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1. Full Text Taxonomy of rare genetic metabolic bone disorders
by Masi, L and Agnusdei, D and Bilezikian, J and Chappard, D and Chapurlat, R and Cianferotti, L and Devolgelaer, J.-P and El Maghraoui, A and Ferrari, S and Javaid, M K and Kaufman, J.-M and Liberman, U A and Lyritis, G and Miller, P and Napoli, N and Roldan, E and Papapoulos, S and Watts, N B and Brandi, M L
Osteoporosis international, ISSN 0937-941X, 10/2015, Volume 26, Issue 10, pp. 2529 - 2558
Metabolic bone diseases | Medicine & Public Health | Rare bone diseases | Taxonomy | Orthopedics | Rheumatology | Bone metabolism | Endocrinology | Genetic bone diseases | Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Rare Diseases - genetics | Humans | Osteoblasts - physiology | Bone Diseases, Metabolic - diagnosis | Rare Diseases - diagnosis | Proteoglycans - metabolism | Bone Diseases, Developmental - genetics | Osteocytes - physiology | Bone Diseases, Metabolic - metabolism | Bone Diseases, Metabolic - classification | Phenotype | Bone Diseases, Developmental - metabolism | Rare Diseases - classification | Bone Diseases, Developmental - classification | Bone Diseases, Metabolic - genetics | Osteoclasts - physiology | Bone Diseases, Developmental - diagnosis | Rare Diseases - metabolism | Genetic research | Genetic aspects | Bone diseases | Drug therapy | Metabolism | Genetic disorders | Index Medicus
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2. The genetics of osteoporosis and metabolic bone disease
by Econs, Michael J
2000, ISBN 0896037029, xi, 462
Osteoporosis | Bones | Disease susceptibility | Genetic aspects | Metabolism | Disorders
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3. Full Text Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta
by Barnes, Aileen M and Makareeva, Elena and Smith, Peter A and Eyre, David R and Kuznetsova, Natalia V and Cabral, Wayne A and Bulas, Dorothy I and Scott, Melissa A and Leikin, Sergey and Kozma, Chahira and Chang, Weizhong and Weis, MaryAnn and Rosenbaum, Kenneth N and Marini, Joan C and Tifft, Cynthia J
Nature genetics, ISSN 1061-4036, 03/2007, Volume 39, Issue 3, pp. 359 - 365
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Humans | Collagen Type I - secretion | Osteogenesis Imperfecta - genetics | Bone Diseases, Metabolic - pathology | Male | Osteogenesis Imperfecta - diagnostic imaging | Genes, Recessive | Membrane Glycoproteins - genetics | Radiography | Proteoglycans - deficiency | Phenotype | Procollagen-Proline Dioxygenase - deficiency | Procollagen-Proline Dioxygenase - genetics | Time Factors | Ultrasonography, Prenatal | Mass Spectrometry | Female | Osteogenesis Imperfecta - pathology | Bone Diseases, Metabolic - genetics | Mutation | Membrane Glycoproteins - deficiency | Proteoglycans - genetics | Physiological aspects | Osteogenesis imperfecta | Hydroxylases | Bone diseases | Diagnosis | Risk factors | African Americans | Genotype & phenotype | Genetic disorders | Metabolism | Index Medicus
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4. Full Text Catalase polymorphisms and metabolic diseases
by Hebert-Schuster, Marylise and Fabre, Emmanuelle E and Nivet-Antoine, Valérie
Current opinion in clinical nutrition and metabolic care, ISSN 1363-1950, 07/2012, Volume 15, Issue 4, pp. 397 - 402
metabolic disease | insulin resistance | polymorphisms | catalase | Endocrinology & Metabolism | Life Sciences & Biomedicine | Nutrition & Dietetics | Science & Technology | Dyslipidemias - genetics | Genetic Predisposition to Disease | Glucose Intolerance - genetics | Catalase - genetics | Diabetes Mellitus - genetics | Humans | Metabolic Diseases - blood | Bone and Bones - metabolism | Insulin Resistance - genetics | Metabolic Diseases - genetics | Blood Glucose - genetics | Polymorphism, Single Nucleotide | Hypertension - genetics | Blood Glucose - metabolism | Index Medicus
