✦ LIBER ✦

Absence of mutations in human ubiquitin fusion-degradation protein gene in tetralogy of Fallot

✍ Scribed by Ming-yi Chung; Jen-Her Lu; Ying-Yen Weng; BeTau Hwang

Publisher: Springer
Year: 2001
Tongue: English
Weight: 104 KB
Volume: 79
Category: Article
ISSN: 0946-2716
DOI: 10.1007/s001090100213

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutations of ZFPM2/FOG2 gene in sporadic

Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot

✍ Antonio Pizzuti; Anna Sarkozy; Anthea L. Newton; Emanuela Conti; Elisabetta Flex 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 119 KB

FIGURE 3. The E30S and S657G mutations do not signi¢cantly impair binding to the partner protein GATA4. A: GST pull-down assay showing retention of wild-type ZFPM2/FOG2, the E30S and S657G mutants by GATA4 N-¢nger. Input lanes show that equivalent amounts of wild-type and mutant ZFPM2/FOG2 proteins

Mutations of ZFPM2/FOG2 gene in sporadic

Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot

✍ Antonio Pizzuti; Anna Sarkozy; Anthea L. Newton; Emanuela Conti; Elisabetta Flex 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 177 KB

## Communicated by Arnold Munnich Two out of 47 patients with sporadic tetralogy of Fallot (TOF), the most common cyanotic conotruncal heart defect (CTD), showed heterozygous missense mutations of the ZFPM2/FOG2 gene. Knockout mice carrying mutations in the ZFPM2/FOG2 gene have similarly been foun

A novel mutation in the GATA4 gene in pa

A novel mutation in the GATA4 gene in patients with Tetralogy of Fallot

✍ Georges Nemer; Fatimah Fadlalah; Julnar Usta; Mona Nemer; Ghassan Dbaibo; Mounir 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 514 KB

In vertebrates, heart formation which integrates different structures and cell types is a complex process that involves a network of genes regulated by transcription factors. Proper spatiotemporal expression of these factors ensure the highly needed tight control of each step in organogenesis. A mis

Novel mutations of ubiquitin protein lig

Novel mutations of ubiquitin protein ligase 3A gene in Italian patients with Angelman syndrome

✍ S. Russo; F. Cogliati; M. Viri; F. Cavalleri; A. Selicorni; L. Turolla; S. Belli 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 42 KB 👁 2 views

Angelman syndrome is a neurobehavioral disorder caused by defects of imprinted gene(s) on chromosome 15q11-13. AS-specific DNA methylation is found in patients carrying 3-4 Mb deletions (∼ ∼70%), paternal uniparental disomy (3-5%) or imprinting center mutations (2-9%), while normal methylation patte

Absence of KLF6 gene mutations in human

Absence of KLF6 gene mutations in human astrocytic tumors and cell lines

✍ Pasi A. Koivisto; Xiaohui Zhang; Satu-Leena Sallinen; Pauli Sallinen; Heikki J. 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 French ⚖ 49 KB 👁 1 views

Loss of heterozygosity (LOH) on chromosome 10 is the most common genetic changes in glioblastomas of World Health Organization (WHO) Grade IV. [1][2][3][4][5][6][7] In most cases, the allelic losses involve loci along the entire chromosome, a finding in line with monosomy 10. LOH on chromosome 10 ma

Involvement of a cellular ubiquitin-prot

Involvement of a cellular ubiquitin-protein ligase E6AP in the ubiquitin-mediated degradation of extensive substrates of high-risk human papillomavirus E6

✍ Yoko Matsumoto; Shunsuke Nakagawa; Tetsu Yano; Shin Takizawa; Kazunori Nagasaka; 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 273 KB

Human scribble (hScrib), which was identified as substrate of human papillomavirus (HPV) E6 for ubiquitin-mediated degradation dependent on ubiquitin-protein ligase E6AP, is a human homolog of Drosophila neoplastic tumor suppressor scribble, in which mutation causes loss of polarity and overgrowth o