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1Academic Journal
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
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2Academic Journal
المؤلفون: Anna-Lena Forst, Markus Reichold, Robert Kleta, Richard Warth
المصدر: Frontiers in Physiology, Vol 12 (2021)
مصطلحات موضوعية: protein aggregates, autosomal dominant mutation, peroxisome, inflammasome, renal fibrosis, mitochondrial damage associated molecular patterns, Physiology, QP1-981
وصف الملف: electronic resource
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3
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. 1498-1512مصطلحات 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
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المؤلفون: Eszter Banki, Maria Weigert, Johannes Loffing, Twinkle Vohra, Anna-Lena Forst, Agnieszka Wengi, David Penton, Sascha Bandulik, Richard Warth
المساهمون: University of Zurich, Loffing, Johannes
المصدر: Kidney International. 97:1208-1218
مصطلحات موضوعية: 0301 basic medicine, Epithelial sodium channel, medicine.medical_specialty, 10017 Institute of Anatomy, 030232 urology & nephrology, Hypokalemia, 610 Medicine & health, Thiazides, Mice, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Animals, Distal convoluted tubule, Potassium Channels, Inwardly Rectifying, Epithelial Sodium Channels, Mice, Knockout, 2727 Nephrology, Chemistry, Connecting tubule, Potassium channel, Diet, Amiloride, Dietary Potassium, 030104 developmental biology, medicine.anatomical_structure, Endocrinology, Nephrology, Kaliuresis, Potassium, ROMK, 570 Life sciences, biology, medicine.drug
وصف الملف: 2020_01_15_MS-merged.pdf - application/pdf
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5Image
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
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6
المؤلفون: Naomi Issler, Sara Afonso, Irith Weissman, Katrin Jordan, Alberto Cebrian-Serrano, Katrin Meindl, Eileen Dahlke, Konstantin Tziridis, Guanhua Yan, José M. Robles-López, Lydia Tabernero, Vaksha Patel, Anne Kesselheim, Enriko D. Klootwijk, Horia C. Stanescu, Simona Dumitriu, Daniela Iancu, Mehmet Tekman, Monika Mozere, Graciana Jaureguiberry, Priya Outtandy, Claire Russell, Anna-Lena Forst, Christina Sterner, Elena-Sofia Heinl, Helga Othmen, Ines Tegtmeier, Markus Reichold, Ina Maria Schiessl, Katharina Limm, Peter Oefner, Ralph Witzgall, Lifei Fu, Franziska Theilig, Achim Schilling, Efrat Shuster Biton, Limor Kalfon, Ayalla Fedida, Elite Arnon-Sheleg, Ofer Ben Izhak, Daniella Magen, Yair Anikster, Holger Schulze, Christine Ziegler, Martin Lowe, Benjamin Davies, Detlef Böckenhauer, Robert Kleta, Tzipora C. Falik Zaccai, Richard Warth
المصدر: J Am Soc Nephrol
Issler, N, Afonso, S, Weissman, I, Jordan, K, Cebrian-Serrano, A, Meindl, K, Dahlke, E, Tziridis, K, Yan, G, Robles-López, J M, Tabernero, L, Patel, V, Kesselheim, A, Klootwijk, E D, Stanescu, H C, Dumitriu, S, Iancu, D, Tekman, M, Mozere, M, Jaureguiberry, G, Outtandy, P, Russell, C, Forst, A-L, Sterner, C, Heinl, E-S, Othmen, H, Tegtmeier, I, Reichold, M, Schiessl, I M, Limm, K, Oefner, P, Witzgall, R, Fu, L, Theilig, F, Schilling, A, Shuster Biton, E, Kalfon, L, Fedida, A, Arnon-Sheleg, E, Ben Izhak, O, Magen, D, Anikster, Y, Schulze, H, Ziegler, C, Lowe, M, Davies, B, Böckenhauer, D, Kleta, R, Falik Zaccai, T C & Warth, R 2022, ' A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness ', Journal of the American Society of Nephrology : JASN, vol. 33, no. 4, pp. 732-745 . https://doi.org/10.1681/ASN.2021101312مصطلحات موضوعية: Adult, Adolescent, Vesicular Transport Proteins, Deafness, Vesicular Transport Proteins/genetics, Kidney Tubules, Proximal, Mice, Young