Tesis sobre el tema "DMEK"
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Honkomp, Tina [Verfasser]. "Intraokulare Druckerhöhung und post-DMEK Glaukom / Tina Honkomp, geb. Wolf". Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2018. http://d-nb.info/1172206031/34.
Texto completoSchwinde, Jan-Hendrik [Verfasser], Gerd [Gutachter] Geerling y Lars [Gutachter] Wojtecki. "Langzeitergebnisse nach Descemet-Membran Endothel Kerato-plastik (DMEK) und Triple-Descemet-Membran Endothel Keratoplastik (Triple-DMEK) im Vergleich / Jan-Hendrik Schwinde ; Gutachter: Gerd Geerling, Lars Wojtecki". Düsseldorf : Universitäts- und Landesbibliothek der Heinrich-Heine-Universität Düsseldorf, 2019. http://d-nb.info/1188017888/34.
Texto completoPedemonte, Sarrias Eduard. "Tècnica de Muraine per a DMEK: anàlisi comparativa amb la tècnica estàndard". Doctoral thesis, Universitat Autònoma de Barcelona, 2017. http://hdl.handle.net/10803/405259.
Texto completoDescemet’s membrane endothelial keratoplasty (DMEK) is the current gold standard treatment for irreversible corneal oedema. After Melles developed this technique in 2006, Muraine proposed in 2013 an alternative technique for the dissection and implantation of the graft. Its main contributions were: hidrodissecting the graft from a partially trephined, inverted donor tissue, and folding the graft over the endothelial side, which favoured the protection of endothelial cells and the graft’s natural tendency to unfold in the receptor’s anterior chamber. The purpose of this doctoral thesis is to compare Muraine’s technique to the Standard through analysis of the postoperative endothelial cell density (ECD) and visual acuity (VA), surgical time, and intraoperative and postoperative complications. An observational, multicentric, prospective, cohorts trial was carried out in Hospital Universitari MútuaTerrassa and Institut de Microcirurgia Ocular in a daily praxis basis. There were follow-up controls over the six months following the surgery, at least at day one, first week and first, third and sixth months. Twenty-seven eyes from 20 patients were included in the Standard technique group. Forty-two eyes from 40 patients were included in the Muraine’s technique group. The ECD at six months was 1488 (1337-1679) cells/mm2 for the Standard group and 1170 (734-1614) cells/mm2 for Muraine’s group. The mean VA at six months was 0.89 for the Standard group and 0.79 for Muraine’s group, in the decimal scale (P=0.19). Around 80% of the eyes reached a VA of 0.5 or higher and 50-70%, 0.8 or higher. The ECD and the percentage of ECD loss with Muraine’s technique at the first month after surgery were equivalent to the Standard technique’s. The percentage of ECD loss at six months was higher with Muraine’s technique, although the ECD was clinically comparable. The VA achieved at six months was equivalent. Muraine’s technique was as safe as the Standard technique for the graft dissection. The incidence of intraoperative complications among the eyes with uncomplicated phacoemulsification was not statistically higher with Muraine’s technique. The graft dissection with Muraine’s technique was slower. Conversely, the unfolding was slightly faster. Both techniques had a high graft survival rate. The most frequent postoperative complication in both groups was cystoid macular oedema. The grafts dissected with Muraine’s technique had a higher incidence of need for rebubbling.
Wardeh, Rima [Verfasser] y Walter [Akademischer Betreuer] Sekundo. "Long-Term Results after DMEK (Descemet’s Membrane Endothelial Keratoplasty) / Rima Wardeh ; Betreuer: Walter Sekundo". Marburg : Philipps-Universität Marburg, 2020. http://d-nb.info/1205879730/34.
Texto completoSchmeckenbächer, Nikola [Verfasser], Theofilos [Akademischer Betreuer] Tourtas y Theofilos [Gutachter] Tourtas. "Zusammenhang von intraoperativ bei DMEK gemessenem Augeninnendruck und postoperativer Transplantatadhäsion / Nikola Schmeckenbächer ; Gutachter: Theofilos Tourtas ; Betreuer: Theofilos Tourtas". Erlangen : Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 2021. http://d-nb.info/1234714213/34.
Texto completoAbdin, Alaa Din [Verfasser]. "Impact of dextran in organ culture media for preservation of DMEK (Descemet Membrane Endothelial Keratoplasty) precut tissue / Alaa Din Abdin". Saarbrücken : Saarländische Universitäts- und Landesbibliothek, 2020. http://d-nb.info/1216104832/34.
