Auswahl der wissenschaftlichen Literatur zum Thema „Mutation gain de fonction“
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Zeitschriftenartikel zum Thema "Mutation gain de fonction"
TIXIER-BOICHARD, M. „Polymorphismes moléculaires et phénotypes“. INRAE Productions Animales 13, HS (22.12.2000): 55–61. http://dx.doi.org/10.20870/productions-animales.2000.13.hs.3811.
Der volle Inhalt der QuelleLemetayer, N., J. Bouligand, J. Young und I. Beau. „Analyse du phénotype de souris mâles avec mutation gain de fonction homologue du LHCGR“. Annales d'Endocrinologie 84, Nr. 5 (Oktober 2023): 528. http://dx.doi.org/10.1016/j.ando.2023.07.072.
Der volle Inhalt der QuelleLe Scornet, T., T. Guimard, C. Picard und A. Néel. „Un champignon peut en cacher d’autres : à propos d’une mutation gain de fonction STAT1“. La Revue de Médecine Interne 44 (Juni 2023): A218. http://dx.doi.org/10.1016/j.revmed.2023.04.170.
Der volle Inhalt der QuelleDereure, O. „Myofibromatose infantile sporadique : mutations avec gain de fonction de PDGFRB“. Annales de Dermatologie et de Vénéréologie 144, Nr. 8-9 (August 2017): 574–75. http://dx.doi.org/10.1016/j.annder.2017.05.010.
Der volle Inhalt der QuelleOlivier, Nicolas C., Fanny Morice-Picard, Franck Boralevi, Jean-Christophe Fricain und Marie-Sylvie Doutre. „Traitement par ruxolitinib d’un patient présentant une candidose cutanéo-muqueuse chronique avec mutation gain de fonction de STAT1“. Annales de Dermatologie et de Vénéréologie - FMC 1, Nr. 8 (Dezember 2021): A91. http://dx.doi.org/10.1016/j.fander.2021.09.497.
Der volle Inhalt der QuelleDossou, E., R. Jouenne, C. Picard, B. Neven, J. Hadjadj, A. Fayand, M. Michel und E. Crickx. „Survenue d’une prolifération LGL chez une patiente avec un DICV : une mutation gain de fonction de STAT3 en cause“. La Revue de Médecine Interne 41 (Dezember 2020): A132. http://dx.doi.org/10.1016/j.revmed.2020.10.221.
Der volle Inhalt der QuelleKhamyath, Mélanie, Amélie Bonaud, Karl Balabanian und Marion Espéli. „La signalisation de CXCR4, un rhéostat de la réponse immunitaire à médiation humorale“. médecine/sciences 39, Nr. 1 (Januar 2023): 23–30. http://dx.doi.org/10.1051/medsci/2022192.
Der volle Inhalt der QuelleOtiniano, A., J. Gottlieb, C. Picard und O. Lambotte. „Diagnostic à l’âge adulte d’un déficit immunitaire primitif avec candidose récurrente : la mutation « gain de fonction » du gène STAT 1“. La Revue de Médecine Interne 42 (Juni 2021): A129. http://dx.doi.org/10.1016/j.revmed.2021.03.083.
Der volle Inhalt der QuelleBaghad, B., I. Benhsaien, F. Z. El Fatoiki, M. Migaud, A. Puel, S. Chiheb, A. A. Bousfiha und F. Ailal. „Candidose cutanéo-muqueuse chronique avec mutation gain-de-fonction du gène STAT1 associée à des infections herpétiques et à mycobactérie“. Annales de Dermatologie et de Vénéréologie 147, Nr. 1 (Januar 2020): 41–45. http://dx.doi.org/10.1016/j.annder.2019.09.597.
Der volle Inhalt der QuelleScard, C., C. Thomas, A. Puel, B. Vabres, H. Aubert und S. Barbarot. „Dermatoses faciales chroniques de type rosacée chez des enfants porteurs d’un déficit immunitaire primitif par mutation de gain de fonction STAT1“. Annales de Dermatologie et de Vénéréologie 145, Nr. 12 (Dezember 2018): S204—S205. http://dx.doi.org/10.1016/j.annder.2018.09.297.
