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The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 05/2014, Volume 99, Issue 5, pp. 1741 - 1748
Journal Article
Burns, ISSN 0305-4179, 12/2018, Volume 44, Issue 8, pp. 1863 - 1869
Journal Article
American Journal of Physiology - Renal Physiology, ISSN 0363-6127, 03/2010, Volume 298, Issue 3, pp. F485 - F499
Riccardi D, Brown EM. Physiology and pathophysiology of the calcium-sensing receptor in the kidney. Am J Physiol Renal Physiol 298: F485-F499, 2010. First... 
Activating mutation | Thick ascending limb | Autosomal dominant hypoparathyroidism | Familial hypocalciuric hypercalcemia | Distal convoluted tubule | Hypercalcemia | Calcimimetic | Proximal tubule | Neonatal severe primary hyperparathyroidism | Hypercalciuria | 1,25-dihydroxyvitamin D | Parathyroid hormone | Inactivating mutation | Collecting duct | Hyperparathyroidism | Hypocalcemia | Polymorphism | neonatal severe primary hyperparathyroidism | PHYSIOLOGY | BONE-MINERAL DENSITY | NEONATAL SEVERE HYPERPARATHYROIDISM | polymorphism | hyperparathyroidism | PARATHYROID-HORMONE SECRETION | proximal tubule | parathyroid hormone | EXTRACELLULAR CA2+-SENSING RECEPTOR | VASOPRESSIN-ELICITED WATER | VITAMIN-D METABOLISM | 1,25-dihydroxyvitamin D-3 | calcimimetic | AUTOSOMAL-DOMINANT HYPOCALCEMIA | thick ascending limb | THICK ASCENDING LIMBS | hypercalcemia | collecting duct | hypocalcemia | inactivating mutation | UROLOGY & NEPHROLOGY | autosomal dominant hypoparathyroidism | APICAL K+ CHANNELS | hypercalciuria | distal convoluted tubule | activating mutation | familial hypocalciuric hypercalcemia | Calcium - metabolism | Autoantibodies - blood | Humans | Homeostasis | Structure-Activity Relationship | Receptors, Calcium-Sensing - metabolism | Hyperparathyroidism, Primary - metabolism | Hyperparathyroidism, Primary - physiopathology | Kidney - metabolism | Parathyroid Hormone - metabolism | Kidney - physiopathology | Bartter Syndrome - metabolism | Kidney - drug effects | Hypercalciuria - physiopathology | Hypercalcemia - metabolism | Receptors, Calcium-Sensing - immunology | Animals | Hypercalcemia - physiopathology | Signal Transduction - drug effects | Hypercalciuria - metabolism | Receptors, Calcium-Sensing - drug effects | Protein Conformation | Receptors, Calcium-Sensing - genetics | Bartter Syndrome - physiopathology | Mutation | Parathyroid Glands - metabolism | Autoimmunity | Physiological aspects | Cell receptors | Kidneys | Research | 1,25-dihydroxyvitamin D3 | Reviews
Journal Article
Current Opinion in Nephrology and Hypertension, ISSN 1062-4821, 05/2016, Volume 25, Issue 4, pp. 301 - 307
PURPOSE OF REVIEWIdentification of the mechanisms of magnesium absorption and reabsorption has markedly enhanced our understanding of the causes of... 
TRPM6/7 | hypomagnesemia | hereditary causes of hypomagnesemia | proton pump inhibitors | epidermal growth factor | FAMILIAL HYPOMAGNESEMIA | DISORDERS | MAGNESIUM | HYPERCALCIURIA | TRANSPORT | CLDN19 | UROLOGY & NEPHROLOGY | PERIPHERAL VASCULAR DISEASE | MUTATIONS | KIDNEY | TRPM6 | EXPRESSION | Hypocalcemia - metabolism | Humans | Sodium Potassium Chloride Symporter Inhibitors - adverse effects | Water-Electrolyte Imbalance - etiology | Intestines - metabolism | Pancreatitis - complications | Nephrocalcinosis - complications | Magnesium Deficiency - complications | Nephrocalcinosis - metabolism | Renal Tubular Transport, Inborn Errors - metabolism | Bartter Syndrome - metabolism | Hypocalcemia - complications | Intestinal Elimination | Proton Pump Inhibitors - adverse effects | Hypoparathyroidism - congenital | Magnesium Deficiency - congenital | Water-Electrolyte Imbalance - chemically induced | Bartter Syndrome - complications | Magnesium - metabolism | Renal Tubular Transport, Inborn Errors - complications | Magnesium Deficiency - metabolism | Hypoparathyroidism - metabolism | Renal Elimination | Hypercalciuria - complications | Water-Electrolyte Imbalance - metabolism | Hypercalciuria - metabolism | Gitelman Syndrome - complications | Hypoparathyroidism - complications | Gitelman Syndrome - metabolism | Pancreatitis - metabolism | Nephrons - metabolism
Journal Article
DEUTSCHE MEDIZINISCHE WOCHENSCHRIFT, ISSN 0012-0472, 08/2019, Volume 144, Issue 16, pp. 1125 - 1132
Journal Article
Scientific Reports, ISSN 2045-2322, 01/2017, Volume 7, Issue 1, p. 39856
Differentiated neurons and glia are acquired from immature precursors via transcriptional controls exerted by factors such as proteins in the family of Glial... 
