المؤلفون: Xenakis, Makros N., Kapetis, Dimos, Yang, Yang, Gerrits, Monique M., Heijman, Jordi, Waxman, Stephen G., Lauria, Giuseppe, Faber, Catharina G., Westra, Ronald L., Lindsey, Patrick J., Smeets, Hubert J.

المصدر: Xenakis , M N , Kapetis , D , Yang , Y , Gerrits , M M , Heijman , J , Waxman , S G , Lauria , G , Faber , C G , Westra , R L , Lindsey , P J & Smeets , H J 2021 , ' Hydropathicity-based prediction of pain-causing NaV1.7 variants ' , BMC Bioinformatics , vol. 22 , no. 1 , 212 . https://doi.org/10.1186/s12859-021-04119-2

مصطلحات موضوعية: Atomic hydropathicity, Computational modeling, Cumulative hydropathic topology, Missense mutations, NaV1.7, Pain, Pathogenicity prediction, Scaling, OF-FUNCTION MUTATION, DISORDER MUTATIONS, SCN9A MUTATIONS, FAMILY, INACTIVATION, ERYTHROMELALGIA, SODIUM-CHANNEL NA(V)1.7, SELF-ORGANIZED CRITICALITY, NEURONS, ELECTROPHYSIOLOGICAL PROPERTIES

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/10943d27-4c6f-4164-8a18-bf1de0bbb11e
https://doi.org/10.1186/s12859-021-04119-2

المؤلفون: Toffano, Alberto A., Chiarot, Giacomo, Zamuner, Stefano, Marchi, Margherita, Salvi, Erika, Waxman, Stephen G., Faber, Catharina G., Lauria, Giuseppe, Giacometti, Achille, Simeoni, Marta

المصدر: Toffano , A A , Chiarot , G , Zamuner , S , Marchi , M , Salvi , E , Waxman , S G , Faber , C G , Lauria , G , Giacometti , A & Simeoni , M 2020 , ' Computational pipeline to probe NaV1.7 gain-of-function variants in neuropathic painful syndromes ' , Scientific Reports , vol. 10 , no. 1 , 17930 . https://doi.org/10.1038/s41598-020-74591-y

مصطلحات موضوعية: GATED SODIUM-CHANNELS, NA(V)1.7 MUTATION, DISORDER MUTATIONS, SLOW-INACTIVATION, SCN9A MUTATIONS, ALPHA-SUBUNIT, ERYTHROMELALGIA, ERYTHERMALGIA, CARBAMAZEPINE, PREDICTION

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/47026939-13b0-4059-9de2-639453c8c3b8
https://doi.org/10.1038/s41598-020-74591-y

المؤلفون: Xenakis, Markos N., Kapetis, Dimos, Yang, Yang, Heijman, Jordi, Waxman, Stephen G., Lauria, Giuseppe, Faber, Catharina G., Smeets, Hubert J., Westra, Ronald L., Lindsey, Patrick J.

المصدر: Xenakis , M N , Kapetis , D , Yang , Y , Heijman , J , Waxman , S G , Lauria , G , Faber , C G , Smeets , H J , Westra , R L & Lindsey , P J 2020 , ' Cumulative hydropathic topology of a voltage-gated sodium channel at atomic resolution ' , Proteins-structure Function and Bioinformatics , vol. 88 , no. 10 , pp. 1319-1328 . https://doi.org/10.1002/prot.25951

مصطلحات موضوعية: cumulative hydropathic effects, hydrophobic gating, NavAb, scaling, topology, voltage-gated sodium channels, EXTREME PAIN DISORDER, OF-FUNCTION MUTATION, HYDROPHOBIC MOMENTS, SCN9A MUTATIONS, ALPHA-SUBUNIT, ERYTHROMELALGIA, NA(V)1.7, STATE, WATER, ERYTHERMALGIA

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/0cfd6d7a-08da-4012-8c94-7975b216f128
https://doi.org/10.1002/prot.25951

المؤلفون: Sopacua, M., Hoeijmakers, J.G.J., Merkies, I.S.J., Lauria, G., Waxman, S.G., Faber, C.G.

