Detalhe da pesquisa
1.
RUNX2-related metaphyseal dysplasia with maxillary hypoplasia: A rare skeletal disorder resembling SFRP4-related Pyle disease.
Clin Genet
; 105(4): 434-439, 2024 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38108099
2.
An Additional Lrp4 High Bone Mass Mutation Mitigates the Sost-Knockout Phenotype in Mice by Increasing Bone Remodeling.
Calcif Tissue Int
; 114(2): 171-181, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38051321
3.
Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia.
J Med Genet
; 60(5): 498-504, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36241386
4.
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.
Calcif Tissue Int
; 113(5): 552-557, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37728743
5.
Enzyme replacement therapy in mice lacking arylsulfatase B targets bone-remodeling cells, but not chondrocytes.
Hum Mol Genet
; 29(5): 803-816, 2020 03 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31943020
6.
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.
Calcif Tissue Int
; 109(6): 656-665, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34173013
7.
Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis.
PLoS Genet
; 14(4): e1007321, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29621230
8.
WNT16 Requires Gα Subunits as Intracellular Partners for Both Its Canonical and Non-Canonical WNT Signalling Activity in Osteoblasts.
Calcif Tissue Int
; 106(3): 294-302, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31760436
9.
Genetic Screening of WNT4 and WNT5B in Two Populations with Deviating Bone Mineral Densities.
Calcif Tissue Int
; 100(3): 244-249, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28078366
10.
A mosaic variant in CTNNB1/ß-catenin as a novel cause for osteopathia striata with cranial sclerosis.
J Clin Endocrinol Metab
; 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38173341
11.
A perspective on muscle phenotyping in musculoskeletal research.
Trends Endocrinol Metab
; 2024 03 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38553405
12.
High Bone Mass Disorders: New Insights From Connecting the Clinic and the Bench.
J Bone Miner Res
; 38(2): 229-247, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36161343
13.
Camurati-Engelmann Disease Complicated by Hypopituitarism: Management Challenges and Literature Review of Outcomes With Bisphosphonates.
AACE Clin Case Rep
; 8(2): 58-64, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35415221
14.
Identification of Compound Heterozygous Variants in LRP4 Demonstrates That a Pathogenic Variant outside the Third ß-Propeller Domain Can Cause Sclerosteosis.
Genes (Basel)
; 13(1)2021 12 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35052419
15.
Transgenic inhibition of interleukin-6 trans-signaling does not prevent skeletal pathologies in mucolipidosis type II mice.
Sci Rep
; 11(1): 3556, 2021 02 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33574442
16.
Piezo1 Inactivation in Chondrocytes Impairs Trabecular Bone Formation.
J Bone Miner Res
; 36(2): 369-384, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33180356
17.
Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma.
Dis Model Mech
; 13(11)2020 11 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33023972
18.
A recessive form of craniodiaphyseal dysplasia caused by a homozygous missense variant in SP7/Osterix.
Bone
; 167: 116633, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36436818
19.
The Lysosomal Protein Arylsulfatase B Is a Key Enzyme Involved in Skeletal Turnover.
J Bone Miner Res
; 33(12): 2186-2201, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30075049
20.
The Lrp4R1170Q Homozygous Knock-In Mouse Recapitulates the Bone Phenotype of Sclerosteosis in Humans.
J Bone Miner Res
; 32(8): 1739-1749, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28477420