Výsledky vyhledávání - "Shawn M. Crump"

The focal adhesion protein Testin modulates KCNE2 potassium channel β subunit activity

Autor: Maria Papanikolaou, Shawn M. Crump, Geoffrey W. Abbott

Publikováno v: Channels (Austin, Tex.), vol 15, iss 1
Channels
article-version (VoR) Version of Record

Coronary Artery Disease (CAD) typically kills more people globally each year than any other single cause of death. A better understanding of genetic predisposition to CAD and the underlying mechanisms will help to identify those most at risk and cont

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d35506a43ce90da9d3e9dd1bb18b7f55
https://escholarship.org/uc/item/8n02n9t3

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KCNQ1 rescues TMC1 plasma membrane expression but not mechanosensitive channel activity

Autor: Maria Papanikolaou, Vikram A. Kanda, Geoffrey W. Abbott, William T. Harkcom, Shawn M. Crump

Publikováno v: J Cell Physiol

Transmembrane channel-like protein isoform 1 (TMC1) is essential for the generation of mechano-electrical transducer currents in hair cells of the inner ear. TMC1 disruption causes hair cell degeneration and deafness in mice and humans. Although thou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3adc4a6b12fc091948619a9671cf9527
https://doi.org/10.1002/jcp.28013

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Akademický článek

Arrhythmogenic KCNE gene variants: current knowledge and future challenges

Autor: Shawn M Crump, Geoffrey Winston Abbott

Publikováno v: Frontiers in Genetics, Vol 5 (2014)

There are twenty-five known inherited cardiac arrhythmia susceptibility genes, all of which encode either ion channel pore-forming subunits or proteins that regulate aspects of ion channel biology such as function, trafficking and localization. The h

Externí odkaz: https://doaj.org/article/2c58cf0216fe4104982d642615749da0

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Deletion in mice of X‐linked, Brugada syndrome–and atrial fibrillation–associated Kcne5 augments ventricular K v currents and predisposes to ventricular arrhythmia

Autor: Geoffrey W. Abbott, Jens-Peter David, Torsten K. Roepke, Nicola Wilck, Janine Lossie, Thomas A. Jepps, Shawn M. Crump, Elke Bocksteins, Nicole Schmitt, Ulrike Lisewski

Publikováno v: The FASEB journal

KCNE5 is an X-linked gene encoding KCNE5, an ancillary subunit to voltage-gated potassium (K-V) channels. Human KCNE5 mutations are associated with atrial fibrillation (AF)- and Brugada syndrome (BrS)-induced cardiac arrhythmias that can arise from i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::120b0f249a0e03daea226735e2780269
https://doi.org/10.1096/fj.201800502r

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TRIOBP-5 sculpts stereocilia rootlets and stiffens supporting cells enabling hearing

Publikováno v: JCI insight. 4(12)

TRIOBP remodels the cytoskeleton by forming unusually dense F-actin bundles and is implicated in human cancer, schizophrenia, and deafness. Mutations ablating human and mouse TRIOBP-4 and TRIOBP-5 isoforms are associated with profound deafness, as in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3588d2d7a94ab41b4095764290aa277
https://pubmed.ncbi.nlm.nih.gov/31217345

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Kcne2deletion attenuates acute post-ischaemia/reperfusion myocardial infarction

Autor: Geoffrey W. Abbott, Ping Zhang, Shawn M. Crump, Zhaoyang Hu

Publikováno v: Cardiovascular Research. 110:227-237

Aims Most cardiac arrhythmia-associated genes encode ion channel subunits and regulatory proteins that are also expressed outside the heart, suggesting diseases linked to their disruption may be multifactorial. KCNE2 is a ubiquitously expressed potas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d234838cbeab1a3497c33380cd8ba8e
https://doi.org/10.1093/cvr/cvw048

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Deletion in mice of X-linked, Brugada syndrome- and atrial fibrillation-associated Kcne5 augments ventricular K

Autor: Jens-Peter, David, Ulrike, Lisewski, Shawn M, Crump, Thomas A, Jepps, Elke, Bocksteins, Nicola, Wilck, Janine, Lossie, Torsten K, Roepke, Nicole, Schmitt, Geoffrey W, Abbott

Publikováno v: FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 33(2)

KCNE5 is an X-linked gene encoding KCNE5, an ancillary subunit to voltage-gated potassium (K(V)) channels. Human KCNE5 mutations are associated with atrial fibrillation (AF)– and Brugada syndrome (BrS)–induced cardiac arrhythmias that can arise f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1bac45a0b1d46b17f4b03f3c0b2a641d
https://pubmed.ncbi.nlm.nih.gov/30289750

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Targeted deletion of Kcne3 impairs skeletal muscle function in mice

Autor: Geoffrey W. Abbott, Noah Weisleder, Xiaoli Zhao, Zhaoyang Hu, Vishal P. Patel, Marie Anand, Elizabeth C. King, Shawn M. Crump

Publikováno v: King, EC; Patel, V; Anand, M; Zhao, X; Crump, SM; Hu, Z; et al.(2017). Targeted deletion of Kcne3 impairs skeletal muscle function in mice. FASEB JOURNAL, 31(7), 2937-2947. doi: 10.1096/fj.201600965RR. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/32n8d394

KCNE3 (MiRP2) forms heteromeric voltage-gated K+ channels with the skeletal muscle-expressed KCNC4 (Kv3.4) α subunit. KCNE3 was the first reported skeletal muscle K+ channel disease gene, but the requirement for KCNE3 in skeletal muscle has been que

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::115511610fe6fbab6d7a939148e2f9de
http://www.escholarship.org/uc/item/32n8d394

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Kcne3 deletion initiates extracardiac arrhythmogenesis in mice

Autor: Ritu Kant, Zhaoyang Hu, Shawn M. Crump, Geoffrey W. Abbott, Marie Anand, Roberto Levi

Publikováno v: Hu, Z; Crump, SM; Anand, M; Kant, R; Levi, R; & Abbott, GW. (2014). Kcne3 deletion initiates extracardiac arrhythmogenesis in mice. FASEB Journal, 28(2), 935-945. doi: 10.1096/fj.13-241828. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/06f921zh

Mutations in the human KCNE3 potassium channel ancillary subunit gene are associated with life-threatening ventricular arrhythmias. Most genes underlying inherited cardiac arrhythmias, including KCNE3, are not exclusively expressed in the heart, sugg

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54a3889c6eabba340140eba4812a4929
https://doi.org/10.1096/fj.13-241828

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The cardiac L-type calcium channel distal carboxy terminus autoinhibition is regulated by calcium

Autor: Shawn M. Crump, Douglas A. Andres, Jonathan Satin, Gail Sievert

Publikováno v: American Journal of Physiology-Heart and Circulatory Physiology. 304:H455-H464

The L-type calcium channel (LTCC) provides trigger Ca2+for sarcoplasmic reticulum Ca-release, and LTCC function is influenced by interacting proteins including the LTCC distal COOH terminus (DCT) and calmodulin. DCT is proteolytically cleaved and rea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99b6c74b05e4c81ebb7ad269ccabc060
https://doi.org/10.1152/ajpheart.00396.2012

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