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Dissertations / Theses on the topic 'ACTN1'

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Published: 1 April 2023

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1

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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4

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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5

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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8

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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Wu, Ling. "A HYPER TH17 RESPONSE CONNECTS THE PSORIASIS-ASSOCIATED ACT1 VARIANT TO SKIN INFLAMMATION." Case Western Reserve University School of Graduate Studies / OhioLINK, 2015. http://rave.ohiolink.edu/etdc/view?acc_num=case1409866338.

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Allard-Chamard, Xavier. "Impact du génotype de l'ACTN3 sur la conservation et l'évolution de la force musculaire chez les individus atteints de dystrophie myotonique de type 1." Master's thesis, Université Laval, 2018. http://hdl.handle.net/20.500.11794/33549.

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Protocole d'entente entre l'Université Laval et l'Université du Québec à Chicoutimi<br>Le but de cette investigation vise à analyser l’impact du génotype de l’ACTN3 sur la conservation et l’évolution de la force musculaire chez les individus atteints de DM1. Cette étude se veut une recherche longitudinale, les patients ayant été évalués sur deux périodes séparées de 9 ans (temps 1 et temps 2). L’analyse de l’impact du génotype de l’ACTN3 comporte deux volets. Le premier volet a pour objectif d’identifier si l’absence de protéine alpha-actinine 3 (génotype 577XX) provoque chez les personnes att
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Zhao, Xuan. "THE ROLE OF ALPHA-ACTININ4 (ACTN4) IN TRANSCRIPTIONAL REGULATION IN HUMAN PODOCYTES (HPC) AND IN NEPHROTIC SYNDROME." Case Western Reserve University School of Graduate Studies / OhioLINK, 2017. http://rave.ohiolink.edu/etdc/view?acc_num=case1499425861681003.

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14

Salgueirosa, Fabiano de Macedo. "Influência do polimorfismo do ACTN3 e ACE I/D em indicadores de performance em atletas profissionais de futebol." reponame:Repositório Institucional da UFPR, 2013. http://hdl.handle.net/1884/32751.

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Orientador : Prof. Dr. Raul Osiecki<br>Tese (doutorado) - Universidade Federal do Paraná, Setor de Ciencias Biológicas, Programa de Pós-Graduaçao em Educaçao Física. Defesa: Curitiba,30/08/2013<br>Bibliografia: fls. 63-73<br>Área de concentração: Exercício e esporte<br>Resumo: O objetivo do estudo foi analisar a Influência do polimorfismo do ACTN3 e ACE I/Dem indicadores de performanceem atletas profissionais de futebol. A amostra foi composta de 40 atletas de uma equipe da primeira divisão do futebol brasileiro. A genotipagem dos polimorfismos do ACTN3 e ACE I/D foi realizada por reação em ca
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Woellner, Glaucio Neves. "Avaliação da associação dos polimorfismos da enzima conversora da angiotensina (ACE) e ACTN3 na relação potência versus resistência." Universidade Tecnológica Federal do Paraná, 2017. http://repositorio.utfpr.edu.br/jspui/handle/1/2730.

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O Atletismo é uma modalidade esportiva que possui provas com demandas energéticas diferentes: potência (P) para saltadores, velocistas e lançadores e resistência (R) para corredores de longas distâncias e marcha atlética. É possível observar diferenças destas características com as possíveis variações da frequência do genótipo DD (deleção), II (inserção) e heterozigoto ID na ACE, bem como da frequência genotípica RR, RX e XX na ACTN3. O presente artigo tem por objetivo correlacionar à recorrência do polimorfismo ACE (Enzima Conversora da Angiotensina) da ACTN3 nos atletas de Atletismo. Estudos
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Delmonico, Matthew Jon. "Does the alpha-actinin-3 (actn3) polymorphism influence knee extensor peak power response to strength training in older adults?" College Park, Md. : University of Maryland, 2005. http://hdl.handle.net/1903/3057.

