Literatura científica selecionada sobre o tema "Syndrome d’Usher de type 3"
Crie uma referência precisa em APA, MLA, Chicago, Harvard, e outros estilos
Índice
Consulte a lista de atuais artigos, livros, teses, anais de congressos e outras fontes científicas relevantes para o tema "Syndrome d’Usher de type 3".
Ao lado de cada fonte na lista de referências, há um botão "Adicionar à bibliografia". Clique e geraremos automaticamente a citação bibliográfica do trabalho escolhido no estilo de citação de que você precisa: APA, MLA, Harvard, Chicago, Vancouver, etc.
Você também pode baixar o texto completo da publicação científica em formato .pdf e ler o resumo do trabalho online se estiver presente nos metadados.
Artigos de revistas sobre o assunto "Syndrome d’Usher de type 3"
Shah, BelaJ, AshishK Jagati, NileshK Katrodiya e SonalM Patel. "Griscelli syndrome type-3". Indian Dermatology Online Journal 7, n.º 6 (2016): 506. http://dx.doi.org/10.4103/2229-5178.193910.
Texto completo da fonteGazizova, G. R., M. R. Shaydullina, F. V. Valeeva e A. I. Galieva. "Autoimmune polyglandular syndrome type 3". Medical Herald of the South of Russia 11, n.º 4 (20 de dezembro de 2020): 78–83. http://dx.doi.org/10.21886/2219-8075-2020-11-4-78-83.
Texto completo da fonteDhankar, Neha, Isha Gupta, Surabhi Dayal e Sonia Chhabra. "Griscelli syndrome type 3 in siblings". International Journal of Trichology 14, n.º 1 (2022): 38. http://dx.doi.org/10.4103/ijt.ijt_42_20.
Texto completo da fontePakarinen, L., S. Karjalainen, K. O. J. Simola, P. Laippala e H. Kaitalo. "Usher's syndrome type 3 in Finland". Laryngoscope 105, n.º 6 (junho de 1995): 613–17. http://dx.doi.org/10.1288/00005537-199506000-00010.
Texto completo da fonteRuan, Yanfei, Nian Liu, Rong Bai, Silvia G. Priori e Carlo Napolitano. "Congenital Long QT Syndrome Type 3". Cardiac Electrophysiology Clinics 6, n.º 4 (dezembro de 2014): 705–13. http://dx.doi.org/10.1016/j.ccep.2014.07.007.
Texto completo da fonteKahara, Toshio, Hitomi Wakakuri, Juri Takatsuji, Iori Motoo, Kosuke R. Shima, Kazuhide Ishikura, Rika Usuda e Yatsugi Noda. "Autoimmune Polyglandular Syndrome Type 3 with Anorexia". Case Reports in Endocrinology 2012 (2012): 1–4. http://dx.doi.org/10.1155/2012/657156.
Texto completo da fonteDurongpisitkul, K., e Vymutt J. Gururaj. "Parainfluenza virus type 3 and pertussis syndrome". Indian Journal of Pediatrics 60, n.º 1 (janeiro de 1993): 139–42. http://dx.doi.org/10.1007/bf02860523.
Texto completo da fonteKerr, Natalie C., R. Sid Wilroy e Robert A. Kaufman. "Type 3 Pfeiffer syndrome with normal thumbs". American Journal of Medical Genetics 66, n.º 2 (11 de dezembro de 1996): 138–43. http://dx.doi.org/10.1002/(sici)1096-8628(19961211)66:2<138::aid-ajmg3>3.0.co;2-n.
Texto completo da fonteKaplan, Paige, e Leonhard S. Wolfe. "Sanfilippo syndrome type D". Journal of Pediatrics 110, n.º 2 (fevereiro de 1987): 267–71. http://dx.doi.org/10.1016/s0022-3476(87)80171-3.
