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Cherubism: best clinical practice

Orphanet journal of rare diseases, 2012-05, Vol.7 Suppl 1 (S1), p.S6-S6, Article S6

2012

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Alveolar Bone Protection by Targeting the SH3BP2‐SYK Axis in Osteoclasts

Journal of bone and mineral research, 2020-02, Vol.35 (2), p.382-395

2020

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Second‐Generation SYK Inhibitor Entospletinib Ameliorates Fully Established Inflammation and Bone Destruction in the Cherubism Mouse Model

Journal of bone and mineral research, 2018-08, Vol.33 (8), p.1513-1519

2018

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The role of SH3BP2 in the pathophysiology of cherubism

Orphanet journal of rare diseases, 2012-05, Vol.7 Suppl 1 (Suppl 1), p.S5-S5

2012

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Genetic Disruption of Anoctamin 5 in Mice Replicates Human Gnathodiaphyseal Dysplasia (GDD)

Calcified tissue international, 2019-06, Vol.104 (6), p.679-689

2019

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A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia

PloS one, 2013-08, Vol.8 (8), p.e73576-e73576

2013

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Enhanced TLR-MYD88 Signaling Stimulates Autoinflammation in SH3BP2 Cherubism Mice and Defines the Etiology of Cherubism

Cell reports (Cambridge), 2014-09, Vol.8 (6), p.1752-1766

2014

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Identification of ASAH1 as a susceptibility gene for familial keloids

European journal of human genetics : EJHG, 2017-10, Vol.25 (10), p.1155-1161

2017

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A Phe377del mutation in ANK leads to impaired osteoblastogenesis and osteoclastogenesis in a mouse model for craniometaphyseal dysplasia (CMD)

Human molecular genetics, 2011-03, Vol.20 (5), p.948-961

2011

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Craniometaphyseal Dysplasia Mutations in ANKH Negatively Affect Human Induced Pluripotent Stem Cell Differentiation into Osteoclasts

Stem cell reports, 2017-11, Vol.9 (5), p.1369-1376

2017

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Microbe‐Dependent Exacerbated Alveolar Bone Destruction in Heterozygous Cherubism Mice

JBMR plus, 2020-06, Vol.4 (6), p.e10352-n/a

2020

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Introduction of a Phe377del Mutation in ANK Creates a Mouse Model for Craniometaphyseal Dysplasia

Journal of bone and mineral research, 2009-07, Vol.24 (7), p.1206-1215

2009

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Oculofaciocardiodental Syndrome: A Rare Case and Review of the Literature

The Cleft palate-craniofacial journal, 2012-09, Vol.49 (5), p.55-60

2012

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Investigating global gene expression changes in a murine model of cherubism

Bone (New York, N.Y.), 2020-06, Vol.135, p.115315-115315, Article 115315

2020

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Etanercept Administration to Neonatal SH3BP2 Knock‐In Cherubism Mice Prevents TNF‐α‐Induced Inflammation and Bone Loss

Journal of bone and mineral research, 2014-05, Vol.29 (5), p.1170-1182

2014

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Restriction of Dietary Phosphate Ameliorates Skeletal Abnormalities in a Mouse Model for Craniometaphyseal Dysplasia

Journal of bone and mineral research, 2020-10, Vol.35 (10), p.2070-2081

2020

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Pro416Arg cherubism mutation in Sh3bp2 knock-in mice affects osteoblasts and alters bone mineral and matrix properties

Bone (New York, N.Y.), 2010-05, Vol.46 (5), p.1306-1315

2010

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Etanercept Administration to Neonatal SH3BP2 Knock-In Cherubism Mice Prevents TNF-[alpha]-Induced Inflammation and Bone Loss

Journal of bone and mineral research, 2014-05, Vol.29 (5), p.1170

2014

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SH3BP2 Cherubism Mutation Potentiates TNF‐α–Induced Osteoclastogenesis via NFATc1 and TNF‐α–Mediated Inflammatory Bone Loss