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5. Full Text ATM-dependent suppression of stress signaling reduces vascular disease in metabolic syndrome
by Schneider, Jochen G and Finck, Brian N and Ren, Jie and Standley, Kara N and Takagi, Masatoshi and Maclean, Kirsteen H and Bernal-Mizrachi, Carlos and Muslin, Anthony J and Kastan, Michael B and Semenkovich, Clay F
Cell metabolism, ISSN 1550-4131, 2006, Volume 4, Issue 5, pp. 377 - 389
HUMDISEASE | Endocrinology & Metabolism | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Protein-Serine-Threonine Kinases - deficiency | Atherosclerosis - drug therapy | Signal Transduction | Phosphoprotein Phosphatases - metabolism | Protein-Serine-Threonine Kinases - genetics | Chloroquine - therapeutic use | Metabolic Diseases - drug therapy | Ataxia Telangiectasia Mutated Proteins | DNA-Binding Proteins - genetics | DNA-Binding Proteins - deficiency | Mice, Knockout | Animals | Metabolic Diseases - metabolism | Tumor Suppressor Proteins - deficiency | Apolipoproteins E - genetics | Stress, Physiological - metabolism | Tumor Suppressor Proteins - genetics | Cell Cycle Proteins - genetics | Metabolic Diseases - genetics | Macrophages - drug effects | Mice | Mutation | Transplantation | Lipoprotein lipase | Automated teller machines | Glucose | Blood lipoproteins | Apolipoproteins | Macrophages | Dextrose | Proteolipids | Lipoproteins | Atherosclerosis | Bone marrow | Stress management | Insulin resistance | Anti-infective agents | Cardiovascular diseases | Index Medicus
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6. Genetics, Genomics, and Precision Medicine in End-Stage Kidney Disease
by Kopp, Jeffrey B and Winkler, Cheryl A
Seminars in nephrology, ISSN 0270-9295, 07/2018, Volume 38, Issue 4, pp. 317 - 324
apoliprotein L1 | cardiovascular disease | dialysis survival | APOL1 | diabetic nephropathy | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Genomics | Glomerulosclerosis, Focal Segmental - genetics | Humans | Myosin Heavy Chains - genetics | Arteriosclerosis - genetics | Cardiovascular Diseases - genetics | Molecular Motor Proteins - genetics | Genetic Variation | Anemia - genetics | Cardiovascular Diseases - complications | Receptor, Angiotensin, Type 1 - genetics | Bone Diseases, Metabolic - complications | Nephrosclerosis - genetics | Sickle Cell Trait - genetics | Precision Medicine | Genetic Predisposition to Disease | Dipeptidases - genetics | Oxidative Stress - genetics | Apolipoprotein L1 - genetics | Diabetic Nephropathies - genetics | Genotype | Nerve Tissue Proteins - genetics | Kidney Failure, Chronic - genetics | Anemia - complications | Infection - genetics | Kidney Failure, Chronic - complications | Lim Kinases - genetics | Polymorphism, Single Nucleotide | Bone Diseases, Metabolic - genetics | Complement Factor H - genetics | Infection - complications | Chimerin Proteins - genetics
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7. Full Text Activation of hedgehog signaling by loss of GNAS causes heterotopic ossification
by Regard, Jean B and Malhotra, Deepti and Gvozdenovic-Jeremic, Jelena and Josey, Michelle and Chen, Min and Weinstein, Lee S and Lu, Jianming and Shore, Eileen M and Kaplan, Frederick S and Yang, Yingzi
Nature medicine, ISSN 1078-8956, 11/2013, Volume 19, Issue 11, pp. 1505 - 1512
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Cell Biology | Research & Experimental Medicine | Humans | Hedgehog Proteins - metabolism | Bone Diseases, Metabolic - pathology | Male | Skin Diseases, Genetic - genetics | GTP-Binding Protein alpha Subunits, Gs - genetics | Chromogranins | Hedgehog Proteins - genetics | Ossification, Heterotopic - metabolism | Female | Cell Differentiation | GTP-Binding Protein alpha Subunits, Gs - deficiency | Wnt Signaling Pathway | Ossification, Heterotopic - pathology | Signal Transduction | Skin Diseases, Genetic - pathology | Hedgehog Proteins - antagonists & inhibitors | Skin Diseases, Genetic - metabolism | beta Catenin - metabolism | Mice, Knockout | Bone Diseases, Metabolic - metabolism | Osteoblasts - pathology | Animals | Mice | Bone Diseases, Metabolic - genetics | Mutation | Ossification, Heterotopic - genetics | Osteoblasts - metabolism | Physiological aspects | Bone cells | Cellular signal transduction | Research | Properties | Cell differentiation | Hedgehog proteins | Ossification | Signal transduction | Bones | Genetics | Skeletal system | Stem cells | Index Medicus
