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المصدر: Frontiers in Endocrinology, Vol 11 (2020)
Frontiers in Endocrinologyمصطلحات موضوعية: 0301 basic medicine, Polyadenylation, STARD7, RNA Splicing, Endocrinology, Diabetes and Metabolism, Gene Expression, 030209 endocrinology & metabolism, Review, Mitochondrion, lcsh:Diseases of the endocrine glands. Clinical endocrinology, 03 medical and health sciences, Endocrinology, 0302 clinical medicine, Lipid droplet, Gene expression, Animals, Humans, sm-FISH, RNA, Messenger, SIK1, Messenger RNA, lcsh:RC648-665, Chemistry, Cholesterol, HDL, Translation (biology), Phosphoproteins, Mitochondria, Molecular Imaging, Cell biology, CRTC2, Cholesterol, 030104 developmental biology, cholesterol trafficking, nascent HDL formation, Mitochondrial Membranes, RNA splicing, START proteins
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b28efb520504ad72767c46d8f993378aTest
https://www.frontiersin.org/articles/10.3389/fendo.2020.559674/fullTest -
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المؤلفون: Satomi Mitsuhashi, Yasuhiro Horibata, Chieko Aoyama, Hiroyuki Sugimoto, Sho Maejima, Hiroaki Shimizu, Hiromi Ando, Hirotaka Sakamoto
المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-14 (2020)
Scientific Reportsمصطلحات موضوعية: STARD7, Primary Cell Culture, Myosin, lcsh:Medicine, Mitochondrion, Muscle Development, Article, Myoblasts, Gene Knockout Techniques, Mice, Animals, Humans, Myocyte, Muscle, Skeletal, lcsh:Science, Phospholipids, Multidisciplinary, Chemistry, Myogenesis, lcsh:R, Phosphatidylcholine transfer protein, HEK 293 cells, PARL, Gene Expression Regulation, Developmental, Cell Differentiation, musculoskeletal system, Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha, Cell biology, lcsh:Q, Carrier Proteins, tissues, C2C12
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2fbb95fa07ede512b3f15e178950ca5Test
https://doi.org/10.1038/s41598-020-59444-yTest -
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المؤلفون: Bockelmann, Svenja, Mina, John G M, Korneev, Sergei, Hassan, Dina G, Mueller, Dagmar, Hilderink, Angelika, Vlieg, Hedwich C, Raijmakers, Reinout, Heck, Albert J R, Haberkant, Per, Holthuis, Joost C M, Biomolecular Mass Spectrometry and Proteomics, Crystal and Structural Chemistry, Sub Crystal and Structural Chemistry, Sub Biomol.Mass Spectrometry & Proteom., Afd Biomol.Mass Spect. and Proteomics
المساهمون: Biomolecular Mass Spectrometry and Proteomics, Crystal and Structural Chemistry, Sub Crystal and Structural Chemistry, Sub Biomol.Mass Spectrometry & Proteom., Afd Biomol.Mass Spect. and Proteomics
المصدر: Journal of Lipid Research, Vol 59, Iss 3, Pp 515-530 (2018)
Journal of Lipid Research, 59(3), 515. American Society for Biochemistry and Molecular Biology Inc.مصطلحات موضوعية: 0301 basic medicine, Ceramide, STARD7, Ceramide binding, QD415-436, Ceramides, Biochemistry, 03 medical and health sciences, chemistry.chemical_compound, Endocrinology, Humans, Binding site, phosphatidylcholine, Research Articles, Ceramide Transfer Protein, steroidogenic acute regulatory protein D7, Photoaffinity labeling, Steroidogenic acute regulatory protein, Cell Biology, lipid transfer protein, Lipids, Cell biology, mitochondria, ceramide transfer protein, 030104 developmental biology, chemistry, click chemistry, Carrier Proteins, Plant lipid transfer proteins, ceramidetransfer protein, photoaffinity labeling, HeLa Cells
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7faba9600e0ba307383cb1ae6b051424Test
http://www.sciencedirect.com/science/article/pii/S0022227520331394Test -
