymorphisms affected neuro-pathological features and ... |
2,339,657 | Interleukin-10 and interleukin-6 gene polymorphisms as risk factors for Alzheimer's disease. | In the pathogenesis of Alzheimer disease (AD), it has been proposed that the anti-inflammatory interleukins such as IL-10 regulate beta-amyloid-induced microglial inflammatory responses inhibiting the proinflammatory cytokine IL-6. Since the promoters of the IL-10 and IL-6 genes show single nucleotide polymorphisms (SN... |
2,339,658 | Sinorhizobium medicae genes whose regulation involves the ActS and/or ActR signal transduction proteins. | ActS-ActR proteins belong to a highly conserved family of two-component signal transduction systems involved in global regulation in the alpha-proteobacteria; they were first identified in Sinorhizobium medicae (previously Sinorhizobium meliloti) as essential for acid-tolerance. This paper reports on the identification... |
2,339,659 | From pharmacogenetics to personalized medicine: a vital need for educating health professionals and the community. | The field of pharmacogenetics will soon celebrate its 50th anniversary. Although science has delivered an impressive amount of information in these 50 years, pharmacogenetics has suffered from lack of integration into clinical practice. There are several reasons for this, including the unmet need for education at medic... |
2,339,660 | The evolution of Queensland spiny mountain crayfish of the genus Euastacus. I. Testing vicariance and dispersal with interspecific mitochondrial DNA. | The upland mesic rainforests of eastern Australia have been described as a "mesothermal archipelago" where a chain of cool mountain "islands" arise from a warm "sea" of tropical and subtropical lowlands. An endemic freshwater crayfish belonging to the genus Euastacus is found on each of these mountain "islands." The Eu... |
2,339,661 | Testing hypotheses about tinkering in the fossil record: the case of the human skull. | Efforts to test hypotheses about small-scale shifts in development (tinkering) that can only be observed in the fossil record pose many challenges. Here we use the origin of modern human craniofacial form to explore a series of analytical steps with which to propose and test evolutionary developmental hypotheses about ... |
2,339,662 | Elevated catecholamine metabolites in patients with Costello syndrome. | Costello syndrome is a rare congenital anomaly syndrome with a predisposition to specific tumors, including neuroblastoma, rhabdomyosarcoma, and transitional cell carcinoma of the bladder. The increased risk for solid tumors led to the proposal of a tumor screening protocol. A screening test for neuroblastoma consists ... |
2,339,663 | Statistical confirmation of negative results of association studies in genetic epidemiology. | One of the most important reasons warranting the common reservation about publishing association studies with negative results is due to the fundamental fact that an insignificant result of a statistical testing procedure tailored for establishing an association, fails to provide conclusive evidence of the contrary. In... |
2,339,664 | DRD2 -141C insertion/deletion polymorphism is not associated with schizophrenia: results of a meta-analysis. | The gene DRD2, which codes for dopamine receptor D2, has been considered a prime candidate for allelic association testing with schizophrenia based on the strong evidence for involvement of this protein in disease pathophysiology. Recent meta-analyses confirmed a small but reliable association between schizophrenia and... |
2,339,665 | Human leukocyte antigens as genetic markers in Greek patients with sporadic pancreatic cancer. | In this study we investigated the relationship between specific HLA antigens and sporadic pancreatic cancer in Greek population.</AbstractText>The allele frequencies of serologically and molecular defined class I and II HLA antigens were studied in 60 unrelated patients with pancreatic cancer histologically confirmed. ... |
2,339,666 | Contribution of apolipoprotein E and cathepsin D genotypes to the familial aggregation of Alzheimer's disease. | The familial aggregation of late-onset Alzheimer's disease (AD) might be caused by the clustering of genetic risk factors in families. This study investigates the influence of variants of candidate genes on the familial aggregation of AD.</AbstractText>The occurrence of AD was examined in 1,420 first-degree relatives o... |
