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Current updates on arrhythmia within Timothy syndrome: genetics, mechanisms and therapeutics.
Expert Rev Mol Med
May 2023
National Regional Children's Medical Centre (Northwest), Key Laboratory of Precision Medicine to Pediatric Diseases of Shaanxi Province, Xi'an Key Laboratory of Children's Health and Diseases, Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital, Affiliated Children's Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi 710003, China.
Timothy syndrome (TS), characterised by multiple system malfunction especially the prolonged corrected QT interval and synchronised appearance of hand/foot syndactyly, is an extremely rare disease affecting early life with devastating arrhythmia. In this work, firstly, the various mutations in causative gene encoding cardiac L-type voltage-gated calcium channel (LTCC), regard with the genetic pathogeny and nomenclature of TS are reviewed. Secondly, the expression profile and function of gene encoding Ca1.
View Article and Find Full Text PDFAn ion-channel-gene-based prediction model for head and neck squamous cell carcinoma: Prognostic assessment and treatment guidance.
Front Immunol
November 2022
Department of Gastroenterology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Purpose: Head and neck squamous cell carcinoma (HNSCC) is a very diverse malignancy with a poor prognosis. The purpose of this study was to develop a new signature based on 12 ion channel genes to predict the outcome and immune status of HNSCC patients.
Methods: Clinicopathological information and gene sequencing data of HNSCC patients were generated from the Cancer Genome Atlas and Gene Expression Omnibus databases.
Psychiatric Phenotypes of Pediatric Patients With Seropositive Autoimmune Encephalitis.
Hosp Pediatr
July 2021
School of Medicine, Duke University, Durham, North Carolina.
Objectives: Patients with autoimmune encephalitis (AE) often present with symptoms that are broadly characterized as psychiatric or behavioral, yet little attention is given to the precise symptomatology observed. We sought to more fully define the psychiatric symptoms observed in patients with anti-N-methyl-D-aspartate receptor (NMDAR), anti-glutamic-acid-decarboxylase 65 (GAD65), and anti-voltage-gated-potassium-channel complex (VGKC) antibody-mediated AE using the nomenclature.
Methods: We present a case series ( = 25) using a retrospective chart review of 225 patients evaluated for AE in a tertiary care academic medical center between 2014 and 2018.
Pre-Test Probability and Genes and Variants of Uncertain Significance in Familial Long QT Syndrome.
Heart Lung Circ
April 2020
Windland Smith Rice Sudden Death Genomics Laboratory, Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, MN, USA.
The genetics underlying familial long QT syndrome (LQTS) are among the best characterised of all of the inherited heart conditions. Cohort and registry studies have demonstrated important genotype-phenotype correlations that are now essential in guiding clinical practice of patients with the most common three genotypes; KCNQ1 (LQT type 1), KCNH2 (LQT type 2) and SCN5A (LQT type 3). However, the growing number of genes-now more than 16-is confusing, and there is much doubt as to whether many actually cause LQTS at all.
View Article and Find Full Text PDFTHE CONCISE GUIDE TO PHARMACOLOGY 2017/18: G protein-coupled receptors.
Br J Pharmacol
December 2017
Centre for Integrative Physiology, University of Edinburgh, Edinburgh, EH8 9XD, UK.
The Concise Guide to PHARMACOLOGY 2017/18 provides concise overviews of the key properties of nearly 1800 human drug targets with an emphasis on selective pharmacology (where available), plus links to an open access knowledgebase of drug targets and their ligands (www.guidetopharmacology.org), which provides more detailed views of target and ligand properties.
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