miR-29 is an important driver of aging-related phenotypes

Autor: Vijay Swahari, Ayumi Nakamura, Emilie Hollville, Yu-Han Hung, Matt Kanke, C. Lisa Kurtz, Xurde M. Caravia, David Roiz-Valle, Shenghui He, Janakiraman Krishnamurthy, Sahil Kapoor, Varun Prasad, Cornelius Flowers, Matt Beck, Jeanette Baran-Gale, Norman Sharpless, Carlos López-Otín, Praveen Sethupathy, Mohanish Deshmukh

Publikováno v: Communications Biology, Vol 7, Iss 1, Pp 1-11 (2024)

Abstract Aging is a consequence of complex molecular changes, but whether a single microRNA (miRNA) can drive aging remains unclear. A miRNA known to be upregulated during both normal and premature aging is miR-29. We find miR-29 to also be among the

Externí odkaz: https://doaj.org/article/d2e2c9171b5d43a3bb38718b4bf3ccda

Hepatocyte ABCA1 Deletion Impairs Liver Insulin Signaling and Lipogenesis

Autor: Chia-Chi C. Key, Mingxia Liu, C. Lisa Kurtz, Soonkyu Chung, Elena Boudyguina, Timothy A. Dinh, Alexander Bashore, Peter E. Phelan, Barry I. Freedman, Timothy F. Osborne, Xuewei Zhu, Lijun Ma, Praveen Sethupathy, Sudha B. Biddinger, John S. Parks

Publikováno v: Cell Reports, Vol 19, Iss 10, Pp 2116-2129 (2017)

Plasma membrane (PM) free cholesterol (FC) is emerging as an important modulator of signal transduction. Here, we show that hepatocyte-specific knockout (HSKO) of the cellular FC exporter, ATP-binding cassette transporter A1 (ABCA1), leads to decreas

Externí odkaz: https://doaj.org/article/5676aae78ca64e57b7a41554cbc1eddd

miR-29 is an important driver of aging-related phenotypes

Autor: Vijay Swahari, Ayumi Nakamura, Emilie Hollville, Yu-Han Hung, Matt Kanke, C. Lisa Kurtz, Xurde M. Caravia, Shenghui He, Janakiraman Krishnamurthy, Sahil Kapoor, Varun Prasad, Cornelius Flowers, Matt Beck, Jeanette Baran-Gale, Norman Sharpless, Carlos López-Otín, Praveen Sethupathy, Mohanish Deshmukh

Aging is a consequence of complex molecular changes, but the roles of individual microRNAs (miRNAs) in aging remain unclear. One of the few miRNAs that are upregulated during both normal and premature aging is miR-29. We confirmed this finding in our

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::33a994edc9ccecdf3c3cbf15a39b5bbb
https://doi.org/10.1101/2022.11.29.518429

International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework

Autor: Cynthia A. James, Ray E. Hershberger, Kalliopi Pilichou, Ana Morales, Jan D. H. Jongbloed, Argelia Medeiros Domingo, Jennifer McGlaughon, Alexandros Protonotarios, Courtney Thaxton, Elizabeth Jordan, Emily Brown, Ronald H. Lekanne Deprez, C. Lisa Kurtz, Brittney Murray, Petros Syrris, Babken Asatryan, Daniel P. Judge, J. Peter van Tintelen, Julia Cadrin-Tourigny, Rudy Celeghin

Publikováno v: James, Cynthia A; Jongbloed, Jan D H; Hershberger, Ray E; Morales, Ana; Judge, Daniel P; Syrris, Petros; Pilichou, Kalliopi; Domingo, Argelia Medeiros; Murray, Brittney; Cadrin-Tourigny, Julia; Lekanne Deprez, Ronald; Celeghin, Rudy; Protonotarios, Alexandros; Asatryan, Babken; Brown, Emily; Jordan, Elizabeth; McGlaughon, Jennifer; Thaxton, Courtney; Kurtz, C Lisa and van Tintelen, J Peter (2021). International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework. Circulation. Genomic and precision medicine, 14(3), e003273. American Heart Association 10.1161/CIRCGEN.120.003273
Circulation. Genomic and Precision Medicine
Circulation-Genomic and precision medicine, 14(3), 273-284. LIPPINCOTT WILLIAMS & WILKINS
Circulation: Genomic and Precision Medicine, 14(3):e003273, 273-284. Lippincott Williams and Wilkins Ltd.

Supplemental Digital Content is available in the text.
Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disease characterized by ventricular arrhythmias and progressive ventricular dysfunction. Genetic testing i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcf751d875add3ffb4035b93f61861a4
https://doi.org/10.1161/circgen.120.003273

The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification

Autor: Joana Rita Chora, Margaret Chen, Lukáš Tichý, Sarah Leigh, Tomáš Freiberger, Michael A. Iacocca, Michal Kramarek, Robert A. Hegele, Hannah Wand, Cinthia E. Jannes, Liam R. Brunham, Heather Zimmermann, ClinGen Familial Hypercholesterolemia Expert Panel, Tami Johnston, Eric J.G. Sijbrands, Steve E. Humphries, Serra Kim, C. Lisa Kurtz, Alexandre C. Pereira, Mafalda Bourbon, Amanda J. Hooper, Jessica Chonis, Jian Wang, Mark Trinder, Joshua W. Knowles, Premysl Soucek, Maggie Williams, Annette Leon, Alain Carrié

Publikováno v: Genetics in Medicine, 24(2), 293-306. Lippincott Williams & Wilkins

The online version of this article (https://doi.org/10.1016/j. gim.2021.09.012) contains supplementary material, which is available to authorized users. Purpose: In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Associatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::339fef96974d58015c82ac362e1f9381
https://hdl.handle.net/10400.18/8289