✦ LIBER ✦

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

✍ Scribed by Robin J Leach; Frederick R Singer; Yasmin Ench; Julie H Wisdom; Diana S Pina; Teresa L Johnson-Pais

Book ID: 119980762
Publisher: American Society for Bone and Mineral Research
Year: 2006
Tongue: English
Weight: 586 KB
Volume: 21
Category: Article
ISSN: 0884-0431
DOI: 10.1359/jbmr.06s208

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Human phenotypes associated with GATA-1

Human phenotypes associated with GATA-1 mutations

✍ Wendy A. Ciovacco; Wendy H. Raskind; Melissa A. Kacena 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 204 KB

Mutations of SQSTM1 are associated with

Mutations of SQSTM1 are associated with severity and clinical outcome in paget disease of bone

✍ Micaela Rios Visconti; Anne L Langston; Nerea Alonso; Kirsteen Goodman; Peter L 📂 Article 📅 2010 🏛 American Society for Bone and Mineral Research 🌐 English ⚖ 80 KB 👁 1 views

## Abstract Paget disease of bone (PDB) is a common disorder characterized by increased bone turnover at one of more sites throughout the skeleton. Genetic factors play an important role in the pathogenesis of PDB, and the most important predisposing gene is __SQSTM1__, which is mutated in about 10

Extending the phenotypes associated with

Extending the phenotypes associated with DICER1 mutations

✍ William D. Foulkes; Amin Bahubeshi; Nancy Hamel; Barbara Pasini; Sofia Asioli; G 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 136 KB

DICER1 is crucial for embryogenesis and early development. Forty different heterozygous germline DICER1 mutations have been reported worldwide in 42 probands that developed as children or young adults, pleuropulmonary blastoma (PPB), cystic nephroma (CN), ovarian sex cord-stromal tumors (especially

SPINK1 Mutations Are Associated with Mul

SPINK1 Mutations Are Associated with Multiple Phenotypes

✍ Pfützer, Roland H.; Whitcomb, David C. 📂 Article 📅 2001 🏛 S. Karger AG 🌐 English ⚖ 66 KB

Functional and structural studies of two

Functional and structural studies of two UBA domain missense mutations of sequestosome 1 (SQSTM1) in Paget's disease of bone

✍ A.J. Goode⁎; J. Long; B. Shaw; H. Williams; S. Ralston; M. Searle; R. Layfield 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 71 KB

Novel phenotype associated with OPA1 mut

Novel phenotype associated with OPA1 mutations?

✍ Markéta Tesařová; Viktor Stránecký; Hana Kratochvílová; Zuzana Hájková; Jana Slá 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 58 KB