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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 Cellular and Molecular Medicine, ISSN 1582-1838, 06/2015, Volume 19, Issue 6, pp. 1197 - 1207
Hirschsprung's disease (HSCR) is a rare congenital disease caused by impaired proliferation and migration of neural crest cells. We investigated changes in... 
intestine | neural development | gene regulation | genetic disorder | Genetic disorder | Intestine | Gene regulation | Neural development | MIGRATION | MEDICINE, RESEARCH & EXPERIMENTAL | MOUSE | RECEPTOR | MICRORNAS | CELL BIOLOGY | HOST GENES | INHIBITION | GROWTH | NEURAL CREST | TYROSINE KINASE RET | EXPRESSION | Proto-Oncogene Proteins c-ret - metabolism | Humans | Hirschsprung Disease - genetics | Infant | Male | Cell Movement - genetics | DNA-Binding Proteins - metabolism | Intercellular Signaling Peptides and Proteins - metabolism | Female | Cell Proliferation - genetics | Gene Expression | Colon - pathology | Mice, Inbred C57BL | Intercellular Signaling Peptides and Proteins - genetics | Mice, Transgenic | Signal Transduction - genetics | DNA-Binding Proteins - genetics | Reverse Transcriptase Polymerase Chain Reaction | Nerve Tissue Proteins - genetics | Blotting, Western | Colon - metabolism | Nerve Tissue Proteins - metabolism | Animals | Cell Line, Tumor | Protein Binding | MicroRNAs - genetics | Receptors, Immunologic - genetics | Hirschsprung Disease - metabolism | Receptors, Immunologic - metabolism | Proto-Oncogene Proteins c-ret - genetics | Proteins | Development and progression | Genetic engineering | Genetic disorders | RNA | Analysis | Medical research | Congenital diseases | Transgenic animals | Pathogenesis | Rodents | MicroRNAs | Index Medicus | Original
Journal Article
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 12/2015, Volume 125, Issue 12, pp. 4483 - 4496
Journal Article
Journal Article
Gastroenterology, ISSN 0016-5085, 2015, Volume 149, Issue 7, pp. 1837 - 1848.e5
Background & Aims Hirschsprung disease is characterized by a deficit in enteric neurons, which are derived from neural crest cells (NCCs). Aberrant hedgehog... 
Gastroenterology and Hepatology | Nervous System Development | HSCR | Aganglionic Megacolon | Mouse Model | SOX10 EXPRESSION | CELLS | SONIC HEDGEHOG | PROLIFERATION | PALLISTER-HALL SYNDROME | NEURAL CREST DEVELOPMENT | MAINTENANCE | GENE | DIFFERENTIATION | GASTROENTEROLOGY & HEPATOLOGY | Wnt1 Protein - genetics | Humans | Neural Crest - pathology | Zinc Finger Protein Gli2 | Hirschsprung Disease - genetics | Zinc Finger Protein Gli3 | Male | Wnt1 Protein - metabolism | Mice, 129 Strain | DNA Mutational Analysis - methods | Enteric Nervous System - abnormalities | Neurogenesis | Case-Control Studies | Neural Crest - metabolism | Transfection | Gene Expression Regulation, Developmental | Kruppel-Like Transcription Factors - metabolism | Female | Nuclear Proteins - genetics | Repressor Proteins - metabolism | Disease Models, Animal | Genetic Predisposition to Disease | SOXE Transcription Factors - metabolism | Enteric Nervous System - metabolism | Mice, Inbred C57BL | Hirschsprung Disease - pathology | Repressor Proteins - genetics | Mice, Transgenic | Nuclear Proteins - metabolism | Transcription Factors - genetics | Nerve Tissue Proteins - genetics | Mice, Inbred ICR | Nerve Tissue Proteins - metabolism | Transcription Factors - metabolism | Cell Lineage | Hirschsprung Disease - diagnosis | Phenotype | Animals | High-Throughput Nucleotide Sequencing | Zinc Finger Protein GLI1 | HeLa Cells | Mutation | Hirschsprung Disease - metabolism | Kruppel-Like Transcription Factors - genetics | Cell Movement | SOXE Transcription Factors - genetics | Hirschsprung's disease | Genetic research | Genetic aspects | Analysis | Children's hospitals | Stem cells
Journal Article
Journal Article
Trends in Neurosciences, ISSN 0166-2236, 2010, Volume 33, Issue 10, pp. 446 - 456
Journal Article