Texto completo da fonteKim, Ungsoo Samuel, Joon H. Lee e Seung-Hee Baek. "Bilateral type 3 Duane retraction syndrome with bilateral tilted disc syndrome". Graefe's Archive for Clinical and Experimental Ophthalmology 251, n.º 5 (10 de agosto de 2012): 1445–46. http://dx.doi.org/10.1007/s00417-012-2122-5.
Texto completo da fonteTeses / dissertações sobre o assunto "Syndrome d’Usher de type 3"
Wentling, Maureen. "Characterization of the disease mechanisms underlying clarin-mediated progressive hearing loss". Electronic Thesis or Diss., Sorbonne université, 2023. https://accesdistant.sorbonne-universite.fr/login?url=https://theses-intra.sorbonne-universite.fr/2023SORUS386.pdf.
Texto completo da fonteDespite high prevalence of debilitating hearing loss, underlying mechanisms of progressive hearing loss remain elusive. Our lab has been investigating the role(s) of clarin-1, responsible for Usher syndrome type III, causing progressive hearing loss, and clarin-2, responsible for non-syndromic hearing impairment, in the auditory system. Due to phenotypic variability in Usher Syndrome type III patients, even among patients with the same genetic mutations, we hypothesized that there may be a functional redundancy between the two clarins. Therefore, we generated clarin-1/clarin-2 total and conditional (Bhlhb5-cre and Myo15-cre) knockout mice. Using a multidisciplinary approach, integrating omics and electrophysiological studies with high resolution imaging over time, I pinpointed key molecular pathways dysregulated in the absence of clarin-1 and clarin-2 in auditory hair cells and primary auditory neurons. Phenotypic analysis of Clrn1-/-Clrn2-/- mice revealed profound deafness from hearing onset. Mechanoelectrical transduction (MET) current recordings were absent in Clrn1-/-Clrn2-/- mice, but only reduced in Clrn1-/- and Clrn2-/- mice. These results demonstrate a compensatory functional role of clarin-1 and clarin-2 at the hair bundle. I also observed abnormalities in ionic homeostasis, required for normal MET function and synaptic transmission, that were more severe in Clrn1-/-Clrn2-/- mice, relative to Clrn1-/- and Clrn2-/- mice. These ionic changes were accompanied by pre- and post-synaptic abnormalities, resulting in abnormal cytoplasmic vesicle accumulation and synaptic function in hair cells. Furthermore, I observed a progressive degeneration of the cochlear sensory epithelium and primary auditory neurons over time. To validate the hypothesis that the primary role(s) of clarin-1 and clarin-2 are in hair cells, I studied mice with hair cell-specific (Myo15-cre) deletion of clarin-1 and clarin-2. These conditional clarin knockout mice mimicked the ionic and synaptic changes found in total clarin knockout mice, resulting in primary auditory neuron degeneration. To reinforce this hypothesis, I studied the auditory phenotype in mice with primary auditory neuron-specific (Bhlhb5-cre) deletion of clarin-1 and clarin-2. These mice had normal audition up to 6 months of age, with no cochlear sensory epithelial changes or primary auditory neuron degeneration. To dig deeper into the common and unique molecular functions of clarin-1 and clarin-2, I performed RNA-seq on whole organ of Corti from Clrn1-/-, Clrn2-/-, and Clrn1-/-Clrn2-/- mice. In accordance with physiological observations, I found dysregulation in 8 distinct and physiologically relevant categories: cationic flux, synaptic organization and function, endocytosis and exocytosis, neuronal function and differentiation, metabolic function, actin and cytoskeletal organization, lipid homeostasis, and inflammation. We conclude that clarin-1 and clarin-2 play common and compensatory roles in mechanoelectrical transduction activity and pre- and post-synaptic integrity. The clarins are also required for auditory hair bundle integrity, ion homeostasis in auditory hair cells, and primary auditory neuronal survival. These findings will help elucidate novel mechanisms implicated in progressive hearing loss
Joensuu, Tarja. "Positional cloning of the usher syndrome type 3 gene (USH3)". Helsinki : University of Helsinki, 2002. http://ethesis.helsinki.fi/julkaisut/laa/kliin/vk/joensuu/.
