Kir 2.1 channelopathies: the Andersen–Tawil syndrome
As a multisystem disorder, Andersen–Tawil syndrome (ATS) is rather unique in the family of channelopathies. The full spectrum of the disease is characterized by ventricular arrhythmias, dysmorphic features, and periodic paralysis. Most ATS patients have a mutation in the ion channel gene, KCNJ2 , wh...
Gespeichert in:
| Veröffentlicht in: | Pflügers Archiv 2010-07, Vol.460 (2), p.289-294 |
|---|---|
| Hauptverfasser: | , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 294 |
|---|---|
| container_issue | 2 |
| container_start_page | 289 |
| container_title | Pflügers Archiv |
| container_volume | 460 |
| creator | Tristani-Firouzi, Martin Etheridge, Susan P. |
| description | As a multisystem disorder, Andersen–Tawil syndrome (ATS) is rather unique in the family of channelopathies. The full spectrum of the disease is characterized by ventricular arrhythmias, dysmorphic features, and periodic paralysis. Most ATS patients have a mutation in the ion channel gene,
KCNJ2
, which encodes the inward rectifier K
+
channel Kir2.1, a component of the inward rectifier
I
K1
.
I
K1
provides repolarizing current during the most terminal phase of repolarization and is the primary conductance controlling the diastolic membrane potential. Thus, ATS is a disorder of cardiac repolarization. The chapter will discuss the most recent data concerning the genetic, cellular, and clinical data underlying this unique disorder. |
| doi_str_mv | 10.1007/s00424-010-0820-6 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_753641979</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2186848971</sourcerecordid><originalsourceid>FETCH-LOGICAL-c468t-ac031117cebf08f210bc739447cdea2bf95c3ab3970f8f4603c5658b450cb963</originalsourceid><addsrcrecordid>eNqFkEtOwzAQhi0EoqVwADYoYsPKZfyIHbOrKl4CiU33luM4NFUexU6EuuMO3JCTkCoFJCTEahbzzT8zH0KnBKYEQF4GAE45BgIYEgpY7KEx4YxiCoTtozEAI1hIkYzQUQgrAKA8oYdoRIGBoJKMkXgofESnJLJLU9eubNamXRYuXEXt0kWzOnM-uPrj7X1hXosyCps6803ljtFBbsrgTnZ1ghY314v5HX58ur2fzx6x5SJpsbH9BYRI69IckpwSSK1kinNpM2domqvYMpMyJSFPci6A2VjEScpjsKkSbIIuhti1b146F1pdFcG6sjS1a7qgZcwEJ0qq_0nGqFKcxT15_otcNZ2v-y-0FIwrppjsITJA1jcheJfrtS8q4zeagN6614N73bvXW_d6e-zZLrhLK5d9T3zJ7gE6AKFv1c_O_2z-O_UTu_2MwQ</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>763493937</pqid></control><display><type>article</type><title>Kir 2.1 channelopathies: the Andersen–Tawil syndrome</title><source>MEDLINE</source><source>SpringerNature Journals</source><creator>Tristani-Firouzi, Martin ; Etheridge, Susan P.</creator><creatorcontrib>Tristani-Firouzi, Martin ; Etheridge, Susan P.</creatorcontrib><description>As a multisystem disorder, Andersen–Tawil syndrome (ATS) is rather unique in the family of channelopathies. The full spectrum of the disease is characterized by ventricular arrhythmias, dysmorphic features, and periodic paralysis. Most ATS patients have a mutation in the ion channel gene,
KCNJ2
, which encodes the inward rectifier K
+
channel Kir2.1, a component of the inward rectifier
I
K1
.