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Thesis (Ph. D.) -- University of Maryland, College Park, 2005.<br>Thesis research directed by: Kinesiology. Title from t.p. of PDF. Includes bibliographical references. Published by UMI Dissertation Services, Ann Arbor, Mich. Also available in paper.
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Pasqua, Leonardo Alves. "Associação entre o polimorfismo de nucleotídeo único no gene ACTN3, variáveis fisiológicas e parâmetros neuromusculares relacionados à aptidão aeróbia." Universidade de São Paulo, 2013. http://www.teses.usp.br/teses/disponiveis/39/39134/tde-10062013-090612/.

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O objetivo do presente estudo foi investigar a existência de associação entre os diferentes genótipos do polimorfismo R577X do gene ACTN3 e variáveis fisiológicas e neuromusculares associadas à aptidão aeróbia e ao desempenho em provas de longa duração. Cento e cinquenta indivíduos fisicamente ativos foram submetidos aos seguintes testes: a) teste incremental máximo para determinação do consumo máximo de oxigênio, velocidade de pico, limiar ventilatório (LV) e ponto de compensação respiratória (PCR); b) dois testes de cargas constantes nas velocidades de 10 km.h-1 e 12 km.h-1 para determinação
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Konovalenko, Zhanna. "Gene association of a-B-crystallin with R577X polymorphism for ACTN3 and nociception in subjects with TMD-related myalgia." Master's thesis, Temple University Libraries, 2016. http://cdm16002.contentdm.oclc.org/cdm/ref/collection/p245801coll10/id/399141.

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Oral Biology<br>M.S.<br>Masseter muscle is one of the major muscles of mastication, and is comprised of actin and myosin myofibrils organized into sarcomeric contractile units. Structurally, sarcomeres are repeating portions of myofibrils between neighboring Z-lines (a.k.a. Z-disc, Z-band). The Z-line or Z-disc is composed of non-contractile proteins that provide mechanical stability to the sarcomere. One of the proteins of Z-disc is alpha-B-crystallin, a protein product of the gene CRYAB. Together with several other proteins of the Z-disc, CRYAB gene has been found to be up-regulated in Actn3
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Pranculis, Aidas. "Genetinių veiksnių, lemiančių organizmo fizinį pajėgumą, analizė." Master's thesis, Lithuanian Academic Libraries Network (LABT), 2014. http://vddb.library.lt/obj/LT-eLABa-0001:E.02~2010~D_20140625_194309-16617.

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Genetinių veiksnių, lemiančių žmogaus fizinį pajėgumą, analizė Tapimas didelio meistriškumo sportininku yra sudėtingas procesas, kuriam įtakos turi ne tik aplinkos ar psichologiniai veiksniai, tačiau ir genetiškai nulemtos fizinio pajėgumo savybės. Fizinis pajėgumas- sudėtinė kiekybinė paveldima savybė, kurios fenotipus įtakoja daug genų bei aplinkos veiksnių. Daugeliu atvejų morfologinės ir funkcinės sportininko savybės yra siejamos su vieno nukleotido polimorfizmais tam tikrame gene. Skirtingi to paties geno aleliai gali turėti skirtingą poveikį asmens fiziniam vystymuisi ir darbingumui. Mak
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Lornage, Xavière. "Identification and functional characterization of novel genes implicated in congenital myopathies." Thesis, Strasbourg, 2019. http://www.theses.fr/2019STRAJ067.

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Les myopathies congénitales sont des maladies génétiques sévères caractérisées par une faiblesse musculaire très invalidante de début infantile. Afin d’identifier de nouvelles causes génétiques, nous avons séquencé les exomes de patients myopathes qui ne disposaient pas de diagnostic moléculaire et leur analyse a mis en évidence deux nouveaux gènes de myopathie. MYPN et ACTN2 codent pour deux protéines structurales du sarcomères appelées myopalladine et alphaactinine-2. Afin d’étudier l’impact des mutations sur la fonction de la protéine et sur la physiologie du muscle, des analyses moléculair
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McCauley, Tracey. "Are ACE I/D and ACTN3 R577X polymorphisms associated with the muscle function of young and older men, and frequent fallers?" Thesis, Loughborough University, 2009. https://dspace.lboro.ac.uk/2134/12930.