Der volle Inhalt der QuelleDissertationen zum Thema "Mutation gain de fonction"
Berrabah, Sofia. „Etude de nouvelles cibles thérapeutiques dans les lymphomes compliquant la maladie cœliaque“. Electronic Thesis or Diss., Université Paris Cité, 2021. http://www.theses.fr/2021UNIP5201.
Der volle Inhalt der QuelleRefractory coeliac disease type II (RCDII), also called intraepithelial lymphoma, is a rare but severe complication of coeliac disease characterized by the clonal expansion of a small subset of innate intraepithelial lymphocytes (IEL), present in the normal human and murine intestine. Our lab has shown that this population displays shared features between T and natural killer (NK) cells. These so-called iCD3+ innate IEL are mainly characterized by intracellular expression of CD3, which is not detected at the cell surface, expression of NK receptors as well as DNA rearrangement of T cell receptor genes. Our lab has also shown that iCD3+ innate IEL originate from bone marrow precursors through coordinated NOTCH1 and interleukin (IL)-15 signals. During lymphomagenesis, iCD3+ innate IEL of most RCDII patients were shown to have acquired somatic gain-of-function mutations in JAK1 and/or STAT3 that confer increased sensitivity to interleukin-15, a cytokine overexpressed in the intestine of coeliac patients, thereby promoting their clonal expansion. Thus, our hypothesis is that JAK1/STAT3 mutations play a key role in initiating lymphomagenesis associated to coeliac disease in an IL-15-rich environment and that they could represent an attractive therapeutic target.The first objective of my thesis was to study the interest of JAK/STAT inhibitors for RCDII treatment. First, we have tested in vitro different JAK/STAT inhibitors on IL-15-dependent RCDII or normal IEL-T cell lines. We have shown that these inhibitors decrease the proliferation and phosphorylation of STAT3 and increase cellular apoptosis in both RCDII and normal T cell lines. Secondly, we have established a xenograft model based on the injection of cells derived from biopsy or blood from one RCDII patient into immunodeficient mice overexpressing the human IL-15 transgene in their gut epithelium (Rag-/-Gc-/- IL-15TgE; IRGC) to test the efficacy of JAK/STAT inhibitors in vivo. Treatment of xenografted mice with ruxolitinib, a potent inhibitor of JAK1/JAK2 decreased the frequency, number and cytotoxic potential of human tumoral cells and allowed clinical restoration. These preliminary results are encouraging but need to be confirmed. The second objective of my thesis was to test whether the Stat3 pD661V mutation is sufficient to induce the intraepithelial lymphoma in an IL-15-rich context in IRGC mice. We have successfully generated murine iCD3+ innate IEL in vitro, resembling their human counterparts from common lymphoid precursors by combining NOTCH and IL-15 signals. We then transduced CLP with a retroviral vector containing wild-type or mutated Stat3 pD661V. The transduced cells were injected into IRGC mice that subsequently were followed-up during a period of 8 weeks. In vitro generated iCD3+ innate IEL preferentially homed to the intestine. However, no development of intraepithelial lymphoma was observed suggesting that the Stat3 pD661V variant alone is not sufficient to induce the intraepithelial lymphoma. These preliminary results need to be reproduced and confirmed. The murine model used to test the role of STAT3 will now be used to evaluate the respective contribution of canonical mutations in JAK1 and STAT3 and of other recurrent mutations identified in RCDII
Plaud, Clément. „Mécanismes moléculaires et cellulaires des paraplégies spastiques héréditaires liées aux mutations du gène SPG4 : haploinsuffisance VS gain de fonction pathologique“. Thesis, Université Paris-Saclay (ComUE), 2017. http://www.theses.fr/2017SACLE037/document.
Der volle Inhalt der QuelleCentral motor neurons are specialized cells involved in the control of voluntary movements in human. The transmission of information along the axon of these neurons is comparable to car trafficking in a highway: information travel in both direction and sometimes traffic jam events occur. When the transit of information are slowed or impaired, patients may suffer of neurodegenerative diseases as hereditary spastic paraplegia (HSPs). In this thesis we investigated the role of spastin, a protein implicated in HSP and the maintenance of these highways. Our results showed that depletion of spastin, or expression of its mutants, lead to a disturbance of both the integrity of these « road » and the traffic of cellular components primary involved in axonal survival and growth. These results would help to elucidate the pathophysiological mechanisms implicated in the onset of this pathology and maybe in developing proficient therapeutic strategy for HSP patients
Jiang, Dadi. „Analysis of a p53 Gain-of-function Mutation in Transgenic Mouse Salivary Tumors“. VCU Scholars Compass, 2007. http://scholarscompass.vcu.edu/etd_retro/103.