Texto completoBorgardts, Klara [Verfasser], Gerd [Gutachter] Geerling y Colin [Gutachter] MacKenzie. "Untersuchung des Glycerinbades als prädiktiver Parameter für den Erfolg nach einer Descemetmembran Endothelkeratoplastik (DMEK) / Klara Borgardts ; Gutachter: Gerd Geerling, Colin MacKenzie". Düsseldorf : Universitäts- und Landesbibliothek der Heinrich-Heine-Universität Düsseldorf, 2019. http://d-nb.info/1190350726/34.
Texto completoGerber, Fanny Luise [Verfasser], Björn [Gutachter] Bachmann y Stefan [Gutachter] Haneder. "Korneale Densitometrie als diagnostischer Prädiktor für den postoperativen Visus nach Descemet membrane endothelial keratoplasty (DMEK) / Fanny Luise Gerber ; Gutachter: Björn Bachmann, Stefan Haneder". Köln : Deutsche Zentralbibliothek für Medizin, 2021. http://d-nb.info/1229352899/34.
Texto completoAmpazas, Paraskevas [Verfasser] y Walter [Akademischer Betreuer] Sekundo. "Transplantatanlagerate bei Verwendung von 5% SF6- Gas versus Luft bei der Endotamponade im Rahmen der Descemet-Membran Endothelialen Keratoplastik (DMEK): Eine retrospektive Erhebung. / Paraskevas Ampazas ; Betreuer: Walter Sekundo". Marburg : Philipps-Universität Marburg, 2018. http://d-nb.info/1161847049/34.
Texto completoOstroumov, Ivan Victorovich. "Analysis of DME/DME positioning capabilities for borispil airspace region". Thesis, ІІ National Scientific Conference of young scientists and students «Problems and prospects of Aeronautics and Astronautics» 23 – 24 October 2013 y – Kyiv, 2013. – P. 21, 2013. http://er.nau.edu.ua/handle/NAU/26591.
Texto completoOstroumov, Ivan Victorovich. "Расчёт точности дальномерного оборудования DME для определённой высоты полёта и геометриии взаимного расположения". Thesis, Национальный авиационный университет, 2017. http://er.nau.edu.ua/handle/NAU/28123.
Texto completoDavis, Brigid Michele 1967. "DMPK and myotonic dystrophy : effects of CTG trinucleotide expansion upon DMPK and their contribution to DM pathogenesis". Thesis, Massachusetts Institute of Technology, 1998. http://hdl.handle.net/1721.1/49633.
Texto completoIto, H., D. Suzuki, Y. Yokochi, S. Kuroda, M. Umemiya, H. Miyasaka, K.-I. Sugiura, M. Yamashita y H. Tajima. "Quasi-one-dimensional electronic structure of (DMET)_2CuCl_2". The American Physical Society, 2005. http://hdl.handle.net/2237/7127.
Texto completoMoncrieff, Colin Lindsay. "Cloning and characterisation of a novel DMPK-related gene : CDC42BPB". Thesis, University of Glasgow, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.323439.
Texto completoZhu, Xianmin Elefant Felice. "The histone acetyltransferase Dmel\TIP60 Is essential for multicellular development in Drosophila /". Philadelphia, Pa. : Drexel University, 2007. http://hdl.handle.net/1860/2582.
Texto completoLuciano, Brenda Sierra 1965. "Proteomic analysis of the function of DMPK, the myotonic dystrophy protein kinase". Thesis, Massachusetts Institute of Technology, 2001. http://hdl.handle.net/1721.1/8207.
Texto completoIncludes bibliographical references.
Myotonic Dystrophy type 1 (DM1), the most common form of adult-onset skeletal muscle dystrophy, is caused by expansion of a CTG repeat sequence embedded in the 3'UTR of a gene which encodes a serine threonine kinase, DMPK. The precise mechanism by which CTG repeat expansion causes the complex pathology of DM1 is under active investigation. Repeat expansion leads to a failure of transport of DMPK mRNA from nucleus to cytoplasm indicating that reduction in DMPK expression levels is at least one major consequence of repeat expansion. Mouse models suggest that haploinsufficiency of DMPK accounts for at least a portion of the symptoms of DM1. DMPK -/- mice exhibit a progressive muscle myopathy similar to that seen in DM1, and both DMPK -/- and DMPK +/- mice reiterate cardiac conduction abnormalities characteristic of DM1 patients. However, the in vivo role of DMPK, the identity and nature of its substrate(s) and the biological pathway(s) within which it functions remain to be elucidated. To determine the in vivo function of DMPK I have taken a proteomics-based approach that utilizes 2-dimensional SDS-PAGE and mass spectrometry to compare directly heart proteins of wild-type and DMPK -/- mice in order to identify proteins that are altered in the absence of DMPK.
