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AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY, ISSN 0002-9483, 04/2019, Volume 168, Issue 4, pp. 810 - 811
Journal Article
PLoS Genetics, ISSN 1553-7390, 04/2017, Volume 13, Issue 4, p. e1006742
Hereditary Multiple Exostoses (HME) is a rare pediatric disorder caused by loss-of-function mutations in the genes encoding the heparan sulfate... 
ENDOCHONDRAL OSSIFICATION | CRE ACTIVITY | MOUSE MODEL | GENETICS & HEREDITY | GROWTH-PLATE | HEPARAN-SULFATE PROTEOGLYCANS | SKELETAL DEVELOPMENT | CHONDROGENESIS | EXT2 GENES | LONG BONES | CARTILAGE | Growth Plate - pathology | Heparitin Sulfate - biosynthesis | Exostoses, Multiple Hereditary - diagnostic imaging | Chondrogenesis - genetics | Humans | N-Acetylglucosaminyltransferases - genetics | Bone Morphogenetic Proteins - metabolism | Osteochondroma - pathology | Smad1 Protein - genetics | Exostoses, Multiple Hereditary - genetics | Osteochondroma - diagnostic imaging | Bone Morphogenetic Proteins - genetics | Disease Models, Animal | Pyrimidines - administration & dosage | Cervical Cord - pathology | Embryonic Development - genetics | Osteochondroma - genetics | Growth Plate - metabolism | Exostoses, Multiple Hereditary - pathology | Mice, Knockout | Exostoses, Multiple Hereditary - drug therapy | Magnetic Resonance Imaging | Pyrazoles - administration & dosage | Animals | Cervical Cord - metabolism | Mice | Tomography, Emission-Computed | Mutation | Antagonists (Biochemistry) | CT imaging | Usage | Care and treatment | Hereditary multiple exostoses | Analysis | Osteochondroma | Genetic aspects | Research | Pediatrics | Electronic mail systems | Spine | Colleges & universities | Embryo cells | AKT protein | Biochemistry | Cartilage | Computed tomography | Surgery | Biocompatibility | Skin diseases | Inhibition | Evaluation | Enzymes | Data acquisition | Abnormalities | Benign | Gene expression | Patients | Hereditary diseases | Osteoblastogenesis | Stem cells | Plates (structural members) | Animal models | Apert's syndrome | Medical services | Arthritis | Chin | Bone tumors | Bone diseases | Kinases | Defects | Biomedical materials | Pain | Rodents | Bone morphogenetic proteins | Bones | Division | Skeleton | Children | Lesions | Heart diseases | Heparan sulfate | Medicine | Effectors | Skull | Aggrecan | Differentiation | Cancer
Journal Article
Nature, ISSN 0028-0836, 2013, Volume 499, Issue 7459, pp. 491 - 495
The tyrosine phosphatase SHP2, encoded by PTPN11, is required for the survival, proliferation and differentiation of various cell types(1,2). Germline... 
ENCHONDROMATOSIS | RANVIER | OSTEOCLASTS | MULTIDISCIPLINARY SCIENCES | OSSIFICATION GROOVE | PERICHONDRIAL RING | CELL PROLIFERATION | RECEPTOR | OSTEOGENESIS | CHONDROGENESIS | CARTILAGE | Protein Tyrosine Phosphatase, Non-Receptor Type 11 - metabolism | Cartilage - pathology | Hedgehog Proteins - metabolism | Monocytes - metabolism | Bone Neoplasms - pathology | Bone Neoplasms - metabolism | MAP Kinase Signaling System | Fibroblast Growth Factors - metabolism | Mitogen-Activated Protein Kinase Kinases - metabolism | Mesenchymal Stromal Cells - cytology | Cell Division | Gene Deletion | Genes, Tumor Suppressor - physiology | Protein Tyrosine Phosphatase, Non-Receptor Type 11 - deficiency | Exostoses, Multiple Hereditary - genetics | Bone Neoplasms - genetics | Bone Neoplasms - drug therapy | Osteopetrosis - genetics | Osteopetrosis - pathology | Mitogen-Activated Protein Kinase Kinases - antagonists & inhibitors | Exostoses, Multiple Hereditary - metabolism | Mesenchymal Stromal Cells - metabolism | Mice, Transgenic | Osteopetrosis - metabolism | Chondromatosis - metabolism | Hedgehog Proteins - antagonists & inhibitors | Cartilage - metabolism | Osteoclasts - metabolism | Parathyroid Hormone-Related Protein - metabolism | Exostoses, Multiple Hereditary - pathology | Mice, Knockout | Exostoses, Multiple Hereditary - drug therapy | Gene Expression Regulation - drug effects | Cell Lineage | Cathepsin K - genetics | Macrophages - metabolism | Animals | Chondromatosis - drug therapy | Cathepsin K - metabolism | Chondromatosis - genetics | Signal Transduction - drug effects | Chondromatosis - pathology | Mice | Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics | Cathepsin K - deficiency | Tyrosine | Phosphatases | Physiological aspects | Cellular signal transduction | Research | Bone diseases | Health aspects | Hedgehog proteins | Flow cytometry | Pathogenesis | Rodents | Bone density | Mutation | Kinases | Gene expression
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