LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 3 of total 3

Search options

  1. Article ; Online: Multiple genetic variations in sodium channel subunits in a case of sudden infant death syndrome.

    Denti, Federico / Bentzen, Bo Hjorth / Wojciak, Julianne / Thomsen, Nancy Mutsaers / Scheinman, Melvin / Schmitt, Nicole

    Pacing and clinical electrophysiology : PACE

    2018  Volume 41, Issue 6, Page(s) 620–626

    Abstract: Background: Dysfunction of Na: Methods: The family was referred for cardiovascular genetic evaluation to assess familial risk of cardiac disease. Functional analysis of the identified variants was performed with patch-clamp electrophysiology in ... ...

    Abstract Background: Dysfunction of Na
    Methods: The family was referred for cardiovascular genetic evaluation to assess familial risk of cardiac disease. Functional analysis of the identified variants was performed with patch-clamp electrophysiology in HEK293 cells.
    Results: A 16-month-old healthy boy died suddenly in the context of nonspecific illness and possible fever. Postmortem genetic testing revealed variants in the SCN5A and SCN1Bb genes. The proband's father carries the same variants but is asymptomatic. Electrophysiological analysis of the Na
    Conclusions: Genetic variation of both sodium channel and its modifiers may contribute to sudden unexplained death in childhood. However, the asymptomatic father suggests that genetic variation of these genes is not sufficient to cause sudden death or clinically detectable SCN5A phenotypes.
    MeSH term(s) Genetic Variation ; Humans ; Infant ; Male ; NAV1.5 Voltage-Gated Sodium Channel/genetics ; Pedigree ; Sudden Infant Death/genetics ; Voltage-Gated Sodium Channel beta-1 Subunit/genetics
    Chemical Substances NAV1.5 Voltage-Gated Sodium Channel ; SCN1B protein, human ; SCN5A protein, human ; Voltage-Gated Sodium Channel beta-1 Subunit
    Language English
    Publishing date 2018-04-25
    Publishing country United States
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 424437-0
    ISSN 1540-8159 ; 0147-8389
    ISSN (online) 1540-8159
    ISSN 0147-8389
    DOI 10.1111/pace.13328
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 1466: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)
    Zs.MO 399: Show issues

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  2. Article ; Online: A Novel Loss-of-Function Variant in the Chloride Ion Channel Gene Clcn2 Associates with Atrial Fibrillation

    Thea Hyttel Hansen / Yannan Yan / Gustav Ahlberg / Oliver Bundgaard Vad / Lena Refsgaard / Joana Larupa dos Santos / Nancy Mutsaers / Jesper Hastrup Svendsen / Morten Salling Olesen / Bo Hjorth Bentzen / Nicole Schmitt

    Scientific Reports, Vol 10, Iss 1, Pp 1-

    2020  Volume 10

    Abstract: Abstract Atrial Fibrillation (AF) is the most common cardiac arrhythmia. Its pathogenesis is complex and poorly understood. Whole exome sequencing of Danish families with AF revealed a novel four nucleotide deletion c.1041_1044del in CLCN2 shared by ... ...

    Abstract Abstract Atrial Fibrillation (AF) is the most common cardiac arrhythmia. Its pathogenesis is complex and poorly understood. Whole exome sequencing of Danish families with AF revealed a novel four nucleotide deletion c.1041_1044del in CLCN2 shared by affected individuals. We aimed to investigate the role of genetic variation of CLCN2 encoding the inwardly rectifying chloride channel ClC-2 as a risk factor for the development of familiar AF. The effect of the CLCN2 variant was evaluated by electrophysiological recordings on transiently transfected cells. We used quantitative PCR to assess CLCN2 mRNA expression levels in human atrial and ventricular tissue samples. The nucleotide deletion CLCN2 c.1041_1044del results in a frame-shift and premature stop codon. The truncated ClC-2 p.V347fs channel does not conduct current. Co-expression with wild-type ClC-2, imitating the heterozygote state of the patients, resulted in a 50% reduction in macroscopic current, suggesting an inability of truncated ClC-2 protein to form channel complexes with wild type channel subunits. Quantitative PCR experiments using human heart tissue from healthy donors demonstrated that CLCN2 is expressed across all four heart chambers. Our genetic and functional data points to a possible link between loss of ClC-2 function and an increased risk of developing AF.
    Keywords Medicine ; R ; Science ; Q
    Subject code 572
    Language English
    Publishing date 2020-01-01T00:00:00Z
    Publisher Nature Publishing Group
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  3. Article ; Online: Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome.

