Artículos de revistas sobre el tema "AP4S1"
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Behne, Robert, Julian Teinert, Miriam Wimmer, Angelica D’Amore, Alexandra K. Davies, Joseph M. Scarrott, Kathrin Eberhardt et al. "Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking". Human Molecular Genetics 29, n.º 2 (9 de enero de 2020): 320–34. http://dx.doi.org/10.1093/hmg/ddz310.
Texto completoVill, Katharina, Wolfgang Müller-Felber, Bader Alhaddad, Tim M. Strom, Veronika Teusch, Heike Weigand, Astrid Blaschek, Thomas Meitinger y Tobias B. Haack. "A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation". Movement Disorders 32, n.º 5 (2 de febrero de 2017): 797–99. http://dx.doi.org/10.1002/mds.26922.
Texto completoD’Amore, Angelica, Alessandra Tessa, Valentina Naef, Maria Teresa Bassi, Andrea Citterio, Romina Romaniello, Gianluca Fichi et al. "Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52". Annals of Clinical and Translational Neurology 7, n.º 4 (25 de marzo de 2020): 584–89. http://dx.doi.org/10.1002/acn3.51018.
Texto completoCarmona, Susana, Clara Marecos, Marta Amorim, Ana C. Ferreira, Carla Conceição, José Brás, Sofia T. Duarte y Rita Guerreiro. "AP4S1 splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria". Neurology Genetics 4, n.º 5 (19 de septiembre de 2018): e273. http://dx.doi.org/10.1212/nxg.0000000000000273.
Texto completoMcCullough, Carmel G., Szabolcs Szelinger, Newell Belnap, Keri Ramsey, Isabelle Schrauwen, Ana M. Claasen, Leah W. Burke et al. "Utilizing RNA and outlier analysis to identify an intronic splice‐altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia". Human Mutation 41, n.º 2 (14 de noviembre de 2019): 412–19. http://dx.doi.org/10.1002/humu.23939.
Texto completoHardies, Katia, Patrick May, Tania Djémié, Oana Tarta-Arsene, Tine Deconinck, Dana Craiu, Ingo Helbig et al. "Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly". Human Molecular Genetics 24, n.º 8 (30 de diciembre de 2014): 2218–27. http://dx.doi.org/10.1093/hmg/ddu740.
Texto completoKlee, Katharina M. C., Andreas R. Janecke, Hasret A. Civan, Štefan Rosipal, Peter Heinz-Erian, Lukas A. Huber, Thomas Müller y Georg F. Vogel. "AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect". Human Genetics 139, n.º 10 (18 de abril de 2020): 1247–59. http://dx.doi.org/10.1007/s00439-020-02168-w.
Texto completoHannan, Fadil M., Mark Stevenson, Asha L. Bayliss, Victoria J. Stokes, Michelle Stewart, Kreepa G. Kooblall, Caroline M. Gorvin et al. "Ap2s1 mutation causes hypercalcaemia in mice and impairs interaction between calcium-sensing receptor and adaptor protein-2". Human Molecular Genetics 30, n.º 10 (17 de marzo de 2021): 880–92. http://dx.doi.org/10.1093/hmg/ddab076.
Texto completoGavalas, Nikos G., E. Helen Kemp, Kai J. E. Krohn, Edward M. Brown, Philip F. Watson y Anthony P. Weetman. "The Calcium-Sensing Receptor Is a Target of Autoantibodies in Patients with Autoimmune Polyendocrine Syndrome Type 1". Journal of Clinical Endocrinology & Metabolism 92, n.º 6 (1 de junio de 2007): 2107–14. http://dx.doi.org/10.1210/jc.2006-2466.
Texto completoAashiq, Mohamed, Asma Jassim Malallah, Farheen Khan y Maryam Alsada. "Clinical and Biochemical Features in a Case of Familial Hypocalciuric Hypercalcemia Type 3 with AP2S1 Gene Mutation in Codon Arg15His". Case Reports in Pediatrics 2020 (28 de enero de 2020): 1–3. http://dx.doi.org/10.1155/2020/7312894.
