المؤلفون: Yao Meng, Sami Sanlidag, Sacha A. Jensen, Sean A. Burnap, Weston B. Struwe, Andreas H. Larsen, Xinyi Feng, Shruti Mittal, Mark S. P. Sansom, Cecilia Sahlgren, Penny A. Handford

المساهمون: ICMS Affiliated, Cell-Matrix Interact. Cardiov. Tissue Reg., Soft Tissue Biomech. & Tissue Eng.

المصدر: Science Signaling, 15(755):eabo3507. American Association for the Advancement of Science (AAAS)
Meng, Y, Sanlidag, S, Jensen, S A, Burnap, S A, Struwe, W B, Larsen, A H, Feng, X, Mittal, S, Sansom, M S P, Sahlgren, C & Handford, P A 2022, ' An N-glycan on the C2 domain of JAGGED1 is important for Notch activation ', Science Signaling, vol. 15, no. 755, eabo3507 . https://doi.org/10.1126/scisignal.abo3507

مصطلحات موضوعية: Calcium-Binding Proteins/genetics, Receptors, Notch/genetics, Glycoside Hydrolases, Receptors, Notch, Calcium-Binding Proteins, Membrane Proteins, Cell Biology, Ligands, Biochemistry, Lipids, Notch/genetics, Glycoside Hydrolases/metabolism, C2 Domains, Polysaccharides, Liposomes, Receptors, Humans, Polysaccharides/genetics, Membrane Proteins/genetics, Molecular Biology, Mannose, Jagged-1 Protein, Jagged-1 Protein/genetics

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac4c9efe42b092cdfc89289531844635
http://www.scopus.com/inward/record.url?scp=85139651605&partnerID=8YFLogxK

المؤلفون: Prashila L Amatya, Mark Mercola, Jennifer Arthur Ataam, Michelle Vu, Alexandra A Gavidia, Renee G.C. Maas, Wouter P. te Rijdt, Ting-Hsuan Wu, Maricela Prado, Albert J. H. Suurmeijer, Ioannis Karakikes, Logan Dunkenberger, Joost P.G. Sluijter, Isaac Perea-Gil, Nirmal Vadgama, Aryan Vink, Yuan Zhang, Jiayi Pei, Karim Sallam, Magdalena Harakalova, Dries A.M. Feyen, Folkert W. Asselbergs

المساهمون: Cardiology, Guided Treatment in Optimal Selected Cancer Patients (GUTS)

المصدر: Circulation, 144(5), 382-392. Lippincott Williams and Wilkins
Circulation, 144(5), 382-392. LIPPINCOTT WILLIAMS & WILKINS
Circulation

مصطلحات موضوعية: Arginine, sequence analysis, Cardiomyopathy, Dilated/genetics, Cardiomyopathy, Regulator, 030204 cardiovascular system & hematology, ACTIVATION, 0302 clinical medicine, ENDOPLASMIC-RETICULUM STRESS, Molecular Targeted Therapy, Sequence Deletion, 0303 health sciences, INDUCTION, Disease Management, unfolded protein response, MOUSE MODEL, ER STRESS, Culture Media, Conditioned/metabolism, Adaptation, Physiological, Phospholamban, Cell biology, DIFFERENTIATION, HEART, Disease Susceptibility, Myocardial Contraction/drug effects, Single-Cell Analysis, Cardiomyopathies, Cardiology and Cardiovascular Medicine, PHOSPHOLAMBAN, dilated, Cardiomyopathy, Dilated, endocrine system, induced pluripotent stem cells, PROTEOSTASIS, Physiological, Article, Contractility, Cardiomyopathies/diagnosis, 03 medical and health sciences, models, Physiology (medical), medicine, Humans, Genetic Predisposition to Disease, Adaptation, 030304 developmental biology, Calcium-Binding Proteins/genetics, business.industry, Mechanism (biology), Gene Expression Profiling, Calcium-Binding Proteins, medicine.disease, Myocardial Contraction, GENE, Culture Media, Induced Pluripotent Stem Cells/metabolism, Proteostasis, Dilated/genetics, Culture Media, Conditioned, Unfolded protein response, RNA, business, Transcriptome, cardiomyopathy, Biomarkers, Conditioned/metabolism, biological

