Found: 15
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Genetic Screening of WNT4 and WNT5B in Two Populations with Deviating Bone Mineral Densities.
- Published in:
- 2017
- By:
- Publication type:
- journal article
A Mosaic Variant in CTNNB1/β-catenin as a Novel Cause for Osteopathia Striata With Cranial Sclerosis.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 7, p. 1891, doi. 10.1210/clinem/dgad757
- By:
- Publication type:
- Article
Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis.
- Published in:
- PLoS Genetics, 2018, v. 14, n. 4, p. 1, doi. 10.1371/journal.pgen.1007321
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- Publication type:
- Article
RUNX2‐related metaphyseal dysplasia with maxillary hypoplasia: A rare skeletal disorder resembling SFRP4‐related Pyle disease.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 4, p. 434, doi. 10.1111/cge.14474
- By:
- Publication type:
- Article
Transgenic inhibition of interleukin-6 trans-signaling does not prevent skeletal pathologies in mucolipidosis type II mice.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-82802-3
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- Publication type:
- Article
Enzyme replacement therapy in mice lacking arylsulfatase B targets bone-remodeling cells, but not chondrocytes.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 5, p. 803, doi. 10.1093/hmg/ddaa006
- By:
- Publication type:
- Article
An Additional Lrp4 High Bone Mass Mutation Mitigates the Sost-Knockout Phenotype in Mice by Increasing Bone Remodeling.
- Published in:
- Calcified Tissue International, 2024, v. 114, n. 2, p. 171, doi. 10.1007/s00223-023-01158-0
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- Publication type:
- Article
Genetic Screening of ZNF687 and PFN1 in a Paget's Disease of Bone Cohort Indicates an Important Role for the Nuclear Localization Signal of ZNF687.
- Published in:
- Calcified Tissue International, 2023, v. 113, n. 5, p. 552, doi. 10.1007/s00223-023-01137-5
- By:
- Publication type:
- Article
A Panel-Based Sequencing Analysis of Patients with Paget's Disease of Bone Suggests Enrichment of Rare Genetic Variation in regulators of NF-κB Signaling and Supports the Importance of the 7q33 Locus.
- Published in:
- Calcified Tissue International, 2021, v. 109, n. 6, p. 656, doi. 10.1007/s00223-021-00881-w
- By:
- Publication type:
- Article
WNT16 Requires Gα Subunits as Intracellular Partners for Both Its Canonical and Non-Canonical WNT Signalling Activity in Osteoblasts.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Identification of Compound Heterozygous Variants in LRP4 Demonstrates That a Pathogenic Variant outside the Third β-Propeller Domain Can Cause Sclerosteosis.
- Published in:
- Genes, 2022, v. 13, n. 1, p. 80, doi. 10.3390/genes13010080
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- Publication type:
- Article
High Bone Mass Disorders: New Insights From Connecting the Clinic and the Bench.
- Published in:
- Journal of Bone & Mineral Research, 2023, v. 38, n. 2, p. 229, doi. 10.1002/jbmr.4715
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- Publication type:
- Article
Piezo1 Inactivation in Chondrocytes Impairs Trabecular Bone Formation.
- Published in:
- Journal of Bone & Mineral Research, 2021, v. 36, n. 2, p. 369, doi. 10.1002/jbmr.4198
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- Publication type:
- Article
The Lysosomal Protein Arylsulfatase B Is a Key Enzyme Involved in Skeletal Turnover.
- Published in:
- Journal of Bone & Mineral Research, 2018, v. 33, n. 12, p. 2186, doi. 10.1002/jbmr.3563
- By:
- Publication type:
- Article
The Lrp4R1170Q Homozygous Knock-In Mouse Recapitulates the Bone Phenotype of Sclerosteosis in Humans.
- Published in:
- Journal of Bone & Mineral Research, 2017, v. 32, n. 8, p. 1739, doi. 10.1002/jbmr.3160
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- Publication type:
- Article