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The Journal of pathology, ISSN 1096-9896, 2019, Volume 248, Issue 4, pp. 396 - 408
.... Mutations in KIAA0856 have been recently identified in JS patients. Herein, we describe a novel mouse JS model with a conditional deletion of the conserved exons 11... 
sonic hedgehog | ataxia | KIAA0586 | Joubert syndrome | primary cilia | cerebellum | ENCODES | PATHOLOGY | CENTROSOMAL PROTEIN | GENE | ONCOLOGY | EXPANSION | CEREBELLAR DEVELOPMENT | CILIOPATHY | MUTATIONS | CEP290 | REVEALS | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Mice, Knockout - genetics | Sequence Deletion | Retina - metabolism | Exons | Cerebellum - abnormalities | Cell Cycle Proteins - genetics | Kidney Diseases, Cystic - genetics | Eye Abnormalities - metabolism | Abnormalities, Multiple - genetics | Disease Models, Animal | Cerebellum - metabolism | Cell Cycle Proteins - deficiency | Genetic Markers | Eye Abnormalities - genetics | Cerebellum - pathology | Kidney Diseases, Cystic - pathology | Kidney Diseases, Cystic - metabolism | Phenotype | Animals | Eye Abnormalities - pathology | Retina - abnormalities | Mice | Retina - pathology | Cerebellum | Brain | Animal models | Leukocyte migration | Congenital defects | Disorientation | Central nervous system | Neurodevelopmental disorders | Defects | Cell adhesion & migration | Genotype & phenotype | Signal transduction | Hemispheres | Clonal deletion | Clusters | Ataxia | Cilia | Phenotypes | Neurons | Granule cells | Molecular modelling | Hedgehog protein | Granular materials | Mutation | Cell migration | Synapses | Original Papers | Original Paper
Journal Article
Medicine (Baltimore), ISSN 0025-7974, 07/2019, Volume 98, Issue 27, p. e16302
Researchers have evaluated the associations between mitochondrial DNA (mtDNA) 4977 bp deletion and presbycusis... 
Presbycusis - genetics | DNA, Mitochondrial - genetics | Humans | Case-Control Studies | Sequence Deletion - genetics | Genetic research | Mitochondrial DNA | Research | Health aspects | Presbycusis
Journal Article
Journal Article
Science (American Association for the Advancement of Science), ISSN 1095-9203, 2010, Volume 329, Issue 5987, pp. 85 - 89
T cells develop in the thymus and are critical for adaptive immunity. Natural killer (NK) lymphocytes constitute an essential component of the innate immune... 
T lymphocytes | Beta cells | Thymocytes | Stromal cells | REPORTS | Cell lines | Stem cells | Natural killer cells | Tissue therapy | Cells | Tumors | SURVIVAL | IN-VITRO | NK CELLS | RECOGNITION | VIVO | PATHWAY | MULTIDISCIPLINARY SCIENCES | H-2-DEFICIENT LYMPHOMA VARIANTS | DIFFERENTIATION | EXPRESSION | T-Lymphocytes - physiology | Oligonucleotide Array Sequence Analysis | Coculture Techniques | Lymphopoiesis - genetics | Gene Expression Profiling | Genes, T-Cell Receptor beta | T-Lymphocytes - transplantation | Melanoma, Experimental - immunology | Gene Expression Regulation, Developmental | Gene Deletion | Tumor Suppressor Proteins - genetics | Killer Cells, Natural - immunology | Precursor Cells, T-Lymphoid - cytology | Repressor Proteins - metabolism | Precursor Cells, T-Lymphoid - physiology | Tumor Suppressor Proteins - metabolism | Signal Transduction | Melanoma, Experimental - therapy | Mice, Inbred C57BL | Cells, Cultured | Repressor Proteins - genetics | Killer Cells, Natural - physiology | Gene Knock-In Techniques | Mice, Knockout | Cell Lineage | Killer Cells, Natural - cytology | Animals | T-Lymphocytes - cytology | Tamoxifen - pharmacology | Cell Line, Tumor | Tamoxifen - analogs & derivatives | T-Lymphocytes - immunology | Mice | Receptors, Antigen, T-Cell, alpha-beta - metabolism | Stromal Cells - physiology | Stromal Cells - cytology | Cytotoxicity, Immunologic | Killer cells | Genetic aspects | T cells | Cancer cells | Cellular biology | Gene expression | Lymphocytes
Journal Article
Nature neuroscience, ISSN 1546-1726, 2013, Volume 16, Issue 9, pp. 1228 - 1237
Journal Article
Journal Article