Topics

Identification of a novel c.2633_2634del CT variant of the ADAR gene in a patient with dyschromatosis symmetrica hereditaria.

07:00 EST 10th November 2019 | BioPortfolio

Summary of "Identification of a novel c.2633_2634del CT variant of the ADAR gene in a patient with dyschromatosis symmetrica hereditaria."

To explore the genetic etiology of two unrelated patients with dyschromatosis symmetrica hereditaria.

Affiliation

Journal Details

This article was published in the following journal.

Name: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
ISSN: 1003-9406
Pages: 1097-1099

Links

DeepDyve research library

PubMed Articles [20570 Associated PubMed Articles listed on BioPortfolio]

Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a Pendred syndrome patient carrying SLC26A4 c.919-2A>G splice-site mutation.

SLC26A4 is the second most frequent gene implicated in congenital hearing loss after GJB2 mutations. Here, we report the generation of induced pluripotent stem cells (iPSCs), from a patient who was ca...

Novel BRCA2 pathogenic genotype and breast cancer phenotype discordance in monozygotic triplets.

BRCA1/2 genes with high-penetrance are tumor suppressor and tumor susceptibility genes that play important roles in the homologous recombination mechanism in DNA repair and increase breast cancer risk...

A novel mutation in a common pathogenic gene () associated with intellectual disability: A case report.

Intellectual disability (ID) is a non-specific phenotype present in a genetically heterogeneous group of disorders. The genetic cause of ID remains elusive in the majority of patients due to this extr...

Disruption in A-to-I Editing Levels Affects C. elegans Development More Than a Complete Lack of Editing.

A-to-I RNA editing, catalyzed by ADAR proteins, is widespread in eukaryotic transcriptomes. Studies showed that, in C. elegans, ADR-2 can actively deaminate dsRNA, whereas ADR-1 cannot. Therefore, we...

Promises and pitfalls of whole-exome sequencing exemplified by a nephrotic syndrome family.

High-throughput techniques such as whole-exome sequencing (WES) show promise for the identification of candidate genes that underlie Mendelian diseases such as nephrotic syndrome (NS). These technique...

Clinical Trials [6424 Associated Clinical Trials listed on BioPortfolio]

Vancomycin Associated Red Man Syndrome (RMS)

This study proposes to identify patients who developed RMS with vancomycin infusion, and determine presence or absence of variant alleles involved in histamine biotransformation. The impli...

Prospective Cohort Study of Variant Carriers With BRCA1 or BRCA2

To determine the incidence and risk factors in the development of ovarian, fallopian tube, and peritoneal cancers in Japanese women carrying Breast Cancer Susceptibility Gene (BRCA)1/2 var...

Gene Expression Profile and Inflammation Profile of Classic Asthma, Cough Variant Asthma and Eosinophilic Bronchitis

This study aims to identify and validate the gene expression differentials of peripheral blood mononuclear cells and differential inflammation profiles and other aspects in classic asthma,...

Non-Interventional Study of Cough Variant Asthma Treatment With Pulmicort®Respules® in Children Outpatients

This open label, non-interventional study is to show the efficacy of Pulmicort®Respules® in cough variant asthma in patient aged 5-year old or younger in outpatient department

Identification of Time-invariant EEG Signals for Brain-Computer Interface

This study aims to identify various time-variant and time-invariant components of EEG signals using advanced signal processing techniques, such as machine learning. Our ultimate goal is to...

Medical and Biotech [MESH] Definitions

Organized procedures for establishing patient identity, including use of bracelets, etc.

Machine readable patient or equipment identification device using radio frequency from 125 kHz to 5.8 Ghz.

Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.

The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.

The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.

Quick Search


DeepDyve research library

Relevant Topic

Bioinformatics
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...


Searches Linking to this Article