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Tomoko Shiino, Takayoshi Koide, Itaru Kushima, Masashi Ikeda, Shohko Kunimoto, Yukako Nakamura, Akira Yoshimi, Branko Aleksic, Masahiro Banno, Tsutomu Kikuchi, Kunihiro Kohmura, Yasunori Adachi, Naoko Kawano, Takashi Okada, Toshiya Inada, Hiroshi Ujike, Tetsuya Iidaka, Michio Suzuki, Nakao Iwata and Norio Ozaki

Summary

Background:Schizophrenia is a relatively common disorder, with a lifetime prevalence of about 1%. Family history is the most important risk factor for schizophrenia, consistent with a genetic contribution to its etiology. Recent human genetic studies reported that some common variants located within BCL9 are associated with schizophrenia in the Chinese population, but not associated with bipolar disorder in the Caucasian population.

Methods: Single nucleotide variant (SNP) prioritization sample was comprised of 575 patients with schizophrenia and 564 healthy controls with no personal or family history of psychiatric illness. For SNP association analysis, we used an independent Japanese sample set (replication sample) comprising 1464 cases and 1171 controls. For the analysis of cognitive performance, we investigated 115 cases and 87 controls using Continuous Performance Test (CPT-IP) and the Wisconsin Card Sorting Test Keio version (WCST). Meta-selectanalysis was performed using a combined Japanese total sample (N=3735) and a Chinese sample from a previous study.

Results: In the replication sample set, we did not detect any association in 2 SNPs (rs672607 and rs10494252) and schizophrenia. Meta-analysis of rs672607 showed significant association (p-value 0.012, odds ratio 0.855). There was a significant (p<0.01) difference between the A/A and G carrier group of rs672607 in CPT mean d’ (p=0.0092).

Conclusions: We were able to detect evidence for an association between rs672607 in BCL9 and schizophrenia in the meta-analysis of Japanese and Chinese populations. Additionally, this common variant may affect cognitive performance, as measured by the CPT-IP in schizophrenia patients.

Open access

Gian Luca Salvagno, Davide Giavarina, Moira Meneghello, Roberta Musa, Rosalia Aloe, Giorgio Da Rin and Giuseppe Lippi

: Myth and magic or a practical way forward? J Med Biochem 2010; 29: 270-3. 7. Lippi G, Cervellin G, Aloe R, Montagnana M, Salvagno GL, Guidi GC. Non-commutability of results of highly sensitive troponin I and T immunoassays. Biochem Med (Zagreb) 2012; 22: 127-9. 8. Lippi G, Cervellin G. Choosing troponin immunoassays in a world of limited resources. J Am Coll Cardiol 2013; 62: 647-8. 9. Apple FS. Counterpoint: Standardization of cardiac troponin I assays will not occur in my lifetime. Clin Chem 2012; 58: 169

Open access

Irina Juhas, Branko Skof, Dejana Popović, Milan Matić and Nenad Janković

Introduction Hypercholesterolemia is an important risk factor for the development of atherosclerosis, ischemic heart disease and stroke ( 1 , 2 ). According to the American Heart Association, 54% of adult Europeans aged > 25 suffer from increased cholesterol levels higher than 5.17 mmol/L ( 3 ). Decreasing of Low-Density Lipoprotein (LDL) levels over a lifetime for 1 mmol/L is associated with a 55 % lower risk for cardiovascular diseases ( 4 ). Among different forms of physical activity, the authors have highlighted the importance of aerobic exercise

Open access

Michael F. Holick

-Endocrinol 2011; 3(4): 1-8. 73. Kennedy C, Bajdik CD, Willemze R, de Gruijl FR, Bavinck JN. The influence of painful sunburns and lifetime of sun exposure on the risk of actinic keratoses, seborrheic warts, melanocytic nevi, atypical nevi and skin cancer. J Invest Dermatol 2003; 120(6): 1087-93.

Open access

Małgorzata Popis

Disord. 2012;27(1):8-30; DOI:10.1002/mds.23795. 6. Driver J, Logroscino G, Gaziano J, Kurth T. Incidence and remaining lifetime risk of Parkinson disease in advanced age. Neurology. 2009;72(5):432-8; DOI:10.1212/01.wnl.0000341769.50075.bb. 7. Bentea E, Verbruggen L, Massie A. The Proteasome Inhibition Model of Parkinson’s Disease. J Parkinsons Dis. 2017;7(1):31-63; DOI:10.3233/JPD-160921. 8. Surmeier D. Determinants of dopaminergic neuron loss in Parkinson’s disease. FEBS J. 2018;285(19):3657-3668; DOI:10.1111/febs.14607. 9. Chung K, Dawson V

