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life sciences & biomedicine (43) 43
science & technology (43) 43
humans (38) 38
female (24) 24
hajdu-cheney syndrome - genetics (24) 24
mutation (24) 24
male (23) 23
hajdu-cheney syndrome (21) 21
osteoporosis (21) 21
receptor, notch2 - genetics (21) 21
endocrinology & metabolism (20) 20
animals (18) 18
adult (13) 13
orthopedics (13) 13
hajdu-cheney syndrome - metabolism (12) 12
mice (12) 12
genetic aspects (11) 11
somatotropin (11) 11
hajdu-cheney syndrome - complications (10) 10
hajdu-cheney syndrome - pathology (10) 10
notch2 (10) 10
biological and medical sciences (9) 9
medical sciences (9) 9
receptor, notch2 - metabolism (9) 9
hajdu-cheney syndrome - drug therapy (8) 8
medicine & public health (8) 8
acro-osteolysis (7) 7
bone density (7) 7
child (7) 7
exons (7) 7
genetics & heredity (7) 7
hajdu-cheney syndrome - diagnostic imaging (7) 7
osteolysis (7) 7
young adult (7) 7
abridged index medicus (6) 6
acroosteolysis (6) 6
bone (6) 6
bone remodeling (6) 6
child, preschool (6) 6
hajdu-cheney syndrome - physiopathology (6) 6
hajdu–cheney syndrome (6) 6
osteoclasts - metabolism (6) 6
osteogenesis (6) 6
pedigree (6) 6
signal transduction (6) 6
biochemistry & molecular biology (5) 5
bone density conservation agents - therapeutic use (5) 5
cells, cultured (5) 5
diseases of the osteoarticular system (5) 5
dna mutational analysis (5) 5
fundamental and applied biological sciences. psychology (5) 5
hajdu cheney syndrome (5) 5
hajdu-cheney syndrome - diagnosis (5) 5
hajdu-cheney syndrome - immunology (5) 5
mice, inbred c57bl (5) 5
mice, transgenic (5) 5
osteoporosis - complications (5) 5
radiography (5) 5
receptors, notch - genetics (5) 5
research (5) 5
rheumatology (5) 5
adolescent (4) 4
age (4) 4
alagille syndrome (4) 4
analysis (4) 4
bones (4) 4
care and treatment (4) 4
disease models, animal (4) 4
endocrine system (4) 4
endocrine system diseases (4) 4
endocrinology (4) 4
fractures (4) 4
hajdu‐cheney syndrome (4) 4
medical genetics (4) 4
notch (4) 4
osteoblasts - metabolism (4) 4
osteoclasts (4) 4
osteoporosis - drug therapy (4) 4
osteoporosis - genetics (4) 4
osteoporosis. osteomalacia. paget disease (4) 4
phenotype (4) 4
physiological aspects (4) 4
treatment outcome (4) 4
abnormalities, multiple - genetics (3) 3
base sequence (3) 3
biocompatibility (3) 3
bone density - drug effects (3) 3
bone histomorphometry (3) 3
bone remodeling - drug effects (3) 3
case report (3) 3
cell differentiation (3) 3
dentistry (3) 3
dentistry, oral surgery & medicine (3) 3
diphosphonates - therapeutic use (3) 3
follow-up studies (3) 3
genes (3) 3
genetic disorders (3) 3
genetics of eukaryotes. biological and molecular evolution (3) 3
macrophages (3) 3
macrophages - metabolism (3) 3
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1. Full Text Notch signaling in human development and disease
by Penton, Andrea L and Leonard, Laura D and Spinner, Nancy B
Seminars in cell & developmental biology, ISSN 1084-9521, 06/2012, Volume 23, Issue 4, pp. 450 - 457
Spondylocostal dysostosis | Hajdu Cheney | Alagille syndrome | Notch signaling | Cardiac disease | Life Sciences & Biomedicine | Developmental Biology | Science & Technology | Cell Biology | Abnormalities, Multiple - metabolism | Heart Diseases - metabolism | Signal Transduction | Membrane Proteins - genetics | Receptors, Notch - metabolism | Humans | Intercellular Signaling Peptides and Proteins - genetics | Alagille Syndrome - metabolism | Hernia, Diaphragmatic - genetics | Receptors, Notch - physiology | Receptors, Notch - genetics | Hajdu-Cheney Syndrome - metabolism | Hajdu-Cheney Syndrome - genetics | Heart Defects, Congenital - genetics | Alagille Syndrome - genetics | Animals | Serrate-Jagged Proteins | Heart Defects, Congenital - metabolism | Mutation | Abnormalities, Multiple - genetics | Heart Diseases - genetics | Hernia, Diaphragmatic - metabolism | Calcium-Binding Proteins - genetics | Jagged-1 Protein | Index Medicus
