✦ LIBER ✦

Activating and inactivating mutations in the human GNAS1 gene

✍ Scribed by Micheala A. Aldred; Richard C. Trembath

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 201 KB
Volume: 16
Category: Article
ISSN: 1059-7794
DOI: 10.1002/1098-1004(200009)16:3<183::aid-humu1>3.0.co;2-l

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutations in the human TWIST gene

✍ Karen W. Gripp; Elaine H. Zackai; Catherine A. Stolle 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 191 KB 👁 1 views

## Saethre -Chotzen syndrome is a relatively common craniosynostosis disorder with autosomal dominant inheritance. Mutations in the TWIST gene have been identified in patients with Saethre-Chotzen syndrome. The TWIST gene product is a transcription factor with DNA binding and helix-loop-helix domai

Mutations in the human TWIST gene

✍ Karen W. Gripp; Elaine H. Zackai; Catherine A. Stolle 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 59 KB 👁 1 views

Functionally inactivating point mutation

Functionally inactivating point mutation in the tumor-suppressor IRF-1 gene identified in human gastric cancer

✍ Hiroaki Nozawa; Eri Oda; Seiji Ueda; Gen Tamura; Chihaya Maesawa; Tetsuichiro Mu 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 French ⚖ 155 KB 👁 2 views

Loss of heterozygosity (LOH) observed in human tumors strongly suggests the existence of (a) tumor-suppressor gene(s) at the concerned locus. A series of studies has revealed that LOH on the long arm of chromosome 5 (5q) frequently occurs in differentiated gastric adenocarcinomas. Furthermore, it ha

Peutz-Jeghers syndrome: Four novel inact

Peutz-Jeghers syndrome: Four novel inactivating germline mutations in the STK11 gene

✍ Roland Kruse; Siegfried Uhlhaas; Christof Lamberti; Klaus M. Keller; Christian J 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 248 KB 👁 1 views

The diagnosis of Peutz-Jeghers syndrome is based on the occurrence of hamartomatous gastrointestinal polyps and perioral pigment spots. In view of the development of hamartomatous polyps in several syndromes and the variability of pigment spots in Peutz-Jeghers patients, identification of affected i

Inactivation of the PTEN/MMAC1/TEP1 gene

Inactivation of the PTEN/MMAC1/TEP1 gene in human lung cancers

✍ Takashi Kohno; Mina Takahashi; Ryokuhei Manda; Jun Yokota 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 145 KB 👁 2 views

The PTEN/MMAC1/TEP1 gene has been isolated as a tumor suppressor gene that is altered in several types of human tumors including brain, breast, and prostate cancers. In the present study, we report PTEN/MMAC1/TEP1 alterations in human lung cancers. Intragenic homozygous deletions were detected in 6

Madelung deformity in a girl with a nove

Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene

✍ Patrick Rump; Jan D.H. Jongbloed; Birgit Sikkema-Raddatz; Stefan Mundlos; Eva Kl 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 473 KB 👁 1 views

## Abstract Madelung deformity, a congenital anomaly of the wrist with subluxation of the ulna head, is not a widely recognized feature of Albright hereditary osteodystrophy. Here, we describe a young female with a bilateral Madelung deformity, mild cognitive disability, some dysmorphic facial feat