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Relevant bibliographies by topics / Deletion 17p

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Academic literature on the topic 'Deletion 17p'

Author: Grafiati

Published: 4 June 2021

Last updated: 2 February 2022

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Journal articles on the topic "Deletion 17p"

1

Zenz, Thorsten, Alexander Kröber, Katrin Scherer, et al. "Monoallelic TP53 inactivation is associated with poor prognosis in chronic lymphocytic leukemia: results from a detailed genetic characterization with long-term follow-up." Blood 112, no. 8 (2008): 3322–29. http://dx.doi.org/10.1182/blood-2008-04-154070.

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AbstractThe exact prognostic role of TP53 mutations (without 17p deletion) and any impact of the deletion without TP53 mutation in CLL are unclear. We studied 126 well-characterized CLL patients by direct sequencing and DHPLC to detect TP53 mutations (exons 2-11). Most patients with 17p deletions also had TP53 mutations (81%). Mutations in the absence of 17p deletions were found in 4.5%. We found a shorter survival for patients with TP53 mutation (n = 18; P = .002), which was more pronounced when analyzed from the time point of mutation detection (6.8 vs 69 months, P < .001). The survival w

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Zenz, Thorsten, Antonio Sarno, Sonja Häbe, et al. "17p Deletion in CLL: Detailed Analysis of TP53 Mutations, Alternative Mechanisms of p53 Inactivation, Clone Size and Clonal Evolution." Blood 112, no. 11 (2008): 782. http://dx.doi.org/10.1182/blood.v112.11.782.782.

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Abstract The prognosis of CLL with 17p deletion is very poor. While it is generally accepted that inactivation of p53 (by mutation) underlies refractoriness of CLL with 17p deletion, no study has analyzed a large cohort of CLL patients with 17p deletion with respect to TP53 mutations and investigated other mechanisms of p53 inactivation. In order to assess the incidence of TP53 mutations in CLL with 17p deletion we identified a large cohort of CLL cases with 17p deletion (n=217) and studied TP53 mutations in 124 of these patients. We used DHPLC to screen for TP53 mutations (Exons 2–11). Aberra

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Rudenko, Hannah C., Vasantha Brito-Babapulle, David Gonzalez, et al. "Combined aCGH and Mutational Analysis of CLL Patients with 17p Deletion." Blood 108, no. 11 (2006): 2091. http://dx.doi.org/10.1182/blood.v108.11.2091.2091.

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Abstract We have utilised aCGH (Breakthrough Breast Cancer Research Centre 5.8K array) and mutational analysis of the TP53 gene (exons 4–10) on 74 cases of CLL to define the extent of deletion at 17p, TP53 mutational status, additional genomic changes, and how this affects clinical outcome. 17p- cases were selected by FISH (n=37, Vysis LSI P53 probe) and 37 cases were selected as being representative of the survival curve of CLL patients without 17p-. FISH identified 22 cases with TP53- in ≥ 50% of cells, 4 cases with TP53- 20–50% and 11 cases with TP53- ≤ 20%. aCGH can detect abnormalities pr

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Stamatoullas, A., M. P. Callar, C. Bastard, et al. "121 Myelodysplastic syndrome and 17P deletion." Leukemia Research 21, no. 1 (1997): S31. http://dx.doi.org/10.1016/s0145-2126(97)81333-1.

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Schnaiter, Andrea, and Stephan Stilgenbauer. "17p Deletion in Chronic Lymphocytic Leukemia." Hematology/Oncology Clinics of North America 27, no. 2 (2013): 289–301. http://dx.doi.org/10.1016/j.hoc.2013.01.008.

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Ghia, Emanuela M., Laura Rassenti, and Thomas J. Kipps. "Early Events in the Clonal Evolution in Patients with Chronic Lymphocytic Leukemia Carrying TP53 Mutations and 17p Deletion." Blood 112, no. 11 (2008): 4165. http://dx.doi.org/10.1182/blood.v112.11.4165.4165.