    Calloe, Kirstine / Refaat, Marwan M / Grubb, Soren / Wojciak, Julianne / Campagna, Joan / Thomsen, Nancy Mutsaers / Nussbaum, Robert L / Scheinman, Melvin M / Schmitt, Nicole

    Circulation. Arrhythmia and electrophysiology

    2013  Volume 6, Issue 1, Page(s) 177–184

    Abstract: Background: Brugada syndrome is a heterogeneous heart rhythm disorder characterized by an atypical right bundle block pattern with ST-segment elevation and T-wave inversion in the right precordial leads. Loss-of-function mutations in SCN5A encoding the ... ...

    Abstract Background: Brugada syndrome is a heterogeneous heart rhythm disorder characterized by an atypical right bundle block pattern with ST-segment elevation and T-wave inversion in the right precordial leads. Loss-of-function mutations in SCN5A encoding the cardiac sodium channel Na(V)1.5 are associated with Brugada syndrome. We found novel mutations in SCN5A in 2 different families diagnosed with Brugada syndrome and investigated how those affected Na(V)1.5 channel function.
    Methods and results: We performed genetic testing of the probands' genomic DNA. After site-directed mutagenesis and transfection, whole-cell currents were recorded for Na(V)1.5 wild type and mutants heterologously expressed in Chinese hamster ovary-K1 cells. Proband 1 had two novel Na(V)1.5 mutations: Na(V)1.5-R811H and Na(V)1.5-R620H. The Na(V)1.5-R811H mutation showed a significant loss of function in peak Na(+) current density and alteration of biophysical kinetic parameters (inactivation and recovery from inactivation), whereas Na(V)1.5-R620H had no significant effect on the current. Proband 2 had a novel Na(V)1.5-S1218I mutation. Na(V)1.5-S1218I had complete loss of function, and 1:1 expression of Na(V)1.5-wild type and Na(V)1.5-S1218I mimicking the heterozygous state revealed a 50% reduction in current compared with wild type, suggesting a functional haploinsufficiency in the patient.
    Conclusions: Na(V)1.5-S1218I and R811H are novel loss-of-function mutations in the SCN5A gene causing Brugada syndrome.
    MeSH term(s) Action Potentials ; Adult ; Animals ; Brugada Syndrome/diagnosis ; Brugada Syndrome/genetics ; Brugada Syndrome/metabolism ; CHO Cells ; Cricetinae ; Cricetulus ; DNA Mutational Analysis ; Electrocardiography ; Female ; Genetic Predisposition to Disease ; Haploinsufficiency ; Heterozygote ; Humans ; Kinetics ; Male ; Mutagenesis, Site-Directed ; Mutation ; NAV1.5 Voltage-Gated Sodium Channel/genetics ; NAV1.5 Voltage-Gated Sodium Channel/metabolism ; Pedigree ; Transfection
    Chemical Substances NAV1.5 Voltage-Gated Sodium Channel ; SCN5A protein, human
    Language English
    Publishing date 2013-02
    Publishing country United States
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2426129-4
    ISSN 1941-3084 ; 1941-3149
    ISSN (online) 1941-3084
    ISSN 1941-3149
    DOI 10.1161/CIRCEP.112.974220
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 6667: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

To top