المصدر: Sopacua , M , Hoeijmakers , J G J , Merkies , I S J , Lauria , G , Waxman , S G & Faber , C G 2019 , ' Small-fiber neuropathy: Expanding the clinical pain universe ' , Journal of the Peripheral Nervous System , vol. 24 , no. 1 , pp. 19-33 . https://doi.org/10.1111/jns.12298

مصطلحات موضوعية: amyotrophic-lateral-sclerosis, autosomal-dominant, congenital insensitivity, corneal confocal microscopy, diagnostic criteria, inherited erythromelalgia, laser-evoked potentials, na(v)1.7 sodium-channels, neuropathic pain, of-function mutation, pain management, scn9a mutations, skin biopsy, small-fiber neuropathy, sodium channel variants

وصف الملف: application/pdf

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/7cc442e4-e216-4243-bb67-bffd2dcb33fa
https://doi.org/10.1111/jns.12298
https://cris.maastrichtuniversity.nl/ws/files/77657997/Faber_2019_Small_fiber_neuropathy_Expanding_the_clinical.pdf

المؤلفون: Eijkenboom, Ivo, Sopacua, Maurice, Otten, Auke, Gerrits, Monique, Hoeijmakers, Janneke, Waxman, Stephen G., Lombardi, Raffaella, Lauria, Giuseppe, Merkies, I.S.J., J.M. Smeets, Hubertus, Faber, Karin, Vanoevelen, Jo

المصدر: Eijkenboom , I , Sopacua , M , Otten , A , Gerrits , M , Hoeijmakers , J , Waxman , S G , Lombardi , R , Lauria , G , Merkies , I S J , J.M. Smeets , H , Faber , K , Vanoevelen , J & PROPANE Study Grp 2019 , ' Expression of pathogenic SCN9A mutations in the zebrafish : A model to study small-fiber neuropathy ' , Experimental Neurology , vol. 311 , pp. 257-264 . https://doi.org/10.1016/j.expneurol.2018.10.008

مصطلحات موضوعية: Small-fiber neuropathy, SCN9A mutations, Zebrafish model, Nerve density, Temperature assay, DIAGNOSTIC-CRITERIA, SODIUM-CHANNELS, IN-VIVO, DEGENERATION, NEURONS, PAIN, ACTIVATION, NAV1.7, GENES, SKIN

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/c6636e3e-4b48-4725-8756-f1a38c7fd9d1
https://doi.org/10.1016/j.expneurol.2018.10.008

المؤلفون: Hubert J.M. Smeets, Catharina G. Faber, Jordi Heijman, Patrick J. Lindsey, Yang Yang, Makros N Xenakis, Dimos Kapetis, Giuseppe Lauria, Ronald L. Westra, Stephen G. Waxman

المساهمون: Klinische Genetica, RS: MHeNs - R3 - Neuroscience, Genetica & Celbiologie, Cardiologie, RS: Carim - H01 Clinical atrial fibrillation, Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, Toxicogenomics, RS: FHML MaCSBio, RS: GROW - R4 - Reproductive and Perinatal Medicine, Dept. of Advanced Computing Sciences, RS: FSE MaCSBio, RS: FSE DACS, RS: FSE DACS Mathematics Centre Maastricht

المصدر: Journal of Biological Physics
Journal of Biological Physics, 47(1), 61-77. Springer

مصطلحات موضوعية: 0301 basic medicine, Work (thermodynamics), Materials science, Critical phenomena, Biophysics, Complex system, NA(V)1.7, SCN9A MUTATIONS, Scaling, Ion, 03 medical and health sciences, 0302 clinical medicine, WATER, Molecular Biology, Ions, Criticality, HYDROPHOBICITY, Original Paper, SELF-ORGANIZED CRITICALITY, Cell Membrane, Sodium, ION SELECTIVITY, ERYTHROMELALGIA, Cell Biology, NAV1.7 MUTATIONS, Atomic and Molecular Physics, and Optics, Coupling (electronics), Hydropathicity, Non-extensitivity, 030104 developmental biology, Energy profile, OF-FUNCTION MUTATION, Chemical physics, EXTREME PAIN DISORDER, NavAb, Voltage-gated sodium channels, Magnetic dipole, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c58ae2c4574b1e6ed7130bee60931be
https://doi.org/10.1007/s10867-021-09565-w

