Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations.

Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations.

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Striated muscle myosin heavy chain is a molecular motor protein that converts chemical energy into mechanical force. It is a major determinant of the physiological properties of each of the three muscle fibre types that make up the skeletal muscles. Heterozygous dominant missense mutations in myosin...

Bibliográfalaš dieđut
Váldodahkkit:	Tajsharghi, H, Hilton-Jones, D, Raheem, O, Saukkonen, A, Oldfors, A, Udd, B
Materiálatiipa:	Journal article
Giella:	English
Almmustuhtton:	2010

Geahča maid

Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations
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Almmustuhtton: (2010)

Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2
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Almmustuhtton: (2022-11-01)

Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.
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NEK9 regulates primary cilia formation by acting as a selective autophagy adaptor for MYH9/myosin IIA
Dahkki: Yasuhiro Yamamoto, et al.
Almmustuhtton: (2021-06-01)

A unique role for nonmuscle myosin heavy chain IIA in regulation of epithelial apical junctions.
Dahkki: Andrei I Ivanov, et al.
Almmustuhtton: (2007-08-01)

Myofibre Hyper-Contractility in Horses Expressing the Myosin Heavy Chain Myopathy Mutation, <i>MYH1<sup>E321G</sup></i>
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Almmustuhtton: (2021-12-01)

Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues
Dahkki: F. Rinaldi, et al.
Almmustuhtton: (2012-01-01)

Dlc1 interaction with non-muscle myosin heavy chain II-A (Myh9) and Rac1 activation
Dahkki: Mohammad G. Sabbir, et al.
Almmustuhtton: (2016-04-01)

Proteomics analysis of the non-muscle myosin heavy chain IIa-enriched actin-myosin complex reveals multiple functions within the podocyte.
Dahkki: Thomas Hays, et al.
Almmustuhtton: (2014-01-01)

Corrigendum: Nonmuscle myosin heavy chain IIA-mediated exosome release via regulation of the rho-associated kinase 1/myosin light chains/actin pathway
Dahkki: Yanni Lv, et al.
Almmustuhtton: (2024-09-01)

Prevalence of clinical signs and factors impacting expression of myosin heavy chain myopathy in Quarter Horse‐related breeds with the MYH1E321G mutation
Dahkki: Stephanie J. Valberg, et al.
Almmustuhtton: (2022-05-01)

Effect of donor non-muscle myosin heavy chain (MYH9) gene polymorphisms on clinically relevant kidney allograft dysfunction
Dahkki: Joanna Pazik, et al.
Almmustuhtton: (2020-09-01)

Expression of non-muscle type myosin heavy polypeptide 9 (MYH9) in mammalian cells
Dahkki: T Takubo, et al.
Almmustuhtton: (2009-06-01)

Nonmuscle myosin IIA dynamically guides regulatory light chain phosphorylation and assembly of nonmuscle myosin IIB
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Almmustuhtton: (2022-04-01)

Significance of α-Myosin Heavy Chain (<i>MYH6</i>) Variants in Hypoplastic Left Heart Syndrome and Related Cardiovascular Diseases
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Almmustuhtton: (2022-05-01)

Nonmuscle myosin 2 proteins encoded by Myh9, Myh10, and Myh14 are uniquely distributed in the tubular segments of murine kidney
Dahkki: Karla L. Otterpohl, et al.
Almmustuhtton: (2017-12-01)

Mutation of the MYH3 gene causes recessive cleft palate in Limousine cattle
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Almmustuhtton: (2022-10-01)

Non-muscle myosin IIa heavy chain links squamous cell carcinoma of the head and neck to the DNA damage response
Dahkki: David R. Raleigh, et al.
Almmustuhtton: (2014-08-01)

A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency
Dahkki: Aurélien Perrin, et al.
Almmustuhtton: (2020-05-01)

T Lymphocyte Myosin IIA is Required for Maturation of the Immunological Synapse.
Dahkki: Kumari, S, et al.
Almmustuhtton: (2012)

