نتائج البحث - "Chloride Channels/genetics"

1

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

المؤلفون: Elizabeth E. Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H. Nguyen, Vanessa Suckow, Jessica Gibbons, Alva Hoff, Lisa Sigfrid, Andre Megarbane, Mathilde Nizon, Benjamin Cogné, Claire Beneteau, Fowzan S. Alkuraya, Aziza Chedrawi, Mais O. Hashem, Hannah Stamberger, Sarah Weckhuysen, Arnaud Vanlander, Berten Ceulemans, Sulekha Rajagopalan, Kenneth Nunn, Stéphanie Arpin, Martine Raynaud, Constance S. Motter, Catherine Ward-Melver, Katrien Janssens, Marije Meuwissen, Diane Beysen, Nicola Dikow, Mona Grimmel, Tobias B. Haack, Emma Clement, Amy McTague, David Hunt, Sharron Townshend, Michelle Ward, Linda J. Richards, Cas Simons, Gregory Costain, Lucie Dupuis, Roberto Mendoza-Londono, Tracy Dudding-Byth, Jackie Boyle, Carol Saunders, Emily Fleming, Salima El Chehadeh, Marie-Aude Spitz, Amelie Piton, Bénédicte Gerard, Marie-Thérèse Abi Warde, Gillian Rea, Caoimhe McKenna, Sofia Douzgou, Siddharth Banka, Cigdem Akman, Jennifer M. Bain, Tristan T. Sands, Golder N. Wilson, Erin J. Silvertooth, Lauren Miller, Damien Lederer, Rani Sachdev, Rebecca Macintosh, Olivier Monestier, Deniz Karadurmus, Felicity Collins, Melissa Carter, Luis Rohena, Marjolein H. Willemsen, Charlotte W. Ockeloen, Rolph Pfundt, Sanne D. Kroft, Michael Field, Francisco E. R. Laranjeira, Ana M. Fortuna, Ana R. Soares, Vincent Michaud, Sophie Naudion, Sailaja Golla, David D. Weaver, Lynne M. Bird, Jennifer Friedman, Virginia Clowes, Shelagh Joss, Laura Pölsler, Philippe M. Campeau, Maria Blazo, Emilia K. Bijlsma, Jill A. Rosenfeld, Christian Beetz, Zöe Powis, Kirsty McWalter, Tracy Brandt, Erin Torti, Mikaël Mathot, Shekeeb S. Mohammad, Ruth Armstrong, Vera M. Kalscheuer

المساهمون: UCL - SSS/IREC/MONT - Pôle Mont Godinne, UCL - (MGD) Service de pédiatrie, Growth and Development, Pediatrics, Centre for Medical Genetics, Brussels Heritage Lab, Medical Genetics

المصدر: Molecular Psychiatry, 28, 668-697
Molecular psychiatry, Vol. 28, no. 2, p. 668-697 (2022)
Molecular psychiatry
Molecular Psychiatry
MOLECULAR PSYCHIATRY
CLCN4 concortium 2023, ' Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition ', Molecular psychiatry, vol. 28, no. 2, pp. 668-697 . https://doi.org/10.1038/s41380-022-01852-9
Molecular Psychiatry, 28, 2, pp. 668-697
Molecular Psychiatry, 28, 668-697. SPRINGERNATURE

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39edfb04a13ae9bc854e89ef1416ed62
http://hdl.handle.net/2066/290784

Find this article in full text from ProQuest

2

Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

المؤلفون: Martin Konrad, David H. Ellison, Shih-Hua Lin, Rosa Vargas-Poussou, Anne Blanchard, Olivier Devuyst, Detlef Bockenhauer, Davide Bolignano, Lorenzo A. Calò, Nine V A M Knoers, Fiona E. Karet Frankl, Etienne Cosyns

المساهمون: University of Zurich, Devuyst, Olivier, Blanchard, Anne [0000-0002-0815-0586], Bolignano, Davide [0000-0003-3032-245X], Ellison, David H [0000-0003-2915-265X], Apollo - University of Cambridge Repository, CIC - HEGP (CIC 1418), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Paris-Centre de Recherche Cardiovasculaire (PARCC (UMR_S 970/ U970)), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), University College of London [London] (UCL), Great Ormond Street Hospital for Children [London] (GOSH), Consiglio Nazionale delle Ricerche / National Research Council [Calabria, Italy] (CNR), Universita degli Studi di Padova, Wanze [Belgium], Universität Zürich [Zürich] = University of Zurich (UZH), Oregon Health and Science University [Portland] (OHSU), University of Cambridge [UK] (CAM), Cambridge University Hospitals - NHS (CUH), University Medical Center [Utrecht], University Hospital Münster - Universitaetsklinikum Muenster [Germany] (UKM), National Taiwan University [Taiwan] (NTU), Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Università degli Studi di Padova = University of Padua (Unipd), Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte [CHU-Necker] (MARHEA), HULOT, Jean-Sébastien

المصدر: Kidney International, 91(1), 24-33. ELSEVIER SCIENCE INC
Kidney International, 91(1), 24. Nature Publishing Group
Kidney International
Kidney International, Nature Publishing Group, 2017, 91 (1), pp.24-33. ⟨10.1016/j.kint.2016.09.046⟩
Kidney International, 2017, 91 (1), pp.24-33. ⟨10.1016/j.kint.2016.09.046⟩