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Abstract The leukemia cells of patients with chronic lymphocytic leukemia (CLL) may experience clonal evolution of TP53 mutations and/or deletions in the short arm of chromosome 17 (del(17p)). Such changes are associated with poor prognosis and resistance to standard chemotherapy. We evaluated for TP53 mutations and p53 protein expression before and after irradiation in leukemia cells with del(17p) of 14 patients at various times prior to therapy. The proportion of leukemia cells harboring del(17p) ranged from 3% to 99.5%, as assessed by fluorescence in situ hybridization (FISH). Four cases ha

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Zenz, Thorsten, Sonja Häbe, Tina Denzel, et al. "Detailed analysis of p53 pathway defects in fludarabine-refractory chronic lymphocytic leukemia (CLL): dissecting the contribution of 17p deletion, TP53 mutation, p53-p21 dysfunction, and miR34a in a prospective clinical trial." Blood 114, no. 13 (2009): 2589–97. http://dx.doi.org/10.1182/blood-2009-05-224071.

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Abstract The prognosis of fludarabine (F)–refractory chronic lymphocytic leukemia (CLL) is very poor, and underlying mechanisms are only partly understood. To assess the contribution of p53 abnormalities to F-refractory CLL, we studied TP53 mutations in the CLL2H trial (subcutaneous alemtuzumab; n = 99). We found TP53 mutations in 37% of patients. Twelve of 67 (18%) patients without the 17p deletion showed a TP53 mutation and 50% showed evidence of uniparental disomy. A total of 75% of cases with TP53 mutation (without 17p−) showed clonal evolution/expansion. TP53 mutations had no impact on ov

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Soenen, Valérie, Claude Preudhomme, Christophe Roumier, Agnès Daudignon, Jean Luc Laı̈, and Pierre Fenaux. "17p Deletion in Acute Myeloid Leukemia and Myelodysplastic Syndrome. Analysis of Breakpoints and Deleted Segments by Fluorescence In Situ." Blood 91, no. 3 (1998): 1008–15. http://dx.doi.org/10.1182/blood.v91.3.1008.

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Abstract Recently, we and other groups reported in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) a strong correlation between cytogenetic rearrangements leading to 17p deletion, a typical form of dysgranulopoiesis combining pseudo-Pelger-Huët hypolobulation and small vacuoles in neutrophils, and p53 mutation. To gain further insight into this “17p-syndrome,” we studied 17 cases of AML and MDS with 17p deletion by whole chromosome painting (WCP) and fluorescence in situ hybridization (FISH) with probes spanning the 17p arm, including a p53 gene probe. Cytogenetically, 15 pati

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Soenen, Valérie, Claude Preudhomme, Christophe Roumier, Agnès Daudignon, Jean Luc Laı̈, and Pierre Fenaux. "17p Deletion in Acute Myeloid Leukemia and Myelodysplastic Syndrome. Analysis of Breakpoints and Deleted Segments by Fluorescence In Situ." Blood 91, no. 3 (1998): 1008–15. http://dx.doi.org/10.1182/blood.v91.3.1008.1008_1008_1015.

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Recently, we and other groups reported in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) a strong correlation between cytogenetic rearrangements leading to 17p deletion, a typical form of dysgranulopoiesis combining pseudo-Pelger-Huët hypolobulation and small vacuoles in neutrophils, and p53 mutation. To gain further insight into this “17p-syndrome,” we studied 17 cases of AML and MDS with 17p deletion by whole chromosome painting (WCP) and fluorescence in situ hybridization (FISH) with probes spanning the 17p arm, including a p53 gene probe. Cytogenetically, 15 patients had

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Chaudhury, Ateefa, Julio C. Chavez, and Javier Pinilla-Ibarz. "Utilization of Targeted Exome Sequencing to Determine Implications of TP53 Mutation Status in Relation to 17p Deletion in Chronic Lymphocytic Leukemia (CLL)." Blood 124, no. 21 (2014): 3287. http://dx.doi.org/10.1182/blood.v124.21.3287.3287.

