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Scoliosis and Spinal Disorders, ISSN 2397-1789, 04/2016, Volume 11, Issue 1, p. 5
Adolescent idiopathic scoliosis (AIS) is a common disease. It is a multi-factorial (polygenic) disease controlled by genetic and environmental factors. Studies... 
GWAS | BNC2 | Adolescent idiopathic scoliosis | Japan | Genetics | GPR126 | LBX1 | Disease susceptibility | Genetic disorders | Scoliosis | Analysis | Genes | Genomics
Journal Article
Nature Genetics, ISSN 1061-4036, 03/2019, Volume 51, Issue 3, pp. 379 - 386
Journal Article
Clinical calcium, ISSN 0917-5857, 08/2015, Volume 25, Issue 8, pp. 1125 - 1131
Journal Article
Clinical calcium, ISSN 0917-5857, 08/2015, Volume 25, Issue 8, p. 1125
Susceptibility genes for various kinds of common diseases have been identified by the genome-wide association study (GWAS) and the outcome is changing the... 
Genome-Wide Association Study | Animals | Bone Diseases - genetics | Genomics | Humans | Joint Diseases - genetics | Muscle, Skeletal - metabolism | Muscle, Skeletal - microbiology
Journal Article
Nature, ISSN 0028-0836, 2014, Volume 513, Issue 7519, pp. 507 - 511
Gain-of-function mutations in the fibroblast growth factor receptor 3 gene (FGFR3) result in skeletal dysplasias, such as thanatophoric dysplasia and... 
APOPTOSIS | STEM-CELLS | ACTIVATION | THANATOPHORIC DYSPLASIA | CHONDROCYTES | MULTIDISCIPLINARY SCIENCES | GROWTH-FACTOR RECEPTOR-3 | MICE | MUTATIONS | HUMAN ACHONDROPLASIA | CARTILAGE | Hydroxymethylglutaryl-CoA Reductase Inhibitors - administration & dosage | Chondrocytes - cytology | Lovastatin - pharmacology | Cartilage - pathology | Achondroplasia - pathology | Male | Cartilage - drug effects | Fluorobenzenes - administration & dosage | Thanatophoric Dysplasia - pathology | Fluorobenzenes - pharmacology | Receptor, Fibroblast Growth Factor, Type 3 - deficiency | Cartilage - cytology | Female | Cell Differentiation | Induced Pluripotent Stem Cells - cytology | Achondroplasia - drug therapy | Thanatophoric Dysplasia - genetics | Achondroplasia - genetics | Disease Models, Animal | Induced Pluripotent Stem Cells - pathology | Lovastatin - therapeutic use | Chondrocytes - pathology | Receptor, Fibroblast Growth Factor, Type 3 - genetics | Bone Development - drug effects | Pyrimidines - administration & dosage | Mice, Inbred C57BL | Rosuvastatin Calcium | Pyrimidines - pharmacology | Sulfonamides - pharmacology | Phenotype | Animals | Hydroxymethylglutaryl-CoA Reductase Inhibitors - pharmacology | Sulfonamides - therapeutic use | Pyrimidines - therapeutic use | Hydroxymethylglutaryl-CoA Reductase Inhibitors - therapeutic use | Thanatophoric Dysplasia - drug therapy | Mice | Fluorobenzenes - therapeutic use | Sulfonamides - administration & dosage | Achondroplasia | Radiography | Care and treatment | Usage | Analysis | Diagnosis | Protein kinases | Genotype & phenotype | Transcription factors | Disease | Mutation | Kinases | Patients | Statins
Journal Article
Nature Genetics, ISSN 1061-4036, 03/2018, Volume 50, Issue 3, pp. 390 - 400
Clinical measurements can be viewed as useful intermediate phenotypes to promote understanding of complex human diseases. To acquire comprehensive insights... 
AUTOIMMUNE | RARE VARIANTS | GENETICS & HEREDITY | SUSCEPTIBILITY LOCI | BODY-MASS INDEX | COMMON | RISK | MENDELIAN RANDOMIZATION | LD SCORE REGRESSION | BLOOD-PRESSURE | GENOME-WIDE ASSOCIATION | Phenotypes | Pathogenesis | Genomes | Biology | Metabolism | Diseases | Studies | Consortia | Genotype & phenotype | Pleiotropy | Etiology | Genetic analysis | Genetics | Blood pressure | Bioinformatics | Polygenic inheritance
Journal Article
Journal of Bone and Mineral Metabolism, ISSN 0914-8779, 3/2013, Volume 31, Issue 2, pp. 136 - 143
Journal Article
Nature Genetics, ISSN 1061-4036, 10/2017, Volume 49, Issue 10, pp. 1458 - 1467
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 06/2018, Volume 63, Issue 6, pp. 769 - 774
Dysosteosclerosis (DOS) is a form of sclerosing bone disease characterized by irregular osteosclerosis and platyspondyly. Its mode of inheritance is autosomal... 
RNA Splice Sites | Exons | Introns | Humans | Genetic Heterogeneity | Whole Exome Sequencing | Turkey | Adolescent | Alleles | Polymerase Chain Reaction | Receptor Activator of Nuclear Factor-kappa B - genetics | Female | Mutation | Osteosclerosis - genetics
Journal Article