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2. Full Text Antisense oligonucleotides targeting Notch2 ameliorate the osteopenic phenotype in a mouse model of Hajdu-Cheney syndrome
by Canalis, Ernesto and Grossman, Tamar R and Carrer, Michele and Schilling, Lauren and Yu, Jungeun
The Journal of biological chemistry, ISSN 0021-9258, 03/2020, Volume 295, Issue 12, pp. 3952 - 3964
Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Bone and Bones - pathology | RANK Ligand - metabolism | Receptor, Notch2 - antagonists & inhibitors | Oligonucleotides, Antisense - metabolism | Male | Muscle, Skeletal - metabolism | Receptor, Notch2 - genetics | Hajdu-Cheney Syndrome - metabolism | Osteoclasts - cytology | Basic Helix-Loop-Helix Transcription Factors - metabolism | Bone and Bones - diagnostic imaging | Cell Cycle Proteins - genetics | Female | Disease Models, Animal | Basic Helix-Loop-Helix Transcription Factors - genetics | Mice, Inbred C57BL | Cell Cycle Proteins - metabolism | Receptor, Notch2 - metabolism | Mice, Transgenic | Macrophages - cytology | Osteoclasts - metabolism | RANK Ligand - genetics | Point Mutation | Hajdu-Cheney Syndrome - pathology | Macrophages - metabolism | Phenotype | Animals | Oligonucleotides, Antisense - administration & dosage | Mice | Osteogenesis | Index Medicus
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3. Full Text Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss
by Simpson, Michael A and Irving, Melita D and Asilmaz, Esra and Gray, Mary J and Dafou, Dimitra and Elmslie, Frances V and Mansour, Sahar and Holder, Sue E and Brain, Caroline E and Burton, Barbara K and Kim, Katherine H and Pauli, Richard M and Aftimos, Salim and Stewart, Helen and Kim, Chong Ae and Holder-Espinasse, Muriel and Robertson, Stephen P and Drake, William M and Trembath, Richard C
Nature genetics, ISSN 1061-4036, 2011, Volume 43, Issue 4, pp. 303 - 305
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Osteoporosis. Osteomalacia. Paget disease | Complex syndromes | Diseases of the osteoarticular system | Medical genetics | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Exons | Humans | DNA, Complementary - genetics | Mutant Proteins - genetics | Receptor, Notch2 - metabolism | Male | Mutant Proteins - metabolism | Receptor, Notch2 - genetics | Hajdu-Cheney Syndrome - metabolism | Hajdu-Cheney Syndrome - genetics | Hajdu-Cheney Syndrome - pathology | Protein Sorting Signals - genetics | DNA Mutational Analysis | Pedigree | Base Sequence | Alleles | Female | Mutation | Osteoporosis | Somatotropin | Care and treatment | Gene mutations | Physiological aspects | Genetic aspects | Research | Osteolysis | Health aspects | Risk factors | Studies | Medical research | Bone density | Genes | Index Medicus
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4. Full Text Sustained Notch2 signaling in osteoblasts, but not in osteoclasts, is linked to osteopenia in a mouse model of Hajdu-Cheney syndrome
by Zanotti, Stefano and Yu, Jungeun and Sanjay, Archana and Schilling, Lauren and Schoenherr, Chris and Economides, Aris N and Canalis, Ernesto
The Journal of biological chemistry, ISSN 0021-9258, 2017, Volume 292, Issue 29, pp. 12232 - 12244
Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Up-Regulation | Humans | Male | Receptor, Notch2 - genetics | Hajdu-Cheney Syndrome - metabolism | Bone Marrow Cells - immunology | Gene Deletion | Female | Protein Interaction Domains and Motifs | Macrophages - immunology | Osteoclasts - pathology | Macrophages - pathology | Signal Transduction | Mice, Inbred C57BL | Bone Diseases, Metabolic - etiology | Bone Marrow Cells - pathology | Cells, Cultured | Receptor, Notch2 - metabolism | Mice, Transgenic | Hajdu-Cheney Syndrome - physiopathology | Osteoclasts - metabolism | Hajdu-Cheney Syndrome - immunology | Osteoblasts - pathology | Hajdu-Cheney Syndrome - pathology | Macrophages - metabolism | Animals | Alleles | Mutation | Osteoblasts - metabolism | Bone Marrow Cells - metabolism | Crosses, Genetic | Index Medicus | Molecular Bases of Disease | Notch pathway | conditional by inversion | Notch2 | Hajdu Cheney Syndrome | mouse genetics | bone remodeling | osteoblast | osteoclast | genetic disease
