Phenotypic spectrum of the recurrent TRPM3 p.( Val837Met ) substitution in seven individuals with global developmental delay and hypotonia
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Title
Phenotypic spectrum of the recurrent
TRPM3
p.(
Val837Met
) substitution in seven individuals with global developmental delay and hypotonia
Authors
Keywords
-
Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2022-02-11
DOI
10.1002/ajmg.a.62673
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Note: Only part of the references are listed.- A Chinese patient with developmental and epileptic encephalopathies (DEE) carrying a TRPM3 gene mutation: a paediatric case report
- (2021) Qingyun Kang et al. BMC Pediatrics
- Description of a novel patient with the TRPM3 recurrent p.Val837Met variant
- (2021) Lucas W Gauthier et al. European Journal of Medical Genetics
- Defining the TRPM3 related spectrum: Possible ocular and joints defects, and inconstant epilepsy
- (2020) Jean-Madeleine de Sainte Agathe et al. European Journal of Medical Genetics
- Disease-associated mutations in the human TRPM3 render the channel overactive via two distinct mechanisms
- (2020) Siyuan Zhao et al. eLife
- Gain of channel function and modified gating properties in TRPM3 mutants causing intellectual disability and epilepsy
- (2020) Evelien Van Hoeymissen et al. eLife
- De novo substitutions of TRPM3 cause intellectual disability and epilepsy
- (2019) David A. Dyment et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- 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
- Gain-of-function mutations in TRPM4 activation gate cause progressive symmetric erythrokeratoderma
- (2018) Huijun Wang et al. JOURNAL OF INVESTIGATIVE DERMATOLOGY
- The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies
- (2017) Peter D. Stenson et al. HUMAN GENETICS
- Transient receptor potential TRPM3 channels: Pharmacology, signaling, and biological functions
- (2017) Gerald Thiel et al. PHARMACOLOGICAL RESEARCH
- GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene
- (2015) Nara Sobreira et al. HUMAN MUTATION
- Opening of an alternative ion permeation pathway in a nociceptor TRP channel
- (2014) Joris Vriens et al. Nature Chemical Biology
- TRPM channels: same ballpark, different players, and different rules in immunogenetics
- (2011) Ammad Ahmad Farooqi et al. IMMUNOGENETICS
- Mutations in TRPM1 Are a Common Cause of Complete Congenital Stationary Night Blindness
- (2009) Maria M. van Genderen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness
- (2009) Isabelle Audo et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar Cell Function and Cause Complete Congenital Stationary Night Blindness in Humans
- (2009) Zheng Li et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I
- (2009) Martin Kruse et al. JOURNAL OF CLINICAL INVESTIGATION
- Altered functional properties of a TRPM2 variant in Guamanian ALS and PD
- (2008) M. C. Hermosura et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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