(cont.) I have identified several proteins with altered mobility on 2D SDS-PAGE gels in mutant versus wild-type cells in heart and peripheral muscle of DMPK-/- animals. Two of these were analyzed by mass spectrometry and identified as fatty acid binding proteins (FABPs). The altered mobility of these proteins suggests that they have different properties in the absence of DMPK. Further investigation of these FABPs could potentially shed light into the in vivo role of DMPK and into the biological pathway(s) in which DMPK functions.
by Brenda Sierra Luciano.
Ph.D.
Pantic, Boris. "DMPK prevents ROS-induced cell death by assembling a HK II-Src complex on mitochondrial surface". Doctoral thesis, Università degli studi di Padova, 2012. http://hdl.handle.net/11577/3422198.
Texto completoDMPK è la serina/treonina protein kinasi, la quale è stata inizialmente proposta come la causa della più frequente distrofia muscolare negli adulti, la distrofia miotonica del tipo 1 (DM1). Recentemente si è visto che la DMPK non è la causa principale della DM1, ma la sua delezione causa miopatia ad insorgenza tardiva e anomalie cardiache nei topi knock-out. I dati presenti in letteratura attribuiscono la localizzazione mitocondriale alle isoforme ad alto peso molecolare nel muscolo e nel tessuto cardiaco. Comunque, finora non vi sono stati studi volti ad associare il ruolo delle isoforme mitocondriali della DMPK alla funzione dell’organulo nei tessuti in questione. Perciò, abbiamo deciso di esaminare il ruolo dall’isoforma A associata ai mitocondri, sia esprimendola stabilmente nelle cellule prive della DMPK endogena, sia silenziando stabilmente quella endogena. DMPK ha significativamente diminuito i livelli del superossido mitocondriale e, di conseguenza, ha aumentato la sopravvivenza delle cellule SAOS-2 e rabdomiosarcoma in deplezione di siero e glucosio. A livello molecolare, abbiamo trovato che la DMPK interagisce con HK II e Src aumentando l’associazione dell’HK II ai mitocondri. Il distacco dell’HK II dai mitocondri ha cancellato le differenze nei livelli di superossido, mentre l’inibitore dell’HK II 5-TG ha protetto le cellule dalla morte stabilizzando l’HK II sulla membrana mitocondriale esterna e diminuendo i livelli di ROS mitocondriali in assenza della DMPK. Src aveva la funzione di mantenere HK II sulla membrana mitocondriale esterna, in quanto la sua inibizione ha sensibilizzato le cellule al distacco dell’HK II solo se esprimevano la DMPK. Questo studio attribuisce un ruolo anti-apoptotico alla DMPK grazie all’interazione con HK II e la sua funzione protettiva contro i ROS di origine mitocondriale.
Delgoda, Rupika. "A study of arylamine N-acetyltransferase from Salmonella typhimurium". Thesis, University of Oxford, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.302221.
Texto completoDa, Silva Franck. "Amélioration de la prédiction de la clairance métabolique via l’utilisation de modèles hépatiques innovants". Thesis, Montpellier, 2018. http://www.theses.fr/2018MONTT083.
Texto completoThe selection of the best drug candidates is based on multiparametric choices combining the potential efficacy, ADME characteristics and the safety profile of the new chemical entities. In this sense, the early prediction of pharmacokinetic is essential to guide decision-making and provide a relevant course for projects. Because of its central role in drug disposition, metabolic clearance mediated primarily by the liver is one of the most important parameters. The objective of this project was to improve clearance prediction by focusing on low clearance compounds that are still difficult to study. This work allowed us to expand our knowledge on in vitro liver models and usual extrapolation methods but also to discover and develop new prediction strategies. We focused on metabolic clearance and all parameters that impact the predictions. Micropatterned co-cultures (MPCCs) of primary human hepatocytes (HepatopacTM), which stabilizes hepatocytes over several weeks, has been identified as a judicious alternative to routine models when the molecules cannot be studied in conventional monolayer culture. The study of plasma protein binding and the integration of new physiological hypothesis such as the "Albumin-Facilitated Uptake" also contributed to improve the predictions. Given the performance of the HepatopacTM model, we have developed an innovative approach using a digital dispensing system to spot collagen and produce all types of micropatterned co-cultures. Co-cultures manufactured by this technique demonstrate that the method is robust, accessible and easy to use. Our spotting method was used to evolve the MPCC model and explore new applications
Mbarawa, M., W. Lee, YW Nam y SH Chung. "Ethylene propane and ethylene ester synergistic effects on soot formation". R&D Journal of the South African Institution of Mechanical Engineering, 2007. http://encore.tut.ac.za/iii/cpro/DigitalItemViewPage.external?sp=1000860.
Texto completoDemir, Hakan. "Dimethyl Ether (dme) Synthesis Using Mesoporous Sapo-34 Like Catalytic Materials". Master's thesis, METU, 2011. http://etd.lib.metu.edu.tr/upload/12613471/index.pdf.
