Multiple versus solitary giant cell lesions of the jaw: Similar or distinct entities?

Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies

(2019) Oscar F. Chacon‐Camacho et al.   Molecular Genetics & Genomic Medicine

Non‐ossifying fibroma: A RAS‐MAPK driven benign bone neoplasm

(2019) Judith VMG Bovée et al.   JOURNAL OF PATHOLOGY

An Overview of the Derivation and Function of Multinucleated Giant Cells and Their Role in Pathological Processes

(2019) Patricia Joyce Brooks et al.   AMERICAN JOURNAL OF PATHOLOGY

Pharmacological inhibition of tankyrase induces bone loss in mice by increasing osteoclastogenesis

(2018) Shunichi Fujita et al.   BONE

Homozygous mutation in ELMO2 may cause Ramon syndrome

(2018) C. Mehawej et al.   CLINICAL GENETICS

The Rasopathy family: Consequences of germline activation of the RAS/MAPK pathway

(2018) Mylène Tajan et al.   ENDOCRINE REVIEWS

Denosumab as a Treatment Alternative for Central Giant Cell Granuloma: A Long-Term Retrospective Cohort Study

(2018) Marius Bredell et al.   JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY

Somatic activating mutations in MAP2K1 cause melorheostosis

(2018) Heeseog Kang et al.   Nature Communications

Bilateral Central Giant Cell Granuloma of the mandibular angle in three females from the same family

(2018) Simona Tecco et al.   Head & Face Medicine

Roles of Mitogen-Activated Protein Kinases in Osteoclast Biology

(2018) Kyunghee Lee et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Activating mutations in the MAP‐kinase pathway define non‐ossifying fibroma of bone

(2018) Daniel Baumhoer et al.   JOURNAL OF PATHOLOGY

TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw

(2018) Carolina Cavalieri Gomes et al.   Nature Communications

H3F3A mutation in giant cell tumour of the bone is detected by immunohistochemistry using a monoclonal antibody against the G34W mutated site of the histone H3.3 variant

(2017) Julian Lüke et al.   HISTOPATHOLOGY

Phenotypic and molecular differences between giant-cell tumour of soft tissue and its bone counterpart

(2017) Irene Mancini et al.   HISTOPATHOLOGY

Multiple central giant cell tumour lesions are exclusively linked to syndromes related to RAS/MAPK pathway anomalies

(2017) H. van den Berg et al.   INTERNATIONAL JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY

Spatial and temporal signal processing and decision making by MAPK pathways

(2017) Oguzhan Atay et al.   JOURNAL OF CELL BIOLOGY

Ras Signaling Regulates Stem Cells and Amelogenesis in the Mouse Incisor

(2017) X. Zheng et al.   JOURNAL OF DENTAL RESEARCH

Hyperparathyroidism Diagnosed Due to Brown Tumors of the Jaw: A Case Report and Literature Review

(2017) Philip Brabyn et al.   JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY

Somatic KRAS mutation in an infant with linear nevus sebaceous syndrome associated with lymphatic malformations

(2017) Jiang Lihua et al.   MEDICINE

Clinical and genetic analysis of patients with cherubism

(2017) RA Machado et al.   ORAL DISEASES

A review of craniofacial and dental findings of the RASopathies

(2017) H. Cao et al.   Orthodontics & Craniofacial Research

Specific mosaicKRASmutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis

(2016) S. Boppudi et al.   CLINICAL GENETICS

Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines

(2016) Henk van den Berg et al.   European Journal of Medical Genetics

Pathogenetics of the RASopathies

(2016) William E. Tidyman et al.   HUMAN MOLECULAR GENETICS

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

(2016) Natacha Kadlub et al.   HUMAN PATHOLOGY

Can calcitonin nasal spray reduce the risk of recurrence of central giant cell granuloma of the jaws? A double-blind clinical trial

(2016) R. Tabrizi et al.   INTERNATIONAL JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY

Transient Receptor Potential Vanilloid 4 Ion Channel Functions as a Pruriceptor in Epidermal Keratinocytes to Evoke Histaminergic Itch

