✦ LIBER ✦

A novel type X collagen gene mutation (G595R) associated with Schmid-type metaphyseal chondrodysplasia

✍ Scribed by Y. Matsui; N. Yasui; H. Kawabata; K. Ozono; K. Nakata; T. Mizushima; N. Tsumaki; E. Kataoka; Y. Fujita; T. Ochi

Publisher: Nature Publishing Group
Year: 2000
Tongue: English
Weight: 596 KB
Volume: 45
Category: Article
ISSN: 1435-232X
DOI: 10.1007/s100380050024

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A recurrent 1992delCT mutation of the ty

A recurrent 1992delCT mutation of the type X collagen gene in a Japanese patient with Schmid metaphyseal chondrodysplasia

✍ Yoshito Matsui; Tomoatsu Kimura; Noriyuki Tsumaki; Natsuo Yasui; Takahiro Ochi 📂 Article 📅 1996 🏛 Nature Publishing Group 🌐 English ⚖ 283 KB

Novel missense mutation resulting in the

Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia

✍ Hideaki Sawai; Akinori Ida; Yuko Nakata; K. Koyama 📂 Article 📅 1998 🏛 Nature Publishing Group 🌐 English ⚖ 84 KB

Schmid-type metaphyseal chondrodysplasia

Schmid-type metaphyseal chondrodysplasia as the result of a collagen type X defect due to a novelCOL10A1nonsense mutation

✍ Julia V. Woelfle; R. E. Brenner; B. Zabel; H. Reichel; M. Nelitz 📂 Article 📅 2011 🏛 Springer Japan 🌐 English ⚖ 347 KB

Mutations in the N-terminal globular dom

Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia

✍ Shiro Ikegawa; Kozo Nakamura; Akira Nagano; Nobuhiko Haga; Yusuke Nakamura 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 206 KB 👁 2 views

Schmid metaphyseal chondrodysplasia (SMCD) is a relatively common, heritable osteochondrodysplasia characterized by short-limbed short stature with normal facies, and generalized metaphyseal dysplasias of the long and short tubular bones. Several mutations of the type X collagen gene (COL10A1) have

Early-onset metaphyseal chondrodysplasia

Early-onset metaphyseal chondrodysplasia type Schmid associated with a COL10A1 frame-shift mutation and impaired trimerization of wild-type α1(X) protein chains

✍ Outi Mäkitie; Miki Susic; William G. Cole 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 189 KB

## Abstract Both dominant‐negative and haploinsufficiency effects have been proposed in the pathogenesis of metaphyseal chondrodysplasia type Schmid (MCDS) due to nonsense and frame‐shift mutations of __COL10A1__. This study examines these alternative effects. A proband with typical early‐onset MCD

Concentration of mutations causing schmi

Concentration of mutations causing schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen

✍ Iain McIntosh; Margaret H. Abbott; Clair A. Francomano 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 579 KB

Schmid metaphyseal chondrodysplasia (SMCD) has previously been shown to be the result of mutations in the type X collagen gene, COLlOAl. A further three mutations have been identified, including two nonsense mutations (YZ68X, W651X) and a frameshift mutation (1856delCC). Each of the 10 SMCD mutation