✦ LIBER ✦

A novel type of mutation in the cysteine rich domain of the RET receptor causes ligand independent activation

✍ Scribed by Arlt, D H; Baur, B; Wagner, B; Höppner, W

Book ID: 110064009
Publisher: Nature Publishing Group
Year: 2000
Tongue: English
Weight: 144 KB
Volume: 19
Category: Article
ISSN: 0950-9232
DOI: 10.1038/sj.onc.1203688

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel mutation within the extracellula

A novel mutation within the extracellular domain of TrkA causes constitutive receptor activation

✍ Arevalo, Juan C; Conde, Blanca; Hempstead, Barbara I; Chao, Moses V; Martín-Zanc 📂 Article 📅 2001 🏛 Nature Publishing Group 🌐 English ⚖ 162 KB

Duplication of 9 base pairs in the criti

Duplication of 9 base pairs in the critical cysteine-rich domain of the RET proto-oncogene causes multiple endocrine neoplasia type 2A

✍ Dr. Wolfgang Höppner; Henning Dralle; Georg Brabant 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 475 KB

## Communicated b~ R.G.H. Cotton Activating germline mutations in the cysteine-rich domain of the RET proto-oncogene cause endocrine neoplasia type 2A, an autosomal dominant inherited cancer syndrome affecting cells derived from the neural crest, including medullary thyraid carcinoma

The Glu632-Leu633 deletion in cysteine r

The Glu632-Leu633 deletion in cysteine rich domain of Ret induces constitutive dimerization and alters the processing of the receptor protein

✍ Bongarzone, Italia; Vigano, Elena; Alberti, Luisella; Mondellini, Piera; Uggeri, 📂 Article 📅 1999 🏛 Nature Publishing Group 🌐 English ⚖ 288 KB

Novel FGFR3 mutations creating cysteine

Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia

✍ Heuertz, Solange; Le Merrer, Martine; Zabel, Bernhard; Wright, Michael; Legeai-M 📂 Article 📅 2006 🏛 Nature Publishing Group 🌐 English ⚖ 234 KB

Novel FGFR3 mutations creating cysteine

Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia

✍ Heuertz, Solange; Le Merrer, Martine; Zabel, Bernhard; Wright, Michael; Legeai-M 📂 Article 📅 2006 🏛 Nature Publishing Group 🌐 English ⚖ 39 KB

Night blindness–associated mutations in

Night blindness–associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking

✍ Christina Zeitz; Ursula Forster; John Neidhardt; Silke Feil; Stefan Kälin; Dorot 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 454 KB

Mutations in the GRM6 gene, which encodes the metabotropic glutamate receptor 6 (mGluR6), lead to autosomal recessive congenital stationary night blindness (CSNB), which is characterized by loss of night vision due to a defect in signal transmission from photoreceptor to the adjacent ON-bipolar cell