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Abstract Background: Advances in molecular genetics have changed the risk stratification and treatment of patients with Chronic Lymphocytic Leukemia (CLL). Previous studies have shown the worst patient outcomes associated with 17p deletion from diminished overall and progression free survival, in addition to lack of response to conventional Fludarabine based chemotherapy regimens. More recently, analyses of the role of TP53 mutation utilizing next generation sequencing (NGS) in CLL patients has shown that it may also be associated with poor prognosis and similar outcomes to those patients with

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Dissertations / Theses on the topic "Deletion 17p"

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Soenen-Cornu, Valérie. "Leucemies aigues myeloides et syndromes myelodysplasiques avec deletion 17p. Etude cytologique, cytogenetique et moleculaire." Lille 2, 2000. http://www.theses.fr/2000LIL2P261.

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Hemmer, Sina [Verfasser]. "Die Deletion von Chromosom 17q bei rezidivierenden Meningeomen / Sina Hemmer." Saarbrücken : Saarländische Universitäts- und Landesbibliothek, 2020. http://d-nb.info/1216877890/34.

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Wentzel, Christian. "Molecular and Clinical Characterization of Syndromes Associated With Intellectual Disability." Doctoral thesis, Uppsala universitet, Medicinsk genetik, 2013. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-197011.

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Intellectual disability (ID) affects approximately 1-3% of the population and is defined as having an IQ below 70 as well as a significant limitation in adaptive behavior. The implementation of chromosomal microarrays (CMA) into the field of clinical genetics has revolutionized the ability to find genetic aberrations responsible for different genetic disorders. Importantly. these technologies have allowed several new microdeletion and microduplication aberrations to be identified that otherwise would have escaped detection using more conventional methods. Finding the genetic etiology of a synd

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DAVION, CORINE. "A propos d'une observation de syndrome de smith-magenis (deletion 17 p 11. 2)." Lille 2, 1990. http://www.theses.fr/1990LIL2M005.

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Prakash, Meeta B. "Deletion of Cardiac miR-17-92 Cluster Increases Ischemia/ Reperfusion Injury via PTEN Upregulation." VCU Scholars Compass, 2017. http://scholarscompass.vcu.edu/etd/4956.

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The miR-17- 92 cluster is necessary for cell proliferation and development of the cardiovascular system. Deletion of this cluster leads to death in neonatal mice. The role of this cluster still needs to be defined following ischemia and reperfusion. Methods and Results: Adult male mice were injected with Tamoxifen- was to induce inducible cardiac-specific miR-17- 92-deficient (miR-17- 92-def: MCM:TG:miR-17- 92 flox/flox ) and wild type (WT: MCM:NTG:miR-17-92 flox/flox ) mice were subjected to 30 minutes of myocardial ischemia via left anterior descending coronary artery ligation followed by re

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Boulos, Nidal. "Influence of MYCN expression and chromosome 1p deletion on responses of neuroblastoma to chemotherapeutic drugs." Thesis, University of Newcastle Upon Tyne, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.401848.

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Shadanpour, Navid Flamiano [Verfasser], and Guido [Akademischer Betreuer] Sauter. "Prävalenz und klinische Relevanz von 17p Deletionen und nukleärer p53 Protein Akkumulation beim Nierenzellkarzinom / Navid Flamiano Shadanpour ; Betreuer: Guido Sauter." Hamburg : Staats- und Universitätsbibliothek Hamburg, 2019. http://d-nb.info/1193178002/34.

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Shadanpour, Navid Flamiano Verfasser], and Guido [Akademischer Betreuer] [Sauter. "Prävalenz und klinische Relevanz von 17p Deletionen und nukleärer p53 Protein Akkumulation beim Nierenzellkarzinom / Navid Flamiano Shadanpour ; Betreuer: Guido Sauter." Hamburg : Staats- und Universitätsbibliothek Hamburg, 2019. http://nbn-resolving.de/urn:nbn:de:gbv:18-99226.