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Angiotensin Converting Enzyme (ACE) IID, and a actinin 3 (AC1N3) R577X polymorphisms have been linked to the strength and power performance of elite athletes and suggested to influence skeletal muscle function in the general popUlation. This research investigated the association of these two candidate gene polymorphisms with the muscle function of young and older men, and the distribution of these genotypes in frequent fallers compared to controls. Muscle function measurements of young and older men included isometric strength, absolute and relative isokinetic strength at high velocity (ratio
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Hartupee, Justin Curtis. "Regulation of mRNA Stability in Chemokine Gene Expression." Case Western Reserve University School of Graduate Studies / OhioLINK, 2008. http://rave.ohiolink.edu/etdc/view?acc_num=case1212426414.

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Arejano, Gabrielle Gaspar. "Associações dos polimorfismos genéticos ECA I/D, ACTN3 R577X e PON1 C(-107)T de mulheres diabéticas e/ou hipertensas e controles." Universidade Federal de Pelotas, 2017. http://guaiaca.ufpel.edu.br:8080/handle/prefix/3946.

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Submitted by Aline Batista (alinehb.ufpel@gmail.com) on 2018-05-24T13:05:15Z No. of bitstreams: 2 license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) Dissertacao_Gabrielle_Gastar.pdf: 1814034 bytes, checksum: 214de94beffb5c3d14f679611239db4b (MD5)<br>Approved for entry into archive by Aline Batista (alinehb.ufpel@gmail.com) on 2018-05-24T13:56:54Z (GMT) No. of bitstreams: 2 license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) Dissertacao_Gabrielle_Gastar.pdf: 1814034 bytes, checksum: 214de94beffb5c3d14f679611239db4b (MD5)<br>Approved for entry into arc
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Albuquerque, Neto Severino Leão de. "Associação dos polimorfismos I/D do gene da ECA e R557X do gene da ACTN3 aos indicadores de desempenho em jovens atletas da natação brasileira." Universidade Católica de Brasília, 2018. https://bdtd.ucb.br:8443/jspui/handle/tede/2442.

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Submitted by Sara Ribeiro (sara.ribeiro@ucb.br) on 2018-08-08T17:45:39Z No. of bitstreams: 1 SeverinoLeãodeAlbuquerqueNetoTese2018.pdf: 2484170 bytes, checksum: b4db26e2e2354477363089d9c62b4b72 (MD5)<br>Approved for entry into archive by Sara Ribeiro (sara.ribeiro@ucb.br) on 2018-08-08T17:46:25Z (GMT) No. of bitstreams: 1 SeverinoLeãodeAlbuquerqueNetoTese2018.pdf: 2484170 bytes, checksum: b4db26e2e2354477363089d9c62b4b72 (MD5)<br>Made available in DSpace on 2018-08-08T17:46:25Z (GMT). No. of bitstreams: 1 SeverinoLeãodeAlbuquerqueNetoTese2018.pdf: 2484170 bytes, checksum: b4db26e2e235447736308
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Coelho, Daniel Barbosa. "Determinação da frequência genotípica do ACTN3 e da sua relação com o desempenho físico, respostas hormonais e indicadores do dano muscular em jogadores de futebol." Universidade Federal de Minas Gerais, 2011. http://hdl.handle.net/1843/KMCG-8LVN8P.

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The objective was to determine the frequency of ACTN3 in soccer players of different categories and their relationship to performance, hormonal responses and indicators of muscle damage after the game. We evaluated 367 male players under- 15 category, sub-17, U-20 and professional and amateur players (N. 14) and a control group (N. 100). All subjects were genotyped for the polymorphism ACTN3- RR, RX and XX. Were applied tests of aerobic capacity, squat jump (SJ), ountermovement jump (CMJ) and sprint test of 30 m (V30) subdivided into 10 m (V10) and 20 m (V20). Blood collections were performed
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Lima, Leonardo Coelho Rabello de [UNESP]. "Relação entre economia de corrida e força muscular: análise pelo modelo de dano muscular induzido pela corrida em declive." Universidade Estadual Paulista (UNESP), 2017. http://hdl.handle.net/11449/151839.

