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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.462-474

2015

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MECHANISMS IN ENDOCRINOLOGY: Genetics of human bone formation

European journal of endocrinology, 2017-08, Vol.177 (2), p.R69-R83

2017

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WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders

Frontiers in endocrinology (Lausanne), 2020-04, Vol.11, p.165-165

2020

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The role of extracellular modulators of canonical Wnt signaling in bone metabolism and diseases

Seminars in arthritis and rheumatism, 2013-10, Vol.43 (2), p.220-240

2013

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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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A Novel Domain‐Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone

Journal of bone and mineral research, 2016-04, Vol.31 (4), p.874-881

2016

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Bone Overgrowth-associated Mutations in the LRP4 Gene Impair Sclerostin Facilitator Function

The Journal of biological chemistry, 2011-06, Vol.286 (22), p.19489-19500

2011

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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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Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities

American journal of human genetics, 2018-08, Vol.103 (2), p.288-295

2018

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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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Gene set enrichment analysis reveals a first somatic mutation in the catalytic domain of MAP2K1 in a melorheostosis patient

Bone Reports, 2020-10, Vol.13, p.100357, Article 100357

2020

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Sclerosing bone dysplasias

Baillière's best practice & research. Clinical endocrinology & metabolism, 2018-10, Vol.32 (5), p.707-723

2018

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Compound heterozygosity of mutations located in the first and third β-propeller domain of LRP4 causes sclerosteosis in a Spanish patient

Bone Reports, 2020-10, Vol.13, p.100604, Article 100604

2020

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Functional assessment of coding and regulatory variants from the DKK1 locus

Bone Reports, 2020-10, Vol.13, p.100348, Article 100348

2020

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Wnt signaling: A win for bone

Archives of biochemistry and biophysics, 2008-05, Vol.473 (2), p.112-116

2008

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Camurati–Engelmann Disease

Calcified tissue international, 2019-05, Vol.104 (5), p.554-560

2019

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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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A multi-omics approach expands the mutational spectrum of MAP2K1-related melorheostosis

Bone (New York, N.Y.), 2020-08, Vol.137, p.115406-115406, Article 115406

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.498-504

2023

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Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

American journal of human genetics, 2020-11, Vol.107 (5), p.977-988

2020

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DNA Methylation Profiling and Genomic Analysis in 20 Children with Short Stature Who Were Born Small for Gestational Age

The journal of clinical endocrinology and metabolism, 2020-12, Vol.105 (12), p.1-e4741

2020

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

MECHANISMS IN ENDOCRINOLOGY: Genetics of human bone formation

WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders

The role of extracellular modulators of canonical Wnt signaling in bone metabolism and diseases

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

A Novel Domain‐Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone

Bone Overgrowth-associated Mutations in the LRP4 Gene Impair Sclerostin Facilitator Function

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

Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities

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

Gene set enrichment analysis reveals a first somatic mutation in the catalytic domain of MAP2K1 in a melorheostosis patient

Sclerosing bone dysplasias

Compound heterozygosity of mutations located in the first and third β-propeller domain of LRP4 causes sclerosteosis in a Spanish patient

Functional assessment of coding and regulatory variants from the DKK1 locus

Wnt signaling: A win for bone

Camurati–Engelmann 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

A multi-omics approach expands the mutational spectrum of MAP2K1-related melorheostosis

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

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

DNA Methylation Profiling and Genomic Analysis in 20 Children with Short Stature Who Were Born Small for Gestational Age

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