المؤلفون: Schigt H; Department of Medical BioSciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Bald M; Department of Pediatric Nephrology, Olga Hospital, Clinics of Stuttgart, 70174 Stuttgart, Germany., van der Eerden BCJ; Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center, 3015 GD Rotterdam, The Netherlands., Gal L; Department of Medical BioSciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Ilenwabor BP; Department of Medical BioSciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Konrad M; Pediatric Nephrology, Department of General Pediatrics, University Children's Hospital Münster, 48149 Münster, Germany., Levine MA; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Division of Endocrinology and Diabetes and Center for Bone Health, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Li D; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Mache CJ; Pediatric Nephrology, Department of Pediatrics, Medical University Graz, 8036 Graz, Austria., Mackin S; Institute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow G12 8TA, UK.; Department of Endocrinology, Glasgow Royal Infirmary, Glasgow G4 0SF, UK., Perry C; Department of Endocrinology, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK., Rios FJ; Research Institute of the McGill University Health Centre, McGill University, Montreal, Quebec H3H 2R9, Canada., Schlingmann KP; Pediatric Nephrology, Department of General Pediatrics, University Children's Hospital Münster, 48149 Münster, Germany., Storey B; Oxford Kidney Unit, Oxford University Hospitals, Oxford OX3 7LE, UK., Trapp CM; Trapp-Department of Pediatrics, University of Connecticut School of Medicine, Farmington, CT 06032, USA.; Division of Endocrinology, Connecticut Children's Medical Center, Hartford, CT 06106, USA., Verkerk AJMH; Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center, 3015 GD Rotterdam, The Netherlands., Zillikens MC; Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center, 3015 GD Rotterdam, The Netherlands., Touyz RM; Institute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow G12 8TA, UK.; Research Institute of the McGill University Health Centre, McGill University, Montreal, Quebec H3H 2R9, Canada., Hoorn EJ; Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center, 3015 GD Rotterdam, The Netherlands., Hoenderop JGJ; Department of Medical BioSciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., de Baaij JHF; Department of Medical BioSciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.

المصدر: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2023 Aug 18; Vol. 108 (9), pp. e754-e768.

نوع المنشور: Systematic Review; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability*/genetics , Intellectual Disability*/diagnosis , Hyperostosis, Cortical, Congenital*/genetics , Hypoparathyroidism*/genetics, Humans ; Phenotype ; Electrolytes

SCR Disease Name: Kenny-Caffey syndrome, Type 1

المؤلفون: Schigt H; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Bald M; Department of Pediatric Nephrology, Olgahospital, Clinics of Stuttgart, Stuttgart, Germany., van der Eerden BCJ; Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center, Rotterdam, the Netherlands., Gal L; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Ilenwabor BP; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Konrad M; Pediatric Nephrology, Department of General Pediatrics, University Children`s Hospital Münster, Münster, Germany., Levine MA; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Division of Endocrinology and Diabetes and Center for Bone Health, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Li D; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Mache CJ; Pediatric Nephrology, Department of Pediatrics, Medical University Graz, Graz, Austria., Mackin S; Institute of Cardiovascular and Medical Sciences, University of Glasgow, UK.; Department of Endocrinology, Glasgow Royal Infirmary, Glasgow, UK., Perry C; Department of Endocrinology, Queen Elizabeth University Hospital, Glasgow, UK., Rios FJ; Research Institute of the McGill University Health Centre, McGill University, Montreal, Quebec, Canada., Schlingmann KP; Pediatric Nephrology, Department of General Pediatrics, University Children`s Hospital Münster, Münster, Germany., Storey B; Oxford Kidney Unit, Oxford University Hospitals, UK., Trapp CM; Trapp-Department of Pediatrics, University of Connecticut School of Medicine, Farmington, CT.; Division of Endocrinology, Connecticut Children's Medical Center, Hartford, CT., Verkerk AJMH; Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center, Rotterdam, the Netherlands., Zillikens MC; Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center, Rotterdam, the Netherlands., Touyz RM; Institute of Cardiovascular and Medical Sciences, University of Glasgow, UK.; Research Institute of the McGill University Health Centre, McGill University, Montreal, Quebec, Canada., Hoorn EJ; Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center, Rotterdam, the Netherlands., Hoenderop JGJ; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., de Baaij JHF; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

المصدر: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2023 Jun 16; Vol. 108 (7), pp. e501.