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Dias, Camila Calixto Moreira. "Estudos de variação genômica em homens azoospérmicos e sua correlação com a expressão de microRNAs em tecido testicular." Universidade de São Paulo, 2017. http://www.teses.usp.br/teses/disponiveis/17/17135/tde-25052018-142646/.

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A infertilidade é um problema de saúde pública com um significativo impacto social, econômico e psicológico. Em todo o mundo, a incidência da infertilidade entre a população geral é estimada em 10-15%. Cerca de 50% da infertilidade dos casais são de origem masculina. Em mais da metade dos homens inférteis, a causa da infertilidade é desconhecida (idiopática). Etiologicamente, a infertilidade masculina apresenta causas genéticas e não genéticas. Dentre as causas genéticas mais conhecidas temos mutação do receptor de andrógenos, mutação do gene regulador da condutibilidade transmembrana da fibro

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Endreß, Eva [Verfasser], Arndt [Akademischer Betreuer] Hartmann, and Pompiliu [Akademischer Betreuer] Piso. "Molekularpathologische Untersuchungen an Karzinomen der Papilla Vateri: Korrelation klinisch-pathologischer Variablen mit Deletionen der Chromosomen 17p und 18q sowie der Expression von p53, SMAD4 und Maspin / Eva Endreß. Betreuer: Arndt Hartmann ; Pompiliu Piso." Regensburg : Universitätsbibliothek Regensburg, 2013. http://d-nb.info/1033216615/34.

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Books on the topic "Deletion 17p"

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Wu, David J., and Carolyn Schanen. Chromosome 15q11.2q13.3 Aneusomies and Autism Spectrum Disorders. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199744312.003.0017.

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Chapter 17 discusses Chromosome 15, which is a small, satellited acrocentric chromosome that shows remarkable structural complexity in the proximal long arm, and which leads to a host of rearrangements that have been implicated in human genetic disorders. Interpretation of potential genotype–phenotype relationships for the unique and overlapping deletions and duplications that have been identified must consider key structural and functional elements that impact the complement of genes that are ultimately misexpressed.

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Wick, Wolfgang, Colin Watts, and Minesh P. Mehta. Oligodendroglial tumours. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199651870.003.0004.

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Concepts of diagnosis and treatment of oligodendroglial tumours have changed through clinical and translational studies over recent years. Diagnosis is now based on histopathological and integrated molecular information. The latter includes mutations in isocitrate dehydrogenase and the co-deletion of 1p/19q in the tumour tissue. In parallel, the long-term evaluation of large randomized trials performed in Europe and North America led to the current standard of a more aggressive chemoradiation regimen with procarbazine, CCNU (lomustine), and vincristine to optimize progression-free and overall

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Weller, Michael, Michael Brada, Tai-Tong Wong, and Michael A. Vogelbaum. Astrocytic tumours: diffuse astrocytoma, anaplastic astrocytoma, glioblastoma, and gliomatosis cerebri. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199651870.003.0003.

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Astrocytic gliomas are primary brain tumours thought to originate from neural stem or progenitor cells. They are assigned grades II, III, or IV by the World Health Organization according to degree of malignancy as defined by histology. The following molecular markers are increasingly used for diagnostic subclassification or clinical decision-making: 1p/19q co-deletion status, O6-methylguanine-DNA methyltransferase (MGMT) promoter methylation status, and isocitrate dehydrogenase 1 and 2 mutation status. Extent of resection is a favourable prognostic factor, but surgery is never curative. Radiot

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Book chapters on the topic "Deletion 17p"

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Raj, Satish R., S. R. Wayne Chen, Robert S. Sheldon, et al. "Terminal Deletions of 18p." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_1723.

