✦ LIBER ✦

Novel missense mutations in the FOXC2 gene alter transcriptional activity

✍ Scribed by M.A.M. van Steensel; R.J. Damstra; M. Heitink; R.S. Bladergroen; J. Veraart; Peter M. Steijlen; M. van Geel

Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 174 KB
Volume: 30
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.21127

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel missense and frameshift mutations

Novel missense and frameshift mutations in the adrenoleukodystrophy gene

✍ Hisao Ueyama; Tsunekazu Yamano; Morimi Shimada; Iwao Ohkubo 📂 Article 📅 1996 🏛 Nature Publishing Group 🌐 English ⚖ 380 KB

Retinopathy mutations in the bZIP protei

Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity

✍ Atsuhiro Kanda; James S. Friedman; Koji M. Nishiguchi; Anand Swaroop 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 806 KB

The transcription factor neural retina leucine zipper (NRL) is required for rod photoreceptor differentiation during mammalian retinal development. NRL interacts with CRX, NR2E3, and other transcription factors and synergistically regulates the activity of photoreceptor-specific genes. Mutations in

Five novel missense mutations of the phe

Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria

✍ Paule Bénit; Françoise Rey; Dominique Melle; Arnold Munnich; Jean Rey 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 245 KB 👁 1 views

Missense polymorphism in the human carbo

Missense polymorphism in the human carboxypeptidase E gene alters enzymatic activity

✍ Hong Chen; Satya Jawahar; Yimei Qian; Quyen Duong; Gayun Chan; Alex Parker; Joan 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 444 KB

Carboxypeptidase E (CPE) is involved in the biosynthesis of peptide hormones and neurotransmitters, including insulin. One of the features of type 2 diabetes mellitus (T2DM) is an elevation in the proinsulin level and/or proinsulin/insulin molar ratio, suggesting that mutations in proinsulin process

Novel missense mutation in the phenylala

Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity

✍ Irma Dianzani; Per M. Knappskog; Luisa de Sanctis; Sergio Giannattasio; Enrica R 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 273 KB 👁 1 views

A missense mutation in the OCTN2 gene as

A missense mutation in the OCTN2 gene associated with residual carnitine transport activity

✍ Yuhuan Wang; Michelle A. Kelly; Tina M. Cowan; Nicola Longo 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 302 KB 👁 2 views

Primary carnitine deficiency is an autosomal recessive disorder of fatty acid oxidation caused by defective carnitine transport. This disease can present early in life with hypoketotic hypoglycemia and acute metabolic decompensation, or later in life with skeletal or cardiac myopathy. Mutations abol