322 results on '"Slamova A"'
Search Results
302. Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23
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Lucie Tosca, Corinne Metay, Petra Dusatkova, Audrey Briand-Suleau, Gérard Tachdjian, Zdenek Sedlacek, Philippe Labrune, Zuzana Slamova, Jan Lebl, Elsa Zemankova, Sophie Brisset, Zdenek Sumnik, Michel Goossens, Martina Simandlova, Karen Milcent, Service d'histologie, embryologie et cytogénétique [Béclère], Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Antoine Béclère [Clamart], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Department of Biology and Medical Genetics, Charles University [Prague] (CU)-University Hospital Motol [Prague], Department of Pediatrics, Service de Biochimie-Génétique [Béclère], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de pédiatrie [Béclère], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Antoine Béclère [Clamart], Modèles de Cellules Souches Malignes et Thérapeutiques, Université Paris-Sud - Paris 11 (UP11)-Institut National de la Santé et de la Recherche Médicale (INSERM), Genetic and Pediatric Ambulance, This work was supported by Direction de l'Hospitalisation et de l'Organisation des Soins, grants NT13692 and DRO UH Motol 00064203 from the Czech Ministry of Health, and CZ.2.16/3.1.00/24022., BMC, Ed., AP-HP - Hôpital Antoine Béclère [Clamart], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11), Charles University 2nd Faculty of Medicine-University Hospital Motol [Prague], and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-IFR10
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medicine.medical_specialty ,Hearing loss ,Growth hormone therapy ,Case Report ,[SDV.BC]Life Sciences [q-bio]/Cellular Biology ,[SDV.GEN] Life Sciences [q-bio]/Genetics ,Biochemistry ,14q22q23 microdeletion ,Growth hormone deficiency ,Genotype-phenotype distinction ,Anterior pituitary ,Internal medicine ,medicine ,Genetics ,Endocrine system ,Genetics(clinical) ,Anophthalmia ,[SDV.BC] Life Sciences [q-bio]/Cellular Biology ,Molecular Biology ,Genetics (clinical) ,Biochemistry, medical ,[SDV.GEN]Life Sciences [q-bio]/Genetics ,business.industry ,Biochemistry (medical) ,Cytogenetics ,medicine.disease ,Conductive hearing loss ,Endocrinology ,medicine.anatomical_structure ,Pituitary ,Molecular Medicine ,medicine.symptom ,business ,OTX2 - Abstract
International audience; BACKGROUND: Microdeletions of 14q22q23 have been associated with eye abnormalities and pituitary defects. Other phenotypic features in deletion carriers including hearing loss and response to growth hormone therapy are less well recognized. We studied genotype and phenotype of three newly identified children with 14q22q23 deletions, two girls and one boy with bilateral anophthalmia, and compared them with previously published deletion patients and individuals with intragenic defects in genes residing in the region. RESULTS: The three deletions were de novo and ranged in size between 5.8 and 8.9 Mb. All three children lacked one copy of the OTX2 gene and in one of them the deletion involved also the BMP4 gene. All three patients presented partial conductive hearing loss which tended to improve with age. Analysis of endocrine and growth phenotypes showed undetectable anterior pituitary, growth hormone deficiency and progressive growth retardation in all three patients. Growth hormone therapy led to partial catch-up growth in two of the three patients but just prevented further height loss in the third. CONCLUSIONS: The pituitary hypoplasia, growth hormone deficiency and growth retardation associated with 14q22q23 microdeletions are very remarkable, and the latter appears to have an atypical response to growth hormone therapy in some of the cases.
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303. Switching Towards Monocytic Lineage and Discordancy between Flow Cytometric and PCR Minimal Residual Disease Results Is a Hallmark Feature of DUX4 Rearranged B-Cell Precursor Acute Lymphoblastic Leukemia
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Novakova, Michaela, Vakrmanova, Barbora, Slamova, Lucie, Musilova, Alena, Brüggemann, Monika, Ritgen, Matthias, Fronkova, Eva, Kalina, Tomas, Trka, Jan, Stary, Jan, Vaskova, Martina, Winkowska, Lucie, Zaliova, Marketa, Fišer, Karel, Hrusak, Ondrej, and Mejstrikova, Ester
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Introduction:
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- 2018
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304. Dissecting Childhood B-Other Acute Lymphoblastic Leukemia: Lower Frequency of Druggable Gene Fusions in European Population?