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Rathore, Saima, Ahmad Chaddad, Nadeem Haider Bukhari, and Tamim Niazi. "Imaging Signature of 1p/19q Co-deletion Status Derived via Machine Learning in Lower Grade Glioma." In Radiomics and Radiogenomics in Neuro-oncology. Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-40124-5_7.

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Bhattacharya, Debanjali, Neelam Sinha, and Jitender Saini. "Radial Cumulative Frequency Distribution: A New Imaging Signature to Detect Chromosomal Arms 1p/19q Co-deletion Status in Glioma." In Communications in Computer and Information Science. Springer Singapore, 2021. http://dx.doi.org/10.1007/978-981-16-1086-8_5.

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"Deletions." In A Comparative Typology of English and German. Routledge, 2015. http://dx.doi.org/10.4324/9781315687964-17.

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Mazzanti, Andrea, Riccardo Maragna, and Silvia G. Priori. "Monogenic and oligogenic cardiovascular diseases: genetics of arrhythmias—long QT syndrome." In ESC CardioMed. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0149_update_001.

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Long QT syndrome(s) (LQTS) includes a group of inherited arrhythmogenic disorders characterized by a prolonged cardiac repolarization that predisposes to the development of life-threatening arrhythmias, typically in conditions of adrenergic activation (exercise, emotions). LQTS can show both autosomal dominant and autosomal recessive transmission with variable penetrance. Several genes have been causally linked to the disease phenotype, all coding for ion channel proteins and their regulatory partners that control cardiac action potentials duration. To date, 17 genes have been identified. Still, the first three genotypes discovered in the early nineties (LQT1, LQT2, and LQT3) account for the large majority of mutation-positive cases (approximately 80–90%). Genotype-negative LQTS subjects still represent an area of investigation: large duplications and deletions, undetectable to standard screening methodologies and, more recently, polygenic inheritance and the role of modifiers are emerging as possible players for (apparently) genotype-negative LQTSx1. Knowing the genotype of a LQTS patient can provide a relevant contribution for the clinical management by supporting the diagnostic process, the risk stratification, and the choice of therapy.

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Conference papers on the topic "Deletion 17p"

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Breunig, Christian, Anikó Pálfi, Michael Kulke, et al. "Abstract 237: Preclinical evaluation of anti-HER2 Antibody Targeted Amanitin Conjugates (ATACs) on HER2low breast cancer with chromosome 17p deletion." In Proceedings: AACR Annual Meeting 2019; March 29-April 3, 2019; Atlanta, GA. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.am2019-237.

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Breunig, Christian, Anikó Pálfi, Michael Kulke, et al. "Abstract 237: Preclinical evaluation of anti-HER2 Antibody Targeted Amanitin Conjugates (ATACs) on HER2low breast cancer with chromosome 17p deletion." In Proceedings: AACR Annual Meeting 2019; March 29-April 3, 2019; Atlanta, GA. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.sabcs18-237.

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Liu, Jinyun, Marcia A. Ogasawara, Gang Chen, Helene Pelicano, and Peng Huang. "Abstract 3072: Characterization of TCL1-Tg:p53-/- mice that resemble human chronic lymphocytic leukemia with 17p-deletion: alterations in p53→Mir30→EZH2 axis." In Proceedings: AACR 104th Annual Meeting 2013; Apr 6-10, 2013; Washington, DC. American Association for Cancer Research, 2013. http://dx.doi.org/10.1158/1538-7445.am2013-3072.

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Foster, D., B. Schach, M. Rudisky, et al. "The Effect of Changes in the Leader Sequence of Human Protein C on Biosynthetic Processing and Gamma-Carboxylation." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643993.

