Identification of a Novel Tandem Duplication in Exon 1 of the TNFRSF11A Gene in Two Unrelated Patients With Familial Expansile Osteolysis-Reference-Cited by-同舟云学术

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Identification of a Novel Tandem Duplication in Exon 1 of the TNFRSF11A Gene in Two Unrelated Patients With Familial Expansile Osteolysis

Published:2003-02-01 Issue:2 Volume:18 Page:376-380
ISSN:0884-0431
Container-title:Journal of Bone and Mineral Research
language:en
Short-container-title:J Bone Miner Res

Author:

Johnson-Pais Teresa L,Singer Frederick R,Bone Henry G,McMurray Cynthia T,Hansen Marc F,Leach Robin J

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Reference13 articles.

1. Familial Expansile Osteolysis: A Genetic Model of Paget’s Disease

2. Genetic linkage of familial expansile osteolysis to chromosome 18q;Hughes;Hum Mol Genet,1994

3. Mutations in TNFRSF11A affecting the signal peptide of RANK, cause familial expansile osteolysis;Hughes;Nat Genet,2000

4. RANK is the intrinsic hematopoietic cell surface receptor that controls osteoclastogenesis and regulation of bone mass and calcium metabolism;Li;Proc Natl Acad Sci USA,2000

5. Computer prediction of RNA structure;Zuker;Methods Enzymol,1989

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1. Early identification of a 12-bp tandem duplication in TNFRSF11A encoding receptor activator of nuclear factor-kappa B (RANK): Clinical characterization and response to bisphosphonate therapy;Bone;2023-05

2. Familial Paget’s disease of bone with ocular manifestations and a novel TNFRSF11A duplication variant (72dup27);Journal of Bone and Mineral Metabolism;2022-12-15

3. Update on the pathogenesis and genetics of Paget’s disease of bone;Frontiers in Cell and Developmental Biology;2022-08-12

4. The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins;Journal of Human Genetics;2020-10-09

5. Genetic disorders associated with the RANKL/OPG/RANK pathway;Journal of Bone and Mineral Metabolism;2020-09-17

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