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Zaliova, Marketa, Stuchly, Jan, Fiser, Karel, Musilova, Alena, Slamova, Martina, Winkowska, Lucie, Starkova, Julia, Vaskova, Martina, Zuna, Jan, Stary, Jan, and Trka, Jan
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Novel biological subtypes within B-other (B-o) acute lymphoblastic leukemia (ALL) have been described recently, based on the presence of genomic rearrangements (r.) of specific genes (DUX4, ZNF384and MEF2D) or gene expression signatures (Ph-like and ETV6-RUNX1-like ALL). Genomic profiling not only helped to dissect heterogeneity of B-o phenotype and outcome, but it also identified novel druggable aberrations such as kinase and cytokine receptor gene fusions, that were shown to occur mainly in Ph-like ALL. Unfortunately, only very limited population-based data are available to estimate an unbiased frequency of these novel genetic aberrations and subtypes, especially in European countries.
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- 2017
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305. When Standard Markers Are Not Sufficient for Monitoring Minimal Residual Disease or Targeted Treatment: New Transcriptome Derived Flow Cytometry Markers for Switching B Cell Precursor Leukemias
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Novakova, Michaela, Musilova, Alena, Slamova, Lucie, Vakrmanova, Barbora, Brüggemann, Monika, Ritgen, Matthias, Fronkova, Eva, Kalina, Tomas, Hrusak, Ondrej, Trka, Jan, Stary, Jan, Vaskova, Martina, Winkowska, Lucie, Zaliova, Marketa, Fiser, Karel, and Mejstrikova, Ester
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Switching from B to monocytic lineage is more frequent than expected (4-6% out of all pediatric B cell precursor leukemias (BCP ALLs), called swALL). SwALLs frequently contain CD2 aberrant expression and ERG gene deletions. Recently described subtype characterized by rearrangement of DUX4 gene overlaps with swALL. The B-to-monocytoid switching can be missed by current flow cytometry (FC) antibody panels. The search for better FC markers is of clinical importance also in the context of switching occurring under CD19 directed therapies (blinatumomab or CAR T cells). The malignant potential of switched blasts is not clear, there is an evidence that part of the patients might suffer from relapse corresponding to BCP ALL. However, the relapse corresponding to switched monocytic blasts was also observed. We performed RNA sequencing of swALL diagnostic blasts (n=31), intermediate cells co-expressing B cell and monocytic markers (n=3) and switched monocytic blasts (n=6, clonal relatedness was confirmed by identification of identical Ig-TCR rearrangements with initial BCP ALL clone), control BCP ALLs (n=50), monocytic AMLs (n=5, MLL rearranged 3, CBFb/MYH11 2) and healthy monocytes sorted from blood (n=3) to answer following questions:
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- 2017
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306. Modelling amyloidosis in mice
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Slamova, I.
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Amyloidosis is a group of disorders in which specific soluble proteins convert into insoluble extracellular fibrillar deposits. Certain mutations in amyloid prone proteins result in aggressive forms of the disease. β2-microglobulin (β2m), a cell surface protein and transthyretin (TTR), a normal plasma protein, are inherently amyloidogenic. In patients undergoing long-term dialysis, ineffective clearance of β2m from the plasma results in sustained increase of its concentration and its deposition as amyloid. Wild type TTR is the amyloid precursor in senile systemic amyloidosis, a cause of heart failure in the elderly, and various different mutations in the human TTR gene cause the autosomal dominant conditions familial amyloid polyneuropathy and familial amyloid cardiomyopathy. The D76N β2m variant causes highly penetrant hereditary systemic amyloidosis. Similarly, the S52P TTR variant also causes aggressive amyloidosis which is characterised by prominent cardiac ATTR deposits. Animal models for Aβ2m amyloidosis and ATTR amyloidosis have long been sought to enable a better understanding of disease mechanisms and for validation of diagnostic methods and treatments, but previous attempts to model these diseases in vivo have met with limited or no success. The aims of this project were to generate mouse models of: (1) Aβ2m amyloidosis and (2) cardiac ATTR amyloidosis by transgenic expression of these highly amyloidogenic variants. In the work presented here, hβ2mD76N transgenic mice and hTTRS52P transgenic mice were generated. Despite expressing high plasma concentrations of the amyloidogenic proteins, the mice did not spontaneously develop amyloidosis. After priming amyloid deposition with pre formed amyloid fibrils, the hβ2mD76N transgenic mice failed to develop amyloid deposits. It is notable that most of the β2m circulates bound in a complex, potentially limiting the availability of free β2m monomers for conversion into fibrils. In the hTTRS52P transgenic mice, priming of amyloid deposition with amyloid fibrils led to consistent and reproducible development of cardiac ATTR amyloidosis.
