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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
Nature, ISSN 0028-0836, 03/2016, Volume 531, Issue 7592, pp. 105 - 109
Journal Article
Developmental Biology, ISSN 0012-1606, 09/2016, Volume 417, Issue 2, pp. 229 - 251
Journal Article
The American Journal of Surgical Pathology, ISSN 0147-5185, 12/2016, Volume 40, Issue 12, pp. 1637 - 1646
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
Neurogastroenterology & Motility, ISSN 1350-1925, 11/2011, Volume 23, Issue 11, pp. 980 - 988
Journal Article