✦ LIBER ✦

Variable loss of Kir4.1 channel function in SeSAME syndrome mutations

✍ Scribed by Xiaofang Tang; Darwin Hang; Andrea Sand; Paulo Kofuji

Book ID: 118426395
Publisher: Elsevier Science
Year: 2010
Tongue: English
Weight: 437 KB
Volume: 399
Category: Article
ISSN: 0006-291X
DOI: 10.1016/j.bbrc.2010.07.105

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Functional Characterization of Mutations

Functional Characterization of Mutations in Kir4.1 (KCNJ10) Associated with the SeSAME Syndrome

✍ Sala-Rabanal, Monica; Eaton, Misty J.; Nichols, Colin G. 📂 Article 📅 2010 🏛 Biophysical Society 🌐 English ⚖ 44 KB

Characterizations of a loss-of-function

Characterizations of a loss-of-function mutation in the Kir3.4 channel subunit

✍ Kirstine Calloe; Lasse Steen Ravn; Nicole Schmitt; Jin Liang Sui; Morten Duno; S 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 176 KB

Functional expression of Kir4.1 channels

Functional expression of Kir4.1 channels in spinal cord astrocytes

✍ M.L. Olsen; H. Higashimori; S.L. Campbell; J.J. Hablitz; H. Sontheimer 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 641 KB

## Abstract Spinal cord astrocytes (SCA) have a high permeability to K^+^ and hence have hyperpolarized resting membrane potentials. The underlying K^+^ channels are believed to participate in the uptake of neuronally released K^+^. These K^+^ channels have been studied extensively with regard to t

Loss of function mutations in SIL1 cause

Loss of function mutations in SIL1 cause Marinesco–Sjögren syndrome

✍ JM Van Raamsdonk 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 123 KB

Loss-of-function mutations in FGFR1 caus

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome

✍ Dodé, Catherine; Levilliers, Jacqueline; Dupont, Jean-Michel; De Paepe, Anne; Le 📂 Article 📅 2003 🏛 Nature Publishing Group 🌐 English ⚖ 85 KB

Arts Syndrome Is Caused by Loss-of-Funct

Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1

✍ Arjan P.M. de Brouwer; Kelly L. Williams; John A. Duley; André B.P. van Kuilenbu 📂 Article 📅 2007 🏛 American Society of Human Genetics 🌐 English ⚖ 362 KB