المؤلفون: Dimos Kapetis, Jordi Heijman, Patrick J. Lindsey, Yang Yang, Hubert J.M. Smeets, Giuseppe Lauria, M.N. Xenakis, Stephen G. Waxman, Ronald L. Westra, Catharina G. Faber

المساهمون: Genetica & Celbiologie, Klinische Genetica, RS: MHeNs - R3 - Neuroscience, RS: Carim - H01 Clinical atrial fibrillation, Cardiologie, Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, RS: FHML MaCSBio, MUMC+: DA KG Lab Centraal Lab (9), DKE Scientific staff, RS: FSE MaCSBio, RS: FSE DACS, RS: FSE DACS Mathematics Centre Maastricht, RS: GROW - R4 - Reproductive and Perinatal Medicine

المصدر: Proteins-structure Function and Bioinformatics, 88(10), 1319-1328. Wiley-Liss Inc.

مصطلحات موضوعية: Models, Molecular, Protein Conformation, alpha-Helical, Cellular activity, topology, NA(V)1.7, Gating, Topology, Biochemistry, SCN9A MUTATIONS, 03 medical and health sciences, HYDROPHOBIC MOMENTS, Bacterial Proteins, Structural Biology, Atomic resolution, WATER, voltage-gated sodium channels, Protein Interaction Domains and Motifs, hydrophobic gating, Amino Acid Sequence, Membrane surface, Molecular Biology, Topology (chemistry), 030304 developmental biology, Arcobacter, 0303 health sciences, Binding Sites, Chemistry, Sodium channel, Sodium, 030302 biochemistry & molecular biology, scaling, ERYTHROMELALGIA, STATE, OF-FUNCTION MUTATION, cumulative hydropathic effects, ERYTHERMALGIA, Thermodynamics, Protein Conformation, beta-Strand, EXTREME PAIN DISORDER, ALPHA-SUBUNIT, NavAb, Hydrophobic and Hydrophilic Interactions, Ion Channel Gating, Protein Binding

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6f92a07a592708ffa007901ff04973b
https://cris.maastrichtuniversity.nl/en/publications/0cfd6d7a-08da-4012-8c94-7975b216f128

المؤلفون: Giuseppe Lauria, Stephen G. Waxman, Catharina G. Faber, Dimos Kapetis, Yang Yang, Monique M. Gerrits, Jordi Heijman, Patrick J. Lindsey, M.N. Xenakis, Ronald L. Westra, Hubert J.M. Smeets

المساهمون: Klinische Genetica, RS: MHeNs - R3 - Neuroscience, Genetica & Celbiologie, MUMC+: DA KG Lab Centraal Lab (9), Cardiologie, RS: Carim - H01 Clinical atrial fibrillation, Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, Dept. of Advanced Computing Sciences, RS: FSE MaCSBio, RS: FSE DACS, RS: FSE DACS Mathematics Centre Maastricht, Toxicogenomics, RS: GROW - R4 - Reproductive and Perinatal Medicine, RS: FHML MaCSBio

المصدر: BMC Bioinformatics
BMC Bioinformatics, Vol 22, Iss 1, Pp 1-24 (2021)
BMC Bioinformatics, 22(1):212. BioMed Central Ltd

