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Genetic Risk Factors for Lumbar Disk Disease.
- Published in:
- 2001
- By:
- Publication type:
- Editorial
Osteogenesis imperfecta calls for caution-first letter.
- Published in:
- Nature Medicine, 1999, v. 5, n. 5, p. 466, doi. 10.1038/8326
- By:
- Publication type:
- Article
Osteogenesis Imperfecta: The Impact of Genotype and Clinical Phenotype on Adiposity and Resting Energy Expenditure.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 1, p. 67, doi. 10.1210/clinem/dgab679
- By:
- Publication type:
- Article
Cyclophilin B control of lysine post-translational modifications of skin type I collagen.
- Published in:
- PLoS Genetics, 2019, v. 15, n. 6, p. 1, doi. 10.1371/journal.pgen.1008196
- By:
- Publication type:
- Article
Characterization of Point Mutations in Type I Collagen by RNA/RNA Hybrid Analysis.
- Published in:
- Annals of the New York Academy of Sciences, 1990, v. 580, n. 1, p. 542, doi. 10.1111/j.1749-6632.1990.tb17985.x
- By:
- Publication type:
- Article
Sclerostin antibody improves skeletal parameters in a Brtl/+ mouse model of osteogenesis imperfecta.
- Published in:
- Journal of Bone & Mineral Research, 2013, v. 28, n. 1, p. 73, doi. 10.1002/jbmr.1717
- By:
- Publication type:
- Article
Near-Infrared Fluorescent Probe Traces Bisphosphonate Delivery and Retention In Vivo.
- Published in:
- Journal of Bone & Mineral Research, 2010, v. 25, n. 8, p. 1748, doi. 10.1002/jbmr.66
- By:
- Publication type:
- Article
Variable Bone Fragility Associated With an Amish COL1A2 Variant and a Knock-in Mouse Model.
- Published in:
- Journal of Bone & Mineral Research, 2010, v. 25, n. 2, p. 247, doi. 10.1359/jbmr.090720
- By:
- Publication type:
- Article
Alendronate Treatment of the Brtl Osteogenesis Imperfecta Mouse Improves Femoral Geometry and Load Response Before Fracture but Decreases Predicted Material Properties and Has Detrimental Effects on Osteoblasts and Bone Formation.
- Published in:
- Journal of Bone & Mineral Research, 2009, v. 24, n. 5, p. 849, doi. 10.1359/jbmr.081238
- By:
- Publication type:
- Article
Cellular Mechanism of Decreased Bone in Brtl Mouse Model of OI: Imbalance of Decreased Osteoblast Function and Increased Osteoclasts and Their Precursors.
- Published in:
- Journal of Bone & Mineral Research, 2008, v. 23, n. 12, p. 1983, doi. 10.1359/jbmr.080804
- By:
- Publication type:
- Article
Controlled Trial of Pamidronate in Children With Types III and IV Osteogenesis Imperfecta Confirms Vertebral Gains but Not Short-Term Functional Improvement.
- Published in:
- Journal of Bone & Mineral Research, 2005, v. 20, n. 6, p. 977, doi. 10.1359/JBMR.050109
- By:
- Publication type:
- Article
Brittle IV Mouse Model for Osteogenesis Imperfecta IV Demonstrates Postpubertal Adaptations to Improve Whole Bone Strength.
- Published in:
- Journal of Bone & Mineral Research, 2004, v. 19, n. 4, p. 614, doi. 10.1359/JBMR.040111
- By:
- Publication type:
- Article
Positive Linear Growth and Bone Responses to Growth Hormone Treatment in Children With Types III and IV Osteogenesis Imperfecta: High Predictive Value of the Carboxyterminal Propeptide of Type I Procollagen.
- Published in:
- Journal of Bone & Mineral Research, 2003, v. 18, n. 2, p. 237, doi. 10.1359/jbmr.2003.18.2.237
- By:
- Publication type:
- Article
Extension of Phenotype Associated with Structural Mutations in Type I Collagen: Siblings with Juvenile Osteoporosis Have an α2(I)Gly436 → Arg Substitution.