Journal of bone and mineral research, 2014-12, Vol.29 (12), p.2618-2635

2014

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A Site‐Specific Integrated Col2.3GFP Reporter Identifies Osteoblasts Within Mineralized Tissue Formed In Vivo by Human Embryonic Stem Cells

Stem cells translational medicine, 2014-10, Vol.3 (10), p.1125-1137

2014

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Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia

Scientific reports, 2017-02, Vol.7 (1), p.40935-40935, Article 40935

2017

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Generation of Keratinocytes from Human Induced Pluripotent Stem Cells Under Defined Culture Conditions

Cellular reprogramming, 2021-02, Vol.23 (1), p.1

2021

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Rapid degradation of progressive ankylosis protein (ANKH) in craniometaphyseal dysplasia

Scientific reports, 2018-10, Vol.8 (1), p.15710-13, Article 15710

2018

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ENPP1 enzyme replacement therapy improves ectopic calcification but does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia

JBMR plus, 2024-09, Vol.8 (9), p.ziae103

2024

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Induced pluripotent stem cell reprogramming by integration-free Sendai virus vectors from peripheral blood of patients with craniometaphyseal dysplasia

Cellular reprogramming, 2013-12, Vol.15 (6), p.503

2013

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Cherubism: best clinical practice

Alveolar Bone Protection by Targeting the SH3BP2‐SYK Axis in Osteoclasts

Second‐Generation SYK Inhibitor Entospletinib Ameliorates Fully Established Inflammation and Bone Destruction in the Cherubism Mouse Model

The role of SH3BP2 in the pathophysiology of cherubism

Genetic Disruption of Anoctamin 5 in Mice Replicates Human Gnathodiaphyseal Dysplasia (GDD)

A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia

Enhanced TLR-MYD88 Signaling Stimulates Autoinflammation in SH3BP2 Cherubism Mice and Defines the Etiology of Cherubism

Identification of ASAH1 as a susceptibility gene for familial keloids

A Phe377del mutation in ANK leads to impaired osteoblastogenesis and osteoclastogenesis in a mouse model for craniometaphyseal dysplasia (CMD)

Craniometaphyseal Dysplasia Mutations in ANKH Negatively Affect Human Induced Pluripotent Stem Cell Differentiation into Osteoclasts

Microbe‐Dependent Exacerbated Alveolar Bone Destruction in Heterozygous Cherubism Mice

Introduction of a Phe377del Mutation in ANK Creates a Mouse Model for Craniometaphyseal Dysplasia

Oculofaciocardiodental Syndrome: A Rare Case and Review of the Literature

Investigating global gene expression changes in a murine model of cherubism

Etanercept Administration to Neonatal SH3BP2 Knock‐In Cherubism Mice Prevents TNF‐α‐Induced Inflammation and Bone Loss

Restriction of Dietary Phosphate Ameliorates Skeletal Abnormalities in a Mouse Model for Craniometaphyseal Dysplasia

Pro416Arg cherubism mutation in Sh3bp2 knock-in mice affects osteoblasts and alters bone mineral and matrix properties

Etanercept Administration to Neonatal SH3BP2 Knock-In Cherubism Mice Prevents TNF-[alpha]-Induced Inflammation and Bone Loss

SH3BP2 Cherubism Mutation Potentiates TNF‐α–Induced Osteoclastogenesis via NFATc1 and TNF‐α–Mediated Inflammatory Bone Loss

A Site‐Specific Integrated Col2.3GFP Reporter Identifies Osteoblasts Within Mineralized Tissue Formed In Vivo by Human Embryonic Stem Cells

Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia

Generation of Keratinocytes from Human Induced Pluripotent Stem Cells Under Defined Culture Conditions

Rapid degradation of progressive ankylosis protein (ANKH) in craniometaphyseal dysplasia

ENPP1 enzyme replacement therapy improves ectopic calcification but does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia

Induced pluripotent stem cell reprogramming by integration-free Sendai virus vectors from peripheral blood of patients with craniometaphyseal dysplasia

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