Mutation Screening of KCNQ1 and KCNE1 Genes in Iranian Patients With Jervell and Lange-Nielsen Syndrome-Reference-Cited by-同舟云学术

Mutation Screening of KCNQ1 and KCNE1 Genes in Iranian Patients With Jervell and Lange-Nielsen Syndrome

Published:2019-04-03 Issue:4 Volume:38 Page:273-281
ISSN:1551-3815
Container-title:Fetal and Pediatric Pathology
language:en
Short-container-title:Fetal and Pediatric Pathology

Author:

Vojdani Samaneh¹,Amirsalari Susan²,Milanizadeh Saman¹,Molaei Fatemeh¹,Ajalloueyane Mohammad²,Khosravi Arezoo²,Hamzehzadeh Leila¹,Ghasemi Mohammad Mehdi¹,Talee Mohammad Reza¹,Abbaszadegan Mohammad Reza³

Affiliation:

1. Mashhad University of Medical Sciences, Mashhad, Iran;

2. New Hearing Technologies Research Center, Baqiatallah University of Medical Sciences, Tehran, Iran;

3. Human Genetic Division, Immunology Research Center, Bu-Ali Research Institute, Mashhad University of Medical Sciences, Mashhad, Iran

Funder

Mashhad University of Medical Sciences

Publisher

Informa UK Limited

Subject

General Medicine,Pathology and Forensic Medicine,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/15513815.2019.1585500

Reference19 articles.

1. Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval, and sudden death

2. The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss

3. Deubiquitylating enzyme USP2 counteracts Nedd4-2–mediated downregulation of KCNQ1 potassium channels

4. Spectrum of Mutations in Long-QT Syndrome Genes

5. A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome

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