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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
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
Endocrine Reviews, ISSN 0163-769X, 05/2006, Volume 27, Issue 3, pp. 221 - 241
Journal Article
Human Mutation, ISSN 1059-7794, 01/2012, Volume 33, Issue 1, pp. 29 - 41
In 1994, the field of bone biology was significantly advanced by the discovery that activating mutations in the fibroblast growth factor receptor 3 (FGFR3)... 
MAP kinase | chondrocyte | FGF | FGFR3 | skeletal dysplasia | Skeletal dysplasia | Chondrocyte | TYROSINE KINASE DOMAIN | BONE-GROWTH | PHOSPHATIDYLINOSITOL 3-KINASE | ERK MAP KINASE | MULTIPLE-MYELOMA CELLS | THANATOPHORIC DYSPLASIA | HORMONE-RELATED PROTEIN | GENETICS & HEREDITY | CHONDROCYTE PROLIFERATION | C-NATRIURETIC PEPTIDE | ACTIVATING MUTATIONS | Osteochondrodysplasias - pathology | Cell Proliferation | Skin - metabolism | Humans | Fibroblast Growth Factors - genetics | Phosphatidylinositol 3-Kinases - metabolism | Receptor, Fibroblast Growth Factor, Type 3 - metabolism | Genes, Lethal | Fibroblast Growth Factors - metabolism | STAT1 Transcription Factor - metabolism | MAP Kinase Signaling System - genetics | Osteochondrodysplasias - genetics | Bone and Bones - metabolism | Chondrocytes - metabolism | Skin - pathology | Skin Neoplasms - pathology | Chondrocytes - pathology | Receptor, Fibroblast Growth Factor, Type 3 - genetics | Signal Transduction | Gene Expression Regulation | Cell Communication | Cartilage - metabolism | STAT1 Transcription Factor - genetics | Skin Neoplasms - metabolism | Phosphatidylinositol 3-Kinases - genetics | Cartilage - abnormalities | Natriuretic Peptide, C-Type - metabolism | Skin Neoplasms - genetics | Natriuretic Peptide, C-Type - genetics | Mutation | Bone and Bones - abnormalities | Osteochondrodysplasias - metabolism
Journal Article
Journal Article
BBA - Biomembranes, ISSN 0005-2736, 12/2017, Volume 1859, Issue 12, pp. 2420 - 2434
The availability of the first crystal structure of a bacterial member (SLC26Dg) of the solute carrier SLC26 family of anion transporters has allowed us to... 
Pathogenic mutations | Anion transporters | Trafficking | Homology modeling | SLC26 | Solute carriers | Transport | Membrane proteins | NONSYNDROMIC HEARING-LOSS | SULFATE-TRANSPORTER | PROCESSING DEFECT | BIOCHEMISTRY & MOLECULAR BIOLOGY | FUNCTIONAL-CHARACTERIZATION | N-GLYCOSYLATION | BIOPHYSICS | GENE | MOTOR PROTEIN | HUMAN PENDRIN | CYSTIC-FIBROSIS | STAS DOMAIN | Goiter, Nodular - genetics | Chloride-Bicarbonate Antiporters - genetics | Osteochondrodysplasias - pathology | Humans | Bacterial Proteins - chemistry | Substrate Specificity | Anion Transport Proteins - chemistry | Deinococcus - metabolism | Diarrhea - pathology | Deinococcus - genetics | Goiter, Nodular - metabolism | Osteochondrodysplasias - genetics | Membrane Transport Proteins - genetics | Goiter, Nodular - pathology | Membrane Transport Proteins - metabolism | Ion Transport | Protein Interaction Domains and Motifs | Binding Sites | Amino Acid Sequence | Protein Conformation, alpha-Helical | Chloride-Bicarbonate Antiporters - chemistry | Gene Expression | Hearing Loss, Sensorineural - metabolism | Diarrhea - congenital | Bacterial Proteins - genetics | Computational Biology | Metabolism, Inborn Errors - metabolism | Hearing Loss, Sensorineural - pathology | Models, Molecular | Hearing Loss, Sensorineural - genetics | Anion Transport Proteins - metabolism | Metabolism, Inborn Errors - genetics | Membrane Transport Proteins - chemistry | Chloride-Bicarbonate Antiporters - metabolism | Protein Conformation, beta-Strand | Diarrhea - genetics | Protein Binding | Bacterial Proteins - metabolism | Diarrhea - metabolism | Structural Homology, Protein | Mutation | Metabolism, Inborn Errors - pathology | Anion Transport Proteins - genetics | Osteochondrodysplasias - metabolism | Deafness | Disease transmission | Gene mutations | Analysis | Crystals | Genetic aspects | Glycoproteins | Structure | Protein binding | Sulfates
Journal Article
Cell, ISSN 0092-8674, 10/2006, Volume 127, Issue 2, pp. 291 - 304
Journal Article