Texto completoINGRAM, Stephen W., Stephen T. SAFRANY y Larry D. BARNES. "Disruption and overexpression of the Schizosaccharomyces pombe aps1 gene, and effects on growth rate, morphology and intracellular diadenosine 5′,5'-P1,P5-pentaphosphate and diphosphoinositol polyphosphate concentrations". Biochemical Journal 369, n.º 3 (1 de febrero de 2003): 519–28. http://dx.doi.org/10.1042/bj20020733.
Texto completoВ.А., Кадникова,, Руденская, Г.Е., Шатохина, О.Л., Гусева, Д.М. y Рыжкова, О.П. "Spastic paraplegia type 47 in Russian patients". Nauchno-prakticheskii zhurnal «Medicinskaia genetika, n.º 9 (30 de septiembre de 2022): 56–60. http://dx.doi.org/10.25557/2073-7998.2022.09.56-60.
Texto completoKemp, E. Helen, Nikos G. Gavalas, Kai J. E. Krohn, Edward M. Brown, Philip F. Watson y Anthony P. Weetman. "Activating Autoantibodies against the Calcium-Sensing Receptor Detected in Two Patients with Autoimmune Polyendocrine Syndrome Type 1". Journal of Clinical Endocrinology & Metabolism 94, n.º 12 (1 de diciembre de 2009): 4749–56. http://dx.doi.org/10.1210/jc.2009-1080.
Texto completoHovden, Silje, Lars Rejnmark, Søren A. Ladefoged y Peter H. Nissen. "AP2S1 and GNA11 mutations – not a common cause of familial hypocalciuric hypercalcemia". European Journal of Endocrinology 176, n.º 2 (febrero de 2017): 177–85. http://dx.doi.org/10.1530/eje-16-0842.
Texto completoDeenick, Elissa, Anthony Lau, Tina Nguyen, Julia Bier, Robert Brink y Stuart Tangye. "Analysing the cellular mechanisms underlying activated PI3K δ Syndrome (APDS) reveals differences between APDS1 and APDS2". Journal of Immunology 208, n.º 1_Supplement (1 de mayo de 2022): 159.15. http://dx.doi.org/10.4049/jimmunol.208.supp.159.15.
Texto completoBrozzetti, Annalisa, Stefania Marzotti, Daria La Torre, Maria Luisa Bacosi, Silvia Morelli, Vittorio Bini, Bruno Ambrosi et al. "Autoantibody responses in autoimmune ovarian insufficiency and in Addison's disease are IgG1 dominated and suggest a predominant, but not exclusive, Th1 type of response". European Journal of Endocrinology 163, n.º 2 (agosto de 2010): 309–17. http://dx.doi.org/10.1530/eje-10-0257.
Texto completoWong, Felix Chi Kin, Wai Sheung Wong, Jeffrey Sung Shing Kwok, Teresa Kam Chi Tsui, Kam Piu Lau, Michael Ho Ming Chan y Yuet Ping Yuen. "A Hong Kong Chinese kindred with familial hypocalciuric hypercalcaemia caused by AP2S1 mutation". F1000Research 8 (9 de septiembre de 2019): 1612. http://dx.doi.org/10.12688/f1000research.20344.1.
Texto completoRoubertie, Agathe, Nelson Hieu, Charles-Joris Roux, Nicolas Leboucq, Gael Manes, Majida Charif, Bernard Echenne et al. "AP4 deficiency". Neurology Genetics 4, n.º 1 (24 de enero de 2018): e217. http://dx.doi.org/10.1212/nxg.0000000000000217.
Texto completoAbi warde, M. T., A. De St Martin, R. Touraine, F. Ramond y J. Chelly. "AP4M1 mutations in patients with epilepsy". European Journal of Paediatric Neurology 21 (junio de 2017): e105. http://dx.doi.org/10.1016/j.ejpn.2017.04.758.
Texto completoZaidi, Ghazala, Vijayalakshmi Bhatia, Saroj K. Sahoo, Aditya Narayan Sarangi, Niharika Bharti, Li Zhang, Liping Yu et al. "Autoimmune polyendocrine syndrome type 1 in an Indian cohort: a longitudinal study". Endocrine Connections 6, n.º 5 (julio de 2017): 289–96. http://dx.doi.org/10.1530/ec-17-0022.
