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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
Cell, ISSN 0092-8674, 1999, Volume 99, Issue 1, pp. 81 - 92
MT1-MMP is a membrane-bound matrix metalloproteinase (MT-MMP) capable of mediating pericellular proteolysis of extracellular matrix components. MT1M MP is... 
RHEUMATOID-ARTHRITIS | OSTEOBLAST DIFFERENTIATION | MOUSE EMBRYOGENESIS | INTERSTITIAL COLLAGENASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | TYPE-1 MATRIX METALLOPROTEINASE | IN-VIVO | PRO-GELATINASE-A | EXTRACELLULAR-MATRIX | HYPERTROPHIC CHONDROCYTES | BONE-RESORPTION | CELL BIOLOGY | Body Constitution | Growth Plate - pathology | Bone Diseases, Metabolic - mortality | Matrix Metalloproteinases - genetics | Skin - cytology | Cartilage - pathology | Stromal Cells - pathology | Synovial Membrane - pathology | Bone Diseases, Metabolic - pathology | Connective Tissue Diseases - mortality | Metalloendopeptidases | Arthritis - genetics | Matrix Metalloproteinases, Membrane-Associated | Skull - pathology | Dwarfism - pathology | Disease Models, Animal | Matrix Metalloproteinase 14 | Cachexia - genetics | Osteoblasts - enzymology | Arthritis - pathology | Bone Development | Skin - enzymology | Dwarfism - mortality | Mice, Knockout | Collagen - metabolism | Dwarfism - genetics | Osteoblasts - pathology | Hyalin | Animals | Connective Tissue Diseases - pathology | Bone Resorption - pathology | Fibrosis | Arthritis - mortality | Connective Tissue Diseases - genetics | Mice | Bone Diseases, Metabolic - genetics | Matrix Metalloproteinases - metabolism | Dwarfism | Usage | Mice, mutant strains | Collagen | Physiological aspects | Arthritis | Research | Connective tissue cells | Cytochemistry
Journal Article
Human mutation, ISSN 1059-7794, 2014, Volume 35, Issue 5, pp. 521 - 531
Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental... 
aplasia of alae nasi | ohanson | cognitive impairment | UBR | exocrine pancreatic insufficiency | lizzard syndrome | UBR1 | Exocrine pancreatic insufficiency | Aplasia of alae nasi | Johanson-Blizzard syndrome | Cognitive impairment | PRENATAL ULTRASONOGRAPHIC DIAGNOSIS | COMPLEX | JOHANSON-BLIZZARD-SYNDROME | UBIQUITIN LIGASE | INVOLVEMENT | AUTOPSY FINDINGS | DIABETES-MELLITUS | MALFORMATIONS | SEQUENCE | GENETICS & HEREDITY | END RULE PATHWAY | Abnormalities, Multiple - pathology | Hypothyroidism - pathology | Nose - abnormalities | Growth Disorders - pathology | Humans | Databases, Genetic | Anus, Imperforate - pathology | Intellectual Disability - genetics | Pancreatic Diseases - pathology | Ectodermal Dysplasia - pathology | Dwarfism - pathology | Hypothyroidism - genetics | Abnormalities, Multiple - genetics | Nose - pathology | Intellectual Disability - pathology | Hearing Loss, Sensorineural - pathology | Hearing Loss, Sensorineural - genetics | Mutation - genetics | Pancreatic Diseases - genetics | Dwarfism - genetics | Phenotype | Anus, Imperforate - genetics | Ectodermal Dysplasia - genetics | Growth Disorders - genetics | Ubiquitin-Protein Ligases - genetics | Ubiquitin | Genetic aspects | Thyroid hormones | Hypothyroidism | Ligases | Genotype & phenotype | Genetic disorders | Mutation | Medical and Health Sciences | Medicin och hälsovetenskap
Journal Article
Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 09/2016, Volume 29, Issue 9, pp. 1111 - 1114
Journal Article
PLoS Genetics, ISSN 1553-7390, 11/2012, Volume 8, Issue 11, p. e1002945
A homozygous mutational change in the Ataxia-Telangiectasia and RAD3 related (ATR) gene was previously reported in two related families displaying Seckel... 
