Clinical and Cellular Phenotypes Associated With Sequestosome 1 (SQSTM1) Mutations-Reference-Cited by-同舟云学术

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Clinical and Cellular Phenotypes Associated With Sequestosome 1 (SQSTM1) Mutations

Published:2006-12 Issue:S2 Volume:21 Page:P45-P50
ISSN:0884-0431
Container-title:Journal of Bone and Mineral Research
language:en
Short-container-title:J Bone Miner Res

Author:

Leach Robin J,Singer Frederick R,Ench Yasmin,Wisdom Julie H,Pina Diana S,Johnson-Pais Teresa L

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Reference20 articles.

1. 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;Kovach;Mol Genet Metab,2001

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

3. Paget disease of bone: Mapping of two loci on 5q35-qter and 5q31;Laurin;Am J Hum Genet,2001

4. Recurrent mutation in the gene encoding sequestosome 1 (SQSTM!/p62) in Paget disease of bone;Laurin;Am J Hum Genet,2002

5. Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease;Hocking;Hum Mol Genet,2002

Cited by 26 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. Multisystem proteinopathies (MSPs) and MSP‐like disorders: Clinical‐pathological‐molecular spectrum;Annals of Clinical and Translational Neurology;2023-03

2. Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis;Neurology Genetics;2022-01-12

3. SQSTM1 mutation: Description of the first Tunisian case and literature review;Molecular Genetics & Genomic Medicine;2020-11-02

4. Osteoclasts in Skeletal Diseases;Encyclopedia of Bone Biology;2020

5. Paget's disease of bone;Principles of Bone Biology;2020

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