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b598da7adccee3845068562c6754cc13
https://research.rug.nl/en/publications/53ce900f-a727-4f43-856f-e44f401904b9

المؤلفون: Hannuksela, Matias

المساهمون: Umeå universitet. Institutionen för kirurgisk och perioperativ vetenskap, Umeå universitet. Institutionen för folkhälsa och klinisk medicin

مصطلحات موضوعية: Thoracic aorta, Familial aortic aneurysm, Familial aortic dissection, Genetics, Aortic stiffness, Aortic aneurysm, thoracic -- genetics, Calcium-binding proteins -- genetics, Genetic variation, Myosin-light-chain kinase -- genetics, Aorta, thoracic -- anatomy & histology

URL الوصول: http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-134028

Degree: Diss. (sammanfattning) Umeå : Umeå universitet, 2017

المؤلفون: Channabasavaiah B. Gurumurthy, Konstantinos Meletis, Charles Petitpré, Saida Hadjab, Simone Wanderoy, Yiqiao Wang, Francois Lallemend, Anil Sharma, Paula Fontanet, Haohao Wu, Jorge L. Ruas, Paulo R. Jannig, Ole Kiehn, J. Alexander Heimel, Carmelo Bellardita, Rolen M. Quadros, Kylie K. Y. Cheung, Yang Xuan

المساهمون: Netherlands Institute for Neuroscience (NIN)

المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Nature Communications
Wu, H, Petitpré, C, Fontanet, P, Sharma, A, Bellardita, C, Quadros, R M, Jannig, P R, Wang, Y, Heimel, J A, Cheung, K K Y, Wanderoy, S, Xuan, Y, Meletis, K, Ruas, J, Gurumurthy, C B, Kiehn, O, Hadjab, S & Lallemend, F 2021, ' Distinct subtypes of proprioceptive dorsal root ganglion neurons regulate adaptive proprioception in mice ', Nature Communications, vol. 12, no. 1, 1026 . https://doi.org/10.1038/s41467-021-21173-9
Nature Communications, 12(1). Nature Publishing Group

مصطلحات موضوعية: Motor Neurons/classification, Male, 0301 basic medicine, Gene Expression, General Physics and Astronomy, Mice, Motor network, 0302 clinical medicine, Dorsal root ganglion, Feedback, Sensory, Ganglia, Spinal, Nerve Tissue Proteins/genetics, Spinal Cord/cytology, Motor Neurons, Multidisciplinary, Cell type diversity, LIM Domain Proteins, Proprioceptive function, Sensory input, medicine.anatomical_structure, Spinal Cord, Calbindin 1, Core Binding Factor Alpha 2 Subunit, Sensory processing, Core Binding Factor Alpha 3 Subunit/genetics, Single-Cell Analysis, Co-Repressor Proteins, animal structures, Co-Repressor Proteins/genetics, Sensory Receptor Cells, Science, Lectins, C-Type/genetics, Mice, Transgenic, Nerve Tissue Proteins, Sensory system, Biology, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Physical Conditioning, Animal, medicine, Animals, Ganglia, Spinal/cytology, Lectins, C-Type, Transcriptomics, Feedback, Sensory/physiology, Calcium-Binding Proteins/genetics, Proprioception, Core Binding Factor Alpha 2 Subunit/genetics, Calcium-Binding Proteins, General Chemistry, LIM Domain Proteins/genetics, Cellular neuroscience, Mice, Inbred C57BL, Sensory Physiology, Core Binding Factor Alpha 3 Subunit, 030104 developmental biology, nervous system, Sensory Receptor Cells/classification, Increased motor activity, Calbindin 1/genetics, Neuroscience, Proprioception/physiology, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::423756c35932a96770a95f94cb7044fb
https://doaj.org/article/bf14515821cc4d14bb384469db2ce5f5