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- 2016
307. DLX1 Affects Cell Cycle and Proliferation of Myeloid Leukemia Cells In Vitro and In Vivo
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Rejlova, Katerina, Kardosova, Miroslava, Slamova, Martina, Zaliova, Marketa, Alberich-Jorda, Meritxell, Trka, Jan, and Starkova, Julia
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No relevant conflicts of interest to declare.
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- 2016
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308. The Role of Histone Demethylases and DNA Methyltransferases in the Transcription Regulation of HOX Genes in PML-RARa+ AML Patients
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Rejlova, Katerina, Musilova, Alena, Slamova, Martina, Fiser, Karel, Skvarova Kramarzova, Karolina, Zaliova, Marketa, Trka, Jan, and Starkova, Julia
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No relevant conflicts of interest to declare.
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- 2016
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309. DLX1 Affects Cell Cycle and Proliferation of Myeloid Leukemia Cells In Vitroand In Vivo
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Rejlova, Katerina, Kardosova, Miroslava, Slamova, Martina, Zaliova, Marketa, Alberich-Jorda, Meritxell, Trka, Jan, and Starkova, Julia
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The DLX homeodomain genes are part of the Drosophila distal-lessfamily, originally identified in the forebrain of the developing mouse embryo. DLX1 gene is expressed also in the hematopoietic cells. Our previous data showed that patients with FLT3/ITD (internal tandem duplication) mutation representing about 35% of all acute myeloid leukemia (AML) cases have higher expression of DLX1 compared to non-FLT3/ITD AML patients. Further, FLT3 signaling was described to regulate DLX1 gene expression.
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- 2016
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310. Retraction: Heterologous expression, purification and characterization of nitrilase from Aspergillus niger K10.
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Kaplan, Ondrej, Bezouska, Karel, Plihal, Ondrej, Ettrich, Rudiger, Kulik, Natallia, Vanek, Ondrej, Kavan, Daniel, Benada, Oldrich, Malandra, Anna, Sveda, Ondrej, Vesela, Alicja B., Rinagelova, Anna, Slamova, Kristyna, Cantarella, Maria, Felsberg, Jurgen, Duskova, Jarmila, Dohnalek, Jan, Kotik, Michael, Kren, Vladimir, and Martinkova, Ludmila
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PERIODICAL articles ,AUTHORS ,ATTITUDE (Psychology) - Abstract
The article offers information on the article "Heterologous expression, purification and characterization of nitrilase from Aspergillus niger K10," by O. Kaplan and colleagues which was retracted from the journal due to data misappropriations and ethical misconduct of one of its authors.
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- 2013
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311. Hydrolysis of yeast cell-wall glucan by extracellular (1→3)- β-glucanases from Aspergillus niger
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Kéry, V., Kogan, G., Zajacová, K., Slámová, K., Masler, L., and Alföldi, J.
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- 1991
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312. Cobalt‐Catalyzed Deoxygenative Hydroboration of Nitro Compounds and Applications to One‐Pot Synthesis of Aldimines and Amides.
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Gudun, Kristina A., Zakarina, Raikhan, Segizbayev, Medet, Hayrapetyan, Davit, Slamova, Ainur, and Khalimon, Andrey Y.
