TNFRSF11A c.601_603delinsTGT ;(p.R201C)

Variant ID: 18-60027267-AGA-TGT

NM_003839.3(TNFRSF11A):c.601_603delinsTGT;(p.R201C)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Cell surface-bound La protein regulates the cell fusion stage of osteoclastogenesis.

Nature Communications
Whitlock, Jarred M JM; Leikina, Evgenia E; Melikov, Kamran K; De Castro, Luis Fernandez LF; Mattijssen, Sandy S; Maraia, Richard J RJ; Collins, Michael T MT; Chernomordik, Leonid V LV
Publication Date: 2023-02-04

Variant appearance in text: RANK: R201C
PubMed Link: 36739273
Variant Present in the following documents:
  • Main text
View BVdb publication page



Activation of RANK/RANKL/OPG Pathway Is Involved in the Pathophysiology of Fibrous Dysplasia and Associated With Disease Burden.

Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research
de Castro, Luis F LF; Burke, Andrea B AB; Wang, Howard D HD; Tsai, Jeffrey J; Florenzano, Pablo P; Pan, Kristen S KS; Bhattacharyya, Nisan N; Boyce, Alison M AM; Gafni, Rachel I RI; Molinolo, Alfredo A AA; Robey, Pamela G PG; Collins, Michael T MT
Publication Date: 2019-02

Variant appearance in text: RANK: R201C
PubMed Link: 30496606
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical and translational pharmacological aspects of the management of fibrous dysplasia of bone.

British Journal Of Clinical Pharmacology
Rotman, Marlous M; Hamdy, Neveen Agnes Therese NAT; Appelman-Dijkstra, Natasha M NM
Publication Date: 2019-06

Variant appearance in text: RANK: R201C
PubMed Link: 30471134
Variant Present in the following documents:
  • Main text
  • BCP-85-1169.pdf
View BVdb publication page



Molecular, phenotypic aspects and therapeutic horizons of rare genetic bone disorders.

Biomed Research International
Faruqi, Taha T; Dhawan, Naveen N; Bahl, Jaya J; Gupta, Vineet V; Vohra, Shivani S; Tu, Khin K; Abdelmagid, Samir M SM
Publication Date: 2014

Variant appearance in text: RANK: R201C
PubMed Link: 25530967
Variant Present in the following documents:
  • BMRI2014-670842.pdf
View BVdb publication page



Denosumab treatment for fibrous dysplasia.

Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research
Boyce, Alison M AM; Chong, William H WH; Yao, Jack J; Gafni, Rachel I RI; Kelly, Marilyn H MH; Chamberlain, Christine E CE; Bassim, Carol C; Cherman, Natasha N; Ellsworth, Michelle M; Kasa-Vubu, Josephine Z JZ; Farley, Frances A FA; Molinolo, Alfredo A AA; Bhattacharyya, Nisan N; Collins, Michael T MT
Publication Date: 2012-07

Variant appearance in text: RANK: R201C
PubMed Link: 22431375
Variant Present in the following documents:
  • Main text
View BVdb publication page