I
K1
provides repolarizing current during the most terminal phase of repolarization and is the primary conductance controlling the diastolic membrane potential. Thus, ATS is a disorder of cardiac repolarization. The chapter will discuss the most recent data concerning the genetic, cellular, and clinical data underlying this unique disorder.</description><identifier>ISSN: 0031-6768</identifier><identifier>EISSN: 1432-2013</identifier><identifier>DOI: 10.1007/s00424-010-0820-6</identifier><identifier>PMID: 20306271</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer-Verlag</publisher><subject>Andersen Syndrome - diagnosis ; Andersen Syndrome - drug therapy ; Andersen Syndrome - genetics ; Andersen Syndrome - physiopathology ; ATS ; Biomedical and Life Sciences ; Biomedicine ; Cell Biology ; Channelopathies - genetics ; Channels ; Disorders ; Genetics ; Human Physiology ; Humans ; Invited Review ; Ion channels ; Molecular Medicine ; Mutation ; Neurosciences ; Paralysis ; Potassium Channels, Inwardly Rectifying - genetics ; Receptors ; Rectifiers ; Terminals</subject><ispartof>Pflügers Archiv, 2010-07, Vol.460 (2), p.289-294</ispartof><rights>Springer-Verlag 2010</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c468t-ac031117cebf08f210bc739447cdea2bf95c3ab3970f8f4603c5658b450cb963</citedby><cites>FETCH-LOGICAL-c468t-ac031117cebf08f210bc739447cdea2bf95c3ab3970f8f4603c5658b450cb963</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s00424-010-0820-6$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00424-010-0820-6$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>315,781,785,27929,27930,41493,42562,51324</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/20306271$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Tristani-Firouzi, Martin</creatorcontrib><creatorcontrib>Etheridge, Susan P.</creatorcontrib><title>Kir 2.1 channelopathies: the Andersen–Tawil syndrome</title><title>Pflügers Archiv</title><addtitle>Pflugers Arch - Eur J Physiol</addtitle><addtitle>Pflugers Arch</addtitle><description>As a multisystem disorder, Andersen–Tawil syndrome (ATS) is rather unique in the family of channelopathies. The full spectrum of the disease is characterized by ventricular arrhythmias, dysmorphic features, and periodic paralysis. Most ATS patients have a mutation in the ion channel gene,
KCNJ2
, which encodes the inward rectifier K
+
channel Kir2.1, a component of the inward rectifier
I
K1
.
I
K1
provides repolarizing current during the most terminal phase of repolarization and is the primary conductance controlling the diastolic membrane potential. Thus, ATS is a disorder of cardiac repolarization. The chapter will discuss the most recent data concerning the genetic, cellular, and clinical data underlying this unique disorder.</description><subject>Andersen Syndrome - diagnosis</subject><subject>Andersen Syndrome - drug therapy</subject><subject>Andersen Syndrome - genetics</subject><subject>Andersen Syndrome - physiopathology</subject><subject>ATS</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cell Biology</subject><subject>Channelopathies - genetics</subject><subject>Channels</subject><subject>Disorders</subject><subject>Genetics</subject><subject>Human Physiology</subject><subject>Humans</subject><subject>Invited Review</subject><subject>Ion channels</subject><subject>Molecular Medicine</subject><subject>Mutation</subject><subject>Neurosciences</subject><subject>Paralysis</subject><subject>Potassium Channels, Inwardly Rectifying - genetics</subject><subject>Receptors</subject><subject>Rectifiers</subject><subject>Terminals</subject><issn>0031-6768</issn><issn>1432-2013</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2010</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqFkEtOwzAQhi0EoqVwADYoYsPKZfyIHbOrKl4CiU33luM4NFUexU6EuuMO3JCTkCoFJCTEahbzzT8zH0KnBKYEQF4GAE45BgIYEgpY7KEx4YxiCoTtozEAI1hIkYzQUQgrAKA8oYdoRIGBoJKMkXgofESnJLJLU9eubNamXRYuXEXt0kWzOnM-uPrj7X1hXosyCps6803ljtFBbsrgTnZ1ghY314v5HX58ur2fzx6x5SJpsbH9BYRI69IckpwSSK1kinNpM2domqvYMpMyJSFPci6A2VjEScpjsKkSbIIuhti1b146F1pdFcG6sjS1a7qgZcwEJ0qq_0nGqFKcxT15_otcNZ2v-y-0FIwrppjsITJA1jcheJfrtS8q4zeagN6614N73bvXW_d6e-zZLrhLK5d9T3zJ7gE6AKFv1c_O_2z-O_UTu_2MwQ</recordid><startdate>20100701</startdate><enddate>20100701</enddate><creator>Tristani-Firouzi, Martin</creator><creator>Etheridge, Susan P.