نوع المنشور: Systematic Review; Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Ilenwabor BP; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Franken GAC; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Sponder G; Institute of Veterinary Physiology, Freie Universität Berlin, Berlin, Germany., Bos C; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Racay P; Department of Medical Biochemistry, Jessenius Faculty of Medicine, Comenius University in Bratislava, Martin, Slovakia.; Biomedical Center Martin, Jessenius Faculty of Medicine, Comenius University in Bratislava, Martin, Slovakia., Kolisek M; Biomedical Center Martin, Jessenius Faculty of Medicine, Comenius University in Bratislava, Martin, Slovakia., Hoenderop JGJ; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., de Baaij JHF; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

المصدر: American journal of physiology. Renal physiology [Am J Physiol Renal Physiol] 2022 Nov 01; Vol. 323 (5), pp. F553-F563. Date of Electronic Publication: 2022 Sep 01.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Physiological Society Country of Publication: United States NLM ID: 100901990 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1522-1466 (Electronic) Linking ISSN: 15221466 NLM ISO Abbreviation: Am J Physiol Renal Physiol Subsets: MEDLINE

مواضيع طبية MeSH: Magnesium*/metabolism , Cation Transport Proteins*/genetics, Animals ; Mice ; Cations ; Cyclins/metabolism ; Homeostasis ; Kidney Tubules, Distal/metabolism ; Mice, Knockout ; Mice, Transgenic ; TRPM Cation Channels/genetics ; TRPM Cation Channels/metabolism

المؤلفون: Ilenwabor BP; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Schigt H; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Kompatscher A; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Bos C; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Zuidscherwoude M; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., van der Eerden BCJ; Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center, Rotterdam, The Netherlands., Hoenderop JGJ; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., de Baaij JHF; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands. jeroen.debaaij@radboudumc.nl.

المصدر: Scientific reports [Sci Rep] 2022 Jun 17; Vol. 12 (1), pp. 10211. Date of Electronic Publication: 2022 Jun 17.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

مواضيع طبية MeSH: Hyperostosis, Cortical, Congenital*/genetics , Hypocalcemia*/genetics , Serine Proteases*/genetics , TRPM Cation Channels*/metabolism, Animals ; Humans ; Mice ; Calcium/metabolism ; Electrolytes/metabolism ; Magnesium/metabolism ; Mice, Inbred C57BL ; Parathyroid Hormone/metabolism ; Receptors, Virus ; Sodium-Phosphate Cotransporter Proteins, Type III/metabolism ; Water-Electrolyte Balance

المؤلفون: Ilenwabor BP; Department of Physiology, School of Basic Medical Sciences, University of Benin, Benin City, Edo State. barnabas.ilenwabor@uniben.edu., Asowata EO, Obika LF

المصدر: Nigerian journal of physiological sciences : official publication of the Physiological Society of Nigeria [Niger J Physiol Sci] 2017 Jun 30; Vol. 32 (1), pp. 1-6. Date of Electronic Publication: 2017 Jun 30.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Physiological Society of Nigeria Country of Publication: Nigeria NLM ID: 8811109 Publication Model: Electronic Cited Medium: Internet ISSN: 0794-859X (Print) Linking ISSN: 0794859X NLM ISO Abbreviation: Niger J Physiol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Circadian Rhythm/*physiology , Furosemide/*pharmacology , Nephrons/*drug effects , Potassium/*metabolism , Sodium/*metabolism, Aldosterone/metabolism ; Humans ; Male ; Nephrons/metabolism