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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 08/2018, Volume 115, Issue 34, pp. E8037 - E8046
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 11/2016, Volume 31, Issue 11, pp. 1930 - 1942
Bruck syndrome (BS) is a disorder characterized by joint flexion contractures and skeletal dysplasia that shows strong clinical overlap with the brittle bone... 
OSTEOGENESIS IMPERFECTA | PLOD2 | COLLAGEN | LYSYL HYDROXYLASE 2 | BRUCK SYNDROME | TOMOGRAPHY | PROTEIN | CROSS-LINKING | PHENOTYPE | IDENTIFICATION | BONE-COLLAGEN | SYNDROME-OSTEOGENESIS IMPERFECTA | ENDOCRINOLOGY & METABOLISM | MUTATIONS | SKIN | Bone and Bones - pathology | Conserved Sequence - genetics | Osteogenesis Imperfecta - metabolism | Musculoskeletal Abnormalities - complications | Musculoskeletal Abnormalities - pathology | X-Ray Microtomography | Arthrogryposis - diagnostic imaging | Peptides - metabolism | Bone and Bones - diagnostic imaging | Mass Spectrometry | Lysine - metabolism | Arthrogryposis - pathology | Amino Acid Sequence | Catalytic Domain | Collagen Type I - metabolism | Hydroxylation | Larva - metabolism | Musculoskeletal Abnormalities - diagnostic imaging | Arthrogryposis - complications | Osteogenesis Imperfecta - complications | Osteogenesis Imperfecta - diagnostic imaging | Cross-Linking Reagents - metabolism | Phenotype | Animals | Musculoskeletal Abnormalities - metabolism | Calcification, Physiologic | Zebrafish - metabolism | Arthrogryposis - metabolism | Osteogenesis Imperfecta - pathology | Notochord - pathology | Zebrafish Proteins - genetics | Bone and Bones - abnormalities | Codon, Nonsense - genetics | Evolution, Molecular | Enzymes | Dysplasia | Crosslinked polymers | Lysine | Analysis | Collagen | Abnormalities | Bones | Index Medicus
Journal Article
International Journal of Molecular Sciences, ISSN 1661-6596, 08/2017, Volume 18, Issue 8, p. 1820
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2017, Volume 7, Issue 1, pp. 16518 - 10
Homologous Recombination (HR) repair is essential for repairing DNA double strand breaks (DSB) in dividing cells and preventing tumorigenesis. BRCA2 plays an... 
REPAIR | EPITHELIUM | MULTIDISCIPLINARY SCIENCES | DNA-DAMAGE | DOUBLE-STRAND BREAKS | MODEL | INHIBITOR | FANCONI-ANEMIA | CANCER | TUMORIGENESIS | GENOME | BRCA2 protein | Statistical analysis | DNA damage | Homologous recombination | Radiation | Irradiated | Zebrafish | Recombinase | Double-strand break repair | Embryos | DNA recombinase | Haploinsufficiency | Intestine | Tumorigenesis | Tumors | Cancer | Index Medicus
Journal Article
Journal of the American College of Cardiology, ISSN 0735-1097, 2012, Volume 60, Issue 5, pp. 397 - 403
Objectives The purpose of this study was describe the cardiovascular phenotype of the aneurysms-osteoarthritis syndrome (AOS) and to provide clinical... 
Cardiovascular | Internal Medicine | aneurysm | aorta | genetics | SMAD3 | cerebrovascular disorders | FIBROSIS | CARDIAC & CARDIOVASCULAR SYSTEMS | TGF-BETA | CARDIOMYOPATHY | HEART-DISEASE | STIFFNESS | BICUSPID AORTIC-VALVE | MUTATIONS | MARFANS-SYNDROME | Aneurysm, Dissecting - genetics | Aortic Aneurysm, Thoracic - genetics | Aortic Aneurysm, Thoracic - diagnostic imaging | Humans | Middle Aged | Image Interpretation, Computer-Assisted | Male | Cardiovascular Diseases - genetics | Cause of Death | Osteoarthritis - mortality | Young Adult | Smad3 Protein - genetics | Cardiovascular Diseases - diagnostic imaging | Cardiovascular Diseases - mortality | Adult | Aortic Aneurysm, Thoracic - mortality | Female | Genomic Structural Variation - genetics | Aneurysm - diagnostic imaging | Imaging, Three-Dimensional | Peptide Fragments - genetics | Natriuretic Peptide, Brain - genetics | Vascular Stiffness - genetics | Osteoarthritis - diagnostic imaging | Osteoarthritis - genetics | Syndrome | Aneurysm - genetics | Cerebrovascular Disorders - mortality | Pregnancy | Phenotype | Adolescent | Cerebrovascular Disorders - diagnostic imaging | Chromosome Aberrations | Survival Analysis | Aneurysm, Dissecting - diagnostic imaging | Aged | Cerebrovascular Disorders - genetics | Aneurysm - mortality | Aortography | Genes, Dominant - genetics | Aneurysm, Dissecting - mortality | Cohort Studies | Medical colleges | Peptides | Atrial fibrillation | Aneurysms | Genetic aspects | Universities and colleges | Cardiology | Transforming growth factors | Marfan syndrome | Natriuretic peptides | Osteoarthritis | Medical genetics | Studies | Genotype & phenotype | Sinuses | Medical imaging | Mortality | Tomography | Arthritis | Dissection | Patients | Age | Abdomen | Index Medicus | Abridged Index Medicus
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 08/2006, Volume 355, Issue 8, pp. 788 - 798
Journal Article
Human Mutation, ISSN 1059-7794, 11/2014, Volume 35, Issue 11, pp. 1330 - 1341
The type I procollagen carboxyterminal( C ‐)propeptides are crucial in directing correct assembly of the procollagen heterotrimers. Defects in these domains... 