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ALDIMINES , *NITRO compounds , *AMIDES , *HYDROBORATION , *CARBOXYLIC acids , *CARBOXAMIDES - Abstract
The commercially available and bench‐stable Co(acac)2 ligated with bis[(2‐diphenylphosphino)phenyl] ether (dpephos) was employed for selective room temperature hydroboration of nitro compounds with HBPin (TOF up to 4615 h−1), tolerating halide, hydroxy, amino, ether, ester, lactone, amide and heteroaromatic functionalities. These reactions offered a direct access to a variety of N‐borylamines RN(H)BPin, which were in situ treated with aldehydes and carboxylic acids to produce a series of aldimines and secondary carboxamides without the need for dehydrating and/or coupling reagents. Combination of these transformations in a sequential one‐pot manner allowed for direct and selective synthesis of aldimines and secondary carboxamides from readily available and inexpensive nitro compounds. [ABSTRACT FROM AUTHOR]
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- 2022
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313. Motif-Index of German Secular Narratives from the Beginning to 1400, 1-VI.
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Slamova, Kristyna
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- 2009
314. Rare IDH1 variants are common in pediatric hemispheric diffuse astrocytomas and frequently associated with Li-Fraumeni syndrome.
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Sumerauer, David, Krskova, Lenka, Vicha, Ales, Misove, Adela, Mamatjan, Yasin, Jencova, Pavla, Vlckova, Marketa, Slamova, Lucie, Vanova, Katerina, Liby, Petr, Taborsky, Jakub, Koblizek, Miroslav, Klubal, Radek, Kyncl, Martin, Zadeh, Gelareh, Stary, Jan, Zamecnik, Josef, Ramaswamy, Vijay, and Zapotocky, Michal
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LI-Fraumeni syndrome , *ASTROCYTOMAS , *CHILDHOOD cancer , *BRAIN tumors , *NUCLEAR magnetic resonance spectroscopy - Abstract
Current methods of detecting I IDH1 i mutational status rely primarily on immunohistochemistry or droplet digital PCR which is specific to the detection of the I IDH1 R132H i mutation. Recently, Orr et al. reviewed LFS-associated brain tumours describing adults at risk of developing diffuse astrocytomas harbouring I IDH1 R132C i mutation [[6]]. Our findings using genome wide DNA methylation profiling indicate that pediatric IDH gliomas do not differ epigenetically from classical adult onset IDH related gliomas, where the natural history would suggest eventual malignant progression. [Extracted from the article]
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- 2020
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315. Tree-ring anatomy of Pinus cembra trees opens new avenues for climate reconstructions in the European Alps.
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Lopez-Saez, Jérôme, Corona, Christophe, von Arx, Georg, Fonti, Patrick, Slamova, Lenka, and Stoffel, Markus
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- 2023
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316. Oral health, dental care and mouthwash associated with upper aerodigestive tract cancer risk in Europe: The ARCAGE study.
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Ahrens, Wolfgang, Pohlabeln, Hermann, Foraita, Ronja, Nelis, Mari, Lagiou, Pagona, Lagiou, Areti, Bouchardy, Christine, Slamova, Alena, Schejbalova, Miriam, Merletti, Franco, Richiardi, Lorenzo, Kjaerheim, Kristina, Agudo, Antonio, Castellsague, Xavier, Macfarlane, Tatiana V., Macfarlane, Gary J., Lee, Yuan-Chin Amy, Talamini, Renato, Barzan, Luigi, and Canova, Cristina
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ORAL hygiene , *DENTAL care , *MOUTHWASHES , *GASTROINTESTINAL cancer , *CANCER risk factors , *ALCOHOL metabolism ,RESPIRATORY organ cancer - Abstract