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Submitted by LEONARDO COELHO RABELLO DE LIMA null (leonardocrlima@gmail.com) on 2017-10-04T00:12:09Z No. of bitstreams: 1 Tese Leonardo Lima.pdf: 5043553 bytes, checksum: bb0d2f3885d5719b2bd99d08ef4a0617 (MD5)<br>Approved for entry into archive by Monique Sasaki (sayumi_sasaki@hotmail.com) on 2017-10-04T17:00:41Z (GMT) No. of bitstreams: 1 Tese Leonardo Lima.pdf: 5043553 bytes, checksum: bb0d2f3885d5719b2bd99d08ef4a0617 (MD5)<br>Made available in DSpace on 2017-10-04T17:00:41Z (GMT). No. of bitstreams: 1 Tese Leonardo Lima.pdf: 5043553 bytes, checksum: bb0d2f3885d5719b2bd99d08ef4a0617 (MD5
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Baltušnikas, Juozas. "α-aktinino-3 deficito įtaka greitumo, raumenų galingumo ir jėgos kaitai, lavinant greitumą". Master's thesis, Lithuanian Academic Libraries Network (LABT), 2010. http://vddb.laba.lt/obj/LT-eLABa-0001:E.02~2010~D_20100526_144309-88692.

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Greitumas – vienas iš svarbiausių judamųjų gebėjimų. Jis įvairiose sporto šakose pasireiškia skirtingomis formomis. Greitumo pratybos, tai tokios pratybos, kurios nemažina maksimalaus raumens susitraukimo ir atsipalaidavimo greičio, o jį padidina. Yra žinoma, kad jėgos pratybos yra kenksmingos greitumui. Mūsų nuomone, didžiausia problema sporto moksle - kaip padidinti jėgą nesumažinant raumens susitraukimo ir atsipalaidavimo greičio. Taip pat labai aktualu sužinoti, kaip skirtingų genų variantų žmonės geba didinti greitumą ir jo pasireiškimo formas. Šiuo metu pasirodė daug straipsnių apie ACTN
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Ribeiro, Ieler Ferreira. "Avaliação das interações entre a suplementação antioxidante com o óleo de pequi (caryocar brasiliense camb.) e os polimorfismos nos genes da α-actinina-3 (ACTN-3), eritropoetina (EPO) e seu receptor (EPOR) nos resultados do hemograma, marcadores bioquímicos e peroxidação lipídica, em corredores de rua". reponame:Repositório Institucional da UnB, 2013. http://repositorio.unb.br/handle/10482/12984.

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Dissertação (mestrado)—Universidade de Brasília, Faculdade de Medicina, Programa de Pós-Graduação em Patologia Molecular, 2013.<br>Submitted by Alaíde Gonçalves dos Santos (alaide@unb.br) on 2013-04-30T14:41:02Z No. of bitstreams: 1 2013_IelerFerreiraRibeiro.pdf: 1216592 bytes, checksum: d00140db9fb6953ef58299c495cacd72 (MD5)<br>Approved for entry into archive by Guimaraes Jacqueline(jacqueline.guimaraes@bce.unb.br) on 2013-05-02T13:04:00Z (GMT) No. of bitstreams: 1 2013_IelerFerreiraRibeiro.pdf: 1216592 bytes, checksum: d00140db9fb6953ef58299c495cacd72 (MD5)<br>Made available in DSpace on 201
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Cavallin, Mara. "Physiopathologie moléculaire et cellulaire des anomalies du développement du cortex cérébral : le syndrome d'Aicardi WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells TLE1, a key player in neurogenesis, a new candidate gene for autosomal recessive postnatal microcephaly Mutations in TBR1 gene leads to cortical malformations and intellectual disability Aicardi syndrome: Exome, genome and RNA-sequencing of a large cohort of 19 patients failed to detect the genetic cause Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction Recurrent KIF2A mutations are responsible for classic lissencephaly Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly Rare ACTG1 variants in fetal microlissencephaly De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy A novel recurrent LIS1 splice site mutation in classic lissencephaly Further refinement of COL4A1 and COL4A2 related cortical malformations Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused By EGP5 mutation Delineating FOXG1 syndrome from congenital microcephaly to hyperkinetic encephalopathy Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy." Thesis, Sorbonne Paris Cité, 2019. https://wo.app.u-paris.fr/cgi-bin/WebObjects/TheseWeb.woa/wa/show?t=2213&f=18201.