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المؤلفون: Marina A. J. Tijssen, Mark A. Corbett, Zaid Afawi, Paolo Tinuper, Shoji Tsuji, Rachel Straussberg, Ilan Blatt, Samuel F. Berkovic, Francesco Brancati, Amy L Schneider, Lynette G. Sadleir, Sanjay M. Sisodiya, Renzo Guerrini, Shreyasee Chakraborty, Alfredo Berardelli, Silvana Franceschetti, Jozef Gecz, Luciano Xumerle, Pierre Labauge, Liana Veneziano, Simona Balestrini, Ingo Helbig, Martin A. Smith, Laura Canafoglia, Carlo Di Bonaventura, Hiroyuki Ishiura, Boris Keren, Manuela Pendziwiat, Rahel T. Florian, Sylvie Forlani, Anne Fleur van Rootselaar, Giorgio Casari, Christel Depienne, Tommaso Pippucci, Douglas E. Crompton, Edouard Hirsch, Davide Mei, Laura Licchetta, Renee Carroll, Riaan van Coller, Ingrid E. Scheffer, Thessa Kroes, Pasquale Striano, Brigid M. Regan, Francesca Bisulli, Shaun Carswell, Antonio Suppa, Julien Buratti, Karl Martin Klein, Alison Gardner, Caroline Nava, Federico Zara, Melanie Bahlo, Sabine Kaya, Kathryn Friend, Antonietta Coppola, Massimo Delledonne, Aaron M. Wenger, Anthony Correll, Sara Baldassari, Arn M. J. M. van den Maagdenberg, Eric LeGuern, Rachael Catford, Gabrielle Rudolf, Salvatore Striano, Mark F. Bennett, Josemir W. Sander, Kirston Barton, Michele Iacomino
المساهمون: Corbett M.A., Kroes T., Veneziano L., Bennett M.F., Florian R., Schneider A.L., Coppola A., Licchetta L., Franceschetti S., Suppa A., Wenger A., Mei D., Pendziwiat M., Kaya S., Delledonne M., Straussberg R., Xumerle L., Regan B., Crompton D., van Rootselaar A.-F., Correll A., Catford R., Bisulli F., Chakraborty S., Baldassari S., Tinuper P., Barton K., Carswell S., Smith M., Berardelli A., Carroll R., Gardner A., Friend K.L., Blatt I., Iacomino M., Di Bonaventura C., Striano S., Buratti J., Keren B., Nava C., Forlani S., Rudolf G., Hirsch E., Leguern E., Labauge P., Balestrini S., Sander J.W., Afawi Z., Helbig I., Ishiura H., Tsuji S., Sisodiya S.M., Casari G., Sadleir L.G., van Coller R., Tijssen M.A.J., Klein K.M., van den Maagdenberg A.M.J.M., Zara F., Guerrini R., Berkovic S.F., Pippucci T., Canafoglia L., Bahlo M., Striano P., Scheffer I.E., Brancati F., Depienne C., Gecz J., Neurology, ANS - Brain Imaging, Movement Disorder (MD), Corbett, M. A., Kroes, T., Veneziano, L., Bennett, M. F., Florian, R., Schneider, A. L., Coppola, A., Licchetta, L., Franceschetti, S., Suppa, A., Wenger, A., Mei, D., Pendziwiat, M., Kaya, S., Delledonne, M., Straussberg, R., Xumerle, L., Regan, B., Crompton, D., van Rootselaar, A. -F., Correll, A., Catford, R., Bisulli, F., Chakraborty, S., Baldassari, S., Tinuper, P., Barton, K., Carswell, S., Smith, M., Berardelli, A., Carroll, R., Gardner, A., Friend, K. L., Blatt, I., Iacomino, M., Di Bonaventura, C., Striano, S., Buratti, J., Keren, B., Nava, C., Forlani, S., Rudolf, G., Hirsch, E., Leguern, E., Labauge, P., Balestrini, S., Sander, J. W., Afawi, Z., Helbig, I., Ishiura, H., Tsuji, S., Sisodiya, S. M., Casari, G., Sadleir, L. G., van Coller, R., Tijssen, M. A. J., Klein, K. M., van den Maagdenberg, A. M. J. M., Zara, F., Guerrini, R., Berkovic, S. F., Pippucci, T., Canafoglia, L., Bahlo, M., Striano, P., Scheffer, I. E., Brancati, F., Depienne, C., Gecz, J.
المصدر: Nature communications 10 (2019): 1–10. doi:10.1038/s41467-019-12671-y
info:cnr-pdr/source/autori:Corbett M. A.; KroesT.; Veneziano L.; Bennett M. F.; Florian R.; Schneider A. L.; Coppola A.; Licchetta L.; Franceschetti S.; Suppa A.; Wenger A.; Mei D.; Pendziwiat M.; Kaya S.; Delledonne M.; Straussberg R.; Xumerle L.; Regan B; Crompton D.; van Rootselaar A. F.; Correll A.; Catford R.; Bisulli F.; Chakraborty S.; Baldassari S.; Tinuper P.; Barton K.; Carswell S.; Smith M.; Berardelli A.; Carroll R.; Gardner A.; Friend K. L.; Blatt I.; Iacomino M.; Di Bonaventura C.; Striano S.; Buratti J.; Keren B.; Nava C.; Forlani S.; Rudolf G.; Hirsch E.; Leguern E.; Labauge P.; Balestrini S.; Sander J. W.; Afawi Z.; Helbig I.; Ishiura H.; Tsuji S.; Sisodiya S. M.; Casari G.; Sadleir L. G.; van Coller R.; Tijssen M. A. J.; Klein K. M.; van den Maagdenberg A. M. J. M.; Zara F.; Guerrini R.; Berkovic S. F.; Pippucci T.; Canafoglia L.; Bahlo M.; Striano P.; Scheffer I. E.; Brancati F.; Depienne C.; Gecz J./titolo:Intronic ATTTC repeat expansions in STARD7 in fam ilial adult myoclonic epilepsy linked to chromosome 2/doi:10.1038%2Fs41467-019-12671-y/rivista:Nature communications/anno:2019/pagina_da:1/pagina_a:10/intervallo_pagine:1–10/volume:10
