CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Hypomagnesemia
出版年份 2014 全文链接
标题
CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Hypomagnesemia
作者
关键词
Zebrafish, Embryos, Larvae, Phenotypes, Kidneys, Swimming, Mental retardation, Brain development
出版物
PLoS Genetics
Volume 10, Issue 4, Pages e1004267
出版商
Public Library of Science (PLoS)
发表日期
2014-04-04
DOI
10.1371/journal.pgen.1004267
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Novel mechanisms that pattern and shape the midbrain-hindbrain boundary
- (2013) Sebastian Dworkin et al. CELLULAR AND MOLECULAR LIFE SCIENCES
- Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome
- (2013) F. Mahmood et al. Disease Models & Mechanisms
- Tissue-specific expression and in vivo regulation of zebrafish orthologues of mammalian genes related to symptomatic hypomagnesemia
- (2013) Francisco J. Arjona et al. PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
- Zebrafish as an animal model to study ion homeostasis
- (2013) Pung-Pung Hwang et al. PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
- Evaluation of Hypomagnesemia: Lessons From Disorders of Tubular Transport
- (2012) Henrik Dimke et al. AMERICAN JOURNAL OF KIDNEY DISEASES
- 2-Aminoethyl diphenyl borinate (2-APB) inhibits TRPM7 channels through an intracellular acidification mechanism
- (2012) Rikki Chokshi et al. Channels
- Membrane Topology and Intracellular Processing of Cyclin M2 (CNNM2)
- (2012) Jeroen H. F. de Baaij et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- De novo mutations in human genetic disease
- (2012) Joris A. Veltman et al. NATURE REVIEWS GENETICS
- CNNM2, Encoding a Basolateral Protein Required for Renal Mg2+ Handling, Is Mutated in Dominant Hypomagnesemia
- (2011) Marchel Stuiver et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Human gene SLC41A1 encodes for the Na+/Mg2+ exchanger
- (2011) Martin Kolisek et al. AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
- TRPM7 Is Required within Zebrafish Sensory Neurons for the Activation of Touch-Evoked Escape Behaviors
- (2011) S. E. Low et al. JOURNAL OF NEUROSCIENCE
- Genome-wide association study identifies five new schizophrenia loci
- (2011) NATURE GENETICS
- Variation in the mutation rate across mammalian genomes
- (2011) Alan Hodgkinson et al. NATURE REVIEWS GENETICS
- The channel kinase, TRPM7, is required for early embryonic development
- (2011) J. Jin et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- TRPM6 and TRPM7: A Mul-TRP-PLIK-Cation of Channel Functions
- (2010) Loren W. Runnels CURRENT PHARMACEUTICAL BIOTECHNOLOGY
- Genome-wide association study identifies eight loci associated with blood pressure
- (2009) Christopher Newton-Cheh et al. NATURE GENETICS
- A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations
- (2009) Friedhelm Hildebrandt et al. PLoS Genetics
- Controlling morpholino experiments: don't stop making antisense
- (2008) J. S. Eisen et al. DEVELOPMENT
- EGF Increases TRPM6 Activity and Surface Expression
- (2008) S. Thebault et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Calciotropic and Magnesiotropic TRP Channels
- (2008) Joost G. J. Hoenderop et al. PHYSIOLOGY
- TRPM7 facilitates cholinergic vesicle fusion with the plasma membrane
- (2008) S. Brauchi et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started