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The American Journal of Human Genetics, ISSN 0002-9297, 10/2017, Volume 101, Issue 4, pp. 552 - 563
The Sonic Hedgehog (SHH) pathway is a key signaling pathway orchestrating embryonic development, mainly of the CNS and limbs. In vertebrates, SHH signaling is... 
polymicrogyria | developmental defects | hypomorphic variants | congenital ataxia | ciliopathies | SUFU | Joubert syndrome | Sonic Hedgehog | molar tooth sign | GLI3 | SHH | SIGNALING PATHWAY | GENETICS & HEREDITY | PLANAR CELL POLARITY | CEREBELLAR DEVELOPMENT | GLI PROTEINS | MUTATIONS | KIF7 | MEDULLOBLASTOMA | PHENOTYPIC SPECTRUM | PRIMARY CILIA | Abnormalities, Multiple - pathology | Skin - metabolism | Humans | Zinc Finger Protein Gli3 | Hedgehog Proteins - metabolism | Male | Bone Diseases, Developmental - genetics | Mutation, Missense | Cerebellum - abnormalities | Bone Diseases, Developmental - pathology | Gene Expression Regulation, Developmental | Kruppel-Like Transcription Factors - metabolism | Kidney Diseases, Cystic - genetics | Craniofacial Abnormalities - pathology | Female | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Repressor Proteins - metabolism | Skin - pathology | Fibroblasts - metabolism | Repressor Proteins - chemistry | Signal Transduction | Cells, Cultured | Repressor Proteins - genetics | Eye Abnormalities - genetics | Fibroblasts - pathology | Genes, Recessive | Sequence Analysis, DNA | Cerebellum - pathology | Kidney Diseases, Cystic - pathology | Nerve Tissue Proteins - metabolism | Eye Abnormalities - pathology | Retina - abnormalities | Retina - pathology | Cohort Studies | Embryonic development | Usage | Gene mutations | Analysis | Nucleotide sequencing | Research | Diagnosis | Children | Health aspects | DNA sequencing | Index Medicus
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
Clinical & Experimental Ophthalmology, ISSN 1442-6404, 03/2009, Volume 37, Issue 2, pp. 223 - 231
Purpose:  The aim of this study is to investigate markers of inflammation and oxidative stress in an early model of diabetic retinopathy, correlate retinal and... 
pericyte | diabetic retinopathy | inflammation | microglia | oxidative stress | Diabetic retinopathy | Oxidative stress | Pericyte | Inflammation | Microglia | CELLS | ANGIOGENESIS | ANTIOXIDANTS | DEATH | DAMAGE | PATHWAY | DISEASE | OPHTHALMOLOGY | RETINOPATHY | Retina - drug effects | Diabetic Retinopathy - drug therapy | Inflammation - pathology | Microglia - metabolism | Diabetes Mellitus, Experimental - drug therapy | Retina - metabolism | Oxidative Stress | Rats, Wistar | Tumor Necrosis Factor-alpha - blood | Superoxide Dismutase - blood | Male | Diabetic Retinopathy - pathology | Immunoenzyme Techniques | Inflammation - metabolism | Pericytes - pathology | Microglia - pathology | Free Radical Scavengers - therapeutic use | Acetylcysteine - therapeutic use | Diabetes Mellitus, Experimental - metabolism | Fluorescent Antibody Technique, Indirect | Enzyme-Linked Immunosorbent Assay | Macrophages - pathology | Pericytes - metabolism | Rats | Biomarkers - blood | Diabetic Retinopathy - metabolism | Macrophages - metabolism | Animals | Endothelium, Vascular - metabolism | Diabetes Mellitus, Experimental - pathology | Endothelium, Vascular - pathology | Isoprostanes - blood | Pericytes, metabolism | Endothelium, Vascular, metabolism | Microglia, metabolism | Superoxide Dismutase, blood | Diabetic Retinopathy, pathology | Isoprostanes, blood | Tumor Necrosis Factor-alpha, blood | Acetylcysteine, therapeutic use | Endothelium, Vascular, pathology | Inflammation, metabolism | Inflammation, pathology | Diabetic Retinopathy, metabolism | Diabetes Mellitus, Experimental, drug therapy | Macrophages, pathology | Retina, drug effects | Retina, metabolism | Diabetes Mellitus, Experimental, pathology | Pericytes, pathology | Diabetic Retinopathy, drug therapy | Diabetes Mellitus, Experimental, metabolism | Biological Markers, blood | Macrophages, metabolism | Microglia, pathology | Free Radical Scavengers, therapeutic use | Streptozocin | Heme | Acetylcysteine | Superoxide dismutase | Superoxide | Ophthalmology | Universities and colleges | Macrophages | Vascular endothelial growth factor | Endothelium | Index Medicus
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2009, Volume 4, Issue 1, pp. e4317 - e4317
Journal Article
Diabetes, ISSN 0012-1797, 09/2018, Volume 67, Issue 9, pp. 1867 - 1879
Intermittent fasting (IF) protects against the development of metabolic diseases and cancer, but whether it can prevent diabetic microvascular complications is... 