2,339,667 | Association of estrogen receptor alpha gene polymorphisms with neurofibrillary tangles. | Estrogen receptor alpha (ERalpha) may be implicated in the pathogenesis of Alzheimer's disease (AD). The aim of this study was to clarify the association between ERalpha gene polymorphisms and AD-related pathologic changes. The staging of neurofibrillary tangles (NFT) and senile plaques (SP) was performed according to ... |
2,339,668 | Association between cathepsin D polymorphism and Alzheimer's disease in a Chinese Han population. | Cathepsin D (CTSD) is an intracellular aspartyl protease, which is active in the endosomal/lysosomal system. CTSD may play a role in Alzheimer's disease (AD) through cleaving the amyloid precursor protein into beta-amyloid peptide and degrading tau protein into fragments. A functional polymorphism in exon 2 of the cath... |
2,339,669 | Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders. | With the exception of Huntington disease, the psychological and psychosocial impact of DNA testing for neurogenetic disorders has not been well studied.</AbstractText>To evaluate the psychosocial impact of genetic testing for autosomal dominant forms of hereditary ataxia and neuromuscular disorders. Patients Fifty subj... |
2,339,670 | Psychological responses to prenatal NTS counseling and the uptake of invasive testing in women of advanced maternal age. | This study examines women's psychological responses to prenatal group genetic counseling, and to subsequent individualized risk counseling. All women (N=123) aged 35 and older underwent nuchal translucency screening (NTS), a prenatal ultrasound screening test. After group counseling, decisional conflict decreased signi... |
2,339,671 | Is human Type 2 diabetes maternally inherited? Insights from an animal model. | Patients with Type 2 diabetes mellitus more often report a history of an affected mother than father. However, in the few studies where both parents and offspring have been directly tested, this apparent maternal excess has not been confirmed. Rodent models of diabetes have the advantage that all parents and offspring ... |
2,339,672 | Plasma cell membrane glycoprotein 1 (PC-1): a marker of insulin resistance in obesity, uremia and diabetes mellitus. | Insulin resistance is a characteristic feature of obesity and type 2 diabetes mellitus, but it is also present in up to 25% of healthy nonobese individuals. The molecular mechanisms causing insulin resistance are not yet fully understood. Recently, overexpression of several potential inhibitors of the insulin receptor ... |
2,339,673 | Genetic variation and exposure related risk estimation: will toxicology enter a new era? DNA repair and cancer as a paradigm. | With the vast technological and informational resources increasingly available from investments in "genomics," toxicology and much of biological science, is faced with previously undreamed of opportunities and equally daunting challenges. The ability to generate the large quantities of data becoming routinely available... |
2,339,674 | Application of gene expression profiling for validating models of human breast cancer. | While classical histopathologic approaches are invaluable in classifying tumors and understanding aspects of cellular interactions, genomic approaches provide a means to molecularly dissect tumorigenesis. The relationship of gene expression to the development of neoplasia remains an area of intensive research. With the... |
2,339,675 | Trials, tribulations, and trends in tumor modeling in mice. | Selection of mouse models of cancer is often based simply on availability of a mouse strain and a known compatible tumor. Frequently this results in use of tumor models long on history but short on homology and quality control. Other factors including genetics, sex, immunological status, method and site of tumor implan... |
2,339,676 | Implementation of DNA chips obtained by microprojection for diagnostic and personalized medicine. | It is expected that rapidly emergent new fields of application for DNA chips will be Diagnostic and Personalized Medicine. These new applications will require a limited number of probes, generally from 100 to 1000. So, after a brief review of the existing techniques to manufacture DNA chips, which are efficient for R&a... |
2,339,677 | Improving population health or the population itself? Health technology assessment and our genetic future. | The province of British Columbia (BC), Canada is developing its first population-wide prenatal genetic screening program, known as triple-marker screening (TMS). TMS, initiated with a simple blood test, is most commonly used to screen for fetuses with the chromosomal abnormality known as Down syndrome or neural tube di... |
