Academic literature on the topic 'ACTN1'

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Dissertations / Theses on the topic "ACTN1"

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Zablocki, Destinee Elizabeth. "Differential Expression of Calsarcin Genes in Orthognathic Surgery Patients with ACTN3 R577X Gene Deviations." Master's thesis, Temple University Libraries, 2016. http://cdm16002.contentdm.oclc.org/cdm/ref/collection/p245801coll10/id/405298.

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Oral Biology<br>M.S.<br>Objective: Malocclusion is a complex musculoskeletal trait, with muscle playing an integral role in vertical facial development. A single nucleotide polymorphism (SNP) produces the R577XX nonsense mutation in the alpha-actinin-3 (ACTN3) gene, creating a stop codon and loss of its protein. With loss of ACTN3, alpha-actinin-2 (ACTN2) is upregulated. Calsarcins, known inhibitors of calcineurin activation, preferentially bind ACTN2 leading to a surge in free calcineurin. The increase in calcineurin activity produces the phenotypic shift of fast muscle fibers toward the slow
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Zebrick, Brian Matthew. "ACTN3 R577X GENOTYPES ASSOCIATE WITH CLASS II AND DEEP BITE MALOCCLUSIONS." Master's thesis, Temple University Libraries, 2015. http://cdm16002.contentdm.oclc.org/cdm/ref/collection/p245801coll10/id/329277.

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Oral Biology<br>M.S.<br>Alpha-actinins are myofibril anchor proteins, which influence contractile properties of skeletal muscle. ACTN2 is expressed in slow type I and fast type II fibers whereas ACTN3 is expressed only in fast fibers. ACTN3 homozygosity for the 577X stop codon (i.e. changing 577RR to 577XX - the R577X polymorphism) results in the absence of alpha-actinin-3 in about 18% of Europeans, diminished fast contractile ability, enhanced endurance performance, and reduced bone mass or bone mineral density. We have examined ACTN3 expression and genetic variation in masseter muscle of ort
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Nicholl, Sarah. "Characterisation of AAE7/ACN1 and aconitase isoforms from Arabidopsis thaliana." Thesis, Bangor University, 2011. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.536471.

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Hong, Lingzi. "Act1-Mediated RNA Metabolism in IL-17-Driven Inflammatory Diseases." Case Western Reserve University School of Graduate Studies / OhioLINK, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=case162673878106271.

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Sniečkus, Audrius. "Raumenų pažaidos priklausomumas nuo krūvio išdėstymo strategijos, sportininkų specializacijos ir genotipo." Doctoral thesis, Lithuanian Academic Libraries Network (LABT), 2013. http://vddb.laba.lt/obj/LT-eLABa-0001:E.02~2013~D_20130610_125924-56862.

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Neįprasti didelio intensyvumo (ypač ekscentriniai) raumenų susitraukimai gali sukelti raumenų pažaidą (Yanagisawa et al., 2011; Neme et al., 2013), kuri pasireiškia sumažėjusia raumenų susitraukimo jėga Byrne et al., 2004; Skurvydas et al., 2010) miofibrilių Z linijos morfologiniais pokyčiais (Feasson et al., 2002), baltymų ištekėjimu iš pažeistų raumens skaidulų, raumenų skausmu, patinimu ir padidėjusiu standumu (Malisoux et al., 2006; Chen et al., 2013). Pažaida dažna pradėjus intensyviai treniruotis po santykinai mažo fizinio aktyvumo laikotarpio arba kaitant krūvio parametrus (intensyvumą
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Binti, Ahmad Yusof Hazwani. "The Effects of Angiotensin I-Converting Enzyme (ACE) I/D and Alpha-Actinin-3 (ACTN3) R/X Gene Polymorphisms on Human Physical Performance and Health within Malaysian Population." Thesis, The University of Sydney, 2015. http://hdl.handle.net/2123/14722.

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A disparity population data set in the current literature with limited reports among Asian samples, coupled with the inconsistent findings among different ethnic groups, and lack of information for the involvement of angiotensin I-converting enzyme (ACE) I/D and alpha-actinin-3 (ACTN3) R/X gene polymorphisms in training adaptation have limited the ability of researchers to draw meaningful conclusions pertaining to the effects of these polymorphisms on human physical performance and health. Therefore, this doctoral research implemented three series of studies to examine the effects of ACE I/D a
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Swaidani, Shadi. "THE ROLE OF ACT1 IN IL-25 DEPENDENT TH2 RESPONSES AND ALLERGIC AIRWAY INFLAMMATION AND AIRWAY HYPERRESPONSIVENESS." Case Western Reserve University School of Graduate Studies / OhioLINK, 2010. http://rave.ohiolink.edu/etdc/view?acc_num=case1270240862.

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Vilella-Arias, Santiago Andrés. "Estudo de candidatos a biomarcadores moleculares de prognóstico em carcinoma renal de células claras." Universidade de São Paulo, 2013. http://www.teses.usp.br/teses/disponiveis/46/46131/tde-20032014-075848/.

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O carcinoma de células renais (CCR) é o tumor mais agressivo que afeta o rim de pessoas adultas. O CCR é uma doença heterogênea, com diferentes alterações moleculares e variados patrões histológicos e clínicos que apresentam evolução diferente. Atualmente apenas variáveis anatomopatológicas clássicas são utilizadas para determinar o prognóstico dos pacientes. Utilizando uma plataforma de microarranjos de DNA, nosso grupo identificou em um trabalho anterior um conjunto de genes que se encontram diferencialmente expressos em tumores de rim. Neste estudo, nove candidatos foram selecionados para a
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Velichko, Sharlene, Xu Zhou, Lingxiang Zhu, Johnathon David Anderson, Reen Wu, and Yin Chen. "A Novel Nuclear Function for the Interleukin-17 Signaling Adaptor Protein Act1." PUBLIC LIBRARY SCIENCE, 2016. http://hdl.handle.net/10150/621947.

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In the context of the human airway, interleukin-17A (IL-17A) signaling is associated with severe inflammation, as well as protection against pathogenic infection, particularly at mucosal surfaces such as the airway. The intracellular molecule Act1 has been demonstrated to be an essential mediator of IL-17A signaling. In the cytoplasm, it serves as an adaptor protein, binding to both the intracellular domain of the IL-17 receptor as well as members of the canonical nuclear factor kappa B (NF-kappa B) pathway. It also has enzymatic activity, and serves as an E3 ubiquitin ligase. In the context o
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Wagle, John P., Kevin M. Carroll, Aaron J. Cunanan, et al. "Preliminary Investigation Into the Effect of ACTN3 and ACE Polymorphisms on Muscle and Performance Characteristics." Digital Commons @ East Tennessee State University, 2018. https://dc.etsu.edu/etsu-works/4663.

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The purpose of this investigation was to explore the phenotypic and performance outcomes associated with ACTN3 and ACE polymorphisms. Ten trained men (age = 25.8 ± 3.0 years, height = 183.3 ± 4.1 cm, body mass = 92.3 ± 9.3 kg, and back squat to body mass ratio = 1.8 ± 0.3) participated. Blood samples were analyzed to determine ACTN3 and ACE polymorphisms. Standing ultrasonography images of the vastus lateralis (VL) were collected to determine whole muscle cross-sectional area (CSA-M), and a percutaneous muscle biopsy of the VL was collected to determine type I–specific CSA (CSA-T1), type II–sp
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