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5. Full Text Notch signaling suppresses glucose metabolism in mesenchymal progenitors to restrict osteoblast differentiation
by Lee, Seung-Yon and Long, Fanxin
The Journal of clinical investigation, ISSN 0021-9738, 12/2018, Volume 128, Issue 12, pp. 5573 - 5586
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Jagged-1 Protein - metabolism | Signal Transduction | Humans | Receptor, Notch2 - metabolism | Glucose - genetics | Mice, Transgenic | Receptor, Notch2 - genetics | Hajdu-Cheney Syndrome - metabolism | Mitochondria - metabolism | Electron Transport Complex I - metabolism | Jagged-1 Protein - genetics | Glycolysis - genetics | Hajdu-Cheney Syndrome - genetics | Hajdu-Cheney Syndrome - pathology | Animals | Mitochondria - genetics | Electron Transport Complex I - genetics | Oxygen Consumption - genetics | Glucose - metabolism | Cell Differentiation | Mice | Osteoblasts - metabolism | Mesenchymal Stem Cells - metabolism | Osteogenesis | Glucose metabolism | Research | Genetic transcription | Cell differentiation | Health aspects | Osteoblasts | Physiological aspects | Genetic aspects | Glucose | Dextrose | Stem cells | Osteoprogenitor cells | Phosphorylation | Transcription factors | Mesenchyme | Intracellular signalling | Kinases | Electron transport chain | Osteoporosis | Bone growth | Embryogenesis | Mitochondria | Clonal deletion | Cell fate | Bone marrow | Skeleton | Jagged1 protein | Age | NADH-ubiquinone oxidoreductase | Superoxide | Metabolism | Mammals | Fatty acids | Osteoblastogenesis | Glycolysis | Bone (long) | Mutation | Binding sites | Cancer | Index Medicus | Abridged Index Medicus
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6. Full Text Hajdu cheney mouse mutants exhibit osteopenia, increased osteoclastogenesis, and bone resorption
by Canalis, Ernesto and Schilling, Lauren and Yee, Siu-Pok and Lee, Sun-Kyeong and Zanotti, Stefano
The Journal of biological chemistry, ISSN 0021-9258, 01/2016, Volume 291, Issue 4, pp. 1538 - 1551
Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Bone Resorption | Femur - metabolism | Humans | Receptor, Notch2 - metabolism | Male | Receptor, Notch2 - genetics | Hajdu-Cheney Syndrome - metabolism | Hajdu-Cheney Syndrome - physiopathology | Mutation, Missense | Osteoclasts - cytology | Osteoclasts - metabolism | Bone Diseases, Metabolic - metabolism | Hajdu-Cheney Syndrome - genetics | Point Mutation | Animals | Female | Cell Differentiation | Mice | Bone Diseases, Metabolic - genetics | Bone Diseases, Metabolic - physiopathology | Femur - growth & development | Osteogenesis | Disease Models, Animal | Index Medicus | Molecular Bases of Disease | Notch pathway | bone | Notch protein | osteoblast | animal model | osteoclast | Hajdu Cheney syndrome
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7. Full Text Mice harboring a Hajdu Cheney Syndrome mutation are sensitized to osteoarthritis
by Zanotti, S and Yu, J and Bridgewater, D and Wolf, J.M and Canalis, E
Bone (New York, N.Y.), ISSN 8756-3282, 09/2018, Volume 114, pp. 198 - 205
Hajdu Cheney Syndrome | Osteoarthritis | Notch2 | Chondrocytes | Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Mice, Inbred C57BL | Cells, Cultured | Osteoarthritis - diagnostic imaging | Osteoarthritis - metabolism | Male | Mice, Transgenic | Receptor, Notch2 - genetics | Hajdu-Cheney Syndrome - metabolism | Mice, 129 Strain | Osteoarthritis - genetics | Hajdu-Cheney Syndrome - genetics | Mutation - physiology | Animals | Hajdu-Cheney Syndrome - diagnostic imaging | Mice | Somatotropin | Genetic aspects | Gene expression | Analysis | Index Medicus