Abstract: Objective: We aimed to assess the association of oral health (OH), dental care (DC) and mouthwash with upper-aerodigestive tract (UADT) cancer risk, and to examine the extent that enzymes involved in the metabolism of alcohol modify the effect of mouthwash. Materials and methods: The study included 1963 patients with incident cancer of the oral cavity, oropharynx, hypopharynx, larynx or esophagus and 1993 controls. Subjects were interviewed about their oral health and dental care behaviors (which were converted to scores of OH and DC respectively), as well as smoking, alcohol drinking, diet, occupations, medical conditions and socio-economic status. Blood samples were taken for genetic analyses. Mouthwash use was analyzed in relation to the presence of polymorphisms of alcohol-metabolizing genes known to be associated with UADT. Adjusted odds ratios (ORs) and 95%-confidence intervals [CI] were estimated with multiple logistic regression models adjusting for multiple confounders. Results: Fully adjusted ORs of low versus high scores of DC and OH were 2.36[CI=1.51–3.67] and 2.22[CI=1.45–3.41], respectively, for all UADT sites combined. The OR for frequent use of mouthwash use (3 or more times/day) was 3.23[CI=1.68–6.19]. The OR for the rare variant ADH7 (coding for fast ethanol metabolism) was lower in mouthwash-users (OR=0.53[CI=0.35–0.81]) as compared to never-users (OR=0.97[CI=0.73–1.29]) indicating effect modification (p heterogeneity =0.065) while no relevant differences were observed between users and non-users for the variant alleles of ADH1B, ADH1C or ALDH2. Conclusions: Poor OH and DC seem to be independent risk factors for UADT because corresponding risk estimates remain substantially elevated after detailed adjustment for multiple confounders. Whether mouthwash use may entail some risk through the alcohol content in most formulations on the market remains to be fully clarified. [Copyright &y& Elsevier]
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- 2014
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317. Role of medical history and medication use in the aetiology of upper aerodigestive tract cancers in Europe: the ARCAGE study.
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Macfarlane, T. V., Macfarlane, G. J., Thakker, N. S., Benhamou, S., Bouchardy, C., Ahrens, W., Pohlabeln, H., Lagiou, P., Lagiou, A., Castellsague, X., Agudo, A., Slamova, A., Plzak, J., Merletti, F., Richiardi, L., Talamini, R., Barzan, L., Kjaerheim, K., Canova, C., and Simonato, L.
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ETIOLOGY of diseases , *ESOPHAGUS , *HEARTBURN , *ASPIRIN , *GASTROESOPHAGEAL reflux ,ALIMENTARY canal cancer - Abstract
Background: The study aimed to investigate the role of medical history (skin warts, Candida albicans, herpetic lesions, heartburn, regurgitation) and medication use (for heartburn; for regurgitation; aspirin) in the aetiology of upper aerodigestive tract (UADT) cancer.Methods: A multicentre (10 European countries) case–control study [Alcohol-Related CAncers and GEnetic susceptibility (ARCAGE) project].Results: There were 1779 cases of UADT cancer and 1993 controls. History of warts or C. albicans infection was associated with a reduced risk [odds ratio (OR) 0.80, 95% confidence interval (CI) 0.68–0.94 and OR 0.73, 95% CI 0.60–0.89, respectively] but there was no association with herpetic lesions, heartburn, regurgitation or medication for related symptoms. Regurgitation was associated with an increased risk for cancer of the oesophagus (OR 1.47, 95% CI 0.98–2.21). Regular aspirin use was not associated with risk of UADT cancer overall but was associated with a reduced risk for cancer of oesophagus (OR 0.51, 95% CI 0.28–0.96), hypopharynx (OR 0.53, 95% CI 0.28–1.02) and larynx (OR 0.74, 95% CI 0.54–1.01).Conclusions: A history of some infections appears to be a marker for decreased risk of UADT cancer. The role of medical history and medication use varied by UADT subsites with aspirin use associated with a decreased risk of oesophageal cancer and suggestive of a decreased risk of hypopharyngeal and laryngeal cancers. [ABSTRACT FROM PUBLISHER]
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- 2012
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318. Population attributable risk of tobacco and alcohol for upper aerodigestive tract cancer
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Anantharaman, Devasena, Marron, Manuela, Lagiou, Pagona, Samoli, Evangelia, Ahrens, Wolfgang, Pohlabeln, Hermann, Slamova, Alena, Schejbalova, Miriam, Merletti, Franco, Richiardi, Lorenzo, Kjaerheim, Kristina, Castellsague, Xavier, Agudo, Antonio, Talamini, Renato, Barzan, Luigi, Macfarlane, Tatiana V., Tickle, Martin, Simonato, Lorenzo, Canova, Cristina, and Conway, David I.
