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Literature DB >> 11566119

Channelopathies: Kir2.1 mutations jeopardize many cell functions.

Abstract

Andersen's syndrome is caused by mutations in the potassium channel Kir2.1, a major determinant of resting membrane potential. The clinical features of this disease illustrate the importance of a stable resting membrane potential for many cell functions.

Entities: Disease Gene

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Year: 2001 PMID： 11566119 DOI： 10.1016/s0960-9822(01)00437-7

Source DB: PubMed Journal: Curr Biol ISSN： 0960-9822 Impact factor: 10.834

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Cited

17 in total

1. Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome.

Authors: Regina Preisig-Müller; Günter Schlichthörl; Tobias Goerge; Steffen Heinen; Andrea Brüggemann; Sindhu Rajan; Christian Derst; Rüdiger W Veh; Jürgen Daut
Journal: Proc Natl Acad Sci U S A Date: 2002-05-28 Impact factor: 11.205

2. Evidence for activity-dependent cortical wiring: formation of interhemispheric connections in neonatal mouse visual cortex requires projection neuron activity.

Authors: Hidenobu Mizuno; Tomoo Hirano; Yoshiaki Tagawa
Journal: J Neurosci Date: 2007-06-20 Impact factor: 6.167

3. Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families.

Authors: Byung-Ok Choi; Joonki Kim; Bum Chun Suh; Jin Seok Yu; Il Nam Sunwoo; Song Ja Kim; Gwang Hoon Kim; Ki Wha Chung
Journal: J Hum Genet Date: 2007-01-09 Impact factor: 3.172

4. Characterization of a novel, dominant negative KCNJ2 mutation associated with Andersen-Tawil syndrome.

Authors: Scott B Marrus; Phillip S Cuculich; Wei Wang; Jeanne M Nerbonne
Journal: Channels (Austin) Date: 2011-11-01 Impact factor: 2.581

5. Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome.

Authors: C-W Lu; J-H Lin; Y S Rajawat; H Jerng; T G Rami; X Sanchez; G DeFreitas; B Carabello; F DeMayo; D L Kearney; G Miller; H Li; P J Pfaffinger; N E Bowles; D S Khoury; J A Towbin
Journal: J Med Genet Date: 2006-03-29 Impact factor: 6.318

6. Bioelectric signalling via potassium channels: a mechanism for craniofacial dysmorphogenesis in KCNJ2-associated Andersen-Tawil Syndrome.

Authors: Dany Spencer Adams; Sebastien G M Uzel; Jin Akagi; Donald Wlodkowic; Viktoria Andreeva; Pamela Crotty Yelick; Adrian Devitt-Lee; Jean-Francois Pare; Michael Levin
Journal: J Physiol Date: 2016-04-13 Impact factor: 5.182

Channelopathies: Kir2.1 mutations jeopardize many cell functions.

1. Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome.

2. Evidence for activity-dependent cortical wiring: formation of interhemispheric connections in neonatal mouse visual cortex requires projection neuron activity.

3. Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families.

4. Characterization of a novel, dominant negative KCNJ2 mutation associated with Andersen-Tawil syndrome.

5. Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome.

6. Bioelectric signalling via potassium channels: a mechanism for craniofacial dysmorphogenesis in KCNJ2-associated Andersen-Tawil Syndrome.

Review 7. Andersen syndrome: the newest variant of the hereditary-familial long QT syndrome.

Review 8. Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias.

Review 9. Management and treatment of Andersen-Tawil syndrome (ATS).

10. Cholesterol sensitivity and lipid raft targeting of Kir2.1 channels.