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Trends in Molecular Medicine, ISSN 1471-4914, 2016, Volume 22, Issue 7, pp. 615 - 628
A key aspect of cellular function is the proper assembly and utilization of ribonucleoproteins (RNPs). Recent studies have shown that hyper- or hypo-assembly... 
Pathology | stress granules | dyskeratosis congenita | spinal muscular atrophy | RNA quality control | RNP assembly | therapy | MEDICINE, RESEARCH & EXPERIMENTAL | MYOTONIC-DYSTROPHY TYPE-1 | PRECURSOR RIBOSOMAL-RNA | C9ORF72 REPEAT EXPANSIONS | BIOCHEMISTRY & MOLECULAR BIOLOGY | POLY(A)-SPECIFIC RIBONUCLEASE PARN | CARTILAGE-HAIR HYPOPLASIA | AMYOTROPHIC-LATERAL-SCLEROSIS | DISORDER MOPD I | CELL BIOLOGY | EUKARYOTIC STRESS GRANULES | SPINAL MUSCULAR-ATROPHY | DYSKERATOSIS-CONGENITA | Immunologic Deficiency Syndromes - pathology | Microcephaly - genetics | Scoliosis - genetics | Hair - abnormalities | Humans | Walker-Warburg Syndrome - genetics | Muscular Dystrophies - genetics | Ribonucleoproteins - analysis | Dwarfism - metabolism | Osteochondrodysplasias - genetics | Walker-Warburg Syndrome - metabolism | Hair - pathology | Muscular Atrophy, Spinal - metabolism | Parkinson Disease - pathology | Muscular Dystrophies - metabolism | Hirschsprung Disease - pathology | Fetal Growth Retardation - metabolism | Ribonucleoproteins - metabolism | RNA Stability | Muscular Atrophy, Spinal - pathology | Fetal Growth Retardation - pathology | Osteochondrodysplasias - congenital | Mutation | Osteochondrodysplasias - metabolism | Osteochondrodysplasias - pathology | Hirschsprung Disease - genetics | Hair - metabolism | Fetal Growth Retardation - genetics | Dyskeratosis Congenita - genetics | Scoliosis - pathology | Muscular Atrophy, Spinal - genetics | Microcephaly - pathology | Ribonucleoproteins - genetics | Dyskeratosis Congenita - metabolism | Parkinson Disease - metabolism | Dwarfism - pathology | Walker-Warburg Syndrome - pathology | Mallory Bodies - genetics | Mallory Bodies - pathology | Microcephaly - metabolism | Scoliosis - metabolism | Parkinson Disease - genetics | Muscular Dystrophies - pathology | Dwarfism - genetics | Mallory Bodies - metabolism | Animals | Dyskeratosis Congenita - pathology | Immunologic Deficiency Syndromes - genetics | Immunologic Deficiency Syndromes - metabolism | Hirschsprung Disease - metabolism | RNA | Therapy | Spinal Muscular Atrophy | Stress granules | Dyskeratosis Congenita
Journal Article
Brain Pathology, ISSN 1015-6305, 11/2017, Volume 27, Issue 6, pp. 748 - 769
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 06/2014, Volume 1842, Issue 6, pp. 769 - 778
The skeleton affords a framework and structural support for vertebrates, while also facilitating movement, protecting vital organs, and providing a reservoir... 
Treacher Collins syndrome | Roberts syndrome | Skeletal development | Ribosome biogenesis | Shwachman–Diamond syndrome | Cartilage hair hypoplasia | Shwachman-Diamond syndrome | BLACKFAN ANEMIA | BIOCHEMISTRY & MOLECULAR BIOLOGY | CARTILAGE-HAIR HYPOPLASIA | TREACHER-COLLINS-SYNDROME | SHWACHMAN-DIAMOND-SYNDROME | SMALL-SUBUNIT PROCESSOME | CELL-CYCLE PROGRESSION | NUCLEOLAR PROTEIN TREACLE | BIOPHYSICS | TRANSCRIPTION FACTOR OSTERIX | EXTREME SHORT STATURE | L-LEUCINE IMPROVES | Exocrine Pancreatic Insufficiency - genetics | Immunologic Deficiency Syndromes - pathology | Osteochondrodysplasias - pathology | Hair - abnormalities | Humans | Mandibulofacial Dysostosis - pathology | Hirschsprung Disease - genetics | Ribosomes - metabolism | Bone Diseases, Developmental - genetics | Bone Diseases, Developmental - physiopathology | Mandibulofacial Dysostosis - genetics | Osteochondrodysplasias - genetics | Bone Diseases, Developmental - metabolism | Lipomatosis - pathology | Skeleton | Anemia, Diamond-Blackfan - pathology | Hair - pathology | Exocrine Pancreatic Insufficiency - pathology | RNA, Messenger - genetics | Hirschsprung Disease - pathology | Bone Marrow Diseases - pathology | Lipomatosis - genetics | Bone Marrow Diseases - genetics | Ribosomes - genetics | Anemia, Diamond-Blackfan - genetics | Osteochondrodysplasias - congenital | Immunologic Deficiency Syndromes - genetics | Bone Development - genetics | Proteins | Biosynthesis | Endothelin | Genetic disorders | Analysis
Journal Article
The Clinical Respiratory Journal, ISSN 1752-6981, 07/2017, Volume 11, Issue 4, pp. 440 - 447
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 10/2014, Volume 99, Issue 10, pp. E2117 - E2122
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 02/2016, Volume 291, Issue 9, pp. 4334 - 4341
The triggering receptor expressed on myeloid cells (TREM) 2 is a member of the immunoglobulin superfamily of receptors and mediates signaling in immune cells... 