Texto completoKing, Barbara J. "Towards an ethnography of African great apes1". Social Anthropology 12, n.º 2 (19 de enero de 2007): 195–207. http://dx.doi.org/10.1111/j.1469-8676.2004.tb00101.x.
Texto completoWallace, I. R., V. McConnell, P. M. Bell y J. R. Lindsay. "Challenges in Management of Primary Hypoparathyroidism Associated with Autoimmune Polyglandular Syndrome Type 1". Case Reports in Endocrinology 2011 (2011): 1–3. http://dx.doi.org/10.1155/2011/281758.
Texto completoEliyahu, Erez, Ido Rog, Dangoor Inbal y Avihai Danon. "ACHT4-driven oxidation of APS1 attenuates starch synthesis under low light intensity in Arabidopsis plants". Proceedings of the National Academy of Sciences 112, n.º 41 (30 de septiembre de 2015): 12876–81. http://dx.doi.org/10.1073/pnas.1515513112.
Texto completoDornan, Gillian L., Braden D. Siempelkamp, Meredith L. Jenkins, Oscar Vadas, Carrie L. Lucas y John E. Burke. "Conformational disruption of PI3Kδ regulation by immunodeficiency mutations inPIK3CDandPIK3R1". Proceedings of the National Academy of Sciences 114, n.º 8 (6 de febrero de 2017): 1982–87. http://dx.doi.org/10.1073/pnas.1617244114.
Texto completoHowles, Sarah A., Fadil M. Hannan, Valerie N. Babinsky, Angela Rogers, Caroline M. Gorvin, Nigel Rust, Tristan Richardson, Malachi J. McKenna, M. Andrew Nesbit y Rajesh V. Thakker. "Cinacalcet for Symptomatic Hypercalcemia Caused by AP2S1 Mutations". New England Journal of Medicine 374, n.º 14 (7 de abril de 2016): 1396–98. http://dx.doi.org/10.1056/nejmc1511646.
Texto completoKerut, Sarah, Karthik Reddy Kovvuru, Licy Yanes-Cardozo y Vishnu Vardhan Garla. "Familial hypocalciuric hypercalcaemia type 3: AP2S1 missense mutation". BMJ Case Reports 13, n.º 11 (noviembre de 2020): e236631. http://dx.doi.org/10.1136/bcr-2020-236631.
Texto completoEbrahimi‐Fakhari, Darius, Chi Cheng, Kira Dies, Amelia Diplock, Danielle B. Pier, Conor S. Ryan, Brendan C. Lanpher et al. "Clinical and genetic characterization of AP4B1 ‐associated SPG47". American Journal of Medical Genetics Part A 176, n.º 2 (28 de noviembre de 2017): 311–18. http://dx.doi.org/10.1002/ajmg.a.38561.
Texto completoBrozzetti, Annalisa, Mohammad Alimohammadi, Silvia Morelli, Viviana Minarelli, Åsa Hallgren, Roberta Giordano, Annamaria De Bellis, Roberto Perniola, Olle Kämpe y Alberto Falorni. "Autoantibody Response Against NALP5/MATER in Primary Ovarian Insufficiency and in Autoimmune Addison's Disease". Journal of Clinical Endocrinology & Metabolism 100, n.º 5 (1 de mayo de 2015): 1941–48. http://dx.doi.org/10.1210/jc.2014-3571.
Texto completoKiseleva, T. A., F. V. Valeeva, D. L. Ekimovskaya, M. A. Makarov y R. T. Habibullina. "Autoimmune polyglandular syndrome type 1". Medical Herald of the South of Russia 13, n.º 2 (29 de junio de 2022): 168–71. http://dx.doi.org/10.21886/2219-8075-2022-13-2-168-171.
Texto completoElsheikh, Sahar A., Henry M. Blunk y Scott Wilhelm. "Clinical Presentation and Management Approach in a Case of Familial Hypocalciuric Hypercalcemia Type 3 Due to APS21 Gene Mutation". Journal of the Endocrine Society 5, Supplement_1 (1 de mayo de 2021): A188. http://dx.doi.org/10.1210/jendso/bvab048.381.
