Clinical and genetic analysis of patients with cherubism

Defining a new aggressiveness classification and using NFATc1 localization as a prognostic factor in cherubism

(2016) Natacha Kadlub et al.   HUMAN PATHOLOGY

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

(2014) Tomoyuki Mukai et al.   JOURNAL OF BONE AND MINERAL RESEARCH

A Possible Case of Cherubism in a 17th-Century Korean Mummy

(2014) Israel Hershkovitz et al.   PLoS One

A c.1244G A (p.Arg415Gln) mutation in SH3BP2 gene causes cherubism in a Turkish family: Report of a family with review of the literature

(2014) AE. Sekerci et al.   Medicina Oral Patologia Oral y Cirugia Bucal

Novel nucleotide mutation leading to a recurrent amino acid alteration inSH3BP2in a patient with cherubism

(2013) Noriko Sangu et al.   CONGENITAL ANOMALIES

Characterization of a Norwegian cherubism cohort; molecular genetic findings, oral manifestations and quality of life

(2013) Trine Prescott et al.   European Journal of Medical Genetics

Cloning and characterization of the human SH3BP2 promoter

(2012) Chun Fan et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

The role of SH3BP2 in the pathophysiology of cherubism

(2012) Ernst J Reichenberger et al.   Orphanet Journal of Rare Diseases

A novel c.1255G>T (p.D419Y) mutation in SH3BP2 gene causes cherubism in a Turkish family

(2012) Nuriye Dinckan et al.   Oral Surgery Oral Medicine Oral Pathology Oral Radiology

Loss of Tankyrase-Mediated Destruction of 3BP2 Is the Underlying Pathogenic Mechanism of Cherubism

(2011) Noam Levaot et al.   CELL

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

(2010) Chiachien J. Wang et al.   BONE

Familial cherubism: the experience of the Moscow Central Institute for Stomatology and Maxillo-Facial Surgery

(2008) V.V. Roginsky et al.   INTERNATIONAL JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY

Novel mutations in theSH3BP2gene associated with sporadic central giant cell lesions and cherubism

(2008) VM Carvalho et al.   ORAL DISEASES

A novel mutation of the SH3BP2 gene in an aggressive case of cherubism

(2007) Vinicius Magalhães Carvalho et al.   ORAL ONCOLOGY