H2AX | PRIMORDIAL DWARFISM | PHOSPHORYLATION | DNA-DAMAGE RESPONSE | ORIGIN RECOGNITION COMPLEX | II MOPD-II | GENETICS & HEREDITY | STRESS | MEIER-GORLIN SYNDROME | LOCUS | SSDNA | Osteochondrodysplasias - pathology | Microcephaly - genetics | Growth Disorders - pathology | Humans | Fetal Growth Retardation - genetics | Male | Micrognathism - pathology | DNA-Binding Proteins - deficiency | DNA-Binding Proteins - metabolism | RNA Splicing | Osteochondrodysplasias - genetics | Microcephaly - pathology | Patella - abnormalities | Cell Cycle Proteins - genetics | Female | Dwarfism - pathology | Protein-Serine-Threonine Kinases - metabolism | Congenital Microtia | Ear - abnormalities | Micrognathism - genetics | Cell Cycle Proteins - metabolism | Gene Expression Regulation | Protein-Serine-Threonine Kinases - genetics | Signal Transduction - genetics | Ataxia Telangiectasia Mutated Proteins | Codon, Nonsense | DNA-Binding Proteins - genetics | Fetal Growth Retardation - pathology | Patella - pathology | Dwarfism - genetics | Adaptor Proteins, Signal Transducing - deficiency | Adaptor Proteins, Signal Transducing - genetics | Heterozygote | Ear - pathology | Adaptor Proteins, Signal Transducing - metabolism | Growth Disorders - genetics | Gene mutations | Seckel syndrome | Physiological aspects | Development and progression | Ataxia telangiectasia | Genetic aspects | Research | Science | Medical research | Mutation | Genes
Journal Article
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 06/2015, Volume 30, Issue 6, pp. 1077 - 1089
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2009, Volume 41, Issue 8, pp. 891 - 898
Although DNA damage is considered a driving force for aging, the nature of the damage that arises endogenously remains unclear. Replicative stress, a source of... 
CHROMOSOME INSTABILITY | GENE ATR | DNA-DAMAGE RESPONSE | HEMATOPOIETIC STEM-CELLS | GENETICS & HEREDITY | LEADS | CHECKPOINT | DEFICIENT MICE | ATAXIA-TELANGIECTASIA | AGE | P53 | Abnormalities, Multiple - pathology | Embryo, Mammalian - drug effects | Protein-Serine-Threonine Kinases - deficiency | Fibroblasts - enzymology | Apoptosis - drug effects | DNA Replication - drug effects | Humans | Aging - drug effects | Brain - enzymology | Embryo, Mammalian - metabolism | DNA-Binding Proteins - metabolism | Aging - genetics | Progeria - embryology | DNA-Activated Protein Kinase - metabolism | Progeria - pathology | Embryo, Mammalian - enzymology | Stress, Physiological - drug effects | Abnormalities, Multiple - genetics | Protein-Serine-Threonine Kinases - metabolism | Disease Models, Animal | DNA Repair - drug effects | Embryo, Mammalian - pathology | Progeria - enzymology | Cell Cycle Proteins - metabolism | Tumor Suppressor Protein p53 - metabolism | Nuclear Proteins - metabolism | Ataxia Telangiectasia Mutated Proteins | Fibroblasts - pathology | Tumor Suppressor Protein p53 - deficiency | Syndrome | Aging - pathology | Phenotype | Animals | Fibroblasts - drug effects | Alleles | Abnormalities, Multiple - enzymology | Brain - pathology | Mice | Protein Kinase Inhibitors - pharmacology | DNA Damage | Embryonic development | Usage | Control | Animal models in research | DNA damage | Causes of | Physiological aspects | Genetic aspects | Research | Proteins | Dwarfism | Studies | Genotype & phenotype | Cell cycle | Kinases | Molecular biology | Cancer
Journal Article
Nature Communications, ISSN 2041-1723, 2016, Volume 7, Issue 1, p. 11491
Journal Article