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Human Molecular Genetics, ISSN 0964-6906, 04/2013, Volume 22, Issue 7, pp. 1358 - 1372
The ciliopathies are a group of heterogeneous diseases with considerable variations in phenotype for allelic conditions such as Meckel-Gruber syndrome (MKS)... 
Polycystic Kidney Diseases - genetics | Humans | Hedgehog Proteins - metabolism | Mice, 129 Strain | Cerebellum - abnormalities | Encephalocele - metabolism | Polycystic Kidney Diseases - pathology | Retinitis Pigmentosa | Dishevelled Proteins | Eye Abnormalities - metabolism | Wnt Signaling Pathway | Disease Models, Animal | Polycystic Kidney Diseases - metabolism | Cerebellar Diseases - metabolism | Membrane Proteins - genetics | Abnormalities, Multiple | Mice, Knockout | Kidney Diseases, Cystic - metabolism | Luciferases, Firefly - biosynthesis | Phenotype | Ciliary Motility Disorders - pathology | Eye Abnormalities - pathology | Mice | Retina - pathology | Retina - metabolism | Neural Tube Defects - genetics | Neural Tube Defects - pathology | Neural Tube Defects - metabolism | Phosphoproteins - metabolism | Membrane Proteins - deficiency | Cerebellar Diseases - pathology | HEK293 Cells | Kidney Diseases, Cystic - genetics | Genes, Reporter | Encephalocele - genetics | Cilia - pathology | Mice, Inbred C57BL | Gene Expression Regulation | Eye Abnormalities - genetics | Kidney Diseases, Cystic - pathology | Protein Transport | Animals | Cerebellar Diseases - genetics | Encephalocele - pathology | Retina - abnormalities | Luciferases, Firefly - genetics | Ciliary Motility Disorders - metabolism | Adaptor Proteins, Signal Transducing - metabolism | Body Patterning - genetics | Ciliary Motility Disorders - genetics | Index Medicus
Journal Article
PLoS Genetics, ISSN 1553-7390, 2013, Volume 9, Issue 12, pp. e1003977 - e1003977
Cilia are microtubule-based cell appendages, serving motility, chemo-/mechano-/photo- sensation, and developmental signaling functions. Cilia are comprised of... 
COMPLEX | CAENORHABDITIS-ELEGANS | TRANSITION ZONE | ARL13B | SIGNALING PROTEINS | GENETICS & HEREDITY | TRAFFICKING | C-ELEGANS | CILIOGENESIS | SENSORY CILIA | INTRAFLAGELLAR TRANSPORT | Polycystic Kidney Diseases - genetics | Cytoskeletal Proteins - genetics | Humans | Biological Transport, Active - genetics | Cerebellum - abnormalities | Membranes - metabolism | Polycystic Kidney Diseases - pathology | Retinitis Pigmentosa | Cerebellar Diseases - pathology | Bardet-Biedl Syndrome - pathology | Kidney Diseases, Cystic - genetics | Bardet-Biedl Syndrome - genetics | Cytoskeletal Proteins - metabolism | ADP-Ribosylation Factors - metabolism | ADP-Ribosylation Factors - genetics | Encephalocele - genetics | Caenorhabditis elegans - metabolism | Caenorhabditis elegans - genetics | Abnormalities, Multiple | Transcription Factors - genetics | Eye Abnormalities - genetics | Cilia - metabolism | Cilia - genetics | Kidney Diseases, Cystic - pathology | Transcription Factors - metabolism | Animals | Cerebellar Diseases - genetics | Ciliary Motility Disorders - pathology | Encephalocele - pathology | Eye Abnormalities - pathology | Retina - abnormalities | Retina - pathology | Ciliary Motility Disorders - genetics | Cilia and ciliary motion | Biological transport, Active | Joubert syndrome | Physiological aspects | Genetic research | Genetic aspects | Research | Health aspects | Index Medicus | Proteins | Studies | Genotype & phenotype | Membranes | Motility | Peptides | Proteomics | Diffusion | Experiments
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 04/2012, Volume 122, Issue 4, pp. 1316 - 1338
While a potential causal factor in Alzheimer's disease (AD), brain insulin resistance has not been demonstrated directly in that disorder. We provide such a... 
MEDICINE, RESEARCH & EXPERIMENTAL | SKELETAL-MUSCLE | RECEPTOR SUBSTRATE-1 IRS-1 | TYROSINE PHOSPHORYLATION | GLUCOSE-TRANSPORTER | A-BETA | CENTRAL-NERVOUS-SYSTEM | RAT-BRAIN | TYPE-2 DIABETES-MELLITUS | GROWTH-FACTOR-I | AMYLOID-BETA OLIGOMERS | Insulin-Like Growth Factor I - pharmacology | Phosphorylation | Apolipoprotein E4 - genetics | Cerebellar Cortex - metabolism | Humans | Middle Aged | Cognition Disorders - metabolism | Male | Alzheimer Disease - pathology | Brain - metabolism | Cognition Disorders - etiology | Aged, 80 and over | Female | Insulin Receptor Substrate Proteins - genetics | Insulin Receptor Substrate Proteins - chemistry | Alzheimer Disease - psychology | Drug Resistance | Insulin - pharmacology | Signal Transduction | Insulin Receptor Substrate Proteins - physiology | Insulin Resistance | Hippocampus - pathology | Recombinant Proteins - pharmacology | Phosphoserine - metabolism | Diabetes Complications - complications | Brain - drug effects | Hippocampus - metabolism | Insulin - metabolism | Insulin-Like Growth Factor I - physiology | Cerebellar Cortex - pathology | Alzheimer Disease - metabolism | Brain - pathology | Glucose - metabolism | Aged | Protein Processing, Post-Translational | Care and treatment | Insulin resistance | Insulin-like growth factors | Cellular signal transduction | Diagnosis | Research | Properties | Alzheimer's disease | Index Medicus | Abridged Index Medicus
Journal Article
Brain and Development, ISSN 0387-7604, 04/2018, Volume 40, Issue 4, pp. 259 - 267
Journal Article
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 11/2013, Volume 369, Issue 20, pp. 1904 - 1914
Journal Article