Texto completo da fonteFang, Fang. "Gain-of-function mutations in SCN5A gene lead to type-3 long QT syndrome". Cleveland State University / OhioLINK, 2012. http://rave.ohiolink.edu/etdc/view?acc_num=csu1354056382.
Texto completo da fonteHuang, Hai. "Biophysical Characterization of Three SCN5A Mutations Linked to Long QT Syndrome Type 3, Sudden Infant Death Syndrome, and Atrial Fibrillation". Thesis, Université Laval, 2010. http://www.theses.ulaval.ca/2010/27250/27250.pdf.
Texto completo da fonteHirose, Sayako. "Propranolol Attenuates Late Sodium Current in a Long QT Syndrome Type 3-Human Induced Pluripotent Stem Cell Model". Doctoral thesis, Kyoto University, 2021. http://hdl.handle.net/2433/265195.
Texto completo da fontePutos, Samantha. "Repurposing 13-Cis-Retinoic Acid: A Potential Treatment for Aneurysms-Osteoarthritis Syndrome". Thesis, Université d'Ottawa / University of Ottawa, 2015. http://hdl.handle.net/10393/32427.
Texto completo da fontePineyro, Pineiro Pablo Enrique. "Novel approaches towards vaccine developments against porcine circovirus type 2 and porcine reproductive and respiratory syndrome virus". Diss., Virginia Tech, 2015. http://hdl.handle.net/10919/77542.
Texto completo da fontePh. D.
Dina, Christian. "Analyse d'association génome entier de 3 pathologies : le diabète de type 2, le syndrome de Brugada et le prolapsus valvulaire mitral : observations sur l'architecture génétique de traits complexes". Nantes, 2012. http://archive.bu.univ-nantes.fr/pollux/show.action?id=d029660f-aac0-4e98-ad6a-35894eef4403.
Texto completo da fonteThe escalating prevalence of cardio-vascular and metabolic disorders, and the limitations of currently available preventive and therapeutic options are increasingly important factors reducing the quality and life expectancy resulting in a dramatic increase in public spending in the health field. This emergency highlights the need for a more complete understanding of the pathogenesis of these diseases as well as the need for bio-markers to increase their predictability is a priority. The genetic approach, in this context, is among the most promising strategies. This approach has many variants. One of the most popular in the last decade is the approach of genome-wide association studies. The strategy is based on the assumption of an important role played by common genetic variants for common diseases. This paradigm has been called the assumption of "common variant, common disease". As part of my thesis, I explored the effect of common variants in three diseases, Diabetes Type 2, Mitral Valvular Prolapse, both being common pathologies and the Brugada syndrome, which is rare in the population. These three diseases strongly contribute to the explosion of population health needs, either by the severity of complications for Type 2 Diabetes, through the need of major surgery for Mitral Valvular Prolapse and through the increased risk of Sudden Death for Brugada Syndrome. I applied various techniques such as genetic imputation, meta-analysis and correction of stratification to help highlight their genetic bases. In Type 2 diabetes, highlighting of the genetic architecture was already well advanced and I participated in the deepening of knowledge. This work helped identify up to 40 genes. We have also shown that there is a substantial polygenic component underlying the genetic architecture of this disease and that most of the identified genes point to a dysfunction of beta cells. Studies on Mitral Valvular Prolapse are less advanced. I selected genetic variants showing a possible association and these variants are being replicated. Preliminary results on the Framingham study showed the possible involvement of genes of the extracellular matrix. Finally, for Brugada Syndrome, I clearly identified three loci that show a highly significant association with the disease. These loci were replicated as well in a European population in Japanese population. If the involvement of genes coding for ion channel proteins (SCN5A and SCN10A) seems to be confirmed, strengthening the definition of Brugada Syndrome as a channelopathy, another pathway possibly related to cardiac development was also identified (through the gene HEY2). Finally, during my PhD, I also contributed to create the concept of common variant for rare disease (CV/CR)
Siew, Keith. "Gitelman & Gordon : mirror image syndromes reveal the roles of WNKs in blood pressure homeostasis and novel anti-hypertensive targets". Thesis, University of Cambridge, 2019. https://www.repository.cam.ac.uk/handle/1810/289398.
