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osteoporosis-pseudoglioma syndrome (53) 53
humans (44) 44
index medicus (32) 32
lrp5 (28) 28
female (24) 24
osteoporosis (24) 24
animals (23) 23
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male (22) 22
receptor-related protein-5 (22) 22
low density lipoprotein receptor-related protein-5 (19) 19
mice (19) 19
mutation (19) 19
osteoporosis - genetics (18) 18
ldl-receptor related proteins - genetics (17) 17
density (16) 16
mineral density (15) 15
bone density (14) 14
familial exudative vitreoretinopathy (14) 14
low density lipoprotein receptor-related protein-5 - genetics (13) 13
pedigree (13) 13
bone density - genetics (11) 11
child (11) 11
genetics & heredity (11) 11
signal transduction (11) 11
base sequence (10) 10
beta-catenin (10) 10
bones (10) 10
high-bone-mass (10) 10
low density lipoproteins (10) 10
orthopedics (10) 10
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wnt (10) 10
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gene (9) 9
osteogenesis imperfecta (9) 9
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bone mineral density (8) 8
genetic aspects (8) 8
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article (7) 7
blindness (7) 7
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missense mutations (7) 7
mutations (7) 7
osteogenesis imperfecta - genetics (7) 7
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proteins (7) 7
analysis (6) 6
cell biology (6) 6
child, preschool (6) 6
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gene mutations (6) 6
ldl-receptor related proteins - metabolism (6) 6
low density lipoprotein receptor-related protein-5 - metabolism (6) 6
lrp5 gene (6) 6
lrp5 protein (6) 6
mutation - genetics (6) 6
sclerostin (6) 6
van-buchem-disease (6) 6
biochemistry & molecular biology (5) 5
bone (5) 5
bone and bones - metabolism (5) 5
bone mass (5) 5
bone-mineral density (5) 5
children (5) 5
diphosphonates - therapeutic use (5) 5
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low density lipoprotein receptor-related protein-6 (5) 5
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osteoporosis pseudoglioma syndrome (5) 5
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ldl-receptor related proteins (4) 4
ldl-receptor-related-protein-5 lrp5 gene (4) 4
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Osteoporosis International, ISSN 0937-941X, 11/2017, Volume 28, Issue 11, pp. 3277 - 3280
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2015, Volume 96, Issue 6, pp. 971 - 978
Heparan and chondroitin/dermatan sulfated proteoglycans have a wide range of roles in cellular and tissue homeostasis including growth factor function,... 
PROTEOGLYCANS | OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME | INITIATION | BIOSYNTHESIS | DISEASE | GENETICS & HEREDITY | DISORDERS | HEPARAN-SULFATE | B3GALT6 | SPECTRUM | XYLOSYLTRANSFERASE-II | Immunohistochemistry | Osteochondrodysplasias - pathology | Retinal Detachment - pathology | Humans | Cataract - pathology | Molecular Sequence Data | Male | Retinal Detachment - drug therapy | Hearing Disorders - genetics | Osteochondrodysplasias - drug therapy | Osteochondrodysplasias - genetics | Base Sequence | Osteoporosis - diagnostic imaging | Diphosphonates - therapeutic use | Craniofacial Abnormalities - pathology | Osteoporosis - genetics | Pentosyltransferases - blood | Real-Time Polymerase Chain Reaction | Craniofacial Abnormalities - genetics | Frameshift Mutation - genetics | Pentosyltransferases - genetics | Eye Diseases, Hereditary - pathology | Craniofacial Abnormalities - drug therapy | Retinal Detachment - genetics | Sequence Analysis, DNA | Eye Diseases, Hereditary - drug therapy | Eye Diseases, Hereditary - genetics | Radiography | Homozygote | Exome - genetics | Pedigree | Hearing Disorders - pathology | Cataract - genetics | Cataract - drug therapy | Genetic disorders | Proteoglycans | Gene mutations | Physiological aspects | Nucleotide sequencing | Identification and classification | Health aspects | Methods | DNA sequencing | Report
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2010, Volume 152A, Issue 1, pp. 133 - 140
Journal Article
Human Mutation, ISSN 1059-7794, 04/2009, Volume 30, Issue 4, pp. 641 - 648
Journal Article
Cell, ISSN 0092-8674, 2001, Volume 107, Issue 4, pp. 513 - 523
In humans, low peak bone mass is a significant risk factor for osteoporosis. We report that LRP5, encoding the low-density lipoprotein receptor-related protein... 
MINERAL DENSITY | BIOCHEMISTRY & MOLECULAR BIOLOGY | MOUSE | OSTEOBLAST LINEAGE | MOLECULAR-CLONING | MICE | DIFFERENTIATION | BETA-CATENIN | OSTEOPOROSIS | CELL-DEATH | FAMILY | CELL BIOLOGY | Wnt2 Protein | Humans | Child, Preschool | Male | Bone Density - genetics | Wnt Proteins | Mesoderm - cytology | Wnt-5a Protein | Eye - embryology | Osteoporosis - genetics | Animals, Outbred Strains | Dishevelled Proteins | Bone Morphogenetic Proteins - pharmacology | Child | Organ Culture Techniques | Transforming Growth Factor beta | Signal Transduction | Chromosomes, Human, Pair 11 - genetics | Adaptor Proteins, Signal Transducing | Skull - cytology | Wnt3 Protein | Mice | Receptors, LDL - physiology | COS Cells | Species Specificity | LDL-Receptor Related Proteins | DNA, Complementary - genetics | Recombinant Fusion Proteins - physiology | Cercopithecus aethiops | Culture Media, Conditioned - pharmacology | Recombinant Proteins | Transfection | Receptors, LDL - deficiency | Stromal Cells - drug effects | Adult | Female | Phosphoproteins - physiology | Proteins - physiology | Receptors, LDL - genetics | Bone Morphogenetic Protein 2 | Low Density Lipoprotein Receptor-Related Protein-5 | Mice, Inbred C57BL | Zebrafish Proteins | Proto-Oncogene Proteins - genetics | Phosphoproteins - genetics | Eye Abnormalities - genetics | Genes, Recessive | Syndrome | Proteins - genetics | Animals | Proto-Oncogene Proteins - physiology | Heterozygote | Osteoblasts - metabolism | Stromal Cells - cytology | Wnt4 Protein | Osteoporosis | Bones | Density | Low density lipoproteins | Proteins | Cell research | Lipoproteins | Growth | Analysis | Physiological aspects | Receptors, LDL | Mesoderm | Osteoblasts | Recombinant Fusion Proteins | Eye | Life Sciences | Stromal Cells | Eye Abnormalities | Phosphoproteins | Proto-Oncogene Proteins | Bone Density | Biochemistry, Molecular Biology | Culture Media, Conditioned | Skull | Chromosomes, Human, Pair 11 | Bone Morphogenetic Proteins | DNA, Complementary
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