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TOBACCO use , *CANCER risk factors , *PAPILLOMAVIRUSES , *SMOKING , *PHARYNGEAL cancer , *ORAL cancer ,ALIMENTARY canal cancer - Abstract
Summary: Tobacco and alcohol are major risk factors for upper aerodigestive tract (UADT) cancer and significant variation is observed in UADT cancer rates across Europe. We have estimated the proportion of UADT cancer burden explained by tobacco and alcohol and how this varies with the incidence rates across Europe, cancer sub-site, gender and age. This should help estimate the minimum residual burden of other risk factors to UADT cancer, including human papillomavirus. We analysed 1981 UADT cancer cases and 1993 controls from the ARCAGE multicentre study. We estimated the population attributable risk (PAR) of tobacco alone, alcohol alone and their joint effect. Tobacco and alcohol together explained 73% of UADT cancer burden of which nearly 29% was explained by smoking alone, less than 1% due to alcohol on its own and 44% by the joint effect of tobacco and alcohol. Tobacco and alcohol together explained a larger proportion of hypopharyngeal/laryngeal cancer (PAR=85%) than oropharyngeal (PAR=74%), esophageal (PAR=67%) and oral cancer (PAR=61%). Tobacco and alcohol together explain only about half of the total UADT cancer burden among women. Geographically, tobacco and alcohol explained a larger proportion of UADT cancer in central (PAR=84%) than southern (PAR=72%) and western Europe (PAR=67%). While the majority of the UADT cancers in Europe are due to tobacco or the joint effect of tobacco and alcohol, our results support a significant role for other risk factors in particular, for oral and oropharyngeal cancers and also for UADT cancers in southern and western Europe. [Copyright &y& Elsevier]
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- 2011
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319. Aminophosphine PN H complexes of Mn(I), Fe(II), and Co(II) and evaluation of their activities in the transfer hydrogenation of nitriles.
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Slamova A, Bizhanova A, Talimonyuk O, Gudun KA, Tussupbayev S, Dmitrienko A, Kassymbek A, Lyssenko KA, and Khalimon AY
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A series of Mn(I), Fe(II), and Co(II) complexes with PN
H ligands bearing secondary amine functionality were prepared and tested in the catalytic transfer hydrogenation of nitriles using ammonia borane as a hydrogen source. Among all tested complexes, a tetracoordinate Fe(II) bromide, (PNH )FeBr2 , proved the most effective, representing a rare example of a highly active iron-based catalytic system for transfer hydrogenation reactions beyond carbonyl compounds and the first example of the iron catalyst for the transfer hydrogenation of nitriles to the corresponding primary amines. Mechanistic studies point out a metal-ligand cooperative mechanism enabled by the secondary amine moiety of the PNH ligand.- Published
- 2024
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320. Hydroboration of isocyanates: cobalt-catalyzed vs. catalyst-free approaches.
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Gudun KA, Tussupbayev S, Slamova A, and Khalimon AY
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- Catalysis, Formamides, Methylamines, Molecular Structure, Cobalt, Isocyanates
- Abstract
Hydroboration of isocyanates with HBPin was demonstrated using both catalytic and catalyst-free approaches. In arene solvents, the reactions employed the commercially available and bench-stable Co(acac)
2 /dpephos (dpephos = bis[(2-diphenylphosphino)phenyl] ether) pre-catalyst and proved chemodivergent, showing the formation of either formamides or N -methylamines, depending on the concentration of HBPin and the reaction conditions used. Catalytic monohydroboration of isocyanates to formamides was found to be highly chemoselective, tolerating alkenes, alkynes, aryl halides, esters, carboxamides, nitriles, nitroarenes and heteroaromatic functionalities. The catalyst-free hydroboration reactions have been demonstrated in neat HBPin. Whereas monohydroboration proved less selective compared with Co(acac)2 /dpephos-catalyzed transformations, selective deoxygenative hydroboration of isocyanates to N -methylamines was observed under catalyst-free conditions.- Published
- 2022
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321. Efficient Co-Catalyzed Double Hydroboration of Nitriles: Application to One-Pot Conversion of Nitriles to Aldimines.