NASU-HAKOLA-DISEASE | MICROGLIAL RESPONSE | TYPE-4 ALLELE | ALZHEIMERS-DISEASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | A-BETA | AMYOTROPHIC-LATERAL-SCLEROSIS | FRONTOTEMPORAL LOBAR DEGENERATION | GAMMA-SECRETASE | MISSENSE MUTATIONS | APOLIPOPROTEIN-E | Microglia - metabolism | Neurons - pathology | Osteochondrodysplasias - pathology | Membrane Glycoproteins - metabolism | Humans | Neurodegenerative Diseases - immunology | Lipodystrophy - immunology | Microglia - immunology | Osteochondrodysplasias - genetics | Myeloid Cells - immunology | Microglia - pathology | Membrane Proteins - metabolism | Neurons - metabolism | Subacute Sclerosing Panencephalitis - pathology | Osteochondrodysplasias - immunology | Neurodegenerative Diseases - pathology | Subacute Sclerosing Panencephalitis - immunology | Membrane Proteins - genetics | Neurons - immunology | Neurodegenerative Diseases - genetics | Lipodystrophy - metabolism | Neurodegenerative Diseases - metabolism | Nerve Tissue Proteins - genetics | Membrane Glycoproteins - genetics | Lipodystrophy - genetics | Nerve Tissue Proteins - metabolism | Animals | Triggering Receptor Expressed on Myeloid Cells-1 | Models, Biological | Adaptor Proteins, Signal Transducing - genetics | Lipodystrophy - pathology | Subacute Sclerosing Panencephalitis - genetics | Myeloid Cells - metabolism | Subacute Sclerosing Panencephalitis - metabolism | Mutation | Myeloid Cells - pathology | Adaptor Proteins, Signal Transducing - metabolism | Receptors, Immunologic - genetics | Receptors, Immunologic - metabolism | Osteochondrodysplasias - metabolism | neurodegenerative disease | Alzheimer disease | neuroinflammation | protein processing | cell signaling | Minireviews | microglia
Journal Article
Annual Review of Genomics and Human Genetics, ISSN 1527-8204, 8/2014, Volume 15, Issue 1, pp. 173 - 194
Cholesterol plays a key role in many cellular processes, and is generated by cells through de novo biosynthesis or acquired from exogenous sources through the... 
Tangier disease | cholesterol | Smith-Lemli-Opitz syndrome | Niemann-Pick disease type C | sphingolipids | CELLULAR CHOLESTEROL | LEMLI-OPITZ-SYNDROME | LOW-DENSITY-LIPOPROTEIN | LYSOSOMAL STORAGE | SUBSTRATE REDUCTION THERAPY | N-BUTYLDEOXYNOJIRIMYCIN | TANGIER-DISEASE | MOUSE MODEL | GENETICS & HEREDITY | ABCA1-DEPENDENT LIPID EFFLUX | CENTRAL-NERVOUS-SYSTEM | Abnormalities, Multiple - pathology | Limb Deformities, Congenital - genetics | Osteochondrodysplasias - pathology | Lipid Metabolism, Inborn Errors - genetics | Humans | Ichthyosiform Erythroderma, Congenital - pathology | Homeostasis | Steroid Metabolism, Inborn Errors - pathology | Lipoproteins, LDL - genetics | Cholesterol - genetics | Oxidoreductases Acting on CH-CH Group Donors - deficiency | Osteochondrodysplasias - genetics | Lipid Metabolism, Inborn Errors - pathology | Genetic Diseases, X-Linked - genetics | Oxidoreductases Acting on CH-CH Group Donors - genetics | Lipoproteins, LDL - metabolism | Abnormalities, Multiple - genetics | Steroid Metabolism, Inborn Errors - genetics | Antley-Bixler Syndrome Phenotype - genetics | Chondrodysplasia Punctata - genetics | Cholesterol - metabolism | Chondrodysplasia Punctata - pathology | Antley-Bixler Syndrome Phenotype - pathology | Genetic Diseases, X-Linked - pathology | Cholesterol - biosynthesis | Ichthyosiform Erythroderma, Congenital - genetics | Limb Deformities, Congenital - pathology | Genetic research | Metabolic diseases | Genetic aspects | Research | Gene expression | Cholesterol metabolism
Journal Article