المؤلفون: Hilde Van Esch, Joris Vermeesch, Louise Gallagher, Eric Legius, Griet Van Buggenhout, Thomy de Ravel, Laura Vandenhove, Peter Aerssens, Nele Cosemans, Koenraad Devriendt, Annick Vogels, Sanbing Shen, Hilde Olivié, Jacqueline Fitzgerald, Hilde Peeters, Jeroen Breckpot, Els Ortibus

المساهمون: Medical Genetics

المصدر: Journal of Medical Genetics. 57:347-355

مصطلحات موضوعية: Male, Proband, Neural Cell Adhesion Molecules/genetics, Schizophrenia/epidemiology, Exon, Intellectual disability, Genetics, Humans, Medicine, Genetic Predisposition to Disease, Intellectual Disability/epidemiology, Clinical significance, Genetics (clinical), Calcium-Binding Proteins/genetics, business.industry, Breakpoint, Intron, Exons, Neurodevelopmental Disorders/epidemiology, medicine.disease, Penetrance, Schizophrenia, Abnormalities, Multiple/epidemiology, Female, business, Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24c857a9e8bca50014a388e16fe900e5
https://doi.org/10.1136/jmedgenet-2019-106448

المساهمون: Pochet, Roland., Lawson, D. Eric M., Heizmann, Claus W.

مصطلحات موضوعية: Calcium-Binding Proteins -- physiology., Calcium-Binding Proteins -- genetics., Neoplasms., Calcium-Binding Proteins., Cells., Calcium-binding proteins -- Congresses., Calcium-binding protein genes -- Expression -- Congresses., Cancer cells -- Congresses., Congresses., Conference proceedings., Conference papers and proceedings.

Relation: European Symposium on Calcium Binding Proteins in Normal and Transformed Cells (1st : 1989 : Brussels, Belgium)

المؤلفون: Shvetsova, E, Sofronova, A, Monajemi, R, Gagalova, K, Draisma, HHM, White, SJ, Santen, GWE, Lopes, SMCDS, Heijmans, BT, Van Meurs, J, Jansen, R, Franke, L, Kielbasa, SM, Den Dunnen, JT, 't Hoen, PAC, Boomsma, DI, Pool, R, Van Dongen, J, Hottenga, JJ, Van Greevenbroek, MMJ, Da Stehouwer, C, Van der Kallen, CJH, Schalkwijk, CG, Wijmenga, C, Zhernakova, S, Tigchelaar, EF, Slagboom, PE, Beekman, M, Deelen, J, Van Heemst, D, Veldink, JH, Van den Berg, LH, Van Duijn, CM, Hofman, BA, Uitterlinden, AG, Jhamai, PM, Verbiest, M, Suchiman, HED, Verkerk, M, Van der Breggen, R, Van Rooij, J, Lakenberg, N, Mei, H, Bot, J, Zhernakova, DV, 't Hof, PV, Deelen, P, Nooren, I, Moed, M, Vermaat, M, Luijk, R, Bonder, MJ, Van Iterson, M, Van Dijk, F, Van Galen, M, Arindrarto, W, Swertz, MA, Van Zwet, EW, Isaacs, A, Francioli, LC, Menelaou, A, Pulit, SL, Palamara, PF, Elbers, CC, Neerincx, PB, Ye, K, Guryev, V, Kloosterman, WP, Abdellaoui, A, Van Leeuwen, EM, Van Oven, M, Li, M, Laros, JF, Karssen, LC, Kanterakis, A, Amin, N, Lameijer, EW, Kattenberg, M, Dijkstra, M, Byelas, H, Van Setten, J, Van Schaik, BD, Nijman, IJ, Renkens, I, Marschall, T, Schonhuth, A, Hehir-Kwa, JY, Handsaker, RE, Polak, P, Sohail, M, Vuzman, D, Hormozdiari, F, Van Enckevort, D, Koval, V, Moed, MH, Van der Velde, KJ, Rivadeneira, F, Estrada, K, Medina-Gomez, C, McCarroll, SA, De Craen, AJ, Suchiman, HE, Oostra, B, Willemsen, G, Platteel, M, Pitts, SJ, Potluri, S, Sundar, P, Cox, DR, Sunyaev, SR, Stoneking, M, De Knijff, P, Kayser, M, Li, Q, Li, Y, Du, Y, Chen, R, Cao, H, Li, N, Cao, S, Wang, J, Bovenberg, JA, Pe'er, I, Van Ommen, GJ, De Bakker, PI