Der volle Inhalt der QuelleLartigau, Jérôme. „Le contrôle de gestion à l’heure des réformes hospitalières : une fonction en mutation ?“ Thesis, Montpellier 1, 2010. http://www.theses.fr/2010MON10036/document.
Der volle Inhalt der QuelleCaught between a continuous rise in spending and a stagnation of their financial resources, public hospitals have long been faced with a problem of managing scarcity. To address this problem, many of them have implemented management control, with the difficulties of such an approach in an organization traditionally described as "professional." From the beginning mainly oriented toward expenditure control, management control in hospitals is undergoing a deep challenge with the advent of prospective payment system and the implementation of clinical directorates. Now the management control function should no longer be confined to this role which was traditionally recognized, but must actively contribute to the enhancement of the hospital's revenue. This new dynamics - which gives greater importance to fundamental concepts of management control - is innovative because of the importance it gives to producers of medical activity. The mutation of the management control function in the hospital sector is a major phenomenon for practitioners but is also particularly from a theoretical point of view. It challenges the traditionally accepted representations of management control in the hospital organization and gives an opportunity for researchers to use new theoretical frames
Alouche, Nagham. „Impact d’un gain de fonction de CXCR4 sur la différenciation et la biologie plasmocytaire“. Thesis, Université Paris-Saclay (ComUE), 2018. http://www.theses.fr/2018SACLS450.
Der volle Inhalt der QuelleCXCR4 plays an essential role in B cell development and controls partially plasma cell (PCs) homing to the bone marrow (BM). Heterozygous gain-of-function mutations of CXCR4 affecting its desensitization in response to the chemokine CXCL12 have been reported in a severe immune-deficiency disorder called WHIM syndrome (WS) and recently identified in Waldenström’s macroglobulinemia (WM), a B lympho-plasmacytoma characterized by the expansion of proliferative clonal malignant lymphoplasmacytic cells which secrete IgM Abs and mainly persist in the BM. Here we used a unique knock-in mice harboring the mutation Cxcr4+/1013 previously described in patients to assess how a gain-of-Cxcr4-function impacts PC biology and antibody (Ab) production. Following vaccination, WS patients mount a normal immune response but fail to maintain Ab titers over time. Therefore, the first part of my PhD was focused on studying the T-dependent humoral response in Cxcr4+/1013 mice. We showed that a strong reduction of antigen (Ag)-specific long-lived PCs in the BM of Cxcr4+/1013 mice could be the cause of the defective maintenance of Ab titers. Moreover, an aberrant accumulation of extra-follicular (EF) derived immature plasmablasts (PBs) was observed in this tissue potentially hampering the homing or maintenance of the Ag-specific PCs. Interestingly, in WM, mutations of CXCR4 are systematically associated with MYD88 mutations. Thus, the second part of my PhD focused on the study of the MyD88-dependent response in Cxcr4+/1013 mice. We showed that the Cxcr4 gain of function led to an increased cell cycle entry of splenic B cells that was associated with an enhanced PC differentiation. Finally, our findings showed that the desensitization of Cxcr4 is an essential break limiting the EF response as well as PC differentiation and maturation and suggest that an accumulation of mutated PB in the BM is not only due to the gain of function of Cxcr4 but to a more global change in the migratory code of these cells controlled by the exacerbated Cxcr4/Cxcl12 signaling
Verleyen, Stijn. „Fonction, forme et variation : analyse métathéorique de trois modèles du changement phonique au XXe siècle, 1929-1982 /“. Leuven ; Paris ; Dudley : Ma : Peeters, 2008. http://catalogue.bnf.fr/ark:/12148/cb414383627.
Der volle Inhalt der QuelleMorin, Denis. „Le récepteur V2 humain de la vasopressine : perte de fonction et gain de fonction. Du Diabète Insipide Néphrogénique à un récepteur V2 constitutivement actif“. Montpellier 1, 1999. http://www.theses.fr/1999MON1T007.