Texto completoC with DME selectivity and yield values of 1 and 0.49, respectively. Since utilizing microporous SAPO-34 catalyst gave higher methanol conversion, 67%, at lower temperature, 250°
C, with dimethyl ether selectivity of around 1, mesoporous SAPO-34 like catalysts are not suitable for this reaction.
Labuschagne, Jeanine. "Molecular methods for genotyping selected detoxification and DNA repair enzymes / J. Labuschagne". Thesis, North-West University, 2010. http://hdl.handle.net/10394/4599.
Texto completoThesis (M.Sc. (Biochemistry))--North-West University, Potchefstroom Campus, 2011.
Bachir-Cherif, Dalila. "Influence of bile-duct cannulation on the expression of DMPK-relevant enzymes in the rat". Strasbourg, 2011. https://publication-theses.unistra.fr/restreint/theses_doctorat/2011/BACHIR-CHERIF_Dalila_2011.pdf.
Texto completoLhoumaud, Priscillia. "Rôle de l'histone méthyl-transférase dMes-4 dans l'expression des gènes, la pause et l'épissage". Toulouse 3, 2014. http://www.theses.fr/2014TOU30096.
Texto completoThe Drosophila insulator-binding proteins (IBPs) Beaf32/dCTCF regulate gene expression, through mechanisms that may involve their role in chromatin organization. One hypothesis is that chromatin insulators may lead to open chromatin locally, thereby recruiting factors involved in transcriptional activation. During my PhD, I have identified a key histone modifier, dMes-4, as a novel co-factor of IBPs involved in chromatin accessibility, which specifically co-regulates hundreds of genes flanked by Beaf32/dCTCF. DMes-4, the only H3K36me2 histone methyltransferase in Drosophila, may play a key role in the recruitment of Histone acetyltransferases (HATs) leading to a chromatin opening. Our results show that dMes-4 is recruited at gene promoters through IBPs, thereby opening chromatin locally for the recruitment of the transcriptional activator DREF. Such transcriptional activation is involved in oncogene activation. Our results show that DREF triggers RNAPII elongation concomitantly with the trimethylation of H3K36 (H3K36me3) by dHypB, thereby allowing H3K36me3-dependent RNA splicing. Our work highlights a key role of IBPs/dMes-4 in presetting chromatin for transcriptional activation and proper RNA splicing. A second part of my Ph. D. Work was to characterize the respective roles of dMes-4 and dHypB in the "switch" from RNAPII pausing to transcription elongation, through the recruitment of the complex P-TEFb. We show that P-TEFb is required for the maturation of RNAPII, which is under the control of the paused factor NELF. My data show that NELF may serve as a "checkpoint" coupling RNAPII maturation with RNA splicing. This checkpoint may involve both dMes-4 in recruiting P-TEFb, and of NELF in preventing the release of RNAPII before its "maturation". Our data further show that NELF depletion leads to splicing defects due to the impaired recruitment of dHypB on such immature RNAPII, leading to defects in H3K36me3 deposition. As such, my work highlights a key function of the HMTs dMes-4/dHypB and of NELF-mediated RNAPII pausing in RNA maturation
Arinan, Ayca. "Direct Synthesis Of Dimethyl Ether (dme) From Synthesis Gas Using Novel Catalysts". Master's thesis, METU, 2010. http://etd.lib.metu.edu.tr/upload/3/12611490/index.pdf.
Texto completoC, at 50 bars. The activity results of the catalyst synthesized by impregnation method showed that no DME was formed over this catalyst
however it showed promising results for production of methanol and ethanol. Selectivity values of these alcohols were between 0.35 and 0.2. Formation of methane and CO2 indicated the occurrence of reverse dry reforming reaction. Incorporation of Zr into the catalyst structure at neutral synthesis condition caused significant activity enhancement, giving CO conversion values of about 40% at 400°
C. Product distribution obtained with this catalyst indicated the formation of DME, ethanol, methanol as well as CH4 and CO2. Highest DME selectivity (60%) was observed with the catalyst prepared by physical mixing of commercial methanol reforming catalyst with silicotungstic acid incorporated methanol dehydration catalyst having W/Si ratio of 0.4.
Narang, Monica Ajoo. "Expression of the human myotonic dystrophy kinase (DMK) gene in transgenic mice". Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1997. http://www.collectionscanada.ca/obj/s4/f2/dsk3/ftp04/nq26136.pdf.
Texto completoRajendran, Jaikishan. "DME/P critical area determination and its implementation on message-passing processor". Ohio : Ohio University, 1992. http://www.ohiolink.edu/etd/view.cgi?ohiou1172867327.