(2016) Yong Chen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Reciprocal stabilization of ABL and TAZ regulates osteoblastogenesis through transcription factor RUNX2

(2016) Yoshinori Matsumoto et al.   JOURNAL OF CLINICAL INVESTIGATION

Multifocal tenosynovial giant cell tumors in a child with Noonan syndrome

(2016) Arthur B. Meyers et al.   PEDIATRIC RADIOLOGY

Oculoectodermal syndrome is a mosaic RASopathy associated withKRASalterations

(2015) Jacqueline D. Peacock et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A postzygoticNRASmutation in a patient with Schimmelpenning syndrome

(2015) Yukiko Kuroda et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

KRAS G12D mosaic mutation in a Chinese linear nevus sebaceous syndrome infant

(2015) Huijun Wang et al.   BMC Medical Genetics

SHP2 sails from physiology to pathology

(2015) Mylène Tajan et al.   European Journal of Medical Genetics

Expression profile of critical genes involved in FGF signaling pathway in the developing human primary dentition

(2015) Feng Huang et al.   HISTOCHEMISTRY AND CELL BIOLOGY

Inhibition of RANKL-induced osteoclastogenesis through the suppression of the ERK signaling pathway by astragaloside IV and attenuation of titanium-particle-induced osteolysis

(2015) MINGJUN LI et al.   INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE

A novel approach to the management of a central giant cell granuloma with denosumab: A case report and review of current treatments

(2015) Benjamin Gupta et al.   JOURNAL OF CRANIO-MAXILLOFACIAL SURGERY

Novel postzygoticKRASmutation in a Japanese case of epidermal nevus syndrome presenting with two distinct clinical features, keratinocytic epidermal nevi and sebaceous nevi

(2015) Satomi Igawa et al.   JOURNAL OF DERMATOLOGY

Somatic mosaicism: implications for disease and transmission genetics

(2015) Ian M. Campbell et al.   TRENDS IN GENETICS

Aggressive giant cell lesion of the jaws: a review of management options and report of a mandibular lesion treated with denosumab

(2015) John Edward O'Connell et al.   Oral Surgery Oral Medicine Oral Pathology Oral Radiology

Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis

(2014) R. Chakraborty et al.   BLOOD

Detecting somatic mosaicism: considerations and clinical implications

(2014) A.S.A. Cohen et al.   CLINICAL GENETICS

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

Alternative Pharmacologic Therapy for Aggressive Central Giant Cell Granuloma: Denosumab

(2014) Willem H. Schreuder et al.   JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY

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

(2014) Teruhito Yoshitaka et al.   Cell Reports

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

Mitogen-Activated Protein Kinase Pathways in Osteoblasts

(2013) Matthew B. Greenblatt et al.   Annual Review of Cell and Developmental Biology

The RASopathies

(2013) Katherine A. Rauen   Annual Review of Genomics and Human Genetics

Mechanisms of RAS/β-catenin interactions

(2013) Eva Zeller et al.   ARCHIVES OF TOXICOLOGY

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

Jaffe–Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder

(2013) Douglas R. Stewart et al.   GENETICS IN MEDICINE

A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions

(2013) Raphael Carapito et al.   JOURNAL OF HUMAN GENETICS

Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone

(2013) Sam Behjati et al.   NATURE GENETICS

Temporomandibular joint pain: A critical role for Trpv4 in the trigeminal ganglion

(2013) Yong Chen et al.   PAIN

Case report: Noonan syndrome with multiple giant cell lesions and review of the literature

(2012) Julia Karbach et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Innate Immune Function by Toll-like Receptors: Distinct Responses in Newborns and the Elderly

(2012) Tobias R. Kollmann et al.   IMMUNITY

Aggressive giant cell granuloma of the jaws treated with interferon alpha: a report of two cases