Open access

Lucian Negura and Anca Negura

Abstract

Both incidence and mortality of colorectal cancer (CRC) in Romania have shown a continuous increase during the last decades. Hereditary Non-Polyposic Colorectal Cancer (HNPCC), also known as Lynch syndrome, is mainly attributable to mismatch repair (MMR) genes MSH2, MSH6, and MLH1. Individuals carrying germ-line mutations of these genes present high lifetime risk of colorectal and other cancers, compared to non-carriers. Oncogenetics is developed worldwide nowadays, for identifying hereditary predisposition to cancer and offering appropriate clinical follow-up to patients and mutation carriers in Lynch families. Molecular oncogenetic diagnosis in Lynch syndrome is based on complete Sanger sequencing of entire MMR genes, which is time and resources consuming, therefore needing an appropriate and adapted optimization. Conventional sequencing requires a sufficient number of available samples to be processed simultaneously, which increases the waiting time for diagnostic results. Complete analysis for only one patient meets difficult technical problems due to the complex co-amplification of all gene regions of interest within the same conditions, therefore increasing the costs and reducing the cost-effectiveness of the test. Here we present an original and robust technical protocol for sequencing the entire MSH2, MSH6, and MLH1 coding sequence for one patient in a single PCR plate. Our optimized and verified system overcomes all technical problems and offers a quick, robust, and cost-effective possibility to personalize molecular oncogenetic diagnosis in Lynch syndrome.

Open access

V. Doničová, A. Lukačínová, R. Beňačka and F. Ništiar

. Toxicol. Oncol. , 33 (3), 183—194. DOI: 10.1615/JEnvironPatholToxicolOncol.2014011075. 18. Lukacinova, A., Benacka, R., Sedlakova, E., Lovasova, E., Nistiar, F., 2012: Multigenerational lifetime low-dose exposure to heavy metals on selected reproductive parameters in rats. J. Environ. Sci. Health A Tox. Hazard Subst. Environ. Eng. , 47 (9), 1280—1287. DOI: 10.1080/10934529.2012.672132. 19. Lukačínová, A., Rácz, O., Lovásová, E., Ništiar, F., 2011: Effect of lifetime low dose exposure to heavy metals on selected serum proteins of Wistar rats during three

Open access

Paulina Kobak and Bogumiła Pilarczyk

-462. 13. Hilgenstock F., Hamann H., Rosenberge E., Götz K.U., Distl O.: Analysis of health traits in different lifetime classes in stationary progeny tested German Fleckvieh bulls. Arch Tierz 2006, 49 , 222-223. 14. Iqbal M.U., Sajid M.S., Hussain A., Khan M.K.: Prevalence of helminth infections in dairy animals of nestle milk collection areas of Punjab (Pakistan). Ital Anim Sci 2007, 6 , 935-938. 15. Jiang S.X., Bayón J.E., Ferre I., Mao X.Z., González- Gallego J.: Effect of experimental fascioliasis on antipyrine metabolism and

Open access

Roberto Tocci, Clara Sargentini, Andrea Martini, Luisa Andrenelli, Antonio Pezzati, Doria Benvenuti and Alessandro Giorgetti

A.: Differentiation between fore and hind hoof dimensions in the horse (Equus caballus). Arch Tierz 2008, 51, 531-540. 27. Stachurska A., Walkuska G., Cebera M., Jaworski Z., Chalabis- Mazurek A.: Heavy metal status of Polish Konik horses from stable-pasture and outdoor maintenance systems in the Masurian environment. J Elementol 2011, 16, 623-633. 28. Strasser H.: A lifetime of soundness, Ed & Trans. Sabine Kell, Qualicum Beach BC, Canada 2000. 29. Tocci R., Sargentini C., Benedettini A., Benvenuti D., Pezzati A

Open access

Margit Șerban, Dan Poenaru, Laura Cernat, Delia Savescu, Jenel Pătrașcu, Wolfgang Schramm, Emilia Ursu, Delia Mihailov, Cristian Jinca, Ioana Ioniță and Smaranda Arghirescu

/3 multicenter clinical trial in severe hemophilia A. Blood. 2016; 128 (5): 630-637. DOI: 10.1182/blood-2016-01-687434 16. Sorensen B, Ingerslev J. Tailoring haemostatic treatment to patient requirements - an update on monitoring haemostatic response using thrombelastography. Haemophilia. 2005; 11 (1):1-6. DOI: 10.1111/j.1365-2516.2005.01156.x 17. Négrier C, Gomperts ED, Oldenburg J. The history of FEIBA: a lifetime of success in the treatment of haemophilia complicated by an inhibitor. Haemophilia. 2006;12:4-13. DOI: 10.1111/j.1365