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Protein C is the precursor to a serine protease in plasma which contains gamma-carboxy glutamic acid and functions as a potent anticoagulant. Protein C shows considerable structural homology with the other vitamin K-dependent coagulation factors including prothrombin, factor VII, factor IX and factor X. Sequence analysis ofthe cDNAs for these proteins has revealedthe presence of a prepro leader sequence that contains a pre sequence or hydrophobic signal sequence and a propeptide containing a number of highly conserved amino acids. The pre region is removed from thegrowing polypeptide chain by

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Foster, D., B. Schach, M. Rudinsky, et al. "The Effect of Changes in the Leader Sequence of Human Protein C on Biosynthetic Processing and Gamma-Carboxylation." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643648.

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Protein C is the precursor to a serine protease in plasma which contains gamma-carboxy glutamic acid and functions as a potent anticoagulant. Protein C shows considerable structural homology with the other vitamin K-dependent coagulation factors including prothrombin, factor VII, factor IX and factor X. This homology includes the putative pro-peptide region of the prepro leader sequences for these proteins, as well as the leader sequences for gamma-carboxylated proteins from bone. Deletion mutants have been constructed in the cDNA for human protein C in order to test the possibility that the p

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Ngo, K. Y., D. Lynch, J. Gitscher, N. Ciavarella, Z. Ruggeri, and T. Zimmerman. "HOMOZYGOUS AND HETEROZYGOUS COMPLETE DELETIONS OF THE VON WILLEBRAND FACTOR GENE CODING REGION IN SEVERE VON WILLEBRAND DISEASE AND CARRIERS." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643931.

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Severe von Willebrand disease (vWD) is characterized by undetectable levels of von Willebrand factor (vWF), or trace amounts, in plasma and tissue stores. We have studied the genomic DNA of ten affected individuals from five families with this disorder using two cDNA probes. One probe extended from 175 base pairs of the 5’ untranslated region to the nucleotides encoding amino acid 618 of pro-vWF; the second extended from the nucleotides encoding amino acid 2225 of pro-vWF to 100 bp into the 3’ untranslated region. Three variants of the disorder were identified. Southern blots of restriction en

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Kojima, T., M. Tanimoto, T. Kamiya, Y. Obata, K. Kurachi, and H. Saito. "ANALYSIS OF FACTOR IX GENE IN NORMAL SUBJECTS AND HEMOPHILIA B PATIENTS IN JAPAN." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1644077.

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We have examined DNA samples from 25 hemophilia B patients (21 B- patients, 2 BR patients and 2 B+ patients) and 51 normal subjects with molecular probes (pHFIX and 2 genomic fragments). By structural gene analysis, 4 out of 7 patients who developed anti-factor IX antibodies were detected to have gross factor IX gene deletion. Although these four patients showed normal pattern of HPRT gene detected by pCDHPRT, the gene deletions were found to expand more than 34kb including with entire factor IX exons. Quantitative Southern blot analysis of factor IX gene of the patient's family members indica

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Minner, Sarah Jane Pauline, Ramin Ahray, Martina Kluth, et al. "Abstract 4832: Independent prognostic role of chromosome 12p deletion in prostate cancer." In Proceedings: AACR 106th Annual Meeting 2015; April 18-22, 2015; Philadelphia, PA. American Association for Cancer Research, 2015. http://dx.doi.org/10.1158/1538-7445.am2015-4832.

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Bredel, Markus, Ajay Yadav, Jaclyn Renfrow, et al. "Abstract 1789: NFKBIA deletion in malignant gliomas." In Proceedings: AACR 101st Annual Meeting 2010‐‐ Apr 17‐21, 2010; Washington, DC. American Association for Cancer Research, 2010. http://dx.doi.org/10.1158/1538-7445.am10-1789.

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Dufton, Neil, Mohamed Bellahcene, Alex Sardini, Graeme Birdsey, Michael Schneider, and Anna Randi. "BS6 Endothelial-specific ERG deletion leads to dramatic reduction in cardiopulmonary function." In British Cardiovascular Society Annual Conference ‘Digital Health Revolution’ 3–5 June 2019. BMJ Publishing Group Ltd and British Cardiovascular Society, 2019. http://dx.doi.org/10.1136/heartjnl-2019-bcs.170.

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