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8. Full Text Smooth Muscle Contact Drives Endothelial Regeneration by BMPR2-Notch1–Mediated Metabolic and Epigenetic Changes
by Miyagawa, Kazuya and Shi, Minyi and Chen, Pin-I and Hennigs, Jan K and Zhao, Zhixin and Wang, Mouer and Li, Caiyun G and Saito, Toshie and Taylor, Shalina and Sa, Silin and Cao, Aiqin and Wang, Lingli and Snyder, Michael P and Rabinovitch, Marlene
Circulation research, ISSN 0009-7330, 01/2019, Volume 124, Issue 2, pp. 211 - 224
endothelial cells | cell communication | regeneration | pulmonary hypertension | epigenomics | metabolism | vascular remodeling | Cardiac & Cardiovascular Systems | Peripheral Vascular Disease | Life Sciences & Biomedicine | Hematology | Cardiovascular System & Cardiology | Science & Technology | Vascular Remodeling | Cell Proliferation | Muscle, Smooth, Vascular - metabolism | Coculture Techniques | Epigenesis, Genetic | Humans | Middle Aged | Myocytes, Smooth Muscle - pathology | Male | Young Adult | Receptor, Notch1 - deficiency | Adult | Female | Carotid Artery Injuries - genetics | Myocytes, Smooth Muscle - metabolism | Carotid Artery Injuries - metabolism | Carotid Artery Injuries - pathology | Disease Models, Animal | Bone Morphogenetic Protein Receptors, Type II - genetics | Signal Transduction | Endothelial Cells - metabolism | Bone Morphogenetic Protein Receptors, Type II - deficiency | Cells, Cultured | Cell Communication | Chromatin Assembly and Disassembly | Hypertension, Pulmonary - genetics | Hypertension, Pulmonary - metabolism | Receptor, Notch1 - metabolism | Bone Morphogenetic Protein Receptors, Type II - metabolism | Mice, Knockout | Muscle, Smooth, Vascular - pathology | Animals | Energy Metabolism | Endothelial Cells - pathology | Receptor, Notch1 - genetics | Hypertension, Pulmonary - pathology | Smooth muscle | Genetic aspects | Research | Pulmonary hypertension | Atherosclerosis | Endothelium | Index Medicus | Endothelial regeneration | smooth muscle cell | BMPR2 | endothelial cell | Vascular Biology | arterial injury | epigenetic modification | Metabolism | gene regulation | Vascular Disease | Epigenetics | cell metabolism | Basic Science Research
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9. Full Text Genetic Variants of FTO Influence Adiposity, Insulin Sensitivity, Leptin Levels, and Resting Metabolic Rate in the Quebec Family Study
by Ron Do and Swneke D. Bailey and Katia Desbiens and Alexandre Belisle and Alexandre Montpetit and Claude Bouchard and Louis Pérusse and Marie-Claude Vohl and James C. Engert
Diabetes (New York, N.Y.), ISSN 0012-1797, 04/2008, Volume 57, Issue 4, pp. 1147 - 1150
Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Biological and medical sciences | Endocrinopathies | Etiopathogenesis. Screening. Investigations. Target tissue resistance | Diabetes. Impaired glucose tolerance | Medical sciences | Endocrine pancreas. Apud cells (diseases) | Body Mass Index | Bone Density | Diabetes Mellitus, Type 2 - genetics | Humans | Middle Aged | Quebec | Alpha-Ketoglutarate-Dependent Dioxygenase FTO | Male | Obesity - genetics | Genetic Variation | Proteins - genetics | Leptin - blood | Adult | Family | Female | Polymorphism, Single Nucleotide | Type 2 diabetes | Adipose tissues | Genetic variation | Genetic aspects | Metabolism | Health aspects | Insulin | Index Medicus | Abridged Index Medicus
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