</creator><general>Springer-Verlag</general><general>Springer Nature B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7QP</scope><scope>7TK</scope><scope>7TS</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>7X8</scope><scope>7TB</scope><scope>7U5</scope><scope>8FD</scope><scope>FR3</scope><scope>L7M</scope></search><sort><creationdate>20100701</creationdate><title>Kir 2.1 channelopathies: the Andersen–Tawil syndrome</title><author>Tristani-Firouzi, Martin ; Etheridge, Susan P.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c468t-ac031117cebf08f210bc739447cdea2bf95c3ab3970f8f4603c5658b450cb963</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2010</creationdate><topic>Andersen Syndrome - diagnosis</topic><topic>Andersen Syndrome - drug therapy</topic><topic>Andersen Syndrome - genetics</topic><topic>Andersen Syndrome - physiopathology</topic><topic>ATS</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Cell Biology</topic><topic>Channelopathies - genetics</topic><topic>Channels</topic><topic>Disorders</topic><topic>Genetics</topic><topic>Human Physiology</topic><topic>Humans</topic><topic>Invited Review</topic><topic>Ion channels</topic><topic>Molecular Medicine</topic><topic>Mutation</topic><topic>Neurosciences</topic><topic>Paralysis</topic><topic>Potassium Channels, Inwardly Rectifying - genetics</topic><topic>Receptors</topic><topic>Rectifiers</topic><topic>Terminals</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Tristani-Firouzi, Martin</creatorcontrib><creatorcontrib>Etheridge, Susan P.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Physical Education Index</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>MEDLINE - Academic</collection><collection>Mechanical & Transportation Engineering Abstracts</collection><collection>Solid State and Superconductivity Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Advanced Technologies Database with Aerospace</collection><jtitle>Pflügers Archiv</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Tristani-Firouzi, Martin</au><au>Etheridge, Susan P.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Kir 2.1 channelopathies: the Andersen–Tawil syndrome</atitle><jtitle>Pflügers Archiv</jtitle><stitle>Pflugers Arch - Eur J Physiol</stitle><addtitle>Pflugers Arch</addtitle><date>2010-07-01</date><risdate>2010</risdate><volume>460</volume><issue>2</issue><spage>289</spage><epage>294</epage><pages>289-294</pages><issn>0031-6768</issn><eissn>1432-2013</eissn><abstract>As a multisystem disorder, Andersen–Tawil syndrome (ATS) is rather unique in the family of channelopathies. The full spectrum of the disease is characterized by ventricular arrhythmias, dysmorphic features, and periodic paralysis. Most ATS patients have a mutation in the ion channel gene,
KCNJ2
, which encodes the inward rectifier K
+
channel Kir2.1, a component of the inward rectifier
I
K1
.
I
K1
provides repolarizing current during the most terminal phase of repolarization and is the primary conductance controlling the diastolic membrane potential. Thus, ATS is a disorder of cardiac repolarization. The chapter will discuss the most recent data concerning the genetic, cellular, and clinical data underlying this unique disorder.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer-Verlag</pub><pmid>20306271</pmid><doi>10.1007/s00424-010-0820-6</doi><tpages>6</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0031-6768 |
| ispartof | Pflügers Archiv, 2010-07, Vol.460 (2), p.289-294 |
| issn | 0031-6768 1432-2013 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_753641979 |
| source | MEDLINE; SpringerNature Journals |
| subjects | Andersen Syndrome - diagnosis Andersen Syndrome - drug therapy Andersen Syndrome - genetics Andersen Syndrome - physiopathology ATS Biomedical and Life Sciences Biomedicine Cell Biology Channelopathies - genetics Channels Disorders Genetics Human Physiology Humans Invited Review Ion channels Molecular Medicine Mutation Neurosciences Paralysis Potassium Channels, Inwardly Rectifying - genetics Receptors Rectifiers Terminals |
| title | Kir 2.1 channelopathies: the Andersen–Tawil syndrome |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-16T09%3A55%3A26IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Kir%202.1%20channelopathies:%20the%20Andersen%E2%80%93Tawil%20syndrome&rft.jtitle=Pfl%C3%BCgers%20Archiv&rft.au=Tristani-Firouzi,%20Martin&rft.date=2010-07-01&rft.volume=460&rft.issue=2&rft.spage=289&rft.epage=294&rft.pages=289-294&rft.issn=0031-6768&rft.eissn=1432-2013&rft_id=info:doi/10.1007/s00424-010-0820-6&rft_dat=%3Cproquest_cross%3E2186848971%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=763493937&rft_id=info:pmid/20306271&rfr_iscdi=true |