المؤلفون: Jacky Lo, Anna-Lena Forst, Richard Warth, Anselm A. Zdebik

المصدر: Frontiers in Physiology, Vol 13 (2022)

مصطلحات موضوعية: KCNJ10, KCNJ16, EAST syndrome, SeSAME syndrome, channelopathy, epilepsy, deafness, Physiology, QP1-981

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fphys.2022.852674/fullTest; https://doaj.org/toc/1664-042XTest

الوصول الحر: https://doaj.org/article/a2f1ca8e23cd4b56bc2c23ec5a659c73Test

المؤلفون: Fahad Mahmood, Monika Mozere, Anselm A. Zdebik, Horia C. Stanescu, Jonathan Tobin, Philip L. Beales, Robert Kleta, Detlef Bockenhauer, Claire Russell

المصدر: Disease Models & Mechanisms, Vol 6, Iss 3, Pp 652-660 (2013)

مصطلحات موضوعية: Medicine, Pathology, RB1-214

وصف الملف: electronic resource

العلاقة: http://dmm.biologists.org/content/6/3/652Test; https://doaj.org/toc/1754-8403Test; https://doaj.org/toc/1754-8411Test

الوصول الحر: https://doaj.org/article/69408ad6f80947c3be5d999f26700f6aTest

المؤلفون: Detlef Bockenhauer, Aparna Renigunta, Bertrand Knebelmann, Anselm A. Zdebik, Huguette Debaix, Jennifer Lake, Olivier Devuyst, Dorien Lugtenberg, Martin Konrad, Jeroen H. F. de Baaij, Richard Warth, Anna-Lena Forst, Stephanie Tellier, Pascal Houillier, Daan H H M Viering, Sinthura Mahendran, Velko Atanasov, Alexander Staruschenko, Tahsin Stefan Barakat, Valentine Gillion, Stefanie Weber, Ewout J. Hoorn, Christoph Rudin, Oleg Palygin, Caroline Rousset-Rouvière, Nathalie Godefroid, Rosa Vargas-Poussou, Alice S. Brooks, Karl P. Schlingmann, Vijay Renigunta, Robert Kleta

المساهمون: Internal Medicine, Clinical Genetics

المصدر: Journal of the American Society of Nephrology, 32(6), 1498-1512. American Society of Nephrology
J Am Soc Nephrol
Journal of the American Society of Nephrology, 32, 1498-1512
Journal of the American Society of Nephrology, 32, 6, pp. 1498-1512

مصطلحات موضوعية: Male, 030232 urology & nephrology, Acid-Base Imbalance, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Mice, Xenopus laevis, 0302 clinical medicine, Loss of Function Mutation, 0303 health sciences, Kidney, biology, Chemistry, Reabsorption, General Medicine, Potassium channel, Hypokalemia, Pedigree, Kidney Tubules, Phenotype, medicine.anatomical_structure, Nephrology, Child, Preschool, Female, Kidney Diseases, medicine.symptom, Adult, medicine.medical_specialty, Adolescent, Hearing Loss, Sensorineural, KCNJ15, KCNJ10, Young Adult, 03 medical and health sciences, Tubulopathy, Clinical Research, Internal medicine, Exome Sequencing, medicine, Animals, Humans, RNA, Messenger, Potassium Channels, Inwardly Rectifying, Alleles, 030304 developmental biology, Infant, Newborn, Infant, Nephrons, medicine.disease, Renal Reabsorption, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Endocrinology, Oocytes, biology.protein, Salts, Homeostasis

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4a91f68731b071b799d0d4b11a305e1Test
https://doi.org/10.1681/asn.2020111587Test

المؤلفون: Kim Wager, Anselm A Zdebik, Sonia Fu, Jonathan D Cooper, Robert J Harvey, Claire Russell

المصدر: PLoS ONE, Vol 11, Iss 6, p e0157365 (2016)

مصطلحات موضوعية: Medicine, Science

العلاقة: http://europepmc.org/articles/PMC4915684?pdf=renderTest; https://doaj.org/toc/1932-6203Test; https://doaj.org/article/3f9d230aaa384ca8aadf0f8781405aefTest

الإتاحة: https://doi.org/10.1371/journal.pone.0157365Test
https://doaj.org/article/3f9d230aaa384ca8aadf0f8781405aefTest

المؤلفون: Jacky Lo, Anna-Lena Forst, Richard Warth, Anselm A. Zdebik

مصطلحات موضوعية: Physiology, Exercise Physiology, Nutritional Physiology, Reproduction, Cell Physiology, Systems Physiology, Animal Physiology - Biophysics, Animal Physiology - Cell, Animal Physiology - Systems, Comparative Physiology, Physiology not elsewhere classified, KCNJ10, KCNJ16, EAST syndrome, SeSAME syndrome, channelopathy, epilepsy, deafness, distal convoluted tubule

العلاقة: https://figshare.com/articles/figure/Image_1_EAST_SeSAME_Syndrome_and_Beyond_The_Spectrum_of_Kir4_1-_and_Kir5_1-Associated_Channelopathies_TIF/19361978Test

الإتاحة: https://doi.org/10.3389/fphys.2022.852674.s001Test
https://figshare.com/articles/figure/Image_1_EAST_SeSAME_Syndrome_and_Beyond_The_Spectrum_of_Kir4_1-_and_Kir5_1-Associated_Channelopathies_TIF/19361978Test

