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Relevant bibliographies by topics / Functional test to prove mutation causality

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Academic literature on the topic 'Functional test to prove mutation causality'

Author: Grafiati

Published: 4 June 2021

Last updated: 1 February 2022

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Journal articles on the topic "Functional test to prove mutation causality"

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Markman, T., C. C. Liu, J. H. Chien, N. E. Crone, J. Zhang, and F. A. Lenz. "EEG analysis reveals widespread directed functional interactions related to a painful cutaneous laser stimulus." Journal of Neurophysiology 110, no. 10 (2013): 2440–49. http://dx.doi.org/10.1152/jn.00246.2013.

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During attention to a painful cutaneous laser stimulus, event-related causality (ERC) has been detected in recordings from subdural electrodes implanted directly over cortical modules for the treatment of epilepsy. However, these studies afforded limited sampling of modules and did not examine interactions with a nonpainful stimulus as a control. We now sample scalp EEG to test the hypothesis that attention to the laser stimulus is associated with poststimulus ERC interactions that are different from those with attention to a nonpainful stimulus. Subjects attended to (counted) either a painful

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Cernea, S., and K. Wells. "326 CONSTRUCTION OF A SPLICING-DEPENDENT SELECTABLE MARKER FOR GENE TARGETTING." Reproduction, Fertility and Development 23, no. 1 (2011): 259. http://dx.doi.org/10.1071/rdv23n1ab326.

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Gene targeting in mammalian cells plays a crucial role in biotechnology. These experiments are characterised by low rates of homologous recombination and high rates of random integration. Therefore, many fibroblast colonies must be screened to identify a targeting event. To dramatically reduce the survival of random integration events, we have developed a splicing-dependent selectable marker strategy by introducing a mutation in a codon-optimized G418 resistance gene (mNeo). This mutation could be corrected upon homologous recombination. Since the C-terminal region of aminoglycoside phosphotra

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Bally, Cécile, Aline Renneville, Lionel Adès, et al. "Detection of TP53 Mutations in Myelodysplastic Syndromes (MDS) and Acute Myeloid Leukemia (AML). a Comparison Between a Functional Method (FASAY) and Next Generation Sequencing (NGS)." Blood 124, no. 21 (2014): 3266. http://dx.doi.org/10.1182/blood.v124.21.3266.3266.

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Abstract Background TP53 mutations inactivating p53 protein, often associated with loss of the remaining TP53 allele through 17p deletion, are major prognostic factors in many hematological malignancies, including CLL, myeloma, AML and MDS. In AML and MDS, they are usually associated with complex karyotype (including del 17p) and very poor prognosis (Blood 1991, 78(7):1652-7 , Bejar, NEJM 2011), including after allogeneic SCT (Middeke JM, Blood 2014) but they are also seen in lower risk MDS with isolated del 5q, where they confer resistance to Lenalidomide (Jadersten, JCO 2011). The advent of

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Befekadu, Elizabeth, Thaslim Ahamed Kassim, Zuhair Ghanem, and Anita Aggarwal. "Bilateral Cerebellar Infarcts in a Patient with Type II Protein S Deficiency and Crohn's Disease: Case Report." Blood 114, no. 22 (2009): 5067. http://dx.doi.org/10.1182/blood.v114.22.5067.5067.

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Abstract Abstract 5067 Background Protein S deficiency as a risk factor for arterial thrombosis is still debatable. We report a young adult male with known protein S deficiency who presented with stroke. Case report A 39 -year-old African American male with history of Crohn's disease in remission and recurrent deep venous thrombosis (DVT) diagnosed 3 years ago presented with unsteady gait and vertigo. Neurological exam revealed dysmetria, dysdiadochokinesia, and ataxic gait. His International Normalized Ratio (INR) on admission was 1.2 while he was on warfarin. Magnetic Resonance Imaging (MRI)

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Friedman, Jeff S. "Mitochondria and Hematologic Disorders." Blood 114, no. 22 (2009): SCI—3—SCI—3. http://dx.doi.org/10.1182/blood.v114.22.sci-3.sci-3.