Texto completoGerber, James B. "A cost benefit analysis of radio frequency identification (RFID) implementation at the Defense Microelectronics Activity (DMEA)". Monterey, California. Naval Postgraduate School, 2011. http://hdl.handle.net/10945/10609.
Texto completoLakshminarayanan, Sowmya. "A FRET based high content screen identifies DMPK as a novel tether of ER and mitochondria". Doctoral thesis, Università degli studi di Padova, 2016. http://hdl.handle.net/11577/3424456.
Texto completoLa comunicazione tra organelli cellulari è una delle principali funzioni delle cellule eucariotiche e di numerosi processi di segnalazione (Bravo-Sagua et al., 2014). Uno dei cross-talk intracellulari maggiormente caratterizzati è quello tra reticolo endoplasmatico (ER) e mitocondri (Lopez-Crisosto et al., 2015). Definiti anche come “Membrane ER Associate ai Mitocondri” (MAMs), l’esistenza dei contatti tra mitocondri ed ER è stata scoperta più di 50 anni fa tramite studi di microscopia elettronica (Copeland and Dalton, 1959). Gli anni 90 videro poi il primo punto di svolta per la comprensione del significato funzionale dei MAMs quando Vance e Rizzuto et al., dimostrarono che lo scambio di fosfolipidi ed il trasferimento di ioni calcio avviene proprio nei punti di giunzione tra questi due organelli. Malgrado l’importanza di questi contatti nei processi metabolici e patologici, finora solo per poche proteine è stata descritta la funzione di mantenimentodell’integrità strutturale dei MAMsnei mammiferi (Lopez-Crisosto et al., 2015). MFN2 è stato il primo componente strutturale dei MAMs ad essere identificato. La componente di Mfn2 localizzata sulla membrana dell’ER è in grado di formare interazioni omo- ed eterotipiche con molecole di MFN2 e MFN1 presenti nella membrana mitocondriale, formando così un ponte tra i due organelli. Poiché una residua giustapposizione tra mitocondri ed ER è stata osservata anche in cellule Mfn2-/-, ne consegue che devono esistere altre molecoleancora da scoprire coinvolte nella modulazione dei contatti tra i due organelli. Abbiamo quindi voluto eseguire uno screening genomico su larga scala per identificare i componenti strutturali delle giunzioni tra mitocondri ed ER in fibroblasti embrionali murini (MEF). Per fare ciò, abbiamo sfruttato al meglio un biosensore basato sulla FRET sviluppato da Csordas et al., in cui la proteina CFP è fusa con il dominio funzionale FRB, e la proteina YFP con il dominio funzionale FKBP. Queste proteine andranno a legarsi rispettivamente all’ER (tramite la sequenza di localizzazione Sac1) ed ai mitocondri (tramite la sequenza di localizzazione Akap) (Csordas et al., 2010). Abbiamo modificato questo biosensore affinchéentrambe le molecole fluorescenti si trovassero su unico mRNA e la loro espressione fosse guidata da un singolo promotore, tramitel’introduzione tra i loro cDNA del peptide auto-catalitico Tav2a (Luke et al., 2008). Grazie ai domini di legame FKBP e FRB, che interagiscono dopo l’aggiunta di rapamicina, siamo stati in grado di misurare sia il livello basale sia il massimo livello di giustapposizione tra i due organelli. Abbiamo poi utilizzato questo biosensore così modificato per seguire uno screening genetico su larga scala in modo da identificare le molecole che avvicinano o allontanano ER e mitocondri, definite rispettivamente come “tethers” e “spacers”. Abbiamo analizzato le immagini non processate ottenute tramite lo screening e calcolato per ogni gene il numero massimo di contatti possibili. A seguito dell’analisi automatizzata delle immagini e successivamente dell’analisi statistica, effettuata utilizzando il pacchetto cellHTS2 tramite la programmazione in R,dei dati dello screening primario effettuato su ~10000 geni, abbiamo classificato il 14.4% dei geni come tethers tra ER e mitocondri (i.e., geni che una volta rimossi aumentano la distanza tra i due organelli) e il 5.3% come spacers (i.e., geni che una volta rimossi diminuiscono la distanza tra i due organelli). L’analisi dei processi cellulari in cui questi geni risultano coinvolti tramite i programmi Reactome ePanther ha evidenziato sia pathways già noti sia altri che devono ancora essere esplorati in termini di comunicazione tra mitocondri ed ER. L’analisi della localizzazione subcellulare delle proteine classificate come “tethers” ha rivelato otto proteine per cui è stata predetta la localizzazione sia all’ER sia nella membrana mitocondriale esterna (OMM). Una di queste otto proteine è DMPK (myotonicdystrophyproteinkinase), abbiamo quindi ulteriormente caratterizzato come DMPK tether tra ER e mitocondri. DMPK risulta mutata nella distrofia miotonica 1 (DM1) (Cho and Tapscott, 2007). Questa proteina presenta sei isoforme note dovute asplicing alternativo sia nell’uomo sia nel topo (Wansink et al., 2003). Il ruolo di DMPK nella distrofia miotonica non è ancora completamente chiarito, in quanto il modello animale KO per questo gene sviluppa tardivamente miopatia e disfunzioni cardiache contrattili (Reddy et al., 1996). La localizzazione subcellulare delle varie isoformeè stata riportata ai mitocondri o all’ER, tuttavia molta meno enfasi è stata data alla sua rilevanza funzionale. In conclusione, abbiamo sviluppato un nuovo metodo per determinare la prossimità tra ER e mitocondri ed abbiamo utilizzato questa tecnologia in uno screening genetico su larga scala per identificare nuovi componenti strutturali che regolano i contatti tra i due organelli. I dati ricavati da questo screening mettono in evidenza anche molti processi cellulari in cui le giunzioni tra mitocondri ed ER erano state implicate, ma il loro ruolo non è stato ancora completamente compreso. Le molecole identificate tramite il nostro screen aiuteranno quindi a svelare i componenti molecolari in questi pathways cellulari.