المساهمون: Consortium, Bios, Consortium, Gonl, BIOS consortium, GoNL consortium, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Translational Immunology Groningen (TRIGR), Groningen Research Institute for Asthma and COPD (GRIAC), Stem Cell Aging Leukemia and Lymphoma (SALL), Epidemiology and Data Science, AII - Inflammatory diseases, APH - Methodology, Experimental Immunology, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, APH - Personalized Medicine, Biological Psychology, APH - Mental Health, APH - Health Behaviors & Chronic Diseases, RS: Carim - V01 Vascular complications of diabetes and metabolic syndrome, Interne Geneeskunde, RS: CARIM - R3 - Vascular biology, MUMC+: MA Reumatologie (9), MUMC+: MA Nefrologie (9), MUMC+: MA Medische Oncologie (9), MUMC+: MA Hematologie (9), MUMC+: MA Maag Darm Lever (9), MUMC+: MA Endocrinologie (9), MUMC+: HVC Pieken Maastricht Studie (9), RS: CARIM - R3.01 - Vascular complications of diabetes and the metabolic syndrome, MUMC+: MA Interne Geneeskunde (3), RS: Carim - B01 Blood proteins & engineering, RS: FHML MaCSBio, RS: CARIM - R1 - Thrombosis and haemostasis, RS: CARIM - R1.01 - Blood proteins & engineering, Biochemie, Psychiatry, VU University medical center, Pediatric surgery, Amsterdam Reproduction & Development (AR&D), Internal Medicine, Epidemiology, Genetic Identification, Clinical Genetics

المصدر: European Journal of Human Genetics
European Journal of Human Genetics, 27(3), 455-465. Nature Publishing Group
European journal of human genetics, 27(3), 455-465. Nature Publishing Group
European Journal of Human Genetics, 27(3), 455-465
European Journal of Human Genetics, 27, 455-465
European Journal of Human Genetics, 27(3), 455. Nature Publishing Group
European Journal of Human Genetics, 27, 3, pp. 455-465
Shvetsova, E, 't Hoen, P A C, Boomsma, D I, Pool, R, van Dongen, J, Hottenga, J J, Willemsen, G & BIOS Consortium 2019, ' Skewed X-inactivation is common in the general female population ', European Journal of Human Genetics, vol. 27, no. 3, pp. 455-465 . https://doi.org/10.1038/s41431-018-0291-3
Shvetsova, E, Sofronova, A, Monajemi, R, Gagalova, K, Draisma, H H M, White, S J, Santen, G W E, Chuva de Sousa Lopes, S M, Heijmans, B T, van Meurs, J, Jansen, R, Franke, L, Kiełbasa, S M, den Dunnen, J T, ‘t Hoen, P A C & BIOS Consortium 2019, ' Skewed X-inactivation is common in the general female population ', European Journal of Human Genetics, vol. 27, no. 3, pp. 455-465 . https://doi.org/10.1038/s41431-018-0291-3

