Výsledky vyhledávání - "Myosin Heavy Chains/genetics"

The Actin-Based Motor Myosin Vb Is Crucial to Maintain Epidermal Barrier Integrity

Autor: Guy Serre, Marie Reynier, Alain Moga, Corinne Leprince, Sophie Allart, Dominique Goudounèche, Michel Simon

Publikováno v: Journal of Investigative Dermatology
Journal of Investigative Dermatology, Nature Publishing Group, 2019, 139 (7), pp.1430-1438. ⟨10.1016/j.jid.2018.12.021⟩
Journal of Investigative Dermatology, 2019, 139 (7), pp.1430-1438. ⟨10.1016/j.jid.2018.12.021⟩

International audience; Myosin Vb (Myo5b) is an unconventional myosin involved in the actin-dependent transport and tethering of intracellular organelles. In the epidermis, granular keratinocytes accumulate cytoplasmic lamellar bodies (LBs), secretor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5b23279e57f8e5cb9731c489548ae9e
https://doi.org/10.1016/j.jid.2018.12.021

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Whole exome sequencing in the diagnostic workup of patients with a bleeding diathesis

Autor: Nicole M. A. Blijlevens, M.R. Nijziel, Joline L Saes, Bert A. van der Reijden, Waander L. van Heerde, Y. Smit, Paul P. T. Brons, Annet Simons, Sonja A. de Munnik, Saskia E M Schols, Marjolijn C.J. Jongmans

Publikováno v: Haemophilia, 25, 127-135
Haemophilia, 25, 1, pp. 127-135
Haemophilia, 25(1), 127. Wiley-Blackwell

INTRODUCTION: Bleeding assessment tools and laboratory phenotyping often remain inconclusive in patients with a haemorrhagic diathesis. AIM: To describe the phenotype and genetic profile of patients with a bleeding tendency. METHODS: Whole exome sequ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b970a0f32d5edcf2e3cd1010dff7ce04
https://doi.org/10.1111/hae.13638

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Proteomic and Functional Studies Reveal Detyrosinated Tubulin as Treatment Target in Sarcomere Mutation-Induced Hypertrophic Cardiomyopathy

Autor: Diederik W. D. Kuster, Maike Schuldt, Saskia Schlossarek, Jaco C. Knol, Thang V. Pham, Michiel Dalinghaus, Michelle Michels, Tim Schelfhorst, Connie R. Jimenez, Marie-Jo Moutin, Jolanda van der Velden, Sander R. Piersma, Jiayi Pei, Michal Mokry, Larissa M. Dorsch, Lucie Carrier, Magdalena Harakalova, Cris dos Remedios, Folkert W. Asselbergs

Publikováno v: Circulation. Heart failure
Circulation. Heart failure, 2021, 14 (1), ⟨10.1161/CIRCHEARTFAILURE.120.007022⟩
Circulation. Heart failure, 14(1):e007022. Lippincott Williams & Wilkins
Circulation. Heart Failure
Circ Heart Fail
Circulation. Heart failure, 14(1). Lippincott Williams and Wilkins
Schuldt, M, Pei, J, Harakalova, M, Dorsch, L M, Schlossarek, S, Mokry, M, Knol, J C, Pham, T V, Schelfhorst, T, Piersma, S R, Dos Remedios, C, Dalinghaus, M, Michels, M, Asselbergs, F W, Moutin, M-J, Carrier, L, Jimenez, C R, van der Velden, J & Kuster, D W D 2021, ' Proteomic and Functional Studies Reveal Detyrosinated Tubulin as Treatment Target in Sarcomere Mutation-Induced Hypertrophic Cardiomyopathy ', Circulation. Heart failure, vol. 14, no. 1, e007022 . https://doi.org/10.1161/CIRCHEARTFAILURE.120.007022
Circulation. Heart failure, Lippincott Williams & Wilkins, 2021, 14 (1), ⟨10.1161/CIRCHEARTFAILURE.120.007022⟩
Circulation. Heart failure, 14(1):e007022. Lippincott Williams and Wilkins

Supplemental Digital Content is available in the text.
Background: Hypertrophic cardiomyopathy (HCM) is the most common genetic heart disease. While ≈50% of patients with HCM carry a sarcomere gene mutation (sarcomere mutation-positive, HCMSMP

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::536db8cc06d783840bdc2eb32fe1bbfe
https://doi.org/10.1161/circheartfailure.120.007022

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Non-Muscle Myosin 2A (NM2A): Structure, Regulation and Function

Autor: Cláudia Brito, Sandra Maria Zákia Lian Sousa

Publikováno v: Cells, Vol 9, Iss 1590, p 1590 (2020)
Cells

Non-muscle myosin 2A (NM2A) is a motor cytoskeletal enzyme with crucial importance from the early stages of development until adulthood. Due to its capacity to convert chemical energy into force, NM2A powers the contraction of the actomyosin cytoskel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edfb2effb428aed032bf8004e2812d38
https://hdl.handle.net/10216/143490

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Experimental heart failure modelled by the cardiomyocyte-specific loss of an epigenome modifier, DNMT3B