Rodrigues, Luiza Paulsen. "Identificação e avaliação da distribuição alélica de repetições do trinucleotídeo CTG no gene DMPK em indivíduos saudáveis e em pacientes com distrofia miotônica tipo 1". reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2016. http://hdl.handle.net/10183/158225.
Texto completoThe human DMPK (Dystrophia Myotonica-Protein Kinase) gene is located at 19q13.3 locus, being organized into 15 exons, with a polymorphic tract of CTG repeats in its 3' untranslated region. Normal individuals have 5-34 CTG repeats. Individuals carrying alleles with more than 50 CTG repeats have myotonic dystrophy type 1 (DM1), a multisystemic disease of autosomal dominant inheritance. Symptoms include myotonia, progressive muscle weakness, hypogonadism, among others. Disease prevalence is variable among populations and may be related to the frequency of large normal alleles (those with more than 18 CTG repeats). Here we determined here the distribution of alleles of DMPK gene in healthy and DM1 patients in Brazilian and Peruvian populations, through conventional PCR using fluorescent primers and repeat-primed PCR. This protocol confirmed 93 unrelated cases of DM1 (76 Brazilians and 17 Peruvians) following the analysis of 224 samples with clinical suspicion. Distribution and frequencies of normal alleles were also established in both populations and the most frequent alleles were 5 (frequency of 0.326) and 13 (frequency of 0.545) CTG repeats in Brazilians and Peruvians, respectively. Frequency of large normal alleles (those with more than 45 CTG repeats) was established to be 9% and 4% in Brazilians and Peruvians, respectively. This report describes molecular analysis of DM1 in the largest Brazilian cohort so far, and is the first to report any data in the Peruvian population. Distribution and frequency of normal alleles were also established and mutable alleles were detected among controls.
O'Reilly, Sean W. P. "RNAi Screening of the Kinome Identifies PACT as a Novel Genetic Modifier of Foci Integrity in Myotonic Dystrophy type 1". Thèse, Université d'Ottawa / University of Ottawa, 2014. http://hdl.handle.net/10393/30639.
Texto completoChen, Mingqing. "Interactions between multi-kinase inhibitors and solute carrier transporters". The Ohio State University, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=osu1585741410361704.
Texto completoKrejčí, Jan. "Optimalizace sítě pozemních radionavigačních prostředků zabezpečení RNAV ve FIR Praha". Master's thesis, Vysoké učení technické v Brně. Fakulta strojního inženýrství, 2014. http://www.nusl.cz/ntk/nusl-231086.
Texto completoSeo, Kangwoo. "Experimental investigation of DME assisted gasoline CAI combustion with re-breathing valve strategy". Thesis, Brunel University, 2015. http://bura.brunel.ac.uk/handle/2438/12194.
Texto completoDhakal, Pashupati. "Angular Magnetoresistance Oscillations in the Molecular Organic Conductor (DMET)2I3: Experiment and Calculation". Thesis, Boston College, 2010. http://hdl.handle.net/2345/1566.