- Published in:
- Journal of Bone & Mineral Research, 1999, v. 14, n. 3, p. 449, doi. 10.1359/jbmr.1999.14.3.449
- By:
- Publication type:
- Article
Impaired Osteoblastogenesis in a Murine Model of Dominant Osteogenesis Imperfecta: A New Target for Osteogenesis Imperfecta Pharmacological Therapy.
- Published in:
- Stem Cells, 2012, v. 30, n. 7, p. 1465, doi. 10.1002/stem.1107
- By:
- Publication type:
- Article
Corrigendum: Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta.
- Published in:
- 2008
- By:
- Publication type:
- Correction Notice
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta.
- Published in:
- Nature Genetics, 2007, v. 39, n. 3, p. 359, doi. 10.1038/ng1968
- By:
- Publication type:
- Article
Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Type V OI primary osteoblasts display increased mineralization despite decreased COL1A1 expression.
- Published in:
- 2015
- By:
- Publication type:
- journal article
New genes in bone development: what's new in osteogenesis imperfecta.
- Published in:
- 2013
- By:
- Publication type:
- journal article
A Novel Mutation in LEPRE1 That Eliminates Only the KDEL ER- Retrieval Sequence Causes Non-Lethal Osteogenesis Imperfecta.
- Published in:
- PLoS ONE, 2012, v. 7, n. 5, p. 1, doi. 10.1371/journal.pone.0036809
- By:
- Publication type:
- Article
Differential expression of both extracellular and intracellular proteins is involved in the lethal or nonlethal phenotypic variation of BrtlIV, a murine model for osteogenesis imperfecta.
- Published in:
- Proteomics, 2007, v. 7, n. 11, p. 1877, doi. 10.1002/pmic.200600919
- By:
- Publication type:
- Article
Allele-specific Col1a1 silencing reduces mutant collagen in fibroblasts from Brtl mouse, a model for classical osteogenesis imperfecta.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 5, p. 667, doi. 10.1038/ejhg.2013.198
- By:
- Publication type:
- Article
Alzheimer's disease-causing proline substitutions lead to presenilin 1 aggregation and malfunction.
- Published in:
- EMBO Journal, 2015, v. 34, n. 22, p. 2820, doi. 10.15252/embj.201592042
- By:
- Publication type:
- Article
Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes.
- Published in:
- FEBS Journal, 2019, v. 286, n. 15, p. 3033, doi. 10.1111/febs.14963
- By:
- Publication type:
- Article
Hammerhead ribozymes selectively suppress mutant type I collagen mRNA in osteogenesis imperfecta fibroblasts.
- Published in:
- Nucleic Acids Research, 2000, v. 28, n. 20, p. 4013, doi. 10.1093/nar/28.20.4013
- By:
- Publication type:
- Article
MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.
- Published in:
- Nature Communications, 2016, v. 7, n. 7, p. 11920, doi. 10.1038/ncomms11920
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- Publication type:
- Article
Osteogenesis imperfecta.
- Published in:
- JAMA: Journal of the American Medical Association, 1997, v. 277, n. 9, p. 746, doi. 10.1001/jama.1997.03540330068037
- By:
- Publication type:
- Article
P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 12, p. 2207, doi. 10.1093/hmg/ddx110
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- Publication type:
- Article
Altered cytoskeletal organization characterized lethal but not surviving Brtl<sup>+/-</sup> mice: insight on phenotypic variability in osteogenesis imperfecta.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 21, p. 6118, doi. 10.1093/hmg/ddv328
- By:
- Publication type:
- Article
Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 16, p. 3535, doi. 10.1093/hmg/dds183
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- Publication type:
- Article
Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.
- Published in:
- Cell & Tissue Research, 2010, v. 339, n. 1, p. 59, doi. 10.1007/s00441-009-0872-0
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- Publication type:
- Article
Somatic activating mutations in MAP2K1 cause melorheostosis.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-03720-z
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- Publication type:
- Article
Osteogenesis Imperfecta: Mechanisms and Signaling Pathways Connecting Classical and Rare OI Types.
