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24 Newest Publications of de Gruyter

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Genetic interactions with mutations affecting septin assembly reveal ESCRT functions in budding yeast cytokinesis

09-08-2011 | reference-global@degruyter.com (Michael A. McMurray et al), Biological Chemistry, 2011

Biological Chemistry, Volume 392, Issue 8-9, Page 699-712, August 2011.

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Genotyping of the hemochromatosis HFE p.H63D and p.C282Y mutations by high-resolution melting with the Rotor-Gene 6000® instrument

17-06-2011 | Paulo Caleb Junior Lima Santos; Renata Alonso Gadi Soares; Jose Eduardo Krieger; Elvira Maria Guerra-Shinohara; ..., Clinical Chemistry , 2011

Abstract Background: The genotyping of HFE p.C282Y and p.H63D mutations is one of the most requested molecular analyses in the laboratorial routine. In this scenario, the main aim was to develop a genotyping assay that has advantages compared to other methods. Methods: Genotypes for the HFE ...

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High resolution melting analysis to genotype the most common variants in the HFE gene

01-06-2011 | Roberta V. Marotta; Olivia Turri; Antonella Morandi; Manuela Murano; Gianlodovico Melzi d’Eril; Maria Lui ..., Clinical Chemistry , 2011

Abstract Background: High resolution melting (HRM) analysis of PCR amplicons was recently introduced as a closed-tube, rapid, and inexpensive method of genotyping. This study evaluated this system as an option for detecting the three most common mutations in the HFE gene (C282Y, H63D, S65C), ...

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A template for mutational data analysis of the CFTR gene

31-05-2011 | Giampiero Ferraguti; Silvia Pierandrei; Sabina Maria Bruno; Fabrizio Ceci; Roberto Strom; Marco Lucarelli, Clinical Chemistry , 2011

Abstract Background: Automated DNA sequencing produces large amounts of data that need to be analyzed by appropriate software. Personalization of software can be a difficult and time-consuming task, especially if a large number of mutations have to be analyzed. Methods: The Applied BioSystems ...

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A novel liquidchip platform for simultaneous detection of 70 alleles of DNA somatic mutations on EGFR, KRAS, BRAF and PIK3CA from formalin-fixed and paraffin-embedded slides containing tumor tissue

22-02-2011 | Guoqiang Li; Xiaodi Luo; Jiaying He; Zeyao Zhu; Gang Yu; Huijuan Qin; Tao Zeng; Zhiming Liu; Shiyang Wu; Ji ..., Clinical Chemistry , 2011

Abstract Background: DNA somatic mutations of EGFR, KRAS, BRAF and PIK3CA in the epidermal growth factor receptor (EGFR) signaling pathway play critical roles in the response or resistance of tumors to targeted therapy with tyrosine kinase inhibitors (EGFR-TKIs). To provide a high-throughput ...

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Review: Genetic basis of thrombosis

26-01-2011 | Valeria Bafunno; Maurizio Margaglione, Clinical Chemistry , 2011

Abstract Venous thrombosis (VT) represents a common and serious disorder that occurs as the result of clotting of the blood in the venous system and venous obstruction. Environmental risk factors and genetic predisposition play an important role in the development of thrombosis. It is therefore ...

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Protein C and protein S deficiencies: similarities and differences between two brothers playing in the same game

26-01-2011 | Zsuzsanna Bereczky; Kitti B. Kovács; László Muszbek, Clinical Chemistry , 2011

Abstract Protein C (PC) and protein S (PS) are vitamin K-dependent glycoproteins that play an important role in the regulation of blood coagulation as natural anticoagulants. PC is activated by thrombin and the resulting activated PC (APC) inactivates membrane-bound activated factor VIII and ...

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Review: Factor V Leiden and FII 20210 testing in thromboembolic disorders

26-01-2011 | Tadej Pajič, Clinical Chemistry , 2011

Abstract Factor V Leiden and prothrombin (F2) c.20210G>A mutation detection are very important in order to define the increased relative risk for venous thromboembolism in selected patients. Use of DNA-based methods to detect both mutations has become widely available in clinical diagnostic ...

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Multiplex analysis of mitochondrial DNA pathogenic and polymorphic sequence variants

28-10-2010 | Jason C. Poole; Vincent Procaccio; Martin C. Brandon; Greg Merrick; Douglas C. Wallace, Biological Chemistry, 2010

Abstract The mitochondrial DNA (mtDNA) encompasses two classes of functionally important sequence variants: recent pathogenic mutations and ancient adaptive polymorphisms. To rapidly and cheaply evaluate both classes of single nucleotide variants (SNVs), we have developed an integrated system in ...

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DNA sequencing errors in molecular diagnostics of filamin myopathy

18-10-2010 | Zagaa Odgerel; Peter F.M. van der Ven; Dieter O. Fürst; Lev G. Goldfarb, Clinical Chemistry , 2010

Abstract Background: Filamin myopathy is a neuromuscular disorder manifesting with predominantly limb-girdle muscle weakness and in many patients with diaphragm paralysis and cardiomyopathy, caused by mutations in the filamin C (FLNC) gene. Molecular diagnosis of filamin myopathy based on direct ...

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