Der volle Inhalt der QuelleBiajoux, Vincent. „Impact d’un gain de fonction de Cxcr4 sur le développement et la compartimentalisation périphérique des lymphocytes“. Thesis, Paris 11, 2013. http://www.theses.fr/2013PA114825/document.
Der volle Inhalt der QuelleThe WHIM Syndrome (WS) is a rare combined immuno-hematological disorder caused by inherited heterozygous autosomal dominant mutations in CXCR4, which result in most cases in the distal truncation of the receptor’s Carboxyl-terminal tail (C-Tail). Mutants of CXCR4 associated with WS display impaired desensitization and internalization of the receptor upon CXCL12 exposure, leading to enhanced migratory response. Because CXCR4 is expressed on leukocytes, we hypothesized that circulating pan-leukopenia could arise from altered CXCR4-mediated signalling that would skew tissue distribution and differentiation of leukocytes. This assumption was obviously difficult to address in patients. By generating a knock-in mouse strain (Cxcr4+/1013) that harbors a WS-linked gain-of-Cxcr4-function mutation, we establish that the C-tail domain in Cxcr4-mediated signalling is a pivotal regulator of lymphocyte development, peripheral trafficking and humoral immunity. The essential findings of our work, obtained by combining biochemical, bone marrow (BM)-mixed chimeras, in vivo labelling, adoptive co-transfers and functional approaches, are: 1) the C-tail truncating Cxcr41013 mutation caused differential signalling capacities depending on its heterozygous versus homozygous status and inhibited double-negative (DN) 2-to-DN3 and pro-B-to-pre-B developmental transitions during lymphopoiesis. In contrast, it had no effect on NK lymphopoiesis and granulopoiesis; 2) the resulting circulating B and T lymphopenia was due to hematopoietic cell-intrinsic defects and followed a mutated allele dose-dependent pattern; 3) impaired Cxcr41013 desensitization prevented the release of immature BM NK and B cells and mature lymph node (LN) B and T lymphocytes into the blood. Conversely, it forced homing and retention of mature recirculating B and T cells in the BM parenchyma; and 4) despite the absence of primary B-cell follicles in LNs, mutant mice produced efficient humoral responses upon immunization as illustrated by increased antigen-specific germinal center B cells and isotype-switched plasma cells. Collectively, our findings demonstrate that fine-tuning of Cxcr4 signal strength is required for optimal trafficking, egress and fitness of lymphocytes
Bouis, Delphine. „Etude des conséquences d’un gain de fonction de Sting chez la souris : modèle STING V154M/WT“. Thesis, Strasbourg, 2018. http://www.theses.fr/2018STRAJ063.
Der volle Inhalt der QuelleIn humans, point mutations in STING gene, such as V155M, lead to a severe autoinflammatory disease called SAVI (Sting associated vasculopathy with onset in infancy), classified as interferonopathy and characterized by vasculopathy, pulmonary fibrosis and a lupus-like pathology. In order to better understand the pathophysiology of SAVI, we generated a mouse model with the corresponding mutation, using CRISPR/Cas9 technology. These STING V154M/WT mice develop a SCID (severe combined immunodeficiency disease) with decrease of peripheral T, B and NK cells, and expansion of myeloid compartment. This defect seems to be present since the early stages, i.e. pre-proB cells stage in bone marrow and DN2 stage in thymus, and seems intrinsic to hematopoiectic cells. In addition, these mice present a strong hypogammaglobulinemia. Mature T and B cells also present intrinsic defaults. Finally, these mice present an IFN signature but their phenotype is independent of the IFN pathway. These results highlight an important role of STING in lymphoid development
Pronier, Elodie. „Etude de la fonction de TET2 dans l'hématopoïese normale et pathologique“. Paris 7, 2013. http://www.theses.fr/2013PA077035.