Texto completoTakahashi, Naohiko y Tetsunori Saikawa. "Mechanisms of Supraventricular Tachycardia". Journal of Arrhythmia 27, Supplement (2011): AP4_1. http://dx.doi.org/10.4020/jhrs.27.ap4_1.
Texto completoNesbit, M. Andrew, Fadil M. Hannan, Sarah A. Howles, Anita A. C. Reed, Treena Cranston, Clare E. Thakker, Lorna Gregory et al. "Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3". Nature Genetics 45, n.º 1 (9 de diciembre de 2012): 93–97. http://dx.doi.org/10.1038/ng.2492.
Texto completoMbaeyi-Nwaoha, Ifeoma Elizabeth, Ebere Ani y Ngozi Chioma Okoronkwo. "Toxicity of Soursop Leaf Powder and Its Relevance in Determining The Micronutrient Status in Formulated Complementary Food". Journal of Life and Bio Sciences Research 2, n.º 01 (19 de marzo de 2021): 19–25. http://dx.doi.org/10.38094/jlbsr20124.
Texto completoSantra, Hiran Kanti, Santanu Maity y Debdulal Banerjee. "Production of Bioactive Compounds with Broad Spectrum Bactericidal Action, Bio-Film Inhibition and Antilarval Potential by the Secondary Metabolites of the Endophytic Fungus Cochliobolus sp. APS1 Isolated from the Indian Medicinal Herb Andrographis paniculata". Molecules 27, n.º 5 (22 de febrero de 2022): 1459. http://dx.doi.org/10.3390/molecules27051459.
Texto completoZheng, Danni, Weida Fu, Lingli Jin, Xiaofang Jiang, Wenjie Jiang, Yaoyao Guan y Rutian Hao. "The Overexpression and Clinical Significance of AP1S1 in Breast Cancer". Cancer Management and Research Volume 14 (abril de 2022): 1475–92. http://dx.doi.org/10.2147/cmar.s346519.
Texto completoZhang, J., X. Y. Cheng y G. Y. Sheng. "AP4M1 is abnormally expressed in oxygen–glucose deprived hippocampal neurons". Neuroscience Letters 563 (marzo de 2014): 85–89. http://dx.doi.org/10.1016/j.neulet.2014.01.034.
Texto completoHowell, Sacha, Alice Greenhalgh, Robert Pedley, Suad Alghamdi, Amanda Caruso, Mujtaba Ansari, Tiago Moreira et al. "Abstract P1-10-01: Results from the breast cancer - anti progestin prevention study 1 (BC-APPS1) trial - a novel approach in breast cancer prevention". Cancer Research 82, n.º 4_Supplement (15 de febrero de 2022): P1–10–01—P1–10–01. http://dx.doi.org/10.1158/1538-7445.sabcs21-p1-10-01.
Texto completoDeVoss, Jason J. y Mark S. Anderson. "Lessons on immune tolerance from the monogenic disease APS1". Current Opinion in Genetics & Development 17, n.º 3 (junio de 2007): 193–200. http://dx.doi.org/10.1016/j.gde.2007.04.001.
Texto completoZhang, Xiaojing, Jingjing Wang, Kun Zhu, Yanyan Jin, Haidong Fu y Jianhua Mao. "Activated phosphoinositide 3-kinase delta syndrome misdiagnosed as anti-neutrophil cytoplasmic antibody-associated vasculitis: a case report". Journal of International Medical Research 49, n.º 5 (mayo de 2021): 030006052110132. http://dx.doi.org/10.1177/03000605211013222.
Texto completo., Usmanullah, Ajmal Khan Bazai, Abdul Wadood Kakar, Muhammad Hanif, Shazia Ramzan y Jamshed Khan. "Prevalence of Epilepsy with Autosomal Recessive Intellectual Disability in Consanguineous Families". Pakistan Journal of Medical and Health Sciences 16, n.º 4 (29 de abril de 2022): 1195–97. http://dx.doi.org/10.53350/pjmhs221641195.
Texto completoSaadi, Abdelkrim, Chahinez Meftah, Laurence Colleaux, Amel Daidi, Hakim Gourari, Saadia Lougani y Meriem Abada-Bendib. "Paraparésie spastique héréditaire due à une mutation homozygote du gène AP4M1". Revue Neurologique 173 (marzo de 2017): S155. http://dx.doi.org/10.1016/j.neurol.2017.01.287.
