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Drugs, ISSN 0012-6667, 8/2017, Volume 77, Issue 12, pp. 1295 - 1311
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 12/2017, Volume 26, Issue 23, pp. 4657 - 4667
Joubert syndrome (JBTS) is the archetypal ciliopathy caused by mutation of genes encoding ciliary proteins leading to multisystem phenotypes, including a... 
LOCALIZATION | ACTIVATION | CILIOPATHIES | PATHWAY | POLYCYSTIC KIDNEY-DISEASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | LENGTH | GENETICS & HEREDITY | MUTATIONS | CEP290 | CENTROSOMAL PROTEIN | FEATURES | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Polycystic Kidney Diseases - genetics | Retina - metabolism | Epithelial Cells - drug effects | Eye Abnormalities - drug therapy | Humans | Child, Preschool | Kidney Diseases, Cystic - drug therapy | Male | Abnormalities, Multiple - drug therapy | Cerebellum - abnormalities | Neoplasm Proteins - metabolism | Ciliopathies - drug therapy | Cyclin-Dependent Kinase 5 - genetics | Ciliopathies - genetics | Kidney Failure, Chronic - pathology | Antigens, Neoplasm - metabolism | Cilia - drug effects | Kidney Diseases, Cystic - genetics | Roscovitine | Purines - therapeutic use | Neoplasm Proteins - genetics | Child | Eye Abnormalities - metabolism | Abnormalities, Multiple - genetics | Morpholines - therapeutic use | Antigens, Neoplasm - genetics | Cilia - pathology | Signal Transduction | Cerebellum - metabolism | Epithelial Cells - pathology | Eye Abnormalities - genetics | Cilia - metabolism | Cerebellum - pathology | Cilia - genetics | Cyclin-Dependent Kinase 5 - metabolism | Kidney Diseases, Cystic - pathology | Kidney Failure, Chronic - metabolism | Kidney Failure, Chronic - genetics | Kidney Diseases, Cystic - metabolism | Ciliopathies - metabolism | Eye Abnormalities - pathology | Pedigree | Retina - abnormalities | Mutation | Primary Cell Culture | Retina - pathology
Journal Article
Current Osteoporosis Reports, ISSN 1544-1873, 8/2017, Volume 15, Issue 4, pp. 255 - 270
We give an update on the etiology and potential treatment options of rare inherited monogenic disorders associated with arterial calcification and calcific... 
GACI | Medicine & Public Health | Orthopedics | Phosphate | ABCC6 | Pyrophosphate | ENPP1 | PXE | Epidemiology | Arterial calcification | FAMILIAL TUMORAL CALCINOSIS | OF-FUNCTION MUTATION | SINGLETON-MERTEN SYNDROME | KLOTHO-DEFICIENT MICE | BASAL GANGLIA CALCIFICATION | MATRIX GLA PROTEIN | CONNECTIVE-TISSUE MINERALIZATION | CAUSE PSEUDOXANTHOMA ELASTICUM | HUTCHINSON-GILFORD-PROGERIA | ENDOCRINOLOGY & METABOLISM | SMOOTH-MUSCLE-CELLS | Humans | Dental Enamel Hypoplasia - drug therapy | Metacarpus - abnormalities | Basal Ganglia Diseases - drug therapy | Aortic Diseases - metabolism | Hyperostosis, Cortical, Congenital - metabolism | Vascular Calcification - metabolism | Cartilage Diseases - genetics | Osteoporosis - metabolism | Muscular Diseases - drug therapy | Osteoporosis - genetics | Abnormalities, Multiple - genetics | Enzyme Replacement Therapy | Calcinosis - drug therapy | Muscular Diseases - metabolism | Vascular Calcification - drug therapy | Hyperostosis, Cortical, Congenital - genetics | Aortic Diseases - genetics | Phosphates - metabolism | Basal Ganglia Diseases - metabolism | Hyperostosis, Cortical, Congenital - drug therapy | Pseudoxanthoma Elasticum - genetics | Interferons - metabolism | Hyperphosphatemia - drug therapy | Hyperphosphatemia - genetics | Pulmonary Valve Stenosis - metabolism | Dental Enamel Hypoplasia - genetics | Cartilage Diseases - metabolism | Abnormalities, Multiple - metabolism | Calcinosis - genetics | Metacarpus - metabolism | Diphosphates - metabolism | Odontodysplasia - metabolism | Vascular Calcification - genetics | Hyperphosphatemia - metabolism | Osteoporosis - drug therapy | Abnormalities, Multiple - drug therapy | Progeria - metabolism | Cartilage Diseases - drug therapy | Progeria - drug therapy | Basal Ganglia Diseases - genetics | Hand Deformities, Congenital - metabolism | Dental Enamel Hypoplasia - metabolism | Calcinosis - metabolism | Gaucher Disease - drug therapy | Pseudoxanthoma Elasticum - metabolism | Pulmonary Valve Stenosis - genetics | Gaucher Disease - metabolism | Pseudoxanthoma Elasticum - drug therapy | Progeria - genetics | Hand Deformities, Congenital - drug therapy | Aortic Diseases - drug therapy | Gaucher Disease - genetics | Hand Deformities, Congenital - genetics | Odontodysplasia - drug therapy | Odontodysplasia - genetics | Muscular Diseases - genetics | Pulmonary Valve Stenosis - drug therapy | Phosphates | Calcification | Medicine, Experimental | Medical research | Interferon
Journal Article
Human Mutation, ISSN 1059-7794, 07/2014, Volume 35, Issue 7, pp. 841 - 850
Journal Article
Journal Article
Pediatric Dermatology, ISSN 0736-8046, 01/2013, Volume 30, Issue 1, pp. 71 - 89
Journal Article