Literature DB >> 12362049

Familial expansile osteolysis in a large Spanish kindred resulting from an insertion mutation in the TNFRSF11A gene.

L Palenzuela1, C Vives-Bauza, I Fernández-Cadenas, A Meseguer, N Font, E Sarret, S Schwartz, A L Andreu.   

Abstract

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Year:  2002        PMID： 12362049      PMCID： PMC1734982          DOI： 10.1136/jmg.39.10.e67

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  10 in total

1.  Paget's disease: epidemiology and pathophysiology.

Authors:  Margaret Seton
Journal:  Curr Osteoporos Rep       Date:  2008-12       Impact factor: 5.096

2.  Early onset Paget's disease of bone caused by a novel mutation (78dup27) of the TNFRSF11A gene in a Chinese family.

Authors:  Yao-hua Ke; Hua Yue; Jin-wei He; Yu-juan Liu; Zhen-lin Zhang
Journal:  Acta Pharmacol Sin       Date:  2009-07-06       Impact factor: 6.150

3.  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

Review 4.  Rare Inherited forms of Paget's Disease and Related Syndromes.

Authors:  Stuart H Ralston; J Paul Taylor
Journal:  Calcif Tissue Int       Date:  2019-02-13       Impact factor: 4.333

Review 5.  Osteoimmunology: crosstalk between the immune and bone systems.

Authors:  Tomoki Nakashima; Hiroshi Takayanagi
Journal:  J Clin Immunol       Date:  2009-07-08       Impact factor: 8.317

6.  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

7.  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.  Maternal RANKL Reduces the Osteopetrotic Phenotype of Null Mutant Mouse Pups.

Authors:  Benjamin Navet; Jorge William Vargas-Franco; Andrea Gama; Jérome Amiaud; Yongwon Choi; Hideo Yagita; Christopher G Mueller; Françoise Rédini; Dominique Heymann; Beatriz Castaneda; Frédéric Lézot
Journal:  J Clin Med       Date:  2018-11-08       Impact factor: 4.241

Review 9.  Update on the pathogenesis and genetics of Paget's disease of bone.

Authors:  Luigi Gennari; Domenico Rendina; Daniela Merlotti; Guido Cavati; Christian Mingiano; Roberta Cosso; Maria Materozzi; Filippo Pirrotta; Veronica Abate; Marco Calabrese; Alberto Falchetti
Journal:  Front Cell Dev Biol       Date:  2022-08-12

10.  Multiple Idiopathic Cervical Root Resorption: A Challenge for a Transdisciplinary Medical-Dental Team.

Authors:  Emily Y Chu; Janina Golob Deeb; Brian L Foster; Evlambia Hajishengallis; Martha J Somerman; Vivek Thumbigere-Math
Journal:  Front Dent Med       Date:  2021-03-26
  10 in total

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