Adult, Zebrafish/metabolism, Up Front Matters, 570 Biowissenschaften, Biologie, Animals, Humans, Child, Zebrafish, Kidney Tubules, Proximal/metabolism, urogenital system, Proteinuria/metabolism, General Medicine, Low Density Lipoprotein Receptor-Related Protein-2/genetics, Endocytosis, epithelial transport physiology, infertility, megalin, Eps15 homology domain, proximal tubule, genetic renal disease, mutation, Deafness/genetics, Low Density Lipoprotein Receptor-Related Protein-2, Proteinuria, Basic Research, Nephrology, Child, Preschool, Mutation, ddc:570
وصف الملف: application/pdf
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المؤلفون: Anna-Lena Forst, Matías Morín, M A Moreno-Pelayo, Jose Luis López-Sendón Moreno, Adriano Jiménez-Escrig, Verónica Barca-Tierno, Paula Pérez-Torre, Eva García-Galloway, Richard Warth
المصدر: neurogenetics. 21:135-143
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Ataxia, Hearing Loss, Sensorineural, Mutation, Missense, CHO Cells, KCNJ10, medicine.disease_cause, 03 medical and health sciences, Cellular and Molecular Neuroscience, Epilepsy, Cricetulus, 0302 clinical medicine, Tubulopathy, Seizures, Intellectual Disability, Genetics, medicine, Animals, Humans, Missense mutation, Potassium Channels, Inwardly Rectifying, Genetics (clinical), Aged, Mutation, biology, Cerebellar ataxia, business.industry, High-Throughput Nucleotide Sequencing, Middle Aged, medicine.disease, Pedigree, Phenotype, 030104 developmental biology, biology.protein, Female, Sensorineural hearing loss, medicine.symptom, business, 030217 neurology & neurosurgery
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8
المؤلفون: Manuel Gregoritza, Maximilian Philipp, Ursula Storch, Michael Mederos y Schnitzler, Serap Erdogmus, Thomas Gudermann, Franziska Pardatscher, Anna-Lena Forst
المصدر: Proc. Natl. Acad. Sci. U.S.A. 114, E37-E46 (2017)
مصطلحات موضوعية: Diacylglycerol, Nherf, Trpc, Pip2 Depletion, Protein Interaction, 0301 basic medicine, Scaffold protein, Sodium-Hydrogen Exchangers, Multidisciplinary, Chemistry, Phosphoproteins, TRPC5, TRPC4, Diglycerides, 03 medical and health sciences, Transient receptor potential channel, 030104 developmental biology, PNAS Plus, Biochemistry, Biophysics, lipids (amino acids, peptides, and proteins), Signal transduction, Protein kinase C, TRPC, Diacylglycerol kinase
وصف الملف: application/pdf
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9
المؤلفون: Changli Wei, Wenjun Ju, Anna-Lena Forst, Tobias B. Huber, Andreas D. Kistler, Suma Yaddanapudi, Clemens C. Möller, Zhijie Xiao, Jochen Reiser, Tobias Lohmüller, Maria Pia Rastaldi, Christian Faul, Mario Schiffer, Jan Flesche, Markus Bitzer, Jaakko Patrakka, Mehmet M. Altintas, Isabel Fernandez, Karl Tryggvason, Florian Grahammer, Andrey S. Shaw, Phillip Ruiz, Vasil Peev, Thomas Reinheckel, Sanja Sever, Changkyu Gu, Jing Li
المصدر: Europe PubMed Central
The Journal of clinical investigationمصطلحات موضوعية: Cell Survival, Cathepsin L, 030232 urology & nephrology, Mice, Transgenic, Nerve Tissue Proteins, Podocyte, Transforming Growth Factor beta1, Mice, 03 medical and health sciences, 0302 clinical medicine, Clinical investigation, medicine, Animals, Humans, RNA, Messenger, 030212 general & internal medicine, Cytoskeleton, Transcription factor, Cells, Cultured, Adaptor Proteins, Signal Transducing, 030304 developmental biology, Dynamin, Mice, Knockout, 0303 health sciences, Kidney, biology, Podocytes, Dendrin, HEK 293 cells, General Medicine, Cell biology, Cytoskeletal Proteins, Proteinuria, HEK293 Cells, medicine.anatomical_structure, biology.protein, Synaptopodin, Signal transduction, Corrigendum, Peptide Hydrolases, Signal Transduction, Research Article