Nature Communications
Nature communications, 10(1):4920. Nature Publishing Group
Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)
Nature Communications, 10. NATURE PUBLISHING GROUP
Nature Communications, 10(1):4920. Nature Publishing Groupمصطلحات موضوعية: 0301 basic medicine, Male, Myoclonus, Medizin, General Physics and Astronomy, Epilepsies, Myoclonic, Epilepsies, Intronic variant, repeat expansions,STARD7, familial adult myoclonic epilepsy, chromosome 2, Epilepsy, 0302 clinical medicine, DOMINANT CORTICAL TREMOR, EXPRESSION ANALYSIS, PEDIGREE, LOCUS, LINKAGE, GENE, 2P11.1-Q12.2, REFINEMENT, MUTATION, BAFME, lcsh:Science, Child, Genetics, Multidisciplinary, DNA Repeat Expansion, Disease genetics, Chromosome Mapping, Middle Aged, Pedigree, Myoclonic Epilepsy, Child, Preschool, Chromosomes, Human, Pair 2, Pair 2, STARD7, Female, Adolescent, Adult, Carrier Proteins, Humans, Young Adult, Introns, Human, Science, Locus (genetics), Biology, Chromosomes, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, medicine, Preschool, Gene, Whole genome sequencing, Intron, Chromosome, General Chemistry, medicine.disease, 030104 developmental biology, Microsatellite instability, Myoclonic epilepsy, lcsh:Q, Familial Adult Myoclonic Epilepsy, Myoclonic, Carrier Protein, 030217 neurology & neurosurgery, Neurological disorders
وصف الملف: ELETTRONICO; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b9341ffcf84a189ee14724c5f929558Test
http://hdl.handle.net/11585/712100Test -
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المؤلفون: Lawrence W. Chamley, Susana Genti-Raimondi, María A. Perillo, Julieta M. Sánchez, Sofía Angeletti
المصدر: Biochimica et Biophysica Acta (BBA) - Biomembranes. 1818:425-433
مصطلحات موضوعية: STARD7, Otras Ciencias Biológicas, TROPHOBLAST SYNCYTIALISATION, Lipid Bilayers, Static Electricity, STEADY STATE FLUORESCENCE DE-QUENCHING, Biophysics, Giant Cells, Membrane Fusion, Models, Biological, Biochemistry, Ciencias Biológicas, Cell membrane, chemistry.chemical_compound, Steady state fluorescence de-quenching, medicine, Humans, Lipid bilayer phase behavior, Lipid Transport, Membrane Fusion Proteins, Phosphatidylethanolamine, Liposome, Chemistry, Bilayer, Cell Membrane, StarD7, Cell Biology, Bilayer fusion, Recombinant Proteins, Crystallography, medicine.anatomical_structure, Förster resonance energy transfer, BILAYER FUSION, Liposomes, FRET, Dynamic light scattering, Carrier Proteins, DYNAMIC LIGHT SCATTERING, CIENCIAS NATURALES Y EXACTAS, Trophoblast syncytialisation
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e7e618f14f6f4e1817b0c2269bbe6b9Test
https://doi.org/10.1016/j.bbamem.2011.10.024Test -
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المؤلفون: Viviana Rena, Susana Genti-Raimondi, Sebastian Marquez, Jésica Flores-Martín, Graciela M. Panzetta-Dutari
المصدر: PLoS ONE
PLoS ONE, Vol 7, Iss 8, p e44152 (2012)مصطلحات موضوعية: Cellular differentiation, lcsh:Medicine, Pregnancy Proteins, Giant Cells, Biochemistry, Molecular cell biology, Endocrinology, Cell Movement, Gene expression, Morphogenesis, ATP Binding Cassette Transporter, Subfamily G, Member 2, Chorionic Gonadotropin, beta Subunit, Human, Choriocarcinoma, RNA, Small Interfering, lcsh:Science, Phospholipids, Gene knockdown, Multidisciplinary, Cell migration, Cell Differentiation, Transfection, Lipids, Cell biology, Neoplasm Proteins, Up-Regulation, Gene Expression Regulation, Neoplastic, Gene Knockdown Techniques, embryonic structures, Medicine, Research Article, STARD7, DNA transcription, Cell Migration, Biology, Cell Line, Tumor, Humans, Reproductive Endocrinology, Gene Silencing, RNA, Messenger, Cell Proliferation, Endocrine Physiology, Cell growth, lcsh:R, Gene Products, env, Proteins, Molecular biology, lcsh:Q, ATP-Binding Cassette Transporters, Carrier Proteins, Immunostaining, Biomarkers, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d8630e8caa85e191e74cba6b0c372c3Test
https://pubmed.ncbi.nlm.nih.gov/22952907Test