Der volle Inhalt der QuelleMyeloid malignancies are clonal disease of the hematopoietic stem cell develop following a skewed of the differentiation toward myeloid lineages associated with increased proliferation. Recently, many studies have demonstrated the involvement epigenetic factors in malignant transformation. Indeed, DNA sequencing of patients with diverse malignancies identified mutations in TET2 (TET methylcytosïne dioxygenase 2) gene. This gene encodes an enzyme that couverts 5-methylcytosines to 5-hydroxyméthylcytosines (5hmC). The biological impact of this new modification of DNA bases and the TET protein function during hematopoiesis is poorly understood. The objectives of my thesis were to determine the function(s) of TET2 in human hematopoiesis and involvement in malignant transformation. My results confirmed in the cells from MPN patients that TET2 mutation induces a decrease in the overall rate of 5hmC. Then we hâve shown that TET2 haploinsufficiency after infection of CD34+ using a specific shRNA induces differentiation skewed toward myeloid lineage. This haploinsufficiency also affects the terminal stages of myeloid three lineages. We also demonstrated that TET2 inhibition induces expression of several inflammatory cytokines such as MIF (Macrophage Migration Inhibitory Factor}. TET2 binds to it promoter regions and influence their transcription through the recruitment of EGR1 and active polymerase II. Finally, haploinsufficiency of TET2 induces a selective advantage of CD34+ cells for reconstitution of the hematopoietic System of highly immunodeficient mice. TET2 is involved in several steps of tumor transformation but these functions factor transcription remain poorly understood
Bücher zum Thema "Mutation gain de fonction"
Ontario. Esquisse de cours 12e année: Sciences de l'activité physique pse4u cours préuniversitaire. Vanier, Ont: CFORP, 2002.
Den vollen Inhalt der Quelle findenOntario. Esquisse de cours 12e année: Technologie de l'information en affaires btx4e cours préemploi. Vanier, Ont: CFORP, 2002.
Den vollen Inhalt der Quelle findenOntario. Esquisse de cours 12e année: Études informatiques ics4m cours préuniversitaire. Vanier, Ont: CFORP, 2002.
Den vollen Inhalt der Quelle findenOntario. Esquisse de cours 12e année: Mathématiques de la technologie au collège mct4c cours précollégial. Vanier, Ont: CFORP, 2002.
Den vollen Inhalt der Quelle findenOntario. Esquisse de cours 12e année: Sciences snc4m cours préuniversitaire. Vanier, Ont: CFORP, 2002.
Den vollen Inhalt der Quelle findenOntario. Esquisse de cours 12e année: English eae4e cours préemploi. Vanier, Ont: CFORP, 2002.
Den vollen Inhalt der Quelle findenOntario. Esquisse de cours 12e année: Le Canada et le monde: une analyse géographique cgw4u cours préuniversitaire. Vanier, Ont: CFORP, 2002.
Den vollen Inhalt der Quelle findenOntario. Esquisse de cours 12e année: Environnement et gestion des ressources cgr4e cours préemploi. Vanier, Ont: CFORP, 2002.
Den vollen Inhalt der Quelle findenOntario. Esquisse de cours 12e année: Histoire de l'Occident et du monde chy4c cours précollégial. Vanier, Ont: CFORP, 2002.
Den vollen Inhalt der Quelle findenOntario. Esquisse de cours 12e année: Géographie mondiale: le milieu humain cgu4u cours préuniversitaire. Vanier, Ont: CFORP, 2002.
Den vollen Inhalt der Quelle findenBuchteile zum Thema "Mutation gain de fonction"
Das, Priyanka, Rajeev N. Bahuguna, Rohit Joshi, Sneh Lata Singla-Pareek und Ashwani Pareek. „In search of mutants for gene discovery and functional genomics for multiple stress tolerance in rice.“ In Mutation breeding, genetic diversity and crop adaptation to climate change, 444–50. Wallingford: CABI, 2021. http://dx.doi.org/10.1079/9781789249095.0045.
Der volle Inhalt der QuelleCorne, David W., Martin J. Oates und Douglas B. Kell. „On Fitness Distributions and Expected Fitness Gain of Mutation Rates in Parallel Evolutionary Algorithms“. In Parallel Problem Solving from Nature — PPSN VII, 132–41. Berlin, Heidelberg: Springer Berlin Heidelberg, 2002. http://dx.doi.org/10.1007/3-540-45712-7_13.