COL1A1 | unfolded protein response | C | COL1A2 | propeptide | genotype–phenotype | type I procollagen | osteogenesis imperfecta | , | Osteogenesis imperfecta | C-propeptide | Type I procollagen | COL1A1, COL1A2 | Genotype-phenotype | Unfolded protein response | IMPERFECTA TYPE-I | COLLAGEN MUTATION DATABASE | PRO-ALPHA-1(I) CHAIN | genotype-phenotype | NULL-ALLELE | COL1A1 GENE | CARBOXYL-TERMINAL PROPEPTIDE | MOLECULAR RECOGNITION | GENETICS & HEREDITY | OSTEOGENESIS-IMPERFECTA | FRAMESHIFT MUTATION | EHLERS-DANLOS-SYNDROME | Amino Acid Sequence | Procollagen | Genetic Association Studies | Exons | Humans | Collagen Type I - chemistry | Models, Molecular | Molecular Sequence Data | Osteogenesis Imperfecta - genetics | Genotype | Structure-Activity Relationship | Mutation, Missense | INDEL Mutation | Peptide Fragments - chemistry | Phenotype | Sequence Alignment | Collagen Type I - genetics | Protein Conformation | Peptide Fragments - deficiency | Peptide Fragments - genetics | Amino Acid Substitution | RNA | Collagen | Analysis | Crystals | Genetic research | Genetic aspects | Nucleotides | Structure | Genotype & phenotype | Mutation | Peptides | Defects | Crystal structure | Index Medicus | Peptide Fragments | Biochemistry, Molecular Biology | Collagen Type I | Osteogenesis Imperfecta | Life Sciences | Biomolecules
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 11/2008, Volume 359, Issue 21, pp. 2195 - 2207
In this trial, 17,802 healthy men and women with low-density lipoprotein cholesterol levels of less than 130 mg per deciliter and high-sensitivity C-reactive... 
MEDICINE, GENERAL & INTERNAL | DENSITY-LIPOPROTEIN CHOLESTEROL | APPARENTLY HEALTHY-MEN | STATIN THERAPY | INFLAMMATION | CARDIOVASCULAR-DISEASE | JUPITER TRIAL | RISK | PRAVASTATIN | CORONARY-HEART-DISEASE | PREDICTION | Myocardial Infarction - epidemiology | Follow-Up Studies | Cardiovascular Diseases - prevention & control | Glycated Hemoglobin A - metabolism | Humans | Middle Aged | Male | C-Reactive Protein - metabolism | Cardiovascular Diseases - blood | Cardiovascular Diseases - mortality | Cholesterol, LDL - blood | Female | Stroke - epidemiology | Muscular Diseases - chemically induced | Stroke - prevention & control | Double-Blind Method | Kaplan-Meier Estimate | Proportional Hazards Models | Rosuvastatin Calcium | Biomarkers - blood | Hydroxymethylglutaryl-CoA Reductase Inhibitors - adverse effects | Sulfonamides - therapeutic use | Pyrimidines - therapeutic use | Hydroxymethylglutaryl-CoA Reductase Inhibitors - therapeutic use | Pyrimidines - adverse effects | Sulfonamides - adverse effects | Diabetes Mellitus - chemically induced | Aged | Fluorobenzenes - adverse effects | Myocardial Infarction - prevention & control | Fluorobenzenes - therapeutic use | Prevention | Usage | C-reactive protein | Rosuvastatin | Cardiovascular diseases | Drug therapy | Health aspects | Proteins | Cardiovascular disease | Heart attacks | Cholesterol | Statins | Index Medicus | Abridged Index Medicus
Journal Article