DIABETIC-RETINOPATHY | BILE-ACID | CELLS | ACTIVATION | BACTERIA | OBESITY | METABOLISM | FARNESOID X RECEPTOR | C57BL/6 MICE | ENDOCRINOLOGY & METABOLISM | TAUROURSODEOXYCHOLIC ACID | Retina - drug effects | Leukocytes - pathology | Receptors, G-Protein-Coupled - metabolism | Colon - drug effects | Microvessels - metabolism | Microvessels - pathology | Colon - immunology | Male | Ganglia, Sensory - metabolism | Retina - immunology | Intestinal Mucosa - drug effects | Diabetic Retinopathy - complications | Retinal Vessels - pathology | Feces - microbiology | Intestinal Mucosa - immunology | Bacteroidetes - isolation & purification | Firmicutes - growth & development | Diabetic Retinopathy - immunology | Firmicutes - isolation & purification | Retinal Vessels - metabolism | Colon - pathology | Retinal Vessels - drug effects | Dysbiosis - therapy | Goblet Cells - metabolism | Colon - metabolism | Ganglia, Sensory - pathology | Diabetic Retinopathy - prevention & control | Gastrointestinal Microbiome - drug effects | Bile Acids and Salts - therapeutic use | Survival Analysis | Leukocytes - drug effects | Diabetes Mellitus, Type 2 - pathology | Dysbiosis - pathology | Retina - pathology | Intestinal Mucosa - pathology | Intestinal Mucosa - metabolism | Retina - metabolism | Diabetes Mellitus, Type 2 - microbiology | Ganglia, Sensory - drug effects | Goblet Cells - drug effects | Diabetic Retinopathy - pathology | Receptors, G-Protein-Coupled - agonists | Dysbiosis - microbiology | Microvessels - immunology | Ganglia, Sensory - immunology | Goblet Cells - immunology | Leukocytes - immunology | Retinal Vessels - immunology | Mice, Mutant Strains | Diabetes Mellitus, Type 2 - therapy | Bacteroidetes - immunology | Mice, Inbred DBA | Verrucomicrobia - growth & development | Verrucomicrobia - immunology | Diabetes Mellitus, Type 2 - complications | Fasting | Microvessels - drug effects | Firmicutes - immunology | Verrucomicrobia - isolation & purification | Dysbiosis - complications | Animals | Bacteroidetes - growth & development | Gastrointestinal Microbiome - immunology | Goblet Cells - pathology | Prevention | Diabetic retinopathy | Usage | Diet therapy | Low-calorie diet | Rattus | Rats | Health aspects | Neuroprotection | Retinopathy | Diabetes mellitus | Peptidoglycans | Microbiomes | Retina | mRNA | Tumor necrosis factor-α | Feeding | Microbiota | Mucin | Metabolites | Cell number | Rodents | Hemoglobin | Microvasculature | Diabetes | Capillaries | Ganglion cells | Bile | Cancer | Index Medicus | Abridged Index Medicus
Journal Article
American Journal of Pathology, The, ISSN 0002-9440, 2008, Volume 172, Issue 5, pp. 1411 - 1418
Journal Article
Journal Article
Brain Research, ISSN 0006-8993, 2009, Volume 1303, pp. 131 - 143
Abstract Transsynaptic degeneration has been implicated in patients with primary open angle glaucoma (POAG) and animal models of chronic intraocular... 
