-
1
المؤلفون: Christiaan van Ooij, Michael J. Blackman, Ross J. Hill, Ellen Knuepfer, Alessa Ringel, Robert W. Moon
المصدر: The Journal of Biological Chemistry
مصطلحات موضوعية: 0301 basic medicine, Signal peptide, STARD7, parasitology, Protein domain, Plasmodium falciparum, Phospholipid, malaria, Protozoan Proteins, Biological Transport, Active, Mitochondrion, Biochemistry, 03 medical and health sciences, chemistry.chemical_compound, Protein Domains, Phospholipid transfer protein, parasitic diseases, Plasmodium knowlesi, Phospholipid Transfer Proteins, Molecular Biology, phospholipid, Phospholipids, lipid transport, biology, Cell Biology, biology.organism_classification, Lipids, 3. Good health, Cell biology, 030104 developmental biology, chemistry, plasmodium
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab926afef71a92166b91bac55e763f1aTest
http://europepmc.org/articles/PMC5104948Test -
2
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 -
3
المؤلفون: Toshiya Endo, Yasushi Tamura
المصدر: The EMBO Journal. 37
مصطلحات موضوعية: 0301 basic medicine, General Immunology and Microbiology, STARD7, Mitochondrial intermembrane space, General Neuroscience, Rhomboid protease, PARL, Intracellular Membranes, Articles, Mitochondrion, Biology, General Biochemistry, Genetics and Molecular Biology, Mitochondria, Cell biology, 03 medical and health sciences, 030104 developmental biology, Inner membrane, Bacterial outer membrane, Inner mitochondrial membrane, Molecular Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a42d0f0937005ba5df01f966b92b3fcTest
https://doi.org/10.15252/embj.201898993Test -
4
المؤلفون: Susana Genti-Raimondi, Sofía Angeletti, Graciela M. Panzetta-Dutari, Viviana Rena, Jésica Flores-Martín
المصدر: International Journal of Molecular Sciences
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
International Journal of Molecular Sciences, Vol 14, Iss 3, Pp 6170-6186 (2013)مصطلحات موضوعية: cell migration, STARD7, ABCG2, Review, Biology, b-catenin, START domain, Catalysis, lcsh:Chemistry, purl.org/becyt/ford/1 [https], Ciencias Biológicas, Inorganic Chemistry, Cell migration, Physical and Theoretical Chemistry, purl.org/becyt/ford/1.6 [https], lcsh:QH301-705.5, Molecular Biology, Cell proliferation, Spectroscopy, Genetics, Organic Chemistry, Structure function, StarD7, General Medicine, β-catenin, Bioquímica y Biología Molecular, Molecular biology, Computer Science Applications, cell proliferation, lcsh:Biology (General), lcsh:QD1-999, SF-1, Plant lipid transfer proteins, CIENCIAS NATURALES Y EXACTAS
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c02a5df59c4cd56feae3822e0a9ca6efTest
https://doi.org/10.3390/ijms14036170Test -
5
المؤلفون: Peixiang Zhang, Chieko Aoyama, Hiroyuki Sugimoto, Hiromi Ando, Karen Reue, Laurent Vergnes, Yasuhiro Horibata, Masahiko Itoh
المصدر: The Journal of biological chemistry. 291(48)
مصطلحات موضوعية: 0301 basic medicine, STARD7, Protein subunit, Phospholipid, Biology, Mitochondrion, Biochemistry, Electron Transport Complex IV, Mitochondrial Proteins, 03 medical and health sciences, chemistry.chemical_compound, Mice, 0302 clinical medicine, Adenosine Triphosphate, Oxygen Consumption, Phosphatidylcholine, Cell Line, Tumor, Organelle, medicine, Animals, Molecular Biology, Cell Biology, medicine.disease, Lipids, Cell biology, Mitochondria, 030104 developmental biology, chemistry, Gene Knockdown Techniques, Phosphatidylcholines, Optic Atrophy 1, Carrier Proteins, 030217 neurology & neurosurgery, Intracellular
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a581a6932d81b967b3bc269a6bee2fdbTest
https://pubmed.ncbi.nlm.nih.gov/27694445Test -
6
المؤلفون: Jill M. Fritz, Li Yang, Timothy E. Weaver
المصدر: Oncotarget
مصطلحات موضوعية: Stard7, Inflammation, asthma, Mitochondrion, Biology, Intracellular lipid transport, START domain, Immune tolerance, Cell biology, mitochondria, Allergic sensitization, phospholipid transport protein, Editorial, Oncology, Paracellular transport, Immunology, medicine, Respiratory epithelium, medicine.symptom, STARD10
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdb4dad86aee212692ce82bff21051c4Test
https://doi.org/10.18632/oncotarget.5233Test -
7
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