Two Novel Mutations at Exon 8 of the Sequestosome 1 (SQSTM1) Gene in an Italian Series of Patients Affected by Paget's Disease of Bone (PDB)-Reference-Cited by-同舟云学术

Two Novel Mutations at Exon 8 of the Sequestosome 1 (SQSTM1) Gene in an Italian Series of Patients Affected by Paget's Disease of Bone (PDB)

Published:2004-02-02 Issue:6 Volume:19 Page:1013-1017
ISSN:0884-0431
Container-title:Journal of Bone and Mineral Research
language:en
Short-container-title:J Bone Miner Res

Author:

Falchetti Alberto,Di Stefano Marco,Marini Francesca,Del Monte Francesca,Mavilia Carmelo,Strigoli Debora,De Feo Maria L,Isaia Giovan,Masi Laura,Amedei Antonietta,Cioppi Federica,Ghinoi Valentina,Bongi Susanna Maddali,Di Fede Giuseppina,Sferrazza Carmela,Rini Giovan B,Melchiorre Daniela,Matucci-Cerinic Marco,Brandi Maria L

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Reference33 articles.

1. The epidemiology of Paget's disease in Britain: Is the prevalence decreasing?;Cooper;J Bone Miner Res,1999

2. Evidence for linkage between HLA and Paget's disease;Fotino;Transplant Proc,1977

3. Genetic linkage of Paget disease of the bone to chromosome 18q;Cody;Am J Hum Genet,1997

4. Absence of HLA linkage in a family with osteitis deformans (Paget's disease of bone);Moore;Tissue Antigens,1988

5. Paget's disease of bone: Evidence for a susceptibility locus on chromosome 18q and for genetic heterogeneity;Haslam;J Bone Miner Res,1998

Cited by 75 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. POS0346 IDENTIFICATION OF NEW MUTATIONS IN THE SQSMT1 GENE IN PATIENTS WITH PAGET’S DISEASE OF BONE. GENOTYPE-PHENOTYPE CORRELATION;Annals of the Rheumatic Diseases;2022-05-23

2. ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function;Cell Reports;2022-04

3. Pattern of SQSTM1 Gene Variants in a Hungarian Cohort of Paget’s Disease of Bone;Calcified Tissue International;2020-09-25

4. The role of sequestosome 1/p62 protein in amyotrophic lateral sclerosis and frontotemporal dementia pathogenesis;Neural Regeneration Research;2020

5. TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations;Journal of Clinical Investigation;2018-02-19