مصطلحات موضوعية: QH301-705.5, In silico, Computer applications to medicine. Medical informatics, R858-859.7, Pain, Computational biology, Biochemistry, SCN9A MUTATIONS, Scaling, 03 medical and health sciences, Broad spectrum, 0302 clinical medicine, Structural Biology, DISORDER MUTATIONS, Missense mutation, Humans, Atomic hydropathicity, Biology (General), Molecular Biology, NEURONS, 030304 developmental biology, 0303 health sciences, Spatial complexity, Chemistry, Applied Mathematics, SELF-ORGANIZED CRITICALITY, ERYTHROMELALGIA, Computational modeling, SODIUM-CHANNEL NA(V)1.7, ELECTROPHYSIOLOGICAL PROPERTIES, Phenotype, Cumulative hydropathic topology, Computer Science Applications, FAMILY, NaV1.7, OF-FUNCTION MUTATION, NAV1, Mutation (genetic algorithm), Missense mutations, Mutation, Selectivity filter, INACTIVATION, Pathogenicity prediction, 030217 neurology & neurosurgery, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::855bae814a6f10bd223f46a478fa2b70
http://europepmc.org/articles/PMC8063372

المؤلفون: Janneke G. J. Hoeijmakers, Hubert J.M. Smeets, Raffaella Lombardi, Ingemar S. J. Merkies, Auke B C Otten, Stephen G. Waxman, Catharina G. Faber, Monique M. Gerrits, Giuseppe Lauria, Jo Vanoevelen, Maurice Sopacua, Ivo Eijkenboom

المساهمون: RS: MHeNs - R3 - Neuroscience, Promovendi MHN, Genetica & Celbiologie, Klinische Neurowetenschappen, Promovendi ODB, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Centraal Lab (9), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, MUMC+: MA Med Staf Spec Neurologie (9), Klinische Genetica

المصدر: Experimental Neurology, 311, 257-264. Elsevier Science

مصطلحات موضوعية: Male, 0301 basic medicine, GENES, Small Fiber Neuropathy, Transgene, DIAGNOSTIC-CRITERIA, Mutant, Gene Expression, Small-fiber neuropathy, Biology, medicine.disease_cause, Zebrafish model, NAV1.7, ACTIVATION, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, In vivo, SCN9A mutations, medicine, Animals, Humans, Gene, Zebrafish, NEURONS, IN-VIVO, Messenger RNA, Mutation, Sodium channel, NAV1.7 Voltage-Gated Sodium Channel, PAIN, SODIUM-CHANNELS, DEGENERATION, biology.organism_classification, Nerve density, Cell biology, Disease Models, Animal, 030104 developmental biology, Neurology, Temperature assay, Female, 030217 neurology & neurosurgery, SKIN

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f91b5eb5b061b6e19daab51f395eaeb3
https://cris.maastrichtuniversity.nl/en/publications/c6636e3e-4b48-4725-8756-f1a38c7fd9d1

المؤلفون: Deuis, Jennifer R, Dekan, Zoltan, Wingerd, Joshua S, Smith, Jennifer J, Munasinghe, Nehan R, Bhola, Rebecca F, Imlach, Wendy L, Herzig, Volker, Armstrong, David A, Rosengren, K Johan, Bosmans, Frank, Waxman, Stephen G, Dib-Hajj, Sulayman D, Escoubas, Pierre, Minett, Michael S, Christie, Macdonald J, King, Glenn F, Alewood, Paul F, Lewis, Richard J, Wood, John N, Vetter, Irina

المصدر: SCIENTIFIC REPORTS ; ISSN: 2045-2322

مصطلحات موضوعية: Biology and Life Sciences, GATED SODIUM-CHANNELS, CLOSED-STATE INACTIVATION, SPINAL SENSORY NEURONS, ROOT GANGLION NEURONS, SCN9A MUTATIONS, CHEMICAL-SHIFTS, ALPHA-SUBUNIT, DRG NEURONS, NA-V, PAIN

Relation: https://biblio.ugent.be/publication/8584506; http://hdl.handle.net/1854/LU-8584506; http://dx.doi.org/10.1038/srep40883

الاتاحة: https://biblio.ugent.be/publication/8584506
http://hdl.handle.net/1854/LU-8584506
https://doi.org/10.1038/srep40883