Texto completo da fonteZhou, Jing. "Omega-3 fatty acids in the early origins of metabolic syndrome". Thesis, 2015. http://hdl.handle.net/2440/111993.
Texto completo da fonteThesis (Ph.D.) -- University of Adelaide, School of Agriculture, Food and Wine, 2015.
Livros sobre o assunto "Syndrome d’Usher de type 3"
Robey, Seth Hamilton. Mechanisms of Mutation-Specific Inhibition of Late Na+ Current in Long QT Syndrome Type 3. [New York, N.Y.?]: [publisher not identified], 2017.
Encontre o texto completo da fonteJ, Carlson-Newberry Sydne, Southern California Evidence-Based Practice Center/RAND. e United States. Agency for Healthcare Research and Quality., eds. Effects of omega-3 fatty acids on lipids and glycemic control in type II diabetes and the metabolic syndrome and on inflammatory bowel disease, rheumatoid arthritis, renal disease, systemic lupus erythematosus, and osteoporosis. Rockville, MD: Agency for Healthcare Research and Quality, U.S. Department of Health and Human Services, 2004.
Encontre o texto completo da fonteUnited States. Agency for Healthcare Research and Quality., ed. Effects of omega-3 fatty acids on lipids and glycemic control in type II diabetes and the metabolic syndrome and on inflammatory bowel disease, rheumatoid arthritis, renal disease, systemic lupus erythematosus, and osteoporosis. [Rockville, Md.]: Agency for Healthcare Research and Quality, 2004.
Encontre o texto completo da fonteUnited States. Agency for Healthcare Research and Quality, ed. Effects of omega-3 fatty acids on lipids and glycemic control in type II diabetes and the metabolic syndrome and on inflammatory bowel disease, rheumatoid arthritis, renal disease, systemic lupus erythematosus, and osteoporosis. [Rockville, Md.]: Agency for Healthcare Research and Quality, 2004.
Encontre o texto completo da fonteUnited States. Agency for Healthcare Research and Quality., ed. Effects of omega-3 fatty acids on lipids and glycemic control in type II diabetes and the metabolic syndrome and on inflammatory bowel disease, rheumatoid arthritis, renal disease, systemic lupus erythematosus, and osteoporosis. [Rockville, Md.]: Agency for Healthcare Research and Quality, 2004.
Encontre o texto completo da fonteUnited States. Agency for Healthcare Research and Quality., ed. Effects of omega-3 fatty acids on lipids and glycemic control in type II diabetes and the metabolic syndrome and on inflammatory bowel disease, rheumatoid arthritis, renal disease, systemic lupus erythematosus, and osteoporosis. [Rockville, Md.]: Agency for Healthcare Research and Quality, 2004.
Encontre o texto completo da fonteEffects of omega-3 fatty acids on lipids and glycemic control in type II diabetes and the metabolic syndrome and on inflammatory bowel disease, rheumatoid arthritis, renal disease, systemic lupus erythematosus, and osteoporosis. [Rockville, Md.]: Agency for Healthcare Research and Quality, 2004.
Encontre o texto completo da fonteUS GOVERNMENT. Effects of Omega-3 Fatty Acids on Lipids and Glycemic Control in Type II Diabetes and the Metabolic Syndrome and on Inflammatory Bowel Disease, Rheuma (Ahrq Publication). Agency for Healthcare Research and Quality, 2004.
Encontre o texto completo da fonteEffects of omega-3 fatty acids on lipids and glycemic control in type II diabetes and the metabolic syndrome and on inflammatory bowel disease, rheumatoid arthritis, renal disease, systemic lupus erythematosus, and osteoporosis. [Rockville, Md.]: Agency for Healthcare Research and Quality, 2004.