مصطلحات موضوعية: Netherlands Twin Register (NTR), Male, 0301 basic medicine, Receptors, Cytoplasmic and Nuclear/genetics, CHROMOSOME-INACTIVATION, BIOS consortium, Receptors, Cytoplasmic and Nuclear, Septins/genetics, Population genetics, GoNL consortium, Population/genetics, Negative selection, 0302 clinical medicine, X Chromosome Inactivation, Receptors, Non-U.S. Gov't, Genetics (clinical), Netherlands, Genetics & Heredity, Genetics, education.field_of_study, Membrane Glycoproteins, Dosage compensation, DMD LOCUS, Research Support, Non-U.S. Gov't, Receptors, Peptide/genetics, Intracellular Signaling Peptides and Proteins, Peptide/genetics, Single Nucleotide, CARRIERS, TRANSLOCATION, VARIABILITY, Female, Life Sciences & Biomedicine, EXPRESSION, Biochemistry & Molecular Biology, Receptors, Peptide, Population, ADRENOLEUKODYSTROPHY, Biology, Research Support, Polymorphism, Single Nucleotide, Article, X-inactivation, DUCHENNE MUSCULAR-DYSTROPHY, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Journal Article, Humans, Polymorphism, Allele, education, Skewed X-inactivation, Gene, 0604 Genetics, Calcium-Binding Proteins/genetics, Science & Technology, CONSEQUENCES, Calcium-Binding Proteins, Membrane Glycoproteins/genetics, 030104 developmental biology, Cytoplasmic and Nuclear/genetics, PATTERNS, Intracellular Signaling Peptides and Proteins/genetics, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19], Septins, 030217 neurology & neurosurgery

وصف الملف: application/pdf; text/plain

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d16e7db74a66781c04e9903128640a4
https://doi.org/10.1038/s41431-018-0291-3

المؤلفون: Deepak K. Gupta, Pieter A. Doevendans, Rutger J. Hassink, Rutger R. van de Leur, Pim van der Harst, Folkert W. Asselbergs, Maarten J. Cramer, Jeroen F. van der Heijden, Karim Taha, Max N. Bos, René van Es

المساهمون: Cardiology

المصدر: Circulation. Arrhythmia and electrophysiology, 14(2). Lippincott Williams and Wilkins

مصطلحات موضوعية: Disease specific, Adult, Male, DNA Mutational Analysis, Computational biology, 030204 cardiovascular system & hematology, Gene mutation, DNA/genetics, 03 medical and health sciences, Electrocardiography, 0302 clinical medicine, Deep Learning, Physiology (medical), Medicine, Humans, 030212 general & internal medicine, Retrospective Studies, Calcium-Binding Proteins/genetics, business.industry, Deep learning, Phospholamban, Proof of concept, Mutation (genetic algorithm), Mutation, Deep neural networks, Female, Artificial intelligence, Cardiology and Cardiovascular Medicine, business, Heart Diseases/diagnosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f126048269e18a08fe5cb2a7b51ed99
https://doi.org/10.1161/circep.120.009056

المؤلفون: Bastiaan J. Boukens, Herman H. W. Silljé, Cees W A van de Kolk, E Marloes Schouten, Eva van Rooij, Rudolf A. de Boer, Paul A. van der Zwaag, Maarten P. van den Berg, Tim R Eijgenraam, Edgar T. Hoorntje, Peter van der Meer, Cornelis J. Boogerd, Nienke M Stege, J. Peter van Tintelen, Jolanda van der Velden, Wouter P. te Rijdt

المساهمون: Medical Biology, ACS - Heart failure & arrhythmias, ACS - Amsterdam Cardiovascular Sciences, Cardiovascular Centre (CVC), Restoring Organ Function by Means of Regenerative Medicine (REGENERATE), Physiology, Hubrecht Institute for Developmental Biology and Stem Cell Research