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Gudun KA, Slamova A, Hayrapetyan D, and Khalimon AY
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The commercially available and bench-stable Co(acac)
2 /dpephos system is employed as a precatalyst for selective and efficient room temperature hydroboration of organic nitriles with HBPin to produce a series of N,N-diborylamines [RN(BPin)2 ], which react in situ with aldehydes to give aldimines. Formation of aldimines from N,N-diborylamines does not require a dehydrating agent, is applicable to a wide range of N,N-diborylamine and aldehyde substrates and is highly chemoselective, being unaffected by various common functional groups, such as alkenes, alkynes, secondary amines, ketones, esters, amides, carboxylic acids, pyridines, nitriles, and nitro compounds. The overall transformation represents a synthetically valuable approach to aldimines from nitriles and can be performed in a sequential one-pot manner, tolerating ester, lactone, carboxamide and unactivated alkene functionalities., (© 2020 Wiley-VCH Verlag GmbH & Co. KGaA, Weinheim.)- Published
- 2020
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322. A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23.
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Wu X, Scelo G, Purdue MP, Rothman N, Johansson M, Ye Y, Wang Z, Zelenika D, Moore LE, Wood CG, Prokhortchouk E, Gaborieau V, Jacobs KB, Chow WH, Toro JR, Zaridze D, Lin J, Lubinski J, Trubicka J, Szeszenia-Dabrowska N, Lissowska J, Rudnai P, Fabianova E, Mates D, Jinga V, Bencko V, Slamova A, Holcatova I, Navratilova M, Janout V, Boffetta P, Colt JS, Davis FG, Schwartz KL, Banks RE, Selby PJ, Harnden P, Berg CD, Hsing AW, Grubb RL 3rd, Boeing H, Vineis P, Clavel-Chapelon F, Palli D, Tumino R, Krogh V, Panico S, Duell EJ, Quirós JR, Sanchez MJ, Navarro C, Ardanaz E, Dorronsoro M, Khaw KT, Allen NE, Bueno-de-Mesquita HB, Peeters PH, Trichopoulos D, Linseisen J, Ljungberg B, Overvad K, Tjønneland A, Romieu I, Riboli E, Stevens VL, Thun MJ, Diver WR, Gapstur SM, Pharoah PD, Easton DF, Albanes D, Virtamo J, Vatten L, Hveem K, Fletcher T, Koppova K, Cussenot O, Cancel-Tassin G, Benhamou S, Hildebrandt MA, Pu X, Foglio M, Lechner D, Hutchinson A, Yeager M, Fraumeni JF Jr, Lathrop M, Skryabin KG, McKay JD, Gu J, Brennan P, and Chanock SJ
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- Humans, Carcinoma, Renal Cell genetics, Chromosomes, Human, Pair 12, Genetic Predisposition to Disease, Genome-Wide Association Study, Kidney Neoplasms genetics
- Abstract
Renal cell carcinoma (RCC) is the most lethal urologic cancer. Only two common susceptibility loci for RCC have been confirmed to date. To identify additional RCC common susceptibility loci, we conducted an independent genome-wide association study (GWAS). We analyzed 533 191 single nucleotide polymorphisms (SNPs) for association with RCC in 894 cases and 1516 controls of European descent recruited from MD Anderson Cancer Center in the primary scan, and validated the top 500 SNPs in silico in 3772 cases and 8505 controls of European descent involved in the only published GWAS of RCC. We identified two common variants in linkage disequilibrium, rs718314 and rs1049380 (r(2) = 0.64, D ' = 0.84), in the inositol 1,4,5-triphosphate receptor, type 2 (ITPR2) gene on 12p11.23 as novel susceptibility loci for RCC (P = 8.89 × 10(-10) and P = 6.07 × 10(-9), respectively, in meta-analysis) with an allelic odds ratio of 1.19 [95% confidence interval (CI): 1.13-1.26] for rs718314 and 1.18 (95% CI: 1.12-1.25) for rs1049380. It has been recently identified that rs718314 in ITPR2 is associated with waist-hip ratio (WHR) phenotype. To our knowledge, this is the first genetic locus associated with both cancer risk and WHR., (© The Author 2011. Published by Oxford University Press. All rights reserved.)
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- 2012
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