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science & technology (553) 553
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rab gtp-binding proteins - metabolism (391) 391
animals (375) 375
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phosphorylation (25) 25
rab gtp-binding proteins (25) 25
rab27a (25) 25
gene expression regulation (24) 24
homeostasis (24) 24
immunologic deficiency syndromes - genetics (24) 24
mutation - genetics (24) 24
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Journal Article
Open biology, ISSN 2046-2441, 06/2015, Volume 5, Issue 6, pp. 150047 - 150047
RAB18 | GEF | RAB | Ras | GAP | Rab | Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Abnormalities, Multiple - etiology | Humans | Cataract - pathology | Endoplasmic Reticulum - metabolism | rab GTP-Binding Proteins - genetics | Guanosine Triphosphate - metabolism | Case-Control Studies | Intellectual Disability - metabolism | Optic Atrophy - pathology | Flow Cytometry | Optic Atrophy - etiology | rab3 GTP-Binding Proteins - metabolism | Hypogonadism - metabolism | Optic Atrophy - metabolism | Microcephaly - pathology | Cornea - pathology | Real-Time Polymerase Chain Reaction | Fibroblasts - metabolism | Hypogonadism - pathology | rab GTP-Binding Proteins - metabolism | rab1 GTP-Binding Proteins - metabolism | Cataract - etiology | RNA, Messenger - genetics | Cells, Cultured | Gene Expression Regulation | Intellectual Disability - pathology | Microcephaly - metabolism | Cataract - metabolism | Fibroblasts - pathology | Reverse Transcriptase Polymerase Chain Reaction | Blotting, Western | Mice, Knockout | rab1 GTP-Binding Proteins - genetics | Hydrolysis | rab3 GTP-Binding Proteins - genetics | Cornea - metabolism | Animals | Cataract - congenital | Fluorescent Antibody Technique | Microcephaly - etiology | Cytosol - metabolism | Mice | Cornea - abnormalities | HeLa Cells | Intellectual Disability - etiology | Hypogonadism - etiology | Index Medicus | gef | rab | ras | rab18 | gap
Journal Article
Blood, ISSN 0006-4971, 2009, Volume 114, Issue 19, pp. 4117 - 4127
Journal Article
Neuron (Cambridge, Mass.), ISSN 0896-6273, 02/2013, Volume 77, Issue 3, pp. 425 - 439
Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | rab5 GTP-Binding Proteins - genetics | Immunoprecipitation | Humans | Middle Aged | Cerebral Cortex - pathology | Male | Tubulin - genetics | rab GTP-Binding Proteins - genetics | Green Fluorescent Proteins - genetics | Statistics as Topic | Vesicle-Associated Membrane Protein 2 - genetics | Cerebral Cortex - cytology | Tyrosine 3-Monooxygenase | rab5 GTP-Binding Proteins - metabolism | Tubulin - metabolism | Transfection | Aged, 80 and over | Female | Neurons - metabolism | Parkinson Disease - metabolism | Protein-Serine-Threonine Kinases - metabolism | Animals, Newborn | Synaptosomal-Associated Protein 25 - genetics | rab GTP-Binding Proteins - metabolism | Genetic Predisposition to Disease | Genome-Wide Association Study | Parkinson Disease - pathology | Animals, Genetically Modified | Drosophila | Cells, Cultured | Protein-Serine-Threonine Kinases - genetics | Rats | Parkinson Disease - genetics | Mutation - genetics | Rats, Sprague-Dawley | Protein Transport - genetics | Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 | Animals | Polymorphism, Single Nucleotide - genetics | Aged | Mice | Synaptosomal-Associated Protein 25 - metabolism | Vesicle-Associated Membrane Protein 2 - metabolism | Parkinson's disease | Neurons | Genomics | Risk factors | Brain | Laboratories | Parkinsons disease | Kinases | Gene expression | Experiments | Defects | Proteins | Pathology | Insects | Neurodegeneration | Gene loci | Mutation | Index Medicus
Journal Article
The Journal of neuroscience, ISSN 0270-6474, 02/2012, Volume 32, Issue 8, pp. 2628 - 2636
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2014, Volume 135, Issue 5, pp. 1310 - 1318.e1
Allergy and Immunology | Griscelli syndrome type 2 | melanophilin | Hemophagocytic lymphohistiocytosis | familial hemophagocytic lymphohistiocytosis | natural killer cells | cytotoxic T lymphocyte | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Perforin - genetics | Humans | Child, Preschool | Infant | Male | rab GTP-Binding Proteins - genetics | Case-Control Studies | Skin Pigmentation - genetics | DNA Mutational Analysis | Female | Membrane Proteins - metabolism | Lymphohistiocytosis, Hemophagocytic - genetics | Child | rab GTP-Binding Proteins - metabolism | Cell Line | Gene Expression | Cell Degranulation | Lymphohistiocytosis, Hemophagocytic - diagnosis | Models, Molecular | Genetic Markers | Phenotype | Membrane Proteins - chemistry | Lymphohistiocytosis, Hemophagocytic - metabolism | Adolescent | Albinism - genetics | Protein Binding | rab27 GTP-Binding Proteins | Protein Conformation | rab GTP-Binding Proteins - chemistry | Mutation | Adaptor Proteins, Signal Transducing - metabolism | Cohort Studies | Cytotoxicity, Immunologic | Transplantation | Hematopoietic stem cells | Proteins | Stem cells | Amino acids | Cytotoxicity | Patients | Immune system | Index Medicus | Abridged Index Medicus | Immune Deficiencies, Infection, and Systemic Immune Disorders | Slp2a, Synaptotagmin-like protein 2a | GRA, Granule release assay | GFP, Green fluorescent protein | GTP, Guanosine triphosphate | GS2, Griscelli syndrome type 2 | FHL, Familial Hemophagocytic lymphohistiocytosis | OMIM, Online Mendelian Inheritance in Man | HLH, Hemophagocytic lymphohistiocytosis | CTL, Cytotoxic T lymphocyte | Mlph, melanophilin | NK, Natural killer
Journal Article
Blood, ISSN 0006-4971, 04/2013, Volume 121, Issue 15, pp. 2943 - 2951
Journal Article