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8. Full Text Mutations in NOTCH2 in patients with Hajdu–Cheney syndrome
by Zhao, W and Petit, E and Gafni, R I and Collins, M T and Robey, P G and Seton, M and Miller, K K and Mannstadt, M
Osteoporosis international, ISSN 0937-941X, 8/2013, Volume 24, Issue 8, pp. 2275 - 2281
NOTCH2 | Osteoporosis | Medicine & Public Health | Orthopedics | Rheumatology | Exome sequencing | Acroosteolysis | Hajdu–Cheney syndrome | Endocrinology | Hajdu-Cheney syndrome | Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Humans | Middle Aged | Finger Phalanges - diagnostic imaging | Male | Receptor, Notch2 - genetics | Radiography | Young Adult | Finger Phalanges - pathology | Hajdu-Cheney Syndrome - genetics | Exome - genetics | Hajdu-Cheney Syndrome - pathology | Pedigree | Adolescent | Hajdu-Cheney Syndrome - diagnostic imaging | Adult | Female | Heterozygote | Osteoporosis - genetics | Mutation | Sequence Analysis, DNA - methods | Finger Phalanges - abnormalities | Complications and side effects | Genetic disorders | Physiological aspects | Cellular signal transduction | Genetic aspects | Research | Risk factors | Patients | Index Medicus
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9. Full Text Induction of the Hajdu-Cheney Syndrome Mutation in CD19 B Cells in Mice Alters B-Cell Allocation but Not Skeletal Homeostasis
by Yu, Jungeun and Zanotti, Stefano and Schilling, Lauren and Schoenherr, Chris and Economides, Aris N and Sanjay, Archana and Canalis, Ernesto
The American journal of pathology, ISSN 0002-9440, 06/2018, Volume 188, Issue 6, pp. 1430 - 1446
Life Sciences & Biomedicine | Pathology | Science & Technology | B-Lymphocytes - cytology | Mice, Inbred C57BL | Homeostasis | Male | Muscle, Skeletal - metabolism | Hajdu-Cheney Syndrome - metabolism | Muscle, Skeletal - cytology | Mice, Knockout | Hajdu-Cheney Syndrome - genetics | Receptor, Notch2 - physiology | Hajdu-Cheney Syndrome - pathology | Animals | Female | Antigens, CD19 - metabolism | Mice | Mutation | B-Lymphocytes - metabolism | Index Medicus | Abridged Index Medicus
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10. Full Text Bone Structural Characteristics and Response to Bisphosphonate Treatment in Children With Hajdu-Cheney Syndrome
by Sakka, Sophia and Gafni, Rachel I and Davies, Justin H and Clarke, Bart and Tebben, Peter and Samuels, Mark and Saraff, Vrinda and Klaushofer, Klaus and Fratzl-Zelman, Nadja and Roschger, Paul and Rauch, Frank and Högler, Wolfgang
The journal of clinical endocrinology and metabolism, ISSN 0021-972X, 11/2017, Volume 102, Issue 11, pp. 4163 - 4172
Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Bone and Bones - physiology | Calcification, Physiologic - drug effects | Humans | Bone Density Conservation Agents - therapeutic use | Male | Receptor, Notch2 - genetics | Hajdu-Cheney Syndrome - metabolism | Hajdu-Cheney Syndrome - physiopathology | Hajdu-Cheney Syndrome - drug therapy | Case-Control Studies | Alendronate - therapeutic use | Bone and Bones - drug effects | Hajdu-Cheney Syndrome - genetics | Bone Density - drug effects | Adolescent | Diphosphonates - therapeutic use | Female | Imidazoles - therapeutic use | Mutation | Osteoclasts - physiology | Child | Osteoclasts - drug effects | Therapy | Radius | Energy consumption | Spine | Electron imaging | Spine (lumbar) | Backscattering | Males | Bone (trabecular) | Bisphosphonates | Bone resorption | Alendronic acid | Bone histomorphometry | Biomedical materials | Bone growth | Computed tomography | Mineralization | Zoledronic acid | Biocompatibility | Bone density | Children | Pretreatment | Bone (cortical) | Bone matrix | Dual energy X-ray absorptiometry | Patients | Pamidronic acid | Osteoclastogenesis | Computation | Biopsy | Bone mineral density | Bone imaging | Notch2 protein | Osteogenesis | Index Medicus | Abridged Index Medicus
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