(2012) J. E. O’Connell et al.   IRISH JOURNAL OF MEDICAL SCIENCE

Mosaic Activating RAS Mutations in Nevus Sebaceus and Nevus Sebaceus Syndrome

(2012) Bryan K. Sun et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome

(2012) Leopold Groesser et al.   NATURE GENETICS

Cherubism: best clinical practice

(2012) Maria E Papadaki et al.   Orphanet Journal of Rare Diseases

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

Tankyrase Loses Its Grip on SH3BP2 in Cherubism

(2011) Agnes D. Berendsen et al.   CELL

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

(2011) Noam Levaot et al.   CELL

Structural Basis and Sequence Rules for Substrate Recognition by Tankyrase Explain the Basis for Cherubism Disease

(2011) Sebastian Guettler et al.   CELL

3BP2-deficient mice are osteoporotic with impaired osteoblast and osteoclast functions

(2011) Noam Levaot et al.   JOURNAL OF CLINICAL INVESTIGATION

Treatment of central giant-cell granulomas of the jaws in children: Conservative or radical surgical approach?

(2011) Nadia Theologie-Lygidakis et al.   JOURNAL OF CRANIO-MAXILLOFACIAL SURGERY

The skeleton: a multi-functional complex organ. The role of key signalling pathways in osteoclast differentiation and in bone resorption

(2011) David J Mellis et al.   JOURNAL OF ENDOCRINOLOGY

Management of Central Giant Cell Granuloma of Mandible Using Intralesional Corticosteroids: Case Report and Review of Literature

(2011) Carlo Ferretti et al.   JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY

Building strong bones: molecular regulation of the osteoblast lineage

(2011) Fanxin Long   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Erk1 Positively Regulates Osteoclast Differentiation and Bone Resorptive Activity

(2011) Yongzheng He et al.   PLoS One

Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

(2010) Simone Martinelli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cherubism gene Sh3bp2 is important for optimal bone formation, osteoblast differentiation, and function

(2010) Padma M. Mukherjee et al.   AMERICAN JOURNAL OF ORTHODONTICS AND DENTOFACIAL ORTHOPEDICS

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

(2010) Chiachien J. Wang et al.   BONE

Orthopedic and Orthodontic Treatment in Central Giant Cell Granuloma Treated with Calcitonin

(2010) Martín Romero et al.   CLEFT PALATE-CRANIOFACIAL JOURNAL

Noonan syndrome associated with central giant cell granuloma

(2010) Birsen Uçar et al.   CLINICAL GENETICS

Intralesional injection of triamcinolone hexacetonide as an alternative treatment for central giant-cell granuloma in 21 cases

(2010) R.L.M. Nogueira et al.   INTERNATIONAL JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY

Idiopathic bilateral central giant cell reparative granuloma of jaws: A case report and literature review

(2010) Erkan Orhan et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

3BP2 Adapter Protein Is Required for Receptor Activator of NFκB Ligand (RANKL)-induced Osteoclast Differentiation of RAW264.7 Cells

(2010) Amel GuezGuez et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Signal transduction by basic fibroblast growth factor in rat osteoblastic py1a cells

(2010) Marja M. Hurley et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Neurofibromatosis type 1 associated with bilateral central giant cell granuloma of the mandible

(2010) Bruno Ramos Chrcanovic et al.   JOURNAL OF CRANIO-MAXILLOFACIAL SURGERY

Management of a locally invasive Central Giant Cell Granuloma (CGCG) of mandible: Report of an extraordinary large case

(2010) Gholamreza Shirani et al.   JOURNAL OF CRANIO-MAXILLOFACIAL SURGERY

Central Giant Cell Granuloma of the Jaws

(2010) Gianluca Nicolai et al.   JOURNAL OF CRANIOFACIAL SURGERY

Postpubertal Nonfamilial Cherubism and Teeth Transposition

(2010) Bora Özan et al.   JOURNAL OF CRANIOFACIAL SURGERY

Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia

(2010) B. Perez et al.   JOURNAL OF MEDICAL GENETICS

Aggressive Central Giant Cell Granuloma of the Mandible

(2010) Petr Schütz et al.   JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY

SH3BP2 mutations potentiate osteoclastogenesis via PLCγ

(2010) Steven A. Lietman et al.   JOURNAL OF ORTHOPAEDIC RESEARCH

Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia

(2010) Charlotte M Niemeyer et al.   NATURE GENETICS

The role of pattern-recognition receptors in innate immunity: update on Toll-like receptors

(2010) Taro Kawai et al.   NATURE IMMUNOLOGY

Horror Autoinflammaticus: The Molecular Pathophysiology of Autoinflammatory Disease

(2009) Seth L. Masters et al.   Annual Review of Immunology

SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome

(2009) N Hanna et al.   CLINICAL GENETICS

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

(2009) William E Tidyman et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions

(2009) Claire Beneteau et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

GermlineBRAFmutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum

(2009) Anna Sarkozy et al.   HUMAN MUTATION

Surgical treatment and reconstruction for central giant cell granuloma of the jaws: A review of 18 cases

(2009) Paolo Tosco et al.   JOURNAL OF CRANIO-MAXILLOFACIAL SURGERY

Bone loss in inflammatory disorders

(2009) R Hardy et al.   JOURNAL OF ENDOCRINOLOGY

Encephalocraniocutaneous lipomatosis

(2009) U Moog   JOURNAL OF MEDICAL GENETICS

Alternative Indications for Bisphosphonate Therapy

(2009) Regina Landesberg et al.   JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY

Hyperparathyroidism

(2009) William D Fraser   LANCET

Extracellular Signal-Regulated Kinase 1 (ERK1) and ERK2 Play Essential Roles in Osteoblast Differentiation and in Supporting Osteoclastogenesis

(2009) T. Matsushita et al.   MOLECULAR AND CELLULAR BIOLOGY

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

(2009) Viviana Cordeddu et al.   NATURE GENETICS

A restricted spectrum of NRAS mutations causes Noonan syndrome

(2009) Ion C Cirstea et al.   NATURE GENETICS

Central giant cell lesion of the jaw: Nonsurgical treatment with calcitonin nasal spray

(2009) Dror M. Allon et al.   ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY AND ENDODONTICS

Aggressive Central Giant Cell Lesion of the Maxilla: Surgical Management and the Use of Adjuvant Interferon Alfa-2a

(2009) Stephen B. Baker et al.   PLASTIC AND RECONSTRUCTIVE SURGERY

Le chérubisme

(2009) M. Brix et al.   REVUE DE STOMATOLOGIE ET DE CHIRURGIE MAXILLO-FACIALE

Central giant cell granuloma of the jaws: clinical and radiological evaluation of 22 cases

(2009) Zhi-Jun Sun et al.   SKELETAL RADIOLOGY

Functions of RANKL/RANK/OPG in bone modeling and remodeling

(2008) Brendan F. Boyce et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Transcription factors controlling osteoblastogenesis

(2008) Pierre J. Marie   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

SH3BP2 is an activator of NFAT activity and osteoclastogenesis

(2008) Steven A. Lietman et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

(2008) Thomas E Neumann et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders

(2008) Yoko Aoki et al.   HUMAN MUTATION

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

Calcitonin: A non-invasive giant cells therapy

(2008) Hedelson Odenir Iecher Borges et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

NFATc1 in mice represses osteoprotegerin during osteoclastogenesis and dissociates systemic osteopenia from inflammation in cherubism

(2008) Antonios O. Aliprantis et al.   JOURNAL OF CLINICAL INVESTIGATION

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

(2008) VM Carvalho et al.   ORAL DISEASES

Differentiation of Osteoblasts and Osteocytes from Mesenchymal Stem Cells

(2008) Terhi Heino et al.   Current Stem Cell Research & Therapy

Runx2: of bone and stretch

(2007) Panos G. Ziros et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Macrophage activation by endogenous danger signals

(2007) X Zhang et al.   JOURNAL OF PATHOLOGY

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

(2007) Vinicius Magalhães Carvalho et al.   ORAL ONCOLOGY