Myosin IIA and formin dependent mechanosensitivity of filopodia adhesion
Dahkki: N. O. Alieva, et al.
Almmustuhtton: (2019-08-01)

T lymphocyte myosin IIA is required for maturation of the immunological synapse
Dahkki: Sudha eKumari, et al.
Almmustuhtton: (2012-08-01)

Polymorphisms in the non-muscle myosin heavy chain gene (MYH9) are associated with lower glomerular filtration rate in mixed ancestry diabetic subjects from South Africa.
Dahkki: Tandi Edith Matsha, et al.
Almmustuhtton: (2012-01-01)

Identification of a new mechanism for targeting myosin II heavy chain phosphorylation by <it>Dictyostelium </it>myosin heavy chain kinase B
Dahkki: Steimle Paul A, et al.
Almmustuhtton: (2010-03-01)

Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy.
Dahkki: Blair, E, et al.
Almmustuhtton: (2002)

HBXIP blocks myosin-IIA assembly by phosphorylating and interacting with NMHC-IIA in breast cancer metastasis
Dahkki: Lu Zhang, et al.
Almmustuhtton: (2023-03-01)

Nonmuscle Myosin Heavy Chain IIA Recognizes Sialic Acids on Sialylated RNA Viruses To Suppress Proinflammatory Responses via the DAP12-Syk Pathway
Dahkki: Yingqi Liu, et al.
Almmustuhtton: (2019-06-01)

Dilated cardiomyopathy mutation (R134W) in mouse cardiac troponin T induces greater contractile deficits against α-myosin heavy chain than against β-myosin heavy chain
Dahkki: Sampath K Gollapudi, et al.
Almmustuhtton: (2016-10-01)

Human skeletal myopathy myosin mutations disrupt myosin head sequestration
Dahkki: Glenn Carrington, et al.
Almmustuhtton: (2023-11-01)

Myosin heavy chain pattern in the Akhal-Teke horses
Dahkki: K. Leisson, et al.
Almmustuhtton: (2011-01-01)

Lampreys have a single gene cluster for the fast skeletal myosin heavy chain gene family.
Dahkki: Daisuke Ikeda, et al.
Almmustuhtton: (2013-01-01)

Pilot study of an association between a common variant in the non-muscle myosin heavy chain 9 (MYH9) gene and type 2 diabetic nephropathy in a Taiwanese population
Dahkki: Chang-Hsun Hsieh, et al.
Almmustuhtton: (2010-03-01)

A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy
Dahkki: Niloofar Naderi, et al.
Almmustuhtton: (2023-10-01)

Endothelial Myosin IIA Is Required for the Maintenance of Blood–Brain Barrier Integrity
Dahkki: Yanan Deng, et al.
Almmustuhtton: (2024-10-01)

Functional analysis of hypertrophic cardiomyopathy missense mutations in the light meromyosin region of beta myosin heavy chain
Dahkki: Redwood, C, et al.
Almmustuhtton: (2003)

Mutation in the beta-myosin heavy chain (β-MHC) gene of adult Bangladeshi patients with hypertrophic cardiomyopathy
Dahkki: Laila Anjuman Banu, et al.
Almmustuhtton: (2023-02-01)

Mutation in the beta-myosin heavy chain (β-MHC) gene of adult Bangladeshi patients with hypertrophic cardiomyopathy
Dahkki: Laila Anjuman Banu, et al.
Almmustuhtton: (2023-02-01)

Mutation in the beta-myosin heavy chain (β-MHC) gene of adult Bangladeshi patients with hypertrophic cardiomyopathy
Dahkki: Laila Anjuman Banu, et al.
Almmustuhtton: (2023-02-01)

Systemic calcinosis in a Quarter Horse gelding homozygous for a myosin heavy chain 1 mutation
Dahkki: Beatrice T. Sponseller, et al.
Almmustuhtton: (2022-07-01)

Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene.
Dahkki: Birgit S Budde, et al.
Almmustuhtton: (2007-01-01)