المصدر: Scientific reports, 10(1):9819. Nature Publishing Group
Scientific Reports
Scientific Reports, 10(1):9819. Nature Publishing Group
Eijgenraam, T R, Boukens, B J, Boogerd, C J, Schouten, E M, van de Kolk, C W A, Stege, N M, te Rijdt, W P, Hoorntje, E T, van der Zwaag, P A, van Rooij, E, van Tintelen, J P, van den Berg, M P, van der Meer, P, van der Velden, J, Silljé, H H W & de Boer, R A 2020, ' The phospholamban p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unreponsive to standard heart failure therapy ', Scientific Reports, vol. 10, no. 1, 9819 . https://doi.org/10.1038/s41598-020-66656-9
Scientific Reports, Vol 10, Iss 1, Pp 1-13 (2020)
Scientific Reports, 10(1). Nature Publishing Group

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_treatment, Cardiomyopathy, lcsh:Medicine, 030204 cardiovascular system & hematology, CARDIOMYOCYTES, ACTIVATION, PROTECTS, Mice, 0302 clinical medicine, Metoprolol/pharmacology, Treatment Failure, ESC GUIDELINES, lcsh:Science, CARDIAC-HYPERTROPHY, PROTEASOME, Metoprolol, Heart transplantation, Multidisciplinary, 3. Good health, Phospholamban, Eplerenone, Phenotype, Heart Failure/complications, Cardiology, Cardiomyopathies/complications, Cardiomyopathies, medicine.drug, Risk, Cardiac function curve, medicine.medical_specialty, endocrine system, SERCA, INHIBITION, Article, 03 medical and health sciences, Medical research, Internal medicine, medicine, Animals, P.ARG14DEL MUTATION, Author Correction, Heart Failure, Calcium-Binding Proteins/genetics, business.industry, Eplerenone/pharmacology, Calcium-Binding Proteins, lcsh:R, medicine.disease, GENE, DYSFUNCTION, 030104 developmental biology, Heart failure, Mutation, lcsh:Q, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb981ce7c18f8ddb3264d473f4b690a1
https://pure.amc.nl/en/publications/the-phospholamban-parg14del-pathogenic-variant-leads-to-cardiomyopathy-with-heart-failure-and-is-unreponsive-to-standard-heart-failure-therapy(214e30fb-af4c-4479-8018-803f473cd834).html

المؤلفون: Carla Oliveira, Maria Sofia Fernandes, Ana Margarida Moreira, Sérgia Velho, Raquel Almeida, Fernando Schmitt, Rita Barros, Joana Paredes, Raquel Seruca, Patrícia Carneiro, Patrícia Oliveira, Anabela Ferro, Joana Figueiredo, Fátima Carneiro

المساهمون: Instituto de Investigação e Inovação em Saúde

المصدر: Cell Communication and Signaling, Vol 17, Iss 1, Pp 1-13 (2019)
Cell Communication and Signaling : CCS

مصطلحات موضوعية: 0301 basic medicine, Candidate gene, Survival, Regulator, lcsh:Medicine, Biochemistry, law.invention, Neoplasm Proteins / genetics, 0302 clinical medicine, Cadherins / genetics, law, Stomach Neoplasms / metabolism, Tumor Cells, Cultured, Tissue microarray, lcsh:Cytology, Cadherins, Prognosis, Neoplasm Proteins, 3. Good health, 030220 oncology & carcinogenesis, Cadherins / metabolism, Signal Transduction, Context (language use), 03 medical and health sciences, Stomach Neoplasms, medicine, Humans, lcsh:QH573-671, Molecular Biology, Calcium-Binding Proteins / genetics, Cadherin, business.industry, Research, Calcium-Binding Proteins, lcsh:R, Calcium-Binding Proteins / metabolism, E-cadherin, Cancer, Cell Biology, Signal Transduction / genetics, medicine.disease, 030104 developmental biology, Cancer cell, Cancer research, Suppressor, Stomach Neoplasms / pathology, Gastric cancer, business, Neoplasm Proteins / metabolism, S100P

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed01826a9abcf54c58d6e3ea10291bc8
https://doi.org/10.1186/s12964-019-0465-9