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A look behind the scenes: the risk and pathogenesis of primary osteoporosis

Nature reviews. Rheumatology, 2015-08, Vol.11 (8), p.462

2015

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Piezo1 Inactivation in Chondrocytes Impairs Trabecular Bone Formation

Journal of bone and mineral research, 2021-02, Vol.36 (2), p.369-384

2021

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WNT16 Requires Gα Subunits as Intracellular Partners for Both Its Canonical and Non-Canonical WNT Signalling Activity in Osteoblasts

Calcified tissue international, 2020-03, Vol.106 (3), p.294-302

2020

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Transgenic inhibition of interleukin-6 trans-signaling does not prevent skeletal pathologies in mucolipidosis type II mice

Scientific reports, 2021-02, Vol.11 (1), p.3556-3556, Article 3556

2021

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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

Calcified tissue international, 2021-12, Vol.109 (6), p.656-665

2021

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Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis

PLoS genetics, 2018-04, Vol.14 (4), p.e1007321-e1007321

2018

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Identification of Compound Heterozygous Variants in LRP4 Demonstrates That a Pathogenic Variant outside the Third β-Propeller Domain Can Cause Sclerosteosis

Genes, 2021-12, Vol.13 (1), p.80

2021

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Camurati-Engelmann Disease Complicated by Hypopituitarism: Management Challenges and Literature Review of Outcomes With Bisphosphonates

AACE clinical case reports, 2022-03, Vol.8 (2), p.58-64

2022

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A mosaic variant in CTNNB1/β-catenin as a novel cause for osteopathia striata with cranial sclerosis

The journal of clinical endocrinology and metabolism, 2024-06, Vol.109 (7), p.1891-1898

2024

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RUNX2‐related metaphyseal dysplasia with maxillary hypoplasia: A rare skeletal disorder resembling SFRP4‐related Pyle disease

Clinical genetics, 2024-04, Vol.105 (4), p.434-439

2024

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Genetic control of bone mass

Molecular and cellular endocrinology, 2016-09, Vol.432, p.3-13

2016

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An Additional Lrp4 High Bone Mass Mutation Mitigates the Sost-Knockout Phenotype in Mice by Increasing Bone Remodeling

Calcified tissue international, 2024-02, Vol.114 (2), p.171-181

2024

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A recessive form of craniodiaphyseal dysplasia caused by a homozygous missense variant in SP7/Osterix

Bone (New York, N.Y.), 2023-02, Vol.167, p.116633-116633, Article 116633

2023

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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

Calcified tissue international, 2023-11, Vol.113 (5), p.552-557

2023

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WNT16 Requires G[alpha] Subunits as Intracellular Partners for Both Its Canonical and Non-Canonical WNT Signalling Activity in Osteoblasts

Calcified tissue international, 2020-03, Vol.106 (3), p.294

2020

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Enzyme replacement therapy in mice lacking arylsulfatase B targets bone-remodeling cells, but not chondrocytes

Human molecular genetics, 2020-03, Vol.29 (5), p.803-816

2020

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The Lrp4R1170Q Homozygous Knock‐In Mouse Recapitulates the Bone Phenotype of Sclerosteosis in Humans

Journal of bone and mineral research, 2017-08, Vol.32 (8), p.1739-1749

2017

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Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia

Journal of medical genetics, 2023-05, Vol.60 (5), p.498

2023

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The Lrp4 R1170Q Homozygous Knock-In Mouse Recapitulates the Bone Phenotype of Sclerosteosis in Humans

Journal of bone and mineral research, 2017-08, Vol.32 (8), p.1739-1749

2017

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Variation in the Kozak sequence of WNT16 results in an increased translation and is associated with osteoporosis related parameters

Bone (New York, N.Y.), 2014-02, Vol.59, p.57-65

2014

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Genetic Screening of WNT4 and WNT5B in Two Populations with Deviating Bone Mineral Densities

Calcified tissue international, 2017-03, Vol.100 (3), p.244-249

2017

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High Bone Mass Disorders: New Insights From Connecting the Clinic and the Bench

Journal of bone and mineral research, 2023-02, Vol.38 (2), p.229-247

2023

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The Lysosomal Protein Arylsulfatase B Is a Key Enzyme Involved in Skeletal Turnover

Journal of bone and mineral research, 2018-12, Vol.33 (12), p.2186-2201

2018

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The mechanosensitive ion channel protein Piezo1 is essential for postnatal trabecular bone formation mediated by Col2a1-expressing cells

Bone Reports, 2022-05, Vol.16, p.101408, Article 101408

2022

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A look behind the scenes: the risk and pathogenesis of primary osteoporosis

Piezo1 Inactivation in Chondrocytes Impairs Trabecular Bone Formation

WNT16 Requires Gα Subunits as Intracellular Partners for Both Its Canonical and Non-Canonical WNT Signalling Activity in Osteoblasts

Transgenic inhibition of interleukin-6 trans-signaling does not prevent skeletal pathologies in mucolipidosis type II mice

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

Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis

Identification of Compound Heterozygous Variants in LRP4 Demonstrates That a Pathogenic Variant outside the Third β-Propeller Domain Can Cause Sclerosteosis

Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma

Camurati-Engelmann Disease Complicated by Hypopituitarism: Management Challenges and Literature Review of Outcomes With Bisphosphonates

A mosaic variant in CTNNB1/β-catenin as a novel cause for osteopathia striata with cranial sclerosis

RUNX2‐related metaphyseal dysplasia with maxillary hypoplasia: A rare skeletal disorder resembling SFRP4‐related Pyle disease

Genetic control of bone mass

An Additional Lrp4 High Bone Mass Mutation Mitigates the Sost-Knockout Phenotype in Mice by Increasing Bone Remodeling

A recessive form of craniodiaphyseal dysplasia caused by a homozygous missense variant in SP7/Osterix

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

WNT16 Requires G[alpha] Subunits as Intracellular Partners for Both Its Canonical and Non-Canonical WNT Signalling Activity in Osteoblasts

Enzyme replacement therapy in mice lacking arylsulfatase B targets bone-remodeling cells, but not chondrocytes

The Lrp4R1170Q Homozygous Knock‐In Mouse Recapitulates the Bone Phenotype of Sclerosteosis in Humans

Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia

The Lrp4 R1170Q Homozygous Knock-In Mouse Recapitulates the Bone Phenotype of Sclerosteosis in Humans

Variation in the Kozak sequence of WNT16 results in an increased translation and is associated with osteoporosis related parameters

Genetic Screening of WNT4 and WNT5B in Two Populations with Deviating Bone Mineral Densities

High Bone Mass Disorders: New Insights From Connecting the Clinic and the Bench

The Lysosomal Protein Arylsulfatase B Is a Key Enzyme Involved in Skeletal Turnover

The mechanosensitive ion channel protein Piezo1 is essential for postnatal trabecular bone formation mediated by Col2a1-expressing cells

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