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Osteopetrosis and related osteoclast disorders in adults: A review and knowledge gapsOn behalf of the European calcified tissue society and ERN BOND

European journal of medical genetics, 2024-06, Vol.69, p.104936

2024

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Clinical features, treatment, and follow-up of OPPG and high-bone-mass disorders: LRP5 is a key regulator of bone mass

Osteoporosis international, 2024-04

2024

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The high-bone-mass phenotype of novel transgenic mice with LRP5 A241T mutation

Bone (New York, N.Y.), 2024-10, Vol.187, p.117172, Article 117172

2024

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Causal Factors for Knee, Hip, and Hand Osteoarthritis: A Mendelian Randomization Study in the UK Biobank

Arthritis & rheumatology (Hoboken, N.J.), 2019-10, Vol.71 (10), p.1634-1641

2019

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A Rare Mutation in SMAD9 Associated With High Bone Mass Identifies the SMAD‐Dependent BMP Signaling Pathway as a Potential Anabolic Target for Osteoporosis

Journal of bone and mineral research, 2020-01, Vol.35 (1), p.92-105

2020

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Genetics of Sost/SOST in sclerosteosis and van Buchem disease animal models

Metabolism, clinical and experimental, 2018-03, Vol.80 (C), p.38-47

2018

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Mef2c regulates bone mass through Sost-dependent and -independent mechanisms

Bone (New York, N.Y.), 2023-11, Vol.179 (N/A)

2023

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COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta

Human mutation, 2011-06, Vol.32 (6), p.598-609

2011

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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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The LRP5 high‐bone‐mass mutation causes alveolar bone accrual with minor craniofacial alteration

Journal of periodontal research, 2023-08, Vol.58 (4), p.723-732

2023

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Homozygous Dkk1 Knockout Mice Exhibit High Bone Mass Phenotype Due to Increased Bone Formation

Calcified tissue international, 2018, Vol.102 (1), p.105-116

2018

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Osteopetrosis and related osteoclast disorders in adults: A review and knowledge gaps On behalf of the European calcified tissue society and ERN BOND

European journal of medical genetics, 2024-06, Vol.69, p.104936-104936, Article 104936

2024

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Rare and Common Variants in GALNT3 May Affect Bone Mass Independently of Phosphate Metabolism

Journal of bone and mineral research, 2023-05, Vol.38 (5), p.678-691

2023

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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 novel FAM20C mutation causing hypophosphatemic osteomalacia with osteosclerosis (mild Raine syndrome) in an elderly man with spontaneous osteonecrosis of the knee

Osteoporosis international, 2019-03, Vol.30 (3), p.685-689

2019

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Mef2c regulates bone mass through Sost-dependent and -independent mechanisms

Bone (New York, N.Y.), 2024-02, Vol.179, p.116976-116976, Article 116976

2024

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Metabolomics analysis in adults with high bone mass identifies a relationship between bone resorption and circulating citrate which replicates in the general population

Clinical endocrinology (Oxford), 2020-01, Vol.92 (1), p.29-37

2020

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IDH2 deficiency increases bone mass with reduced osteoclastogenesis by limiting RANKL expression in osteoblasts

Bone (New York, N.Y.), 2019-12, Vol.129, p.115056-115056, Article 115056

2019

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Levels of serotonin, sclerostin, bone turnover markers as well as bone density and microarchitecture in patients with high‐bone‐mass phenotype due to a mutation in Lrp5

Journal of bone and mineral research, 2011-08, Vol.26 (8), p.1721-1728

2011

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High bone mass in adults

Joint, bone, spine : revue du rhumatisme, 2018-12, Vol.85 (6), p.693-699

2018

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Friend or foe: high bone mineral density on routine bone density scanning, a review of causes and management

Rheumatology (Oxford, England), 2013-06, Vol.52 (6), p.968-985

2013

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Absence of sclerostin adversely affects B-cell survival

Journal of bone and mineral research, 2012-07, Vol.27 (7), p.1451-1461

2012

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Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations

American journal of medical genetics. Part A, 2016-12, Vol.170A (12), p.3150-3156

2016

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High bone mass and cam morphology are independently related to hip osteoarthritis: findings from the High Bone Mass cohort

BMC musculoskeletal disorders, 2022-08, Vol.23 (1), p.757-757, Article 757

2022

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Novel familial mutation of LRP5 causing high bone mass: Genetic analysis, clinical presentation, and characterization of bone matrix mineralization

Bone (New York, N.Y.), 2018-02, Vol.107, p.154-160

2018

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Osteopetrosis and related osteoclast disorders in adults: A review and knowledge gapsOn behalf of the European calcified tissue society and ERN BOND

Clinical features, treatment, and follow-up of OPPG and high-bone-mass disorders: LRP5 is a key regulator of bone mass

The high-bone-mass phenotype of novel transgenic mice with LRP5 A241T mutation

Causal Factors for Knee, Hip, and Hand Osteoarthritis: A Mendelian Randomization Study in the UK Biobank

A Rare Mutation in SMAD9 Associated With High Bone Mass Identifies the SMAD‐Dependent BMP Signaling Pathway as a Potential Anabolic Target for Osteoporosis

Genetics of Sost/SOST in sclerosteosis and van Buchem disease animal models

Mef2c regulates bone mass through Sost-dependent and -independent mechanisms

COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta

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

The LRP5 high‐bone‐mass mutation causes alveolar bone accrual with minor craniofacial alteration

Homozygous Dkk1 Knockout Mice Exhibit High Bone Mass Phenotype Due to Increased Bone Formation

Osteopetrosis and related osteoclast disorders in adults: A review and knowledge gaps On behalf of the European calcified tissue society and ERN BOND

Rare and Common Variants in GALNT3 May Affect Bone Mass Independently of Phosphate Metabolism

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

A novel FAM20C mutation causing hypophosphatemic osteomalacia with osteosclerosis (mild Raine syndrome) in an elderly man with spontaneous osteonecrosis of the knee

Mef2c regulates bone mass through Sost-dependent and -independent mechanisms

Metabolomics analysis in adults with high bone mass identifies a relationship between bone resorption and circulating citrate which replicates in the general population

IDH2 deficiency increases bone mass with reduced osteoclastogenesis by limiting RANKL expression in osteoblasts

Levels of serotonin, sclerostin, bone turnover markers as well as bone density and microarchitecture in patients with high‐bone‐mass phenotype due to a mutation in Lrp5

High bone mass in adults

Friend or foe: high bone mineral density on routine bone density scanning, a review of causes and management

Absence of sclerostin adversely affects B-cell survival

Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations

High bone mass and cam morphology are independently related to hip osteoarthritis: findings from the High Bone Mass cohort

Novel familial mutation of LRP5 causing high bone mass: Genetic analysis, clinical presentation, and characterization of bone matrix mineralization

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