2,339,678 | Topology and robustness in the Drosophila segment polarity network. | A complex hierarchy of genetic interactions converts a single-celled Drosophila melanogaster egg into a multicellular embryo with 14 segments. Previously, von Dassow et al. reported that a mathematical model of the genetic interactions that defined the polarity of segments (the segment polarity network) was robust (von... |
2,339,679 | Assessing and managing breast cancer risk: clinical tools for advising patients. | Using breast cancer risk assessment tools and going through the process of assessing breast cancer risk can answer many women's questions about what puts them at relatively higher or lower risk. This effectively engages both the clinician and the patient in a discussion about breast cancer, the chances of getting it, a... |
2,339,680 | Arabidopsis to rice. Applying knowledge from a weed to enhance our understanding of a crop species. | Although Arabidopsis is well established as the premiere model species in plant biology, rice (Oryza sativa) is moving up fast as the second-best model organism. In addition to the availability of large sets of genetic, molecular, and genomic resources, two features make rice attractive as a model species: it represent... |
2,339,681 | The involvement of sequence variation and expression of CX3CR1 in the pathogenesis of age-related macular degeneration. | This study examined the association between the sequence variation/expression of CX3CR1, a chemokine receptor, and age-related macular degeneration (AMD). Peripheral blood from 85 AMD patients and 105 subjects without AMD (controls), as well as ocular tissue from 40 pathological sections with AMD and two normal eye sec... |
2,339,682 | Mutagenesis and reconstitution of middle-to-long-wave-sensitive visual pigments of New World monkeys for testing the tuning effect of residues at sites 229 and 233. | The colour vision polymorphism of New World monkeys results from allelic variations of the middle-to-long-wave-sensitive (M/LWS) visual pigments. On the basis of sequence comparison, spectral differences among the alleles have been ascribed to amino acid residues at sites 180, 229, 233, 277, and 285. While the signific... |
2,339,683 | Genetic testing in neuromuscular disease. | With the completion of the human genome, the availability of genetic testing is becoming widespread at a rapid pace. Testing for rare neurologic conditions often is possible. With the availability of this testing, it becomes necessary for the physician to be able to determine the potential benefits of testing and when ... |
2,339,684 | Analysis of the polymorphisms in eotaxin gene family and their association with asthma, IgE, and eosinophil. | The eotaxin gene family (eotaxin, eotaxin-2, and eotaxin-3) has been implicated in the recruitment of eosinophils, basophiles, and Th2 lymphocytes that is a central aspect of allergic diseases such as asthma. To determine whether the single nucleotide polymorphisms (SNPs) of eotaxin gene family are associated with susc... |
2,339,685 | The microtubule plus end tracking protein Orbit/MAST/CLASP acts downstream of the tyrosine kinase Abl in mediating axon guidance. | Axon guidance requires coordinated remodeling of actin and microtubule polymers. Using a genetic screen, we identified the microtubule-associated protein Orbit/MAST as a partner of the Abelson (Abl) tyrosine kinase. We find identical axon guidance phenotypes in orbit/MAST and Abl mutants at the midline, where the repel... |
2,339,686 | [Development of a new inspection diagnostic method: genetic screening of cancer]. | Wilms' tumor gene WT1 mRNA is a new marker of leukemic blast cells for AML, ALL, and CML. The minimal residual disease(MRD) of leukemia can be detected at frequencies as low as 1 in 10(3) to 10(4) normal bone marrow cells and 1 in 10(5) normal peripheral blood mononuclear cells by means of the quantitation of WT1 mRNA ... |
2,339,687 | Prevalence of antibiotic resistance in anaerobic bacteria: worrisome developments. | Antibiotic-resistant anaerobic bacteria have become increasingly recognized as a confounding factor in the selection of therapeutic agents. The use of potent, broad-spectrum antibiotics as empirical therapy, along with appropriate adjunctive measures, has, in some ways, masked the magnitude of the antibiotic resistance... |
2,339,688 | A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes. | We describe a Cypriot family in which some family members presented with episodes of pressure palsies, while other family members had a slowly progressive chronic polyneuropathy typical of the Charcot-Marie-Tooth type 1 phenotype. All family members were evaluated clinically, with nerve conduction studies, and with gen... |