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Les malformations du cortex cérébral (MDC) représentent une cause importante de handicap et d'épilepsie pharmaco-résistante. Le séquençage à haut débit a permis une amélioration considérable de l'identification des bases moléculaires des MDC non syndromiques. Toutefois, certaines formes, notamment les MDC complexes, demeurent inexpliquées. Mon projet de thèse a pour objectif de progresser dans la compréhension des MDC complexes en utilisant deux modèles : les microlissencéphalies (MLIS) et le syndrome d'Aicardi (AIC), une forme syndromique particulière associant des malformations de l'oeil et
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PYC, MICHAL. "Investigating the effects of increased ACT11 expression on sexual reproduction and trichome branching in Arabidopsis." Thesis, 2014. http://hdl.handle.net/1974/12247.

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Activation-tagging is a powerful functional genomics technique used to identify plant genes and their functions. The random introduction of gene enhancers into the plant genome results in the overexpression of nearby genes, thus the gene responsible for a mutant phenotype can be determined based on the location of the enhancers. In a screen for activation-tagged Arabidopsis lines with aberrations in trichome morphology, a mutant (named P330) with unbranched trichomes was identified. In this thesis, the actin- encoding gene ACT11 was found to be upregulated by T-DNA pSKI015 in P330. Additionall
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31

Silva, João Pedro Rebelo da. "O papel do polimorfismo R577X do gene ACTN3 no futebol." Master's thesis, 2020. https://hdl.handle.net/10216/128898.

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O polimorfismo ACTN3 R577X é um dos mais promissores marcadores genéticos associados à performance desportiva, e os estudos existentes com futebolistas apontam para melhores desempenhos de velocidade e força e um menor risco de lesões associados ao alelo R deste polimorfismo. Assim, o polimorfismo ACTN3 R577X, combinado com outros marcadores, poderá ajudar na melhoria da performance desportiva dos futebolistas no futuro. No entanto, são necessários mais estudos que confirmem estes resultados, e as implicações éticas dos testes genéticos no desporto precisam de ser discutidas.<br>The ACTN3 R577
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32

Silva, João Pedro Rebelo da. "O papel do polimorfismo R577X do gene ACTN3 no futebol." Dissertação, 2020. https://hdl.handle.net/10216/128898.

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O polimorfismo ACTN3 R577X é um dos mais promissores marcadores genéticos associados à performance desportiva, e os estudos existentes com futebolistas apontam para melhores desempenhos de velocidade e força e um menor risco de lesões associados ao alelo R deste polimorfismo. Assim, o polimorfismo ACTN3 R577X, combinado com outros marcadores, poderá ajudar na melhoria da performance desportiva dos futebolistas no futuro. No entanto, são necessários mais estudos que confirmem estes resultados, e as implicações éticas dos testes genéticos no desporto precisam de ser discutidas.<br>The ACTN3 R577
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Hua-ChienChang and 張華倩. "Investigating Metastasis-related Functions and Clinical Applications of ACTN4 in Lung Adenocarcinoma." Thesis, 2013. http://ndltd.ncl.edu.tw/handle/27895739857756297614.

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碩士<br>國立成功大學<br>環境醫學研究所<br>101<br>Lung cancer is the leading cause of cancer related death worldwide. There is a lack of diagnostic tests that specifically address metastasis. In our previous research of comparison of cell secretomes with low and high metastatic abilities, Alpha-actinin-4 (ACTN4) exhibited high expression levels in the cell secretome with high metastatic ability. ACTN4 is one of the members in the ACTN family of binding filaments that preserve cytoskeletal structure and cell morphology. It is also known to have a critical role in transcriptional regulation; this suggests that
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34

Chen, Tzu Wen, and 陳姿汶. "The associations of ACTN3, ACE, and PPARD polymorphisms with physical fitness performance." Thesis, 2009. http://ndltd.ncl.edu.tw/handle/3s35nx.

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碩士<br>國立臺灣師範大學<br>體育學系<br>97<br>Purpose: To examine the role of ACTN3, ACE and PPARD polymorphism on physical fitness performance in untrained person. Also, to assess the differences in effect