Literature DB >> 11889411

Familial expansile osteolysis (excessive RANK effect) in a 5-generation American kindred.

Michael P Whyte1, William R Reinus, Michelle N Podgornik, Barbara G Mills.   

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Year:  2002        PMID: 11889411     DOI: 10.1097/00005792-200203000-00002

Source DB:  PubMed          Journal:  Medicine (Baltimore)        ISSN: 0025-7974            Impact factor:   1.889


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  8 in total

Review 1.  New knowledge on critical osteoclast formation and activation pathways from study of rare genetic diseases of osteoclasts: focus on the RANK/RANKL axis.

Authors:  J C Crockett; D J Mellis; D I Scott; M H Helfrich
Journal:  Osteoporos Int       Date:  2010-05-11       Impact factor: 4.507

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

Authors:  Anne L Schafer; Steven Mumm; Ivan El-Sayed; William H McAlister; Andrew E Horvai; Andrea M Tom; Edward C Hsiao; Frederick V Schaefer; Michael T Collins; Mark S Anderson; Michael P Whyte; Dolores M Shoback
Journal:  J Bone Miner Res       Date:  2014-04       Impact factor: 6.741

Review 3.  Osteoimmunology: interactions of the bone and immune system.

Authors:  Joseph Lorenzo; Mark Horowitz; Yongwon Choi
Journal:  Endocr Rev       Date:  2008-05-01       Impact factor: 19.871

4.  Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK.

Authors:  Michael P Whyte; Cristina Tau; William H McAlister; Xiafang Zhang; Deborah V Novack; Virginia Preliasco; Eduardo Santini-Araujo; Steven Mumm
Journal:  Bone       Date:  2014-07-23       Impact factor: 4.398

5.  Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia.

Authors:  M J Kovach; B Waggoner; S M Leal; D Gelber; R Khardori; M A Levenstien; C A Shanks; G Gregg; M T Al-Lozi; T Miller; W Rakowicz; G Lopate; J Florence; G Glosser; Z Simmons; J C Morris; M P Whyte; A Pestronk; V E Kimonis
Journal:  Mol Genet Metab       Date:  2001-12       Impact factor: 4.797

Review 6.  Paget's disease of bone-genetic and environmental factors.

Authors:  Frederick R Singer
Journal:  Nat Rev Endocrinol       Date:  2015-08-18       Impact factor: 43.330

7.  Intragenic SNP haplotypes associated with 84dup18 mutation in TNFRSF11A in four FEO pedigrees suggest three independent origins for this mutation.

Authors:  Elahe Elahi; Yousef Shafaghati; Sareh Asadi; Farnaz Absalan; Hani Goodarzi; Nava Gharaii; Mohammad Hassan Karimi-Nejad; Farhad Shahram; Anne E Hughes
Journal:  J Bone Miner Metab       Date:  2007-04-20       Impact factor: 2.626

8.  Early-onset Paget's disease of bone in a Mexican family caused by a novel tandem duplication (77dup27) in TNFRSF11A that encodes RANK.

Authors:  Sean J Iwamoto; Micol S Rothman; Shenghui Duan; Jonathan C Baker; Steven Mumm; Michael P Whyte
Journal:  Bone       Date:  2020-01-08       Impact factor: 4.398

  8 in total

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