标题
De novo substitutions of TRPM3 cause intellectual disability and epilepsy
作者
关键词
-
出版物
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume -, Issue -, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2019-07-05
DOI
10.1038/s41431-019-0462-x
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。- Mutations in the voltage-sensing domain affect the alternative ion permeation pathway in the TRPM3 channel
- (2018) Katharina Held et al. JOURNAL OF PHYSIOLOGY-LONDON
- A TRP channel trio mediates acute noxious heat sensing
- (2018) Ine Vandewauw et al. NATURE
- Structure of the mammalian TRPM7, a magnesium channel required during embryonic development
- (2018) Jingjing Duan et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Genomic diagnosis for children with intellectual disability and/or developmental delay
- (2017) Kevin M. Bowling et al. Genome Medicine
- High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing
- (2016) Francisco Martínez et al. JOURNAL OF MEDICAL GENETICS
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene
- (2015) Nara Sobreira et al. HUMAN MUTATION
- Regulation of the transient receptor potential channel TRPM3 by phosphoinositides
- (2015) Balázs I. Tóth et al. JOURNAL OF GENERAL PHYSIOLOGY
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- Mutation of the Melastatin-Related Cation Channel, TRPM3, Underlies Inherited Cataract and Glaucoma
- (2014) Thomas M. Bennett et al. PLoS One
- The Database of Genomic Variants: a curated collection of structural variation in the human genome
- (2013) Jeffrey R. MacDonald et al. NUCLEIC ACIDS RESEARCH
- A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3
- (2011) Alistair T. Pagnamenta et al. Journal of Neurodevelopmental Disorders
- TRPM3 Is a Nociceptor Channel Involved in the Detection of Noxious Heat
- (2011) Joris Vriens et al. NEURON
- Phosphatidylinositol 4,5-bisphosphate (PIP2) controls magnesium gatekeeper TRPM6 activity
- (2011) Jia Xie et al. Scientific Reports
- TRPM3 is expressed in sphingosine-responsive myelinating oligodendrocytes
- (2010) Anja Hoffmann et al. JOURNAL OF NEUROCHEMISTRY
- Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome
- (2009) Hideo Kuniba et al. JOURNAL OF HUMAN GENETICS
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now