2,339,689 | Recent progress in predictive biomarkers for metastatic recurrence of human hepatocellular carcinoma: a review of the literature. | Molecular markers (biomarkers) for hepatocellular carcinoma (HCC) metastasis and recurrence could provide additional information to that gained from traditional histopathological features. A large number of biomarkers have been shown to have potential predictive significance. One important aspect of this is to detect t... |
2,339,690 | Criteria influencing the clinical uptake of pharmacogenomic strategies. | Pharmacogenomics and related genomic technologies may hold the potential to improve efficacy and safety in prescription, but complex factors affect their clinical success |
2,339,691 | Physical performance testing in mucopolysaccharidosis I: a pilot study. | To develop and field-test a physical performance measure (MPS-PPM) for individuals with Mucopolysaccharidosis I (MPS I), a rare genetic disorder.</AbstractText>Motor performance and endurance items were developed based on literature review, clinician feedback, feasibility, and equipment and training needs. A standardiz... |
2,339,692 | Discriminate biopower and everyday biopolitics: views on sickle cell testing in Dakar. | Many physicians in Senegal and France, where most Senegalese sickle cell specialists are partially trained, assume that genetic testing that could imply selective abortion for people with sickle cell would run counter to the religious and cultural ethics of people living in Dakar. Senegalese affected by this genetic di... |
2,339,693 | Rapid detection of mutations in Wilson disease gene ATP7B by DNA strip technology. | Wilson disease leads to severe hepatic and neurological pathology resulting from cellular copper overload in the respective tissue. Although the affected gene, ATP7B, has been identified, genetic testing is challenging, time-consuming and expensive. Here we describe the development and use of a novel diagnostic test fo... |
2,339,694 | Genetic assays for triplet repeat instability in yeast. | The unusual genetic features of trinucleotide repeat (TNR) diseases have stimulated a substantial body of research into the underlying molecular mechanisms of repeat instability. As one useful tool to study TNR instability, selectable genetic assays for expansions and contractions were developed in the yeast Saccharomy... |
2,339,695 | Mouse models of triplet repeat diseases. | Since their discovery in 1991, triplet repeat mutations have been found to be the cause of genomic fragile sites, two of which are linked to mental retardation, myotonic dystrophy, and several late-onset neurodegenerative diseases. In all cases, these mutations exhibit gametic and/or somatic instability once they have ... |
2,339,696 | [Clinical features and hMSH2/hMLH1 germline mutation screening of Chinese hereditary nonpolyposis colorectal cancer patients]. | To analyze the clinical features of hereditary nonpolyposis colorectal cancer (HNPCC) among Chinese and report the results of screening of hMSH2 and hMLH1 gene mutations.</AbstractText>The data concerning sex, site of colorectal cancer (CRC), age of diagnosis, history of synchronous and/or metachronous colorectal cance... |
2,339,697 | Transgenic nonhuman primates for neurodegenerative diseases. | Animal models that represent human diseases constitute an important tool in understanding the pathogenesis of the diseases, and in developing effective therapies. Neurodegenerative diseases are complex disorders involving neuropathologic and psychiatric alterations. Although transgenic and knock-in mouse models of Alzh... |
2,339,698 | New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene. | Due to the poor prognosis of severe autosomal recessive polycystic kidney disease (ARPKD), there is a strong demand for prenatal diagnosis (PD). Reliable PD testing is possible by molecular genetic analysis only. Although haplotype-based analysis is feasible in most cases, it is associated with a risk of misdiagnosis i... |
2,339,699 | A novel transgenic mouse model for immunological evaluation of carcinoembryonic antigen-based DNA minigene vaccines. | A lack of relevant animal models has hampered preclinical screening and critical evaluation of the efficacy of human vaccines in vivo. Carcinoembryonic antigen-A2Kb (CEA-A2Kb) double transgenic mice provide a biologically relevant model for preclinical screening and critical evaluation of human CEA vaccine efficacy in ... |
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