NEURAL STEM-CELLS | NERVOUS-SYSTEM | TRANSCRIPTIONAL ACTIVITY | GENE | AUTOSOMAL-DOMINANT HYPOPARATHYROIDISM | PHOSPHORYLATION | MULTIDISCIPLINARY SCIENCES | FAMILIAL ISOLATED HYPOPARATHYROIDISM | F-BOX | DIFFERENTIATION | MISSING-HOMOLOG | Transcription Factors - chemistry | Humans | Ubiquitin - metabolism | Hypoparathyroidism - pathology | Drosophila Proteins - metabolism | DNA-Binding Proteins - metabolism | Neuroglia - cytology | Ubiquitination - drug effects | Protein Kinase C - metabolism | Phosphorylation - drug effects | Protein Stability | Nuclear Proteins - genetics | Drosophila Proteins - antagonists & inhibitors | Nuclear Proteins - metabolism | DNA - metabolism | Drosophila Proteins - chemistry | Transcription Factors - genetics | DNA-Binding Proteins - genetics | DNA-Binding Proteins - chemistry | Hypoparathyroidism - metabolism | Transcription Factors - metabolism | Leupeptins - pharmacology | Animals | Protein Binding | Neuroglia - metabolism | Polymorphism, Single Nucleotide | Drosophila - metabolism | Drosophila Proteins - genetics | Proteasome Endopeptidase Complex - metabolism | Ubiquitin | Phosphorylation | Protein kinase C | GCM protein | Transcription | Gliogenesis | Glial cells | Kinases | Neuronal-glial interactions | Protein turnover | Proteins | Ubiquitination | Placenta | Insects | Hypoparathyroidism | Proteasomes | Neural stem cells | Mutation | Parathyroid | Deoxyribonucleic acid--DNA
Journal Article
American Journal of Hematology, ISSN 0361-8609, 12/2014, Volume 89, Issue 12, pp. 1102 - 1106
Iron overload in β‐thalassemia major (TM) typically results in iron‐induced cardiomyopathy, liver disease, and endocrine complications. We examined the... 
IMPACT | TRANSFUSIONAL IRON OVERLOAD | MRI | MASS | REPLACEMENT THERAPY | IMPROVEMENT | COMPLICATIONS | PREVALENCE | HEMATOLOGY | HYPOGONADISM | NORTH-AMERICA | Diabetes Mellitus - pathology | Hypothyroidism - pathology | Hypothyroidism - metabolism | Benzoates - therapeutic use | Humans | Middle Aged | Child, Preschool | Male | Puberty, Delayed - metabolism | Iron Overload - etiology | Osteoporosis - metabolism | Hypogonadism - metabolism | Bone and Bones - metabolism | Diphosphonates - therapeutic use | Child | Triazoles - therapeutic use | Iron Chelating Agents - therapeutic use | Hypoparathyroidism - metabolism | beta-Thalassemia - drug therapy | Puberty, Delayed - pathology | Diabetes Mellitus - prevention & control | Osteoporosis - pathology | Adolescent | beta-Thalassemia - metabolism | Hypogonadism - etiology | beta-Thalassemia - pathology | Bone and Bones - pathology | Iron Overload - drug therapy | Calcium - administration & dosage | Chelation Therapy | beta-Thalassemia - complications | Hypoparathyroidism - pathology | Hypoparathyroidism - prevention & control | Iron Overload - pathology | Osteoporosis - etiology | Bone and Bones - drug effects | Hypogonadism - prevention & control | Iron Overload - metabolism | Puberty, Delayed - etiology | Adult | Diabetes Mellitus - etiology | Female | Vitamin D - administration & dosage | Retrospective Studies | Hypothyroidism - prevention & control | Hypogonadism - pathology | Bone Density | Osteoporosis - prevention & control | Diabetes Mellitus - metabolism | Hypothyroidism - etiology | Puberty, Delayed - prevention & control | Hypoparathyroidism - etiology
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 06/2010, Volume 120, Issue 6, pp. 2144 - 2155
Journal Article
Cellular and Molecular Life Sciences, ISSN 1420-682X, 06/2010, Volume 67, Issue 12, pp. 2025 - 2038
Mutation of tubulin chaperone E (TBCE) underlies hypoparathyroidism, retardation, and dysmorphism (HRD) syndrome with defective microtubule (MT) cytoskeleton.... 
CAP-Gly | Pac2 | Rpn1 | Rpn10 | TBCE | Ubiquitin-like domain | Proteasome | HO ENDONUCLEASE | DOMAIN | MULTIUBIQUITIN-CHAIN-BINDING | E TBCE | PROGRESSIVE-MOTOR-NEURONOPATHY | BIOCHEMISTRY & MOLECULAR BIOLOGY | COFACTOR-B | 26S PROTEASOME | SACCHAROMYCES-CEREVISIAE | CELL BIOLOGY | MISSENSE MUTATION | DEGRADATION | F-Box-WD Repeat-Containing Protein 7 | Molecular Chaperones - metabolism | Humans | Ubiquitin - metabolism | Tubulin - genetics | Hypoparathyroidism - genetics | Intellectual Disability - genetics | Intellectual Disability - metabolism | Microtubules - metabolism | Tubulin - metabolism | Cell Cycle Proteins - genetics | Dimerization | Amino Acid Sequence | F-Box Proteins - metabolism | Cell Cycle Proteins - metabolism | Cytoskeleton - genetics | Molecular Chaperones - genetics | Ubiquitin-Protein Ligases - metabolism | Ubiquitin - genetics | Molecular Chaperones - physiology | Hypoparathyroidism - metabolism | Syndrome | Proteasome Endopeptidase Complex - genetics | Proteins - genetics | Proteins - metabolism | Microtubules - genetics | Cytoskeleton - metabolism | Mutation | Proteasome Endopeptidase Complex - metabolism | Ubiquitin-Protein Ligases - genetics | F-Box Proteins - genetics | Ubiquitin | Universities and colleges | Tubulins | Parathyroid hormone | Ligases | Cellular biology | Molecular biology | Protein folding | Binding sites
Journal Article