Panostotic expansile bone disease with massive jaw tumor formation and a novel mutation in the signal peptide of RANK.

scientific article published on April 2014

Panostotic expansile bone disease with massive jaw tumor formation and a novel mutation in the signal peptide of RANK. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1002/JBMR.2094
P932PMC publication ID4419358
P698PubMed publication ID24014458

P50authorMichael P. WhyteQ89919619
Steven MummQ95336496
William H. McAlisterQ117472672
P2093author name stringMichael T Collins
Mark S Anderson
Edward C Hsiao
Ivan El-Sayed
Andrew E Horvai
Dolores M Shoback
Anne L Schafer
Andrea M Tom
Frederick V Schaefer
P2860cites workRANK is essential for osteoclast and lymph node developmentQ24598872
Tumor necrosis factor receptor family member RANK mediates osteoclast differentiation and activation induced by osteoprotegerin ligandQ24653311
Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysisQ28141482
OPGL is a key regulator of osteoclastogenesis, lymphocyte development and lymph-node organogenesisQ28589430
Multiple myeloma disrupts the TRANCE/ osteoprotegerin cytokine axis to trigger bone destruction and promote tumor progressionQ33944735
Familial expansile osteolysis (excessive RANK effect) in a 5-generation American kindredQ34559155
Activating mutations of the stimulatory G protein in the McCune-Albright syndromeQ34981177
Signal peptide mutations in RANK prevent downstream activation of NF-κB.Q36043987
Cancer to bone: a fatal attractionQ36884628
RANK is the intrinsic hematopoietic cell surface receptor that controls osteoclastogenesis and regulation of bone mass and calcium metabolismQ37108966
Targeting RANK/RANKL in the treatment of solid tumours and myelomaQ37694726
New knowledge on critical osteoclast formation and activation pathways from study of rare genetic diseases of osteoclasts: focus on the RANK/RANKL axis.Q37748586
Profound hypocalcemia following effective response to zoledronic acid treatment in a patient with juvenile Paget's disease.Q43039149
Clinical and biochemical response of TNFRSF11A-mediated early-onset familial Paget disease to bisphosphonate therapyQ46330772
Osteoprotegerin deficiency and juvenile Paget's diseaseQ48292818
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL.Q50335960
Phenotypic characterization of early onset Paget's disease of bone caused by a 27-bp duplication in the TNFRSF11A gene.Q50482693
The diagnostic utility of the GNAS mutation in patients with fibrous dysplasia: meta-analysis of 168 sporadic cases.Q54329444
Mutation Screening of the TNFRSF11A Gene Encoding Receptor Activator of NFkB (RANK) in Familial and Sporadic Paget's Disease of Bone and OsteosarcomaQ57534153
Giant cell tumor of bone: a unique paradigm of stromal-hematopoietic cellular interactionsQ72809734
Effect of alendronate treatment on the clinical picture and bone turnover markers in chronic idiopathic hyperphosphatasiaQ73535394
Expansile skeletal hyperphosphatasia is caused by a 15-base pair tandem duplication in TNFRSF11A encoding RANK and is allelic to familial expansile osteolysisQ77435071
RANK (receptor activator of nuclear factor kappa B) and RANK ligand are expressed in giant cell tumors of boneQ77684008
Osteogenic sarcoma in a child with familial expansile osteolysis syndrome: an accidental association?Q82959449
P433issue4
P407language of work or nameEnglishQ1860
P921main subjectbone diseaseQ4941552
P304page(s)911-921
P577publication date2014-04-01
P1433published inJournal of Bone and Mineral ResearchQ15750941
P1476titlePanostotic expansile bone disease with massive jaw tumor formation and a novel mutation in the signal peptide of RANK.
P478volume29