Encontre o texto completo da fonteStrasburger, Victor C., e Susan M. Coupey, eds. AM:STARs: Metabolic Challenges to Adolescent Health, Vol. 19, No. 3. American Academy of Pediatrics, 2005. http://dx.doi.org/10.1542/9781581104103.
Texto completo da fonteCapítulos de livros sobre o assunto "Syndrome d’Usher de type 3"
Grant, Struan F. A. "Genetics of Type 2 Diabetes". In Metabolic Syndrome, 141–57. Cham: Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-11251-0_11.
Texto completo da fonteGrant, Struan F. A. "Genetics of Type 2 Diabetes". In Metabolic Syndrome, 145–61. Cham: Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-031-40116-9_11.
Texto completo da fonteSoman, Sandeep, e Lindsey Aurora. "Type 3 Cardiorenal Syndrome". In Textbook of Cardiorenal Medicine, 95–110. Cham: Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-57460-4_9.
Texto completo da fonteGrant, Struan F. A. "Genetics of Type 2 Diabetes". In Metabolic Syndrome, 1–21. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-12125-3_11-1.
Texto completo da fonteGrant, Struan F. A. "Genetics of Type 2 Diabetes". In Metabolic Syndrome, 1–17. Cham: Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-319-12125-3_11-2.
Texto completo da fonteBurns, Carrie, e Nnenia Francis. "Type 2 Diabetes-Etiology, Epidemiology, Pathogenesis, Treatment". In Metabolic Syndrome, 1–20. Cham: Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-319-12125-3_34-3.
Texto completo da fonteDi Lullo, Luca, e Claudio Ronco. "Type-5 Cardiorenal Syndrome". In Textbook of Cardiorenal Medicine, 111–24. Cham: Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-57460-4_10.
Texto completo da fonteRocha, Natalia, e Peter A. McCullough. "Type 2 Cardiorenal Syndrome". In Textbook of Cardiorenal Medicine, 75–94. Cham: Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-57460-4_8.
Texto completo da fonteDückers, Gregor, e Nima Rezaei. "Griscelli Syndrome (Type 2)". In Genetic Syndromes, 1–3. Cham: Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-319-66816-1_46-1.
Texto completo da fonteBrems, Hilde, Ludwine Messiaen e Eric Legius. "Legius Syndrome: Diagnosis and Pathology". In Neurofibromatosis Type 1, 487–96. Berlin, Heidelberg: Springer Berlin Heidelberg, 2012. http://dx.doi.org/10.1007/978-3-642-32864-0_31.
Texto completo da fonteTrabalhos de conferências sobre o assunto "Syndrome d’Usher de type 3"
Subasri, Vallijah, Nicholas Light, Benjamin Brew, Nathaniel Anderson, Adam Shlien, Anna Goldenberg e David Malkin. "Abstract 1639: Predictive modeling of cancer-type in Li-Fraumeni syndrome". In Proceedings: AACR Annual Meeting 2019; March 29-April 3, 2019; Atlanta, GA. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.sabcs18-1639.
Texto completo da fonteSubasri, Vallijah, Nicholas Light, Benjamin Brew, Nathaniel Anderson, Adam Shlien, Anna Goldenberg e David Malkin. "Abstract 1639: Predictive modeling of cancer-type in Li-Fraumeni syndrome". In Proceedings: AACR Annual Meeting 2019; March 29-April 3, 2019; Atlanta, GA. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.am2019-1639.
Texto completo da fonteAhmed, MI, P. Jordan, M. Arora, M. Iqbal, S. Bandi e M. Prasad. "G399(P) Sturge weber syndrome type 3 masquerading as ‘migraine status’ at presentation". In Royal College of Paediatrics and Child Health, Abstracts of the Annual Conference, 24–26 May 2017, ICC, Birmingham. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2017. http://dx.doi.org/10.1136/archdischild-2017-313087.392.
