Impaired interaction between the slide helix and the C-terminus of Kir2.1: a novel mechanism of Andersen syndrome.
暂无分享,去创建一个
M. Sanguinetti | S. Heinemann | M. Keating | I. Splawski | K. Timothy | Vijay Renigunta | M. Zuzarte | N. Decher | J. Daut | M. Soom | Marylou Zuzarte
[1] S. Choe,et al. Andersen's syndrome mutation effects on the structure and assembly of the cytoplasmic domains of Kir2.1. , 2006, Biochemistry.
[2] Carlos G Vanoye,et al. Trafficking‐competent and trafficking‐defective KCNJ2 mutations in Andersen syndrome , 2006, Human mutation.
[3] P. Hutter,et al. Distinct patterns of germ‐line deletions in MLH1 and MSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC) , 2006, Human mutation.
[4] Colin G. Nichols,et al. KATP channels as molecular sensors of cellular metabolism , 2006, Nature.
[5] M. Tristani-Firouzi,et al. Andersen‐Tawil syndrome: Prospective cohort analysis and expansion of the phenotype , 2006, American journal of medical genetics. Part A.
[6] A. Karschin,et al. The Retention Factor p11 Confers an Endoplasmic Reticulum‐Localization Signal to the Potassium Channel TASK‐1 , 2006, Traffic.
[7] C. January,et al. HERG trafficking and pharmacological rescue of LQTS-2 mutant channels. , 2006, Handbook of experimental pharmacology.
[8] F. Lehmann-Horn,et al. Andersen–Tawil syndrome , 2005, Neurology.
[9] L. Schild,et al. Loss-of-function mutations of the K(+) channel gene KCNJ2 constitute a rare cause of long QT syndrome. , 2004, Journal of molecular and cellular cardiology.
[10] Martin Tristani-Firouzi,et al. Defective Potassium Channel Kir2.1 Trafficking Underlies Andersen-Tawil Syndrome* , 2003, Journal of Biological Chemistry.
[11] M. Konrad,et al. Classification and rescue of ROMK mutations underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome. , 2003, Kidney international.
[12] U. Hoppe,et al. Andersen mutations of KCNJ2 suppress the native inward rectifier current IK1 in a dominant-negative fashion. , 2003, Cardiovascular research.
[13] F. Ashcroft,et al. Crystal Structure of the Potassium Channel KirBac1.1 in the Closed State , 2003, Science.
[14] E. Behr,et al. PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome , 2003, Neurology.
[15] P. Ledaal,et al. These include: , 1993 .
[16] U. Hoppe,et al. A ndersen mutations of KCNJ 2 suppress the native inward rectifier current I in a dominant-negative fashionK , 2003 .
[17] 保坂 幸男. Function, subcellular localization and assembly of a novel mutation of KCNJ2 in Andersen's syndrome , 2003 .
[18] Stanley Nattel,et al. Kir2.4 and Kir2.1 K+ channel subunits co‐assemble: a potential new contributor to inward rectifier current heterogeneity , 2002, Journal of Physiology.
[19] Carlos G Vanoye,et al. KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. , 2002, American journal of human genetics.
[20] Hubert Kwiecinski,et al. Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). , 2002, The Journal of clinical investigation.
[21] Jian Yang,et al. Alterations in Conserved Kir Channel-PIP2 Interactions Underlie Channelopathies , 2002, Neuron.
[22] M. Horie,et al. Novel KCNJ2 Mutation in Familial Periodic Paralysis With Ventricular Dysrhythmia , 2002, Circulation.
[23] Christian Derst,et al. Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome , 2002, Proceedings of the National Academy of Sciences of the United States of America.
[24] Martin S. Taylor,et al. The severe G480C cystic fibrosis mutation, when replicated in the mouse, demonstrates mistrafficking, normal survival and organ-specific bioelectrics. , 2002, Human molecular genetics.
[25] S. Subramony,et al. Mutations in Kir2.1 Cause the Developmental and Episodic Electrical Phenotypes of Andersen's Syndrome , 2001, Cell.
[26] S. Heinemann,et al. Multiple PIP2 binding sites in Kir2.1 inwardly rectifying potassium channels , 2001, FEBS letters.
[27] Mark T. Nelson,et al. Targeted disruption of Kir2.1 and Kir2.2 genes reveals the essential role of the inwardly rectifying K(+) current in K(+)-mediated vasodilation. , 2000, Circulation research.
[28] S. Canún,et al. Andersen syndrome autosomal dominant in three generations. , 1999, American journal of medical genetics.
[29] M. Konrad,et al. Prenatal and postnatal management of hyperprostaglandin E syndrome after genetic diagnosis from amniocytes. , 1999, Pediatrics.
[30] Y. Jan,et al. A New ER Trafficking Signal Regulates the Subunit Stoichiometry of Plasma Membrane KATP Channels , 1999, Neuron.
[31] R. Griggs,et al. Andersen's syndrome: A distinct periodic paralysis , 1997, Annals of neurology.
[32] C. Nichols,et al. Inward rectifier potassium channels. , 1997, Annual review of physiology.
[33] Y. Jan,et al. Regions Responsible for the Assembly of Inwardly Rectifying Potassium Channels , 1996, Cell.
[34] M. Lazdunski,et al. Dominant negative chimeras provide evidence for homo and heteromultimeric assembly of inward rectifier K+ channel proteins via their N‐terminal end , 1996, FEBS letters.
[35] M. Macek,et al. Missense mutation (G480C) in the CFTR gene associated with protein mislocalization but normal chloride channel activity. , 1995, Human molecular genetics.
[36] Rabi Tawil,et al. Andersen's syndrome: Potassium‐sensitive periodic paralysis, ventricular ectopy, and dysmorphic features , 1994, Annals of neurology.
[37] Y. Kurachi,et al. Molecular cloning, functional expression and localization of a novel inward rectifier potassium channel in the rat brain , 1993, FEBS letters.
[38] Yoshihiro Kubo,et al. Primary structure and functional expression of a mouse inward rectifier potassium channel , 1993, Nature.
[39] P. Krasilnikoff,et al. INTERMITTENT MUSCULAR WEAKNESS, EXTRASYSTOLES, AND MULTIPLE DEVELOPMENTAL ANOMALIES , 1971, Acta paediatrica Scandinavica.
[40] D. Garcia-Dorado,et al. Cardiovascular Research , 1966 .