Texto completoQuasi-one dimensional (Q1D) molecular organic conductors are among the most exciting materials in condensed matter physics, exhibiting nearly every known ground state. They are highly anisotropic, structurally and electronically, and show large oscillatory phenomena in conductivity for magnetic field rotated in different crystalline planes. Several theoretical works have been published to explain these angular magnetoresistance oscillation (AMRO) effects, but the underlying physics remains illunderstood. Here, we present measurements and calculations of magnetotransport in the molecular organic (super)conductor (DMET)2I3 which detect and simulate all known AMRO phenomena for Q1D systems. Employing, for the first time, the true triclinic crystal structure in the calculations, these results address the mystery of the putative vanishing of the primary AMRO phenomenon, the Lebed magic angle effect, for orientations in which it is expected to be strongest. They also show a common origin for Lebed and so-called "Lee-Naughton" oscillations, and confirm the generalized nature of AMRO in Q1D systems. Furthermore, we report the temperature dependence of the upper critical magnetic field in (DMET)2I3, for magnetic field applied along the intrachain, interchain, and interplane directions. The upper critical field exhibits orbital saturation at low temperature for field in all directions, implying that superconductivity in (DMET)2I3 is conventional spin singlet
Thesis (PhD) — Boston College, 2010
Submitted to: Boston College. Graduate School of Arts and Sciences
Discipline: Physics
García, Trenco Andrés. "Desarrollo de catalizadores híbridos CuZnOAl2O3/zeolita para el proceso de síntesis directa de DME". Doctoral thesis, Universitat Politècnica de València, 2014. http://hdl.handle.net/10251/34781.
Texto completoGarcía Trenco, A. (2013). Desarrollo de catalizadores híbridos CuZnOAl2O3/zeolita para el proceso de síntesis directa de DME [Tesis doctoral no publicada]. Universitat Politècnica de València. https://doi.org/10.4995/Thesis/10251/34781
TESIS
Ahmad, Ruaa [Verfasser] y Manfred [Akademischer Betreuer] Döring. "Katalysatorsynthese umd -optimierung für die DME-Direktsynthese aus CO-reichem Synthesegas / Ruaa Ahmad ; Betreuer: Manfred Döring". Heidelberg : Universitätsbibliothek Heidelberg, 2014. http://d-nb.info/1177811383/34.
Texto completoPhotinon, Kanokorn. "DEVELOPMENT OF DIMETHYL ETHER (DME) AND CARBON DIOXIDE SENSORS USING PLATINUM NANOPARTICLES AND THICK FILM TECHNOLOGY". Case Western Reserve University School of Graduate Studies / OhioLINK, 2007. http://rave.ohiolink.edu/etdc/view?acc_num=case1164899809.
Texto completoJiang, Qian. "Direct dimethyl ether synthesis from CO2/H2". Thesis, Strasbourg, 2017. http://www.theses.fr/2017STRAF041/document.
Texto completoDME is a clean fuel that helps to diminish the emissions of green house gases; it is as well a platform molecule for the energy storage. The objective of the thesis is the development of bifunctional catalytic materials for the direct DME synthesis from CO2/H2 based on Cu/ZnO/ZrO2 as the methanol synthesis from CO2/H2 catalyst and Al-TUD-1 as the methanol dehydration to DME catalyst. In this thesis, Al-TUD-1 was investigated as the methanol dehydration to DME catalyst for the first time. The methanol dehydration to DME performance increases with the decrease of Si/Al ratio. The bifunctional catalysts were prepared by co-precipitation deposition method. The SMSI was demonstrated and was beneficial for the metallic copper dispersion, the metallic copper surface area increases with the Si/Al ratio. In the same time the blockage of acid sites of Al-TUD-1 by copper was observed. In order to expose the acid sites of Al-TUD-1, the core shell method was adopted to prepare the bifunctional catalyst. It helps to free the acid function preventing its blockage by copper. This method of synthesis was beneficial for the stability of metallic copper particles, but performed low conversions of CO2/H2 due to the inaccessibility of the core. Another bifunctional catalyst was prepared by physically mixing method for comparison. The optimization of the bifunctional Cu/ZnO/ZrO2@Al-TUD-1 catalyst for the direct DME synthesis from CO2/H2 allowed enlightening the main parameters that affect the intimate contact of two catalytic functions: copper surface area and dispersion, acid and basic properties, water presence and the accessibility of the active sites for the reactants
Ding, Hao. "Facility separation criteria development and enhancement for directive Distance Measuring Equipment (DME) in the national airspace system". Ohio University / OhioLINK, 1998. http://rave.ohiolink.edu/etdc/view?acc_num=ohiou1176835681.
Texto completoGodavarthi, Bhavya Sree. "A Computational Study on the Effect of Injection Strategy on Emissions in a DME Fueled CI Engine". University of Akron / OhioLINK, 2015. http://rave.ohiolink.edu/etdc/view?acc_num=akron1449077797.
Texto completoLee, Seungcheol [Verfasser] y R. [Akademischer Betreuer] Dittmeyer. "Novel bifunctional double-layer catalysts for application in microreactors for direct DME synthesis / Seungcheol Lee. Betreuer: R. Dittmeyer". Karlsruhe : KIT-Bibliothek, 2016. http://d-nb.info/1082294624/34.