Neurology | Visual system | Neural plasticity | Glial fibrillary acidic protein (GFAP) | Ischemia | Acute intraocular hypertension | Superior colliculus (SC) | Transsynaptic degeneration | Neuronal death | Degenerative disease | Glia and other non-neuronal cells | Lateral geniculate nucleus (LGN) | Glutamine synthetase (GS) | OPTIC-NERVE | EXPERIMENTAL GLAUCOMA | ASTROCYTES | NEUROSCIENCES | LATERAL GENICULATE-NUCLEUS | PARVOCELLULAR LAYERS | SUPERIOR COLLICULUS | RETINAL GANGLION-CELLS | FIBRILLARY ACIDIC PROTEIN | MULLER CELL | BRAIN | Rats, Wistar | Visual Pathways - physiopathology | Neuroglia - pathology | Nerve Degeneration - physiopathology | Retinal Degeneration - etiology | Gliosis - physiopathology | Synapses - pathology | Glial Fibrillary Acidic Protein - metabolism | Geniculate Bodies - pathology | Geniculate Bodies - physiopathology | Retinal Ganglion Cells - pathology | Gliosis - pathology | Female | Visual Pathways - pathology | Glutamate-Ammonia Ligase - metabolism | Glaucoma - physiopathology | Gliosis - etiology | Disease Models, Animal | In Situ Nick-End Labeling | Acute Disease | Retina - physiopathology | Rats | Retinal Degeneration - physiopathology | Glaucoma - complications | Disease Progression | Nerve Degeneration - pathology | Superior Colliculi - physiopathology | Animals | Superior Colliculi - pathology | Axons - pathology | Glaucoma - pathology | Apoptosis - physiology | Nerve Degeneration - etiology | Retinal Degeneration - pathology | Early Diagnosis | Retina - pathology | Index Medicus
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2016, Volume 11, Issue 1, pp. e0146829 - e0146829
Diabetic retinopathy is a sight-threatening complication of diabetes, affecting 65% of patients after 10 years of the disease. Diabetic metabolic insult leads... 
PATHOGENESIS | ENDOTHELIAL PROGENITOR CELLS | MICROGLIAL RESPONSE | DENDRITIC CELLS | MULTIDISCIPLINARY SCIENCES | HEMATOPOIETIC STEM-CELLS | MONOCYTES | BLOOD-VESSEL FORMATION | MOUSE RETINA | DIFFERENTIATION | SDF-1/CXCR4 AXIS | Green Fluorescent Proteins - metabolism | Inflammation - pathology | Diabetic Retinopathy - immunology | Bone Marrow Cells - cytology | Cell Count | Mice, Inbred C57BL | Dendritic Cells - pathology | Microvessels - drug effects | Microvessels - pathology | Male | Diabetic Retinopathy - pathology | Animals | Bone Marrow Transplantation | Lipopolysaccharides - pharmacology | Monocytes - pathology | Microglia - pathology | Endothelial Cells - pathology | Spleen - pathology | Retina - pathology | Chimera | Bone marrow | Diabetic retinopathy | Complications and side effects | Development and progression | Diabetes | Health aspects | Homing behavior | Neurosciences | Retinopathy | Leukocyte migration | Laboratories | Streptozocin | Retina | Transplantation | Biology | Activation | Lipopolysaccharides | Homing | Angiogenesis | Cell activation | Splenocytes | Rodents | Physiology | Repair | Drug dosages | Spleen | Dendritic cells | Diabetes mellitus | Markers | Inflammation | Progenitor cells | Endothelial cells | Microglia | Pathology | Monocytes | Stem cells | Cells (biology) | Infiltration | Bone | Cell migration | Integrins | Index Medicus
Journal Article