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Journal of Cell Biology, ISSN 0021-9525, 03/2011, Volume 192, Issue 6, pp. 1023 - 1041
Meckel-Gruber syndrome (MKS), nephronophthisis (NPHP), and related ciliopathies present with overlapping phenotypes and display considerable allelism between... 
DISEASE GENES | PHOTORECEPTOR CONNECTING CILIUM | BARDET-BIEDL-SYNDROME | RIGHT AXIS DETERMINATION | C-ELEGANS | NEMATODE CAENORHABDITIS-ELEGANS | MUTATIONS | JOUBERT SYNDROME | PLASMA-MEMBRANE | INTRAFLAGELLAR TRANSPORT PROTEIN | CELL BIOLOGY | Cilia - physiology | Polycystic Kidney Diseases - genetics | Ciliary Motility Disorders - physiopathology | Humans | Caenorhabditis elegans Proteins - metabolism | Recombinant Fusion Proteins - metabolism | Caenorhabditis elegans - physiology | Polycystic Kidney Diseases - pathology | Polycystic Kidney Diseases - physiopathology | Protein Isoforms - metabolism | Cilia - ultrastructure | Kidney Diseases, Cystic - genetics | Membrane Proteins - metabolism | Encephalocele - genetics | Kidney Diseases, Cystic - physiopathology | Membrane Proteins - genetics | Rats | Encephalocele - physiopathology | Kidney Diseases, Cystic - pathology | Animals | Ciliary Motility Disorders - pathology | Encephalocele - pathology | Recombinant Fusion Proteins - genetics | Caenorhabditis elegans Proteins - genetics | Kidney Diseases, Cystic - congenital | Ciliary Motility Disorders - genetics | Protein Isoforms - genetics | Causes of | Cell physiology | Research | Meckel-Gruber syndrome | Health aspects | Cell cycle | Proteins | Nematodes | Genotype & phenotype | Membranes | Genetic disorders | Cellular biology | Index Medicus | s
Journal Article
Journal Article
05/2018, Contributions to Nephrology, ISBN 3318063495, Volume 195, 11
Hereditary cystic kidney diseases are considered as “ciliopathies” caused by abnormalities of the “primary cilia” situated on the tubules. As a result of... 
Chapter | JOUBERT-SYNDROME | ARPKD | PROTEIN | GENE | MECKEL-SYNDROME | NEPHRONOPHTHISIS | UROLOGY & NEPHROLOGY | CILIOPATHY | MECHANISMS | MUTATIONS | RPGRIP1L | Abnormalities, Multiple - pathology | Leber Congenital Amaurosis - pathology | Polycystic Kidney Diseases - genetics | Optic Atrophies, Hereditary - genetics | Hyperuricemia - pathology | Humans | Polycystic Kidney, Autosomal Dominant - pathology | Anemia - pathology | Optic Atrophies, Hereditary - pathology | Cerebellum - abnormalities | Polycystic Kidney, Autosomal Recessive - genetics | Polycystic Kidney, Autosomal Recessive - pathology | Ciliopathies - genetics | Anemia - genetics | Renin - genetics | Uromodulin - deficiency | Polycystic Kidney Diseases - pathology | Polycystic Kidney, Autosomal Dominant - genetics | Bardet-Biedl Syndrome - pathology | Kidney Diseases, Cystic - genetics | Bardet-Biedl Syndrome - genetics | Uromodulin - genetics | Abnormalities, Multiple - genetics | Encephalocele - genetics | Renal Insufficiency - genetics | Orofaciodigital Syndromes - genetics | Retinitis Pigmentosa - genetics | Leber Congenital Amaurosis - genetics | Eye Abnormalities - genetics | Cerebellum - pathology | Kidney Diseases, Cystic - pathology | Orofaciodigital Syndromes - pathology | Hyperuricemia - genetics | Ciliary Motility Disorders - pathology | Encephalocele - pathology | Eye Abnormalities - pathology | Renal Insufficiency - pathology | Retina - abnormalities | Renin - deficiency | Retina - pathology | Retinitis Pigmentosa - pathology | Ciliary Motility Disorders - genetics | Ciliopathies - pathology
Book Chapter
Journal of Urology, The, ISSN 0022-5347, 2015, Volume 193, Issue 1, pp. 313 - 314
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 | Index Medicus
Journal Article
Journal Article
Journal Article
Journal of the American Society of Nephrology, ISSN 1046-6673, 09/2013, Volume 24, Issue 9, pp. 1435 - 1450
Journal Article