- Published in:
- Endocrine Reviews, 2022, v. 43, n. 1, p. 61, doi. 10.1210/endrev/bnab017
- By:
- Publication type:
- Article
Abnormal Type I Collagen Post-translational Modification and Crosslinking in a Cyclophilin B KO Mouse Model of Recessive Osteogenesis Imperfecta.
- Published in:
- PLoS Genetics, 2014, v. 10, n. 6, p. 1, doi. 10.1371/journal.pgen.1004465
- By:
- Publication type:
- Article
Kuskokwim Syndrome, a Recessive Congenital Contracture Disorder, Extends the Phenotype of FKBP10 Mutations.
- Published in:
- Human Mutation, 2013, v. 34, n. 9, p. 1279, doi. 10.1002/humu.22362
- By:
- Publication type:
- Article
Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix.
- Published in:
- Human Mutation, 2012, v. 33, n. 11, p. 1589, doi. 10.1002/humu.22139
- By:
- Publication type:
- Article
COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. 598, doi. 10.1002/humu.21475
- By:
- Publication type:
- Article
Y-position cysteine substitution in type I collagen (α1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.
- Published in:
- Human Mutation, 2007, v. 28, n. 4, p. 396, doi. 10.1002/humu.20456
- By:
- Publication type:
- Article
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.
- Published in:
- Human Mutation, 2007, v. 28, n. 3, p. 209, doi. 10.1002/humu.20429
- By:
- Publication type:
- Article
Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 2, p. 223, doi. 10.1093/hmg/ddp481
- By:
- Publication type:
- Article
Antagonism Between PEDF and TGF‐β Contributes to Type VI Osteogenesis Imperfecta Bone and Vascular Pathogenesis.
- Published in:
- Journal of Bone & Mineral Research, 2022, v. 37, n. 5, p. 925, doi. 10.1002/jbmr.4540
- By:
- Publication type:
- Article
Sclerostin Antibody–Induced Changes in Bone Mass Are Site Specific in Developing Crania.
- Published in:
- Journal of Bone & Mineral Research, 2019, v. 34, n. 12, p. 2301, doi. 10.1002/jbmr.3858
- By:
- Publication type:
- Article
Melorheostotic Bone Lesions Caused by Somatic Mutations in MAP2K1 Have Deteriorated Microarchitecture and Periosteal Reaction.
- Published in:
- Journal of Bone & Mineral Research, 2019, v. 34, n. 5, p. 883, doi. 10.1002/jbmr.3656
- By:
- Publication type:
- Article
Distinct Clinical and Pathological Features of Melorheostosis Associated With Somatic MAP2K1 Mutations.
- Published in:
- Journal of Bone & Mineral Research, 2019, v. 34, n. 1, p. 145, doi. 10.1002/jbmr.3577
- By:
- Publication type:
- Article
Low Dose of Bisphosphonate Enhances Sclerostin Antibody‐Induced Trabecular Bone Mass Gains in Brtl/+ Osteogenesis Imperfecta Mouse Model.
- Published in:
- Journal of Bone & Mineral Research, 2018, v. 33, n. 7, p. 1272, doi. 10.1002/jbmr.3421
- By:
- Publication type:
- Article
Hypermineralization and High Osteocyte Lacunar Density in Osteogenesis Imperfecta Type V Bone Indicate Exuberant Primary Bone Formation.
- Published in:
- Journal of Bone & Mineral Research, 2017, v. 32, n. 9, p. 1884, doi. 10.1002/jbmr.3180
- By:
- Publication type:
- Article
A Novel IFITM5 Mutation in Severe Atypical Osteogenesis Imperfecta Type VI Impairs Osteoblast Production of Pigment Epithelium-Derived Factor.
- Published in:
- Journal of Bone & Mineral Research, 2014, v. 29, n. 6, p. 1402, doi. 10.1002/jbmr.2173
- By:
- Publication type:
- Article
Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen.
- Published in:
- Human Mutation, 1998, v. 11, n. 5, p. 395, doi. 10.1002/(SICI)1098-1004(1998)11:5<395::AID-HUMU7>3.0.CO;2-4
- By:
- Publication type:
- Article