المؤلفون: Xavier Leray, Rossella Conti, Michael Pusch, Bruno Gasnier, Anselm A. Zdebik, François Fenaille, Florence Castelli, Yan Li, Cécile Debacker

المساهمون: Saints-Pères Paris Institute for Neurosciences (SPPIN - UMR 8003), Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), University College of London [London] (UCL), Laboratoire d'Etude du Métabolisme des Médicaments (LEMM), Service de Pharmacologie et Immunoanalyse (SPI), Médicaments et Technologies pour la Santé (MTS), Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Médicaments et Technologies pour la Santé (MTS), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Istituto di BioFisica [Palermo] (IBF), National Research Council of Italy | Consiglio Nazionale delle Ricerche (CNR), This work was supported by the Cystinosis Research Foundation (Grant Nos. CRFS-2014-004 and CRFF-2016-005 to B.G.) and by the French Agence Nationale de la Recherche (ANR) (Grant No. ANR-18-CE11-0009-01 to B.G.)., ANR-18-CE11-0009,LYSOTRANS,Dynamique des transporteurs lysosomaux d'acides aminés(2018), Université de Paris (UP)-Centre National de la Recherche Scientifique (CNRS), Consiglio Nazionale delle Ricerche (CNR)

المصدر: Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, 2021, 118 (32), pp.e2025315118. ⟨10.1073/pnas.2025315118⟩
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2021, 118 (32), pp.e2025315118. ⟨10.1073/pnas.2025315118⟩
Proc Natl Acad Sci U S A

مصطلحات موضوعية: Patch-Clamp Techniques, Arginine, Xenopus, Intracellular pH, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], Xenopus Proteins, 03 medical and health sciences, Cytosol, Lysosome, medicine, Animals, Humans, Uniporter, Electrochemical gradient, 030304 developmental biology, chemistry.chemical_classification, 0303 health sciences, Multidisciplinary, Lysine, 030302 biochemistry & molecular biology, PQLC2, Biological Sciences, nutrient signaling, Organelle membrane, Amino acid, [SDV.BBM.BP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biophysics, Kinetics, Biophysics and Computational Biology, HEK293 Cells, medicine.anatomical_structure, chemistry, transporter, arginine-sensing, gating, Oocytes, Commentary, Biophysics, lysosome, Amino Acid Transport Systems, Basic, Female, Lysosomes, Arginine binding, amino acid

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c043694fdfc3a73cd1c3fbc079a229b9Test
https://hal.science/hal-03320088/documentTest

المؤلفون: Anselm A Zdebik, Fahad Mahmood, Horia C Stanescu, Robert Kleta, Detlef Bockenhauer, Claire Russell

المصدر: PLoS ONE, Vol 8, Iss 11, p e79765 (2013)

مصطلحات موضوعية: Medicine, Science

العلاقة: http://europepmc.org/articles/PMC3828195?pdf=renderTest; https://doaj.org/toc/1932-6203Test; https://doaj.org/article/868525c87ec540c290b833dbb53691e4Test

الإتاحة: https://doi.org/10.1371/journal.pone.0079765Test
https://doaj.org/article/868525c87ec540c290b833dbb53691e4Test

المؤلفون: Oligodendrocyte Development, Myelin Biogenesis, Anselm A. Zdebik, Philine Wangemann, Thomas J. Jentsch

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.vet.k-state.edu/depts/ap/faculty/wangemann/pdf/Zdebik_et_al_2009.pdfTest.

وصف الملف: application/pdf

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.412.2520Test; http://www.vet.k-state.edu/depts/ap/faculty/wangemann/pdf/Zdebik_et_al_2009.pdfTest

الإتاحة: http://www.vet.k-state.edu/depts/ap/faculty/wangemann/pdf/Zdebik_et_al_2009.pdfTest

المؤلفون: Anselm A. Zdebik, Michael Pusch, Paolo Soliani, Giovanni Zifarelli, Thomas J. Jentsch, Eun-Yeong Bergsdorf, Olaf Scheel

مصطلحات موضوعية: Cell Biology, Molecular Biology, Biochemistry

العلاقة: url:https://www.openaccessrepository.it/communities/itmirrorTest; https://www.openaccessrepository.it/record/95959Test

الإتاحة: https://doi.org/10.1074/jbc.m708368200Test
https://www.openaccessrepository.it/record/95959Test

المؤلفون: Rhys Evans, Stephen B. Walsh, Anselm A. Zdebik, Coziana Ciurtin

المصدر: Rheumatology. 54:1541-1548

مصطلحات موضوعية: Systemic disease, Pathology, medicine.medical_specialty, Kidney, business.industry, Fanconi syndrome, Disease, medicine.disease, Systemic scleroderma, Epithelium, Pathogenesis, Sjogren's Syndrome, medicine.anatomical_structure, Rheumatology, Distal renal tubular acidosis, Risk Factors, Glomerulopathy, Immunology, Prevalence, medicine, Humans, Kidney Diseases, Pharmacology (medical), business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90e73d8a7eb5fe6f67d5d11fa29c0a3dTest
https://doi.org/10.1093/rheumatology/kev223Test