✦ LIBER ✦

A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)

✍ Scribed by Inoue, Hiroshi; Tanizawa, Yukio; Wasson, Jon; Behn, Philip; Kalidas, Kamini; Bernal-Mizrachi, Ernesto; Mueckler, Mike; Marshall, Helen; Donis-Keller, Helen; Crock, Patricia; Rogers, Douglas; Mikuni, Masahiko; Kumashiro, Hisashi; Higashi, Koichiro; Sobue, Gen; Oka, Yoshitomo; Permutt, M. Alan

Book ID: 109686487
Publisher: Nature Publishing Group
Year: 1998
Tongue: English
Weight: 646 KB
Volume: 20
Category: Article
ISSN: 1061-4036
DOI: 10.1038/2441

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Deletion of mitochondrial DNA in a case

Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome)

✍ A. Rötig; V. Cormier; P. Chatelain; R. Francois; J. -M. Saudubray; P. Rustin; A. 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 203 KB

Identification of a novel mutation in th

Identification of a novel mutation in theGLUT2gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia

✍ Han-Wook Yoo; Young-Lim Shin; Eul-Ju Seo; Gu-Hwan Kim 📂 Article 📅 2002 🏛 Springer 🌐 English ⚖ 96 KB

A novel combination of mitochondrial tRN

A novel combination of mitochondrial tRNA and ND1 gene mutations in a syndrome with MELAS, cardiomyopathy, and diabetes mellitus

✍ Michaela Jaksch; Sabine Hofmann; Petra Kaufhold; Bert Obermaier-Kusser; Stephan 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 228 KB 👁 1 views

A novel frameshift mutation ofFOXC2 gene

A novel frameshift mutation ofFOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus

✍ Yildirim-Toruner, Cagri ;Subramanian, Kavitha ;El Manjra, Lamya ;Chen, Emily ;Go 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 208 KB 👁 2 views

The TMPRSS2 gene encoding transmembrane

The TMPRSS2 gene encoding transmembrane serine protease is overexpressed in a majority of prostate cancer patients: Detection of mutated TMPRSS2 form in a case of aggressive disease

✍ Markku H. Vaarala; Katja Porvari; Atte Kyllönen; Olavi Lukkarinen; Pirkko Vihko 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 French ⚖ 221 KB

The serine protease TMPRSS2 gene expression was studied by in situ hybridization using benign prostatic hyperplasia and prostate cancer tissue samples from 32 patients. Expression of TMPRSS2 gene was higher in cancer cells than that in benign cells in 84% of the specimens containing both benign and

The −374 T/A polymorphism in the gene en

The −374 T/A polymorphism in the gene encoding RAGE is associated with diabetic nephropathy and retinopathy in type 1 diabetic patients

✍ E. Lindholm; E. Bakhtadze; M. Sjögren; C. M. Cilio; E. Agardh; L. Groop; C.-D. A 📂 Article 📅 2006 🏛 Springer 🌐 English ⚖ 193 KB