Texto completoChen, Xiuyin, Yar-Khing Yauk, Niels J. Nieuwenhuizen, Adam J. Matich, Mindy Y. Wang, Ramon Lopez Perez, Ross G. Atkinson y Lesley L. Beuning. "Characterisation of an (S)-linalool synthase from kiwifruit (Actinidia arguta) that catalyses the first committed step in the production of floral lilac compounds". Functional Plant Biology 37, n.º 3 (2010): 232. http://dx.doi.org/10.1071/fp09179.
Texto completoSköldberg, Filip, Fredrik Rorsman, Jaakko Perheentupa, Mona Landin-Olsson, Eystein S. Husebye, Jan Gustafsson y Olle Kämpe. "Analysis of Antibody Reactivity against Cysteine Sulfinic Acid Decarboxylase, A Pyridoxal Phosphate-Dependent Enzyme, in Endocrine Autoimmune Disease". Journal of Clinical Endocrinology & Metabolism 89, n.º 4 (1 de abril de 2004): 1636–40. http://dx.doi.org/10.1210/jc.2003-031161.
Texto completoKhan, Jamshed, Muhammad Hanif, Nayyer Uz Zaman, Dost Muhammad Khan, Muhammad Waqar y Usmanullah . "Association of Spastic Paraplegia and Short Stature in Patients of Autosomal Recessive Intellectual Disability". Pakistan Journal of Medical and Health Sciences 16, n.º 10 (30 de octubre de 2022): 851–54. http://dx.doi.org/10.53350/pjmhs221610851.
Texto completoBauer, Peter, Esther Leshinsky-Silver, Lubov Blumkin, Nina Schlipf, Christopher Schröder, Julia Schicks, Dorit Lev, Olaf Riess, Tally Lerman-Sagie y Ludger Schöls. "Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)". neurogenetics 13, n.º 1 (31 de enero de 2012): 73–76. http://dx.doi.org/10.1007/s10048-012-0314-0.
Texto completoHaq, Tahniyah, Anisur Rahman y Shapur Ikhtaire. "Autoimmune polyendocrine syndrome type 1 a case report from Bangladesh". IMC Journal of Medical Science 10, n.º 1 (12 de enero de 2017): 33–35. http://dx.doi.org/10.3329/imcjms.v10i1.31105.
Texto completoSix, Anne, Khedidja Mosbahi, Madhuri Barge, Colin Kleanthous, Thomas Evans y Daniel Walker. "Pyocin efficacy in a murine model of Pseudomonas aeruginosa sepsis". Journal of Antimicrobial Chemotherapy 76, n.º 9 (18 de junio de 2021): 2317–24. http://dx.doi.org/10.1093/jac/dkab199.
Texto completoListon, Adrian, Daniel H. D. Gray, Sylvie Lesage, Anne L. Fletcher, Judith Wilson, Kylie E. Webster, Hamish S. Scott, Richard L. Boyd, Leena Peltonen y Christopher C. Goodnow. "Gene Dosage–limiting Role of Aire in Thymic Expression, Clonal Deletion, and Organ-specific Autoimmunity". Journal of Experimental Medicine 200, n.º 8 (18 de octubre de 2004): 1015–26. http://dx.doi.org/10.1084/jem.20040581.
Texto completoWu, Yiwen, Yi Huang, Chenhui Zhou, Haifeng Wang, Zhepei Wang, Jiawei Wu, Sheng Nie, Xinpeng Deng, Jie Sun y Xiang Gao. "A Novel Necroptosis-Related Prognostic Signature of Glioblastoma Based on Transcriptomics Analysis and Single Cell Sequencing Analysis". Brain Sciences 12, n.º 8 (26 de julio de 2022): 988. http://dx.doi.org/10.3390/brainsci12080988.
Texto completoMayr, Bernhard, Dirk Schnabel, Helmuth-Günther Dörr y Christof Schöfl. "GENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts". European Journal of Endocrinology 174, n.º 5 (mayo de 2016): R189—R208. http://dx.doi.org/10.1530/eje-15-1028.
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