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Abstract Abstract SCI-3 Mitochondria have a special relationship with the erythroid lineage. Although RBC are devoid of mitochondria, during RBC development the mitochondria is the site of multiple steps in heme biosynthesis, and is essential for proper utilization of iron. As evidence of this special relationship, multiple mutations in both mitochondrial DNA (hereditary and acquired) and in nuclear genes encoding mitochondrial localized proteins (hereditary) result in sideroblastic anemia—where the hallmark pathologic lesion is intramitochondrial iron accumulation in erythroid progenitors. Th

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Tenedini, Elena, Isabella Bernardis, Valentina Artusi, et al. "Targeted Cancer Exome Sequencing Discovers Novel Recurrent Mutations In MPN." Blood 122, no. 21 (2013): 4099. http://dx.doi.org/10.1182/blood.v122.21.4099.4099.

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Abstract The discovery of the JAK2V617F mutation in 2005 [Kralovics R, N Engl J Med 2005] represented a major breakthrough in the understanding of the molecular pathogenesis of Philadelphia chromosome negative chronic myeloproliferative neoplasms (MPN). Nevertheless several observations suggest that the JAK2V617F mutation may not be the disease funding mutation, at least in most instances. Therefore, a great deal of effort is ongoing with the aim to identifying novel genetic lesions contributing to the disease pathogenesis. The two major theoretical and technical drawbacks to the identificatio

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Wermke, Martin, Aylin Camgoz, Maciej Paszkowski-Rogacz, et al. "A Genome Wide shRNA Screen In Primary Human AML Cells Identifies ROCK1 As a Novel Therapeutic Target." Blood 122, no. 21 (2013): 170. http://dx.doi.org/10.1182/blood.v122.21.170.170.

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Abstract In spite of recent advances, the prognosis especially of elderly AML patients remains unsatisfactory with survival rates of less than 10 % at 10 years. Genome-wide RNA-interference screens systematically interrogating the specific vulnerabilities of leukemic cells could be a valuable tool to identify novel therapeutic targets in this patient population. So far, such screens have only been done in immortalized cell lines and / or at sub-genome scale, which limits their transferability to individual patients. Therefore, we set out to establish an unbiased genome-wide pooled shRNA screen

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Dissertations / Theses on the topic "Functional test to prove mutation causality"

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Martin, Pauline. "Identification et caractérisation fonctionnelle de régions du génome associées à des caractères d'intérêt pour la filière caprine." Thesis, Toulouse 3, 2016. http://www.theses.fr/2016TOU30129/document.

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Un important dispositif de détection de QTL caprin laitier basé sur 2 254 chèvres génotypées sur puce SNP 50K et issues de 20 mâles d'IA séquencés a été mis en place. Des QTL avaient déjà été détectés pour de nombreux caractères laitiers ou de morphologie. Un certain nombre de caractères restait néanmoins à étudier ou à approfondir. Dans un premier temps, une analyse de type GWAS a été réalisée sur cinq caractères. Pour deux d'entre eux, les trayons surnuméraires et le débit de traite, nos résultats sont en faveur d'un déterminisme polygénique. Pour deux phénotypes de coloration indésirables e

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Conference papers on the topic "Functional test to prove mutation causality"

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Pannekok, H., A. J. Van Zonneveid, C. J. M. de vries, M. E. MacDonald, H. Veerman, and F. Blasi. "FUNCTIONAL PROPERTIES OF DELETION-MUTANTS OF TISSUE-TYPE PLASMINOGEN ACTIVATOR." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643724.

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Over the past twenty-five years, genetic methods have generated a wealth of information on the regulation and the structure-function relationship of bacterial genes.These methods are based on the introduction of random mutations in a gene to alter its function. Subsequently, genetic techniques cure applied to localize the mutation, while the nature of the impairedfunction could be determined using biochemical methods. Classic examples of this approach is now considered to be the elucidation of the structure and function of genes, constituting the Escherichia coli lactose (lac) and tryptophan (

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