Texto completoKakourou, G. "Protocol development for analysis of the DMPK repeat in preimplantation genetic diagnosis and the investigation of gene expression in human oocytes and blastocysts". Thesis, University College London (University of London), 2009. http://discovery.ucl.ac.uk/18763/.
Texto completoKruger, Stephan J. "Validation of the precision distance measuring equipment (DME/P) module of the baseline microwave landing system (MLS) mathematical model". Ohio : Ohio University, 1993. http://www.ohiolink.edu/etd/view.cgi?ohiou1175711926.
Texto completoHaubeil, J. Jeffrey. "Operational viability of a directive distance measuring equipment (DME) antenna in a national airspace system (NAS) approach and landing environment". Ohio : Ohio University, 1996. http://www.ohiolink.edu/etd/view.cgi?ohiou1178311788.
Texto completoMerten, Charlotte Caroline [Verfasser]. "Analyse der Genexpression von humanen Stro-1-positiven Zahnkeim- und Beckenkammzellen in DME-Medium und osteogenem Differenzierungsmedium / Charlotte Caroline Merten". Göttingen : Niedersächsische Staats- und Universitätsbibliothek Göttingen, 2020. http://d-nb.info/1217062726/34.
Texto completoZiat, Esma. "Emery-Dreifuss muscular dystrophy-associated FHL1 gene mutations : study of molecular and functional consequences in skeletal muscle". Thesis, Paris 6, 2015. http://www.theses.fr/2015PA066455.
Texto completoEmery-Dreifuss muscular dystrophy (EDMD) is characterized by the triad of early contractures, slowly progressive muscle wasting and weakness, and cardiac disease. Mutations in EMD and LMNA, encoding for the nuclear envelope (NE) proteins emerin and lamin A/C, are associated with X-linked and autosomal form of EDMD, respectively. The discovery that FHL, encoding FHL1A, FHL1B and FHL1C, is implicated in the pathogenesis of EDMD, raises the question of how a non-NE protein can be linked to emerin and lamin A/C. We aimed to provide knowledge of the subcellular distribution and expression of the various FHL1 isoforms in healthy and diseased human skeletal muscle. We found that FHL1 isoforms display a dual cytoplasmic and nuclear localization in human myoblasts. In addition, FHL1B strongly accumulated at the NE where it interacted with both lamin A/C and emerin. NE localization of FHL1B was independent of emerin and lamin A/C expression. Myoblast differentiation resulted in greatly reduced FHL1B protein expression and in the progressive nuclear exclusion of FHL1 protein isoforms. We have shown that chromosome region maintenance 1 (CRM1)-mediated nuclear export was not involved in the progressive decrease of nucleoplasmic FHL1B. Finally, we detected increased FHL1B protein levels in myoblasts of two patients with LMNA- and FHL1-related EDMD. Altogether, the specific localization of FHL1B and its modulation in disease-patient’s myoblasts confirmed FHL1-related EDMD as a NE disease
Neji, Najett. "Etude de la compatibilité radioélectrique du futur système de communication aéronautique en bande L". Phd thesis, Supélec, 2011. http://tel.archives-ouvertes.fr/tel-00825251.
Texto completoSchedin, Niclas. "Alternativa Drivmedel som Enhetsdrivmedel". Thesis, Försvarshögskolan, 2013. http://urn.kb.se/resolve?urn=urn:nbn:se:fhs:diva-3982.
Texto completoFossil fuels currently account for the vast majority of the total amount of fuel that isconsumed globally every day. Alternatives to fossil fuels are needed to ensuresufficient supply in the future. The Swedish Armed Forces have been tasked by theGovernment to investigate and examine the possibility of operating their vehicles onrenewable fuels.Military organizations strive for the use of a single fuel concept. A single fuel conceptmeans that only one kind of fuel is used in all vehicles and machines. The majorreason for this is the simplified logistics that can be achieved if only one fuel is used.This paper has sought an alternative fuel that can also be used as a single fuel in theSwedish Armed Forces. In order to solve the problem of changing to a renewable andto a single fuel in one single step.The main conclusion drawn in this paper is that Fischer-Tropsch fuels have thepotential to be a single fuel from a technical perspective. The high flashpoint ofFischer-Tropsch fuels could mean that they might also be used in navy vessels.However, there is currently insufficient availability and production is in thedevelopment stages.
Ginai, Maaria. "Incorporating primary human renal proximal tubule cells into a hollow fibre bioreactor in the development of an in vitro model for pharmaceutical research". Thesis, Loughborough University, 2015. https://dspace.lboro.ac.uk/2134/20110.
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