Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism
2006· article· en· Nature Genetics· Medicine
affsans résumé
1 198
citations
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Osteogenesis imperfecta
2004· article· en· The Lancet· Biochemistry, Genetics and Molecular Biology
affsans résumé
1 171
citations
779
citations
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans
2006· review· en· Human Mutation· Biochemistry, Genetics and Molecular Biology
aff
772
citations
Osteogenesis imperfecta
2017· review· en· Nature Reviews Disease Primers· Biochemistry, Genetics and Molecular Biology
affsans résumé
758
citations
Official Positions of the International Society for Clinical Densitometry and Executive Summary of the 2007 ISCD Pediatric Position Development Conference
2008· article· en· Journal of Clinical Densitometry· Medicine
affsans résumé
712
citations
International Society for Clinical Densitometry 2007 Adult and Pediatric Official Positions
2008· article· en· Bone· Health Professions
affsans résumé
577
citations
Cartilage in normal and osteoarthritis conditions
2008· review· en· Best Practice & Research Clinical Rheumatology· Medicine
affsans résumé
553
citations
CRTAP Is Required for Prolyl 3- Hydroxylation and Mutations Cause Recessive Osteogenesis Imperfecta
2006· article· en· Cell· Biochemistry, Genetics and Molecular Biology
affsans résumé
530
citations
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis
2006· article· en· Nature Genetics· Medicine
affsans résumé
526
citations
Type V Osteogenesis Imperfecta: A New Form of Brittle Bone Disease
2000· article· en· Journal of Bone and Mineral Research· Biochemistry, Genetics and Molecular Biology
aff
517
citations
Role of interleukin‐1 and tumor necrosis factor α in matrix degradation of human osteoarthritic cartilage
2005· article· en· Arthritis & Rheumatism· Medicine
aff
505
citations
Osteogenesis Imperfecta Type VI: A Form of Brittle Bone Disease with a Mineralization Defect
2002· article· en· Journal of Bone and Mineral Research· Biochemistry, Genetics and Molecular Biology
aff
444
citations
Targeted Inactivation of the 25-Hydroxyvitamin D3-1α-Hydroxylase Gene (CYP27B1) Creates an Animal Model of Pseudovitamin D-Deficiency Rickets*
2001· article· en· Endocrinology· Medicine
aff
404
citations
The ‘muscle-bone unit’ during the pubertal growth spurt
2004· article· en· Bone· Medicine
afffundsans résumé
398
citations
The chitinase 3-like protein human cartilage glycoprotein 39 (HC-gp39) stimulates proliferation of human connective-tissue cells and activates both extracellular signal-regulated kinase- and protein kinase B-mediated signalling pathways
2002· article· en· Biochemical Journal· Biochemistry, Genetics and Molecular Biology
afffund
397
citations
The Human Phenotype Ontology in 2024: phenotypes around the world
2023· article· en· Nucleic Acids Research· Biochemistry, Genetics and Molecular Biology
aff
375
citations
Peroxisome Proliferator-Activated Receptors
2003· article· en· Hypertension· Biochemistry, Genetics and Molecular Biology
aff
369
citations
Premature aging‐like phenotype in fibroblast growth factor 23 null mice is a vitamin D‐mediated process
2006· article· en· The FASEB Journal· Medicine
aff
344
citations
Deficient Mineralization of Intramembranous Bone in Vitamin D-24-Hydroxylase-Ablated Mice Is Due to Elevated 1,25-Dihydroxyvitamin D and Not to the Absence of 24,25-Dihydroxyvitamin D*
2000· article· en· Endocrinology· Medicine
aff
330
citations
Small artery remodeling is the most prevalent (earliest?) form of target organ damage in mild essential hypertension
2001· article· en· Journal of Hypertension· Medicine
aff
323
citations
Fibrosis—a lethal component of systemic sclerosis
2014· review· en· Nature Reviews Rheumatology· Medicine
afffundsans résumé
301
citations
Perinatal metabolism of vitamin D
2000· review· en· American Journal of Clinical Nutrition· Medicine
affsans résumé
295
citations
The effects of intravenous pamidronate on the bone tissue of children and adolescents with osteogenesis imperfecta
2002· article· en· Journal of Clinical Investigation· Biochemistry, Genetics and Molecular Biology
aff
292
citations
Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease
2002· article· en· Bone· Biochemistry, Genetics and Molecular Biology
affsans résumé
268
citations