Texto completo da fonteGochuico, Bernadette R., Heidi Dorward, Caroline Yeager, Blanca J. Gomez e William A. Gahl. "Galectin-3 Co-Localizes With EEA-1 In Type II Cells In Hermansky-Pudlak Syndrome Pulmonary Fibrosis". In American Thoracic Society 2012 International Conference, May 18-23, 2012 • San Francisco, California. American Thoracic Society, 2012. http://dx.doi.org/10.1164/ajrccm-conference.2012.185.1_meetingabstracts.a3498.
Texto completo da fonteSahu, Satya Narayan, Biswajit Mishra, Rojalin Sahu e Chandana Mohanty. "Binding performance of Boerhavia Diffusa plant extracts targeting mutant PLCE1 gene in type 3 nephrotic syndrome: A molecular docking approach". In 2ND INTERNATIONAL CONFERENCE ON EMERGING SMART MATERIALS IN APPLIED CHEMISTRY (ESMAC-2021): ESMAC-2021. AIP Publishing, 2023. http://dx.doi.org/10.1063/5.0127424.
Texto completo da fonteSilva, Bruno Custódio, Gisele Delazeri, Ana Luíza Kolling Konopka, Giulia Righetti Tuppini Vargas, Paulo Ricardo Gazzola Zen e Rafael Fabiano Machado Rosa. "Report of a family affected by fragile X syndrome and type 1 diabetes mellitus". In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.076.
Texto completo da fontePinto, Icaro França Navarro, Wladimir Bocca Vieira de Rezende Pinto, Igor Braga Farias, Bruno de Mattos Lombardi Badia, Gustavo Carvalho Costa, Carolina Maria Marin, Ana Carolina Souza Jorge et al. "Oculogyric Crisis in a patient with PURA Syndrome". In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.121.
Texto completo da fonteRosborough, B. R., Y. Jiang, J. Chen, G. Kitsios, B. J. McVerry, A. Ray, W. Chen e P. Ray. "Single Cell RNA Sequencing Identifies Type I Interferon Signaling and Reduced Suppressor of Cytokine Signaling 3 Expression in Monocytes of Acute Respiratory Distress Syndrome Patients". 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.a6541.
Texto completo da fonteNobrega, Gabriela Bezerra, Marina Bellatti Küller, Gabriela Marçal Rios, Jonathan Yugo Maesaka e José Roberto Filassi. "Follow-up of a Li-Fraumeni syndrome case". In Brazilian Breast Cancer Symposium 2023. Mastology, 2023. http://dx.doi.org/10.29289/259453942023v33s1062.
Texto completo da fonteGyoneva, Lazarina, Mohammad F. Hadi, Yoav Segal, Kevin D. Dorfman e Victor H. Barocas. "Role of Lateral Interactions in Type IV Collagen Network Mechanics". In ASME 2013 Summer Bioengineering Conference. American Society of Mechanical Engineers, 2013. http://dx.doi.org/10.1115/sbc2013-14625.
Texto completo da fonteRelatórios de organizações sobre o assunto "Syndrome d’Usher de type 3"
YARIKOV, A. V., e I. I. SMIRNOV. EXPERIENCE OF DENERVATION OF INTERVERTEBRAL JOINTS OF THE LUMBAR SPINE. Science and Innovation Center Publishing House, abril de 2022. http://dx.doi.org/10.12731/978-0-615-67340-0-1.
Texto completo da fonteXin, Yuning, Hongyu Li, Gungyu Cheng, Junfeng Cui, Yinghui Liu, Aidong Liu, Xiaolin Xu, Pengfei Li e Huize Han. Evaluation of the Effectiveness and Safety of Acupuncture in the Treatment of Cervicogenic Hypertension A Protocol for Systematic Review and Meta-analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, dezembro de 2022. http://dx.doi.org/10.37766/inplasy2022.12.0036.
Texto completo da fonteChou, Roger, Rongwei Fu, Tracy Dana, Miranda Pappas, Erica Hart e Kimberly M. Mauer. Interventional Treatments for Acute and Chronic Pain: Systematic Review. Agency for Healthcare Research and Quality (AHRQ), setembro de 2021. http://dx.doi.org/10.23970/ahrqepccer247.
Texto completo da fonte