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10
المؤلفون: Bob Glaudemans, Hanka Venselaar, Anna-Lena Forst, René J. M. Bindels, Jenny van der Wijst, Anil V. Nair, Joost G. J. Hoenderop
المصدر: Journal of Biological Chemistry, 285, 1, pp. 171-8
Journal of Biological Chemistry, 285, 171-8مصطلحات موضوعية: Chemical and physical biology [NCMLS 7], Renal Tubular Transport, Inborn Errors, Time Factors, Energy and redox metabolism [NCMLS 4], Genetics and epigenetic pathways of disease [NCMLS 6], Surface Properties, Stereochemistry, Molecular Sequence Data, Mutant, Membrane transport and intracellular motility [NCMLS 5], Biochemistry, Protein Structure, Secondary, Cell Line, Aspartic acid, Humans, Genetic Predisposition to Disease, Amino Acid Sequence, Asparagine, Patch clamp, Molecular Biology, Genes, Dominant, Renal disorder [IGMD 9], chemistry.chemical_classification, Kv1.1 Potassium Channel, Wild type, Cell Biology, Molecular biology, Amino acid, Kinetics, Membrane Transport, Structure, Function, and Biogenesis, Transmembrane domain, Mitochondrial medicine [IGMD 8], Amino Acid Substitution, chemistry, Mutation, Mutant Proteins, Ion Channel Gating
وصف الملف: application/pdf
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11
المؤلفون: Vlad Sorin Olteanu, Alexander Dietrich, Anna-Lena Forst, Jochen Reiser, Thomas Gudermann, Géraldine Mollet, Ursula Storch, Franz Schaefer, Michael Mederos y Schnitzler, Tanja Wlodkowski
المصدر: Journal of the American Society of Nephrology : JASN. 27(3)
مصطلحات موضوعية: 0301 basic medicine, Purinergic P2X Receptor Antagonists, Mechanotransduction, Cellular, Podocyte, TRPC1, 03 medical and health sciences, Transient receptor potential channel, Mice, Mechanosensitive ion channel, Adenosine Triphosphate, medicine, TRPC6 Cation Channel, Animals, TRPC, Cells, Cultured, Cytoskeleton, TRPC Cation Channels, Mice, Knockout, Benzodiazepinones, biology, Podocytes, Intracellular Signaling Peptides and Proteins, Membrane Proteins, General Medicine, Actin cytoskeleton, Cell biology, Mice, Inbred C57BL, 030104 developmental biology, medicine.anatomical_structure, Cholesterol, Basic Research, Nephrology, Podocin, biology.protein, Mechanosensitive channels, Calcium, Stress, Mechanical, Receptors, Purinergic P2X4
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12
المؤلفون: Anna-Lena Forst, Holger Schneider, Stephanie Blodow, Michael Mederos y Schnitzler, Richard Wizemann, Ursula Storch, Thomas Gudermann
المصدر: Pflugers Archiv : European journal of physiology. 466(7)
مصطلحات موضوعية: Male, medicine.medical_specialty, Vascular smooth muscle, Physiology, Receptor expression, Clinical Biochemistry, Myocytes, Smooth Muscle, Angiotensinogen, Biology, Muscle, Smooth, Vascular, Receptor, Angiotensin, Type 1, Mice, Physiology (medical), Internal medicine, medicine, Animals, RNA, Messenger, Receptor, Mesenteric arteries, Cells, Cultured, Angiotensin II receptor type 1, Angiotensin II, Mesenteric Arteries, Endocrinology, medicine.anatomical_structure, Vasoconstriction, Mechanosensitive channels, medicine.symptom
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13
المؤلفون: Thomas Gudermann, Michael Mederos y Schnitzler, Ursula Storch, Maximilian Philipp, Anna-Lena Forst
مصطلحات موضوعية: CHO Cells, Biology, N-type calcium channel, Biochemistry, Permeability, TRPC1, Gonadotropin-Releasing Hormone, Mice, TRPC3, Cricetulus, Cell Movement, Cricetinae, TRPC6 Cation Channel, Animals, Humans, Protein Structure, Quaternary, Molecular Biology, TRPC, TRPC Cation Channels, Neurons, T-type calcium channel, Cell Biology, Rats, R-type calcium channel, HEK293 Cells, Gene Expression Regulation, Gene Knockdown Techniques, Biophysics, Calcium, Signal Transduction