مصطلحات موضوعية: Calcium/urine, Sodium Chloride, Dietary/therapeutic use, Consensus Development Conferences as Topic, 030232 urology & nephrology, Anti-Inflammatory Agents, Angiotensin-Converting Enzyme Inhibitors, Disease, 030204 cardiovascular system & hematology, Sodium Chloride, thiazide-sensitive sodium-chloride cotransporter, [SDV.MHEP.UN]Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, 10052 Institute of Physiology, 0302 clinical medicine, Gitelman Syndrome/complications, Diagnosis, salt-losing tubulopathy, Medicine, Potassium/administration & dosage, Magnesium, Solute Carrier Family 12, Member 3, Ultrasonography, 2727 Nephrology, Magnesium/administration & dosage, medicine.diagnostic_test, Anti-Inflammatory Agents, Non-Steroidal, Dietary/therapeutic use, Bartter Syndrome/blood, Angiotensin Receptor Antagonists/therapeutic use, 3. Good health, Angiotensin-Converting Enzyme Inhibitors/therapeutic use, Chondrocalcinosis/etiology, Phenotype, Nephrology, Practice Guidelines as Topic, Anti-Inflammatory Agents, Non-Steroidal/therapeutic use, medicine.symptom, Gitelman Syndrome, medicine.medical_specialty, Non-Steroidal/therapeutic use, Solute Carrier Family 12, Chloride Channels/genetics, 610 Medicine & health, Chondrocalcinosis, Hypokalemia, Hypocalciuria, Diagnosis, Differential, 03 medical and health sciences, hypomagnesemia, Angiotensin Receptor Antagonists, Rare Diseases/genetics, Rare Diseases, Tubulopathy, Chloride Channels, Journal Article, Humans, Genetic Testing, Salt intake, Sodium Chloride, Dietary, Intensive care medicine, Genetic testing, business.industry, Bartter Syndrome, Gitelman syndrome, medicine.disease, [SDV.MHEP.UN] Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, hypokalemic metabolic alkalosis, Differential, Member 3/genetics, Dietary Supplements, Mutation, Hypokalemia/blood, Potassium, Quality of Life, 570 Life sciences, biology, Calcium, SLC12A3, Differential diagnosis, Solute Carrier Family 12, Member 3/genetics, business, Kidney disease

وصف الملف: application/pdf; image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b887761584db08d9bc6a00bdec07adc7

3

The murine choroid plexus epithelium expresses the 2Cl-/H+-exchanger ClC-7 and Na+/H+ exchanger NHE6 in the luminal membrane domain

المؤلفون: Henriette L. Christensen, Jeppe Praetorius, Robert A. Fenton, Inga Baasch Christensen, Qi Wu, Helle Hasager Damkier

المصدر: Damkier, H H, Christensen, H L, Christensen, I B, Wu, Q, Fenton, R A & Praetorius, J 2018, ' The murine choroid plexus epithelium expresses the 2Cl-/H+-exchanger ClC-7 and Na+/H+ exchanger NHE6 in the luminal membrane domain ', American Journal of Physiology: Cell Physiology, vol. 314, no. 4, pp. C439-C448 . https://doi.org/10.1152/ajpcell.00145.2017

مصطلحات موضوعية: 0301 basic medicine, Male, Spectrometry, Mass, Electrospray Ionization, Chloride Channels/genetics, Physiology, Intracellular pH, Choroid plexus, Membrane Potentials, Cell membrane, 03 medical and health sciences, Cerebrospinal fluid, Choroid Plexus Epithelium, medicine, Journal Article, Animals, Choroid Plexus/cytology, Mass spectrometry, Chemistry, Cell Membrane/metabolism, Cell Biology, Acid-base transport, Hydrogen-Ion Concentration, Flow Cytometry, Epithelium, Epithelial Cells/metabolism, Transport protein, Cell biology, Mice, Inbred C57BL, Sodium–hydrogen antiporter, 030104 developmental biology, medicine.anatomical_structure, Cerebrospinal Fluid/metabolism, Proteomics/methods, Cell Separation/methods, Sodium-Hydrogen Exchangers/genetics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a13bb45540d861befd477ea1680faee
https://pure.au.dk/portal/da/publications/the-murine-choroid-plexus-epithelium-expresses-the-2clhexchanger-clc7-and-nah-exchanger-nhe6-in-the-luminal-membrane-domain(aabede64-b04d-430f-8f77-7a66a2ef416e).html

4

Clinical utility gene card for: Gitelman syndrome

المؤلفون: Olivier Devuyst, Erik-Jan Kamsteeg, Nine V A M Knoers

المساهمون: UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (SLuc) Service de néphrologie

المصدر: European Journal of Human Genetics, 19, 8, pp. 14-14
European Journal of Human Genetics; Vol 19
EJHG, 19(8). Nature Publishing Group
European Journal of Human Genetics
European Journal of Human Genetics, Vol. 19, no. 8 (2011)
European Journal of Human Genetics, 19, 14-14

مصطلحات موضوعية: Receptors, Drug - genetics, medicine.medical_specialty, Chloride Channels/genetics, Solute Carrier Family 12, Member 3, Receptors, Drug, 030232 urology & nephrology, Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Gitelman Syndrome/genetics, 0302 clinical medicine, Chloride Channels, Internal medicine, Receptors, Genetics, medicine, Hum, Humans, Solute Carrier Family 12, Member 3, Gene, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Symporters/genetics, Chloride Channels - genetics, Symporters, Gitelman syndrome, medicine.disease, Endocrinology, Gitelman Syndrome - genetics, Drug/genetics, Mutation (genetic algorithm), Mutation, Clinical Utility Gene Card, Genetics and epigenetic pathways of disease Renal disorder [NCMLS 6], Symporters - genetics, Gitelman Syndrome, Receptors, Drug/genetics