Autor: Mitsutero Ito, Jeremy N. Skepper, Syed Haider, Roger Foo, Kelvin See, M. Ackers-Johnson, Emma L. Robinson, H.L. Roderick, Nichola Figg, Anne C. Ferguson-Smith, Carmen Methner, Patrick Brien, Ana Vujic

Publikováno v: Journal of Molecular and Cellular Cardiology, 82, 174-83. ELSEVIER SCI LTD

Differential DNA methylation exists in the epigenome of end-stage failing human hearts but whether it contributes to disease progression is presently unknown. Here, we report that cardiac specific deletion of Dnmt3b, the predominant DNA methyltransfe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::074fbaab3c4c5ce4cf5fd4a280dc1362
https://doi.org/10.1016/j.yjmcc.2015.03.007

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Non-muscle myosin IIB (Myh10) is required for epicardial function and coronary vessel formation during mammalian development

Autor: Liam A, Ridge, Karen, Mitchell, Ali, Al-Anbaki, Wasay Mohiuddin, Shaikh Qureshi, Louise A, Stephen, Gennadiy, Tenin, Yinhui, Lu, Irina-Elena, Lupu, Christopher, Clowes, Abigail, Robertson, Emma, Barnes, Jayne A, Wright, Bernard, Keavney, Elisabeth, Ehler, Simon C, Lovell, Karl E, Kadler, Kathryn E, Hentges

Publikováno v: PLoS Genetics, Vol 13, Iss 10, p e1007068 (2017)
Ridge, L A, Mitchell, K, Al-Anbaki, A, Shaikh Qureshi, W M, Stephen, L A, Tenin, G, Lu, Y, Lupu, I-E, Clowes, C, Robertson, A, Barnes, E, Wright, J A, Keavney, B, Ehler, E, Lovell, S C, Kadler, K E & Hentges, K E 2017, ' Non-muscle Myosin IIB (Myh10) Is Required for Epicardial Function and Coronary Vessel Formation During Mammalian Development ', PL o S Genetics, vol. 13, no. 10, e1007068, pp. e1007068 . https://doi.org/10.1371/journal.pgen.1007068
PLoS Genetics

The coronary vasculature is an essential vessel network providing the blood supply to the heart. Disruptions in coronary blood flow contribute to cardiac disease, a major cause of premature death worldwide. The generation of treatments for cardiovasc

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https://doaj.org/article/4a841ebc5e44469a893feb2ef3277b47

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Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients with MYH9-Related Disease

Autor: Marco Benazzo, Paolo Gresele, Henricus P. M. Kunst, Nuria Pujol-Moix, Alessandro Pecci, Tiziana Fierro, Patrick L. M. Huygen, Anna Savoia, Eva J J Verver, Paula G. Heller, Vedat Topsakal, Wilko Grolman

Publikováno v: Ear and Hearing, 37, 1, pp. 112-20
Ear and Hearing, 37, 112-20
Ear and Hearing, 37(1), 112. Lippincott Williams and Wilkins
EAR AND HEARING
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

Objectives: MYH9-related disease (MYH9-RD) is an autosomal-dominant disorder deriving from mutations in MYH9, the gene for the nonmuscle myosin heavy chain (NMMHC)-IIA. MYH9-RD has a complex phenotype including congenital features, such as thrombocyt

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebd75f4d01e8ead4ece162460cd29c0f
http://journals.lww.com/ear-hearing/pages/articleviewer.aspx?year=2016&issue=01000&article=00012&type=abstract

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Comprehensive Field Synopsis and Systematic Meta-analyses of Genetic Association Studies in Cutaneous Melanoma

Autor: George M. Spyrou, Johannes T. Roehr, Vasiliki Nicolaou, Elizabeth Kodela, Andreas Katsambas, Evangelos Evangelou, Foteini Chatzinasiou, Katerina P. Kypreou, Christina M. Lill, John P. A. Ioannidis, I. Stefanaki, Hensin Tsao, Lars Bertram, Alexander J. Stratigos

Publikováno v: JNCI Journal of the National Cancer Institute. 103:1227-1235

BACKGROUND: Although genetic studies have reported a number of loci associated with cutaneous melanoma (CM) risk, a comprehensive synopsis of genetic association studies published in the field and systematic meta-analysis for all eligible polymorphis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1df31dfaea6e19807071d69647c3c57
https://doi.org/10.1093/jnci/djr219

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Functional characterization of vertebrate nonmuscle myosin IIB isoforms using Dictyostelium chimeric myosin II

Autor: Yuichi Hiratsuka, Akihiko Yamagishi, Keita Takahashi, Keiji Uchida, Masayuki Takahashi, Taro Q.P. Uyeda, Michio Yazawa

Publikováno v: The Journal of biological chemistry. 276(2):1034-1040

The alternatively spliced isoform of nonmuscle myosin II heavy chain B (MHC-IIB) with an insert of 21 amino acids in the actin-binding surface loop (loop 2), MHC-IIB(B2), is expressed specifically in the central nervous system of vertebrates. To exam

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11b3ec5a37e61767585c19e63739b71a
http://hdl.handle.net/2115/52172

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