Der volle Inhalt der QuelleBrandão, Maíra Pontual, Elaine Maria Frade Costa, Maki Fukami, Mariza Gerdulo, Natalia P. Pereira, Sorahia Domenice, Tsutomu Ogata und Berenice B. Mendonca. „MAMLD1 (Mastermind-Like Domain Containing 1) Homozygous Gain-of-Function Missense Mutation Causing 46,XX Disorder of Sex Development in a Virilized Female“. In Advances in Experimental Medicine and Biology, 129–31. New York, NY: Springer New York, 2011. http://dx.doi.org/10.1007/978-1-4419-8002-1_28.
Der volle Inhalt der Quelle„Gain-of-Function Mutation“. In Encyclopedia of Cancer, 1489. Berlin, Heidelberg: Springer Berlin Heidelberg, 2011. http://dx.doi.org/10.1007/978-3-642-16483-5_2303.
Der volle Inhalt der QuelleAllendorf, Fred W., W. Chris Funk, Sally N. Aitken, Margaret Byrne und Gordon Luikart. „Mutation“. In Conservation and the Genomics of Populations, 253–68. Oxford University Press, 2022. http://dx.doi.org/10.1093/oso/9780198856566.003.0012.
Der volle Inhalt der QuelleBrochier, Damien, und Nathalie Quintero. „20 - Encadrant courrier : une fonction en pleine mutation“. In Les professions intermédiaires, 259. Armand Colin, 2013. http://dx.doi.org/10.3917/arco.guit.2013.01.0259.
Der volle Inhalt der QuelleSquverer, Amos. „La psychologie clinique au défi des symptômes contemporains“. In La psychologie clinique au défi des symptômes contemporains, 25–40. In Press, 2018. http://dx.doi.org/10.3917/pres.vavas.2018.01.0026.
Der volle Inhalt der QuelleMiraoui, Hichem, Kimberly W. Keefe, Gerasimos Sykiotis, Lacey Plummer, Taneli Raivio, Andrew A. Dwyer, Yisrael Sidis, Pei Tsai, Moosa Mohammadi und Nelly Pitteloud. „Gain-of-Function Mutation in FGFR1 in Human GnRH Deficiency“. In TRANSLATIONAL - Genetics & Epigenetics in GnRH Regulation, OR05–4—OR05–4. The Endocrine Society, 2011. http://dx.doi.org/10.1210/endo-meetings.2011.part1.or6.or05-4.
Der volle Inhalt der QuelleDo, Marine. „Chapitre 7. Fonction de tuteur : continuité, transformation ou mutation du processus de professionnalisation“. In Accompagner le changement dans le champ de la santé, 97–111. Vuibert, 2015. http://dx.doi.org/10.3917/vuib.basti.2015.01.0097.
Der volle Inhalt der QuelleKasim, Nader, Antoinette Moran und Amir Moheet. „Case 37: “Do I Really Need Insulin?” The Role of Insulin Therapy in Cystic Fibrosis–Related Diabetes (CFRD)“. In Diabetes In Practice: Case Studies with Commentary, 155–57. American Diabetes Association, 2021. http://dx.doi.org/10.2337/9781580407663.37.
Der volle Inhalt der QuelleKonferenzberichte zum Thema "Mutation gain de fonction"
Peeters, Janneke GC, Stephanie Silveria, Merve Ozdemir, Grigorios Georgolopoulos und Michel DuPage. „951 An Ezh2 gain of function mutation gives regulatory T cells a gain of function“. In SITC 38th Annual Meeting (SITC 2023) Abstracts. BMJ Publishing Group Ltd, 2023. http://dx.doi.org/10.1136/jitc-2023-sitc2023.0951.
Der volle Inhalt der QuelleLin, Jie, Youyan Guo, Zuo Wang, Fengru Shi, Ya Yang, Qiang Yong, Xiaodong Pan, Zhisheng Jiang und Luya Wang. „R306S gain-of-function mutation enhances PCSK9-mediated lowering of LDL-R expression“. In 2011 4th International Conference on Biomedical Engineering and Informatics (BMEI). IEEE, 2011. http://dx.doi.org/10.1109/bmei.2011.6098587.
Der volle Inhalt der QuelleJung, Seunghwan, Sejoon Lee, Sangwoo Kim und Hojung Nam. „Identification of Genomic Features in the Classification of Loss- and Gain-of-Function Mutation“. In the ACM 8th International Workshop. New York, New York, USA: ACM Press, 2014. http://dx.doi.org/10.1145/2665970.2665977.
Der volle Inhalt der QuelleBrockmann, Knut, Renate Brackmann, Angela Abicht, Ingo Kurth, Jianying Huang, Stephen Waxman und Sulayman Dib-Hajj. „Episodic Pain Syndrome Associated with a Novel Heterozygous Gain-of-Function SCN11A Missense Mutation“. In Abstracts of the 45th Annual Meeting of the Society for Neuropediatrics. Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1698164.
Der volle Inhalt der QuelleWang, Jin, Yuan Hu, Cassandra Gonzalez, Lin Tang, Bingbing Wang, Adel El-Naggar, Jeffrey Myers und Carlos Caulin. „Abstract A14: The p53R172H gain-of-function mutation promotes resistance to oral cancer immunoprevention“. In Abstracts: AACR-AHNS Head and Neck Cancer Conference: Optimizing Survival and Quality of Life through Basic, Clinical, and Translational Research; April 29-30, 2019; Austin, TX. American Association for Cancer Research, 2020. http://dx.doi.org/10.1158/1557-3265.aacrahns19-a14.
Der volle Inhalt der QuellePerkins, R., L. M. Bartnikas und A. M. H. Casey. „Bronchiectasis Reversal with Tofacitinib Therapy in a Patient with STAT 3 Gain of Function Mutation“. In American Thoracic Society 2020 International Conference, May 15-20, 2020 - Philadelphia, PA. American Thoracic Society, 2020. http://dx.doi.org/10.1164/ajrccm-conference.2020.201.1_meetingabstracts.a1979.
Der volle Inhalt der QuelleGonzalez-Mancera, M. S., B. Johnson, M. Murthi, G. E. Holt, M. A. Campos und M. Mirsaeidi. „STAT3 Gain-of-Function Mutation in a Patient with Recurrent Bronchopulmonary Infections and Multi-Organ Involvement“. In American Thoracic Society 2020 International Conference, May 15-20, 2020 - Philadelphia, PA. American Thoracic Society, 2020. http://dx.doi.org/10.1164/ajrccm-conference.2020.201.1_meetingabstracts.a1362.
Der volle Inhalt der QuelleLees, Robert, Nicola Wyatt, Stephen Boag, Siobhan Burns, Chris Lamb und Ally Speight. „P89 A case of enteropathy secondary to STAT1 gain-of-function mutation successfully treated with tofacitinib“. In BSG LIVE’23, 19–22 June, ACC Liverpool. BMJ Publishing Group Ltd and British Society of Gastroenterology, 2023. http://dx.doi.org/10.1136/gutjnl-2023-bsg.161.
Der volle Inhalt der QuelleHu, Zhongqian, Haoshu Fang und Siying Wang. „Abstract 3634: A gain-of-function mutation in tyrosine phosphatase SHP-2 enhances breast carcinoma malignant phenotypes“. 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.am2015-3634.
Der volle Inhalt der QuelleAcin, Sergio, und Carlos Caulin. „Abstract 4158: The p53 gain-of-function mutation p53R172Hpromotes oral cancer progression in response to DNA damage“. 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.am10-4158.
Der volle Inhalt der QuelleBerichte der Organisationen zum Thema "Mutation gain de fonction"
McClure, Michael A., Yitzhak Spiegel, David M. Bird, R. Salomon und R. H. C. Curtis. Functional Analysis of Root-Knot Nematode Surface Coat Proteins to Develop Rational Targets for Plantibodies. United States Department of Agriculture, Oktober 2001. http://dx.doi.org/10.32747/2001.7575284.bard.
Der volle Inhalt der QuelleWeller, Joel I., Derek M. Bickhart, Micha Ron, Eyal Seroussi, George Liu und George R. Wiggans. Determination of actual polymorphisms responsible for economic trait variation in dairy cattle. United States Department of Agriculture, Januar 2015. http://dx.doi.org/10.32747/2015.7600017.bard.
Der volle Inhalt der QuelleCahaner, Avigdor, Sacit F. Bilgili, Orna Halevy, Roger J. Lien und Kellye S. Joiner. effects of enhanced hypertrophy, reduced oxygen supply and heat load on breast meat yield and quality in broilers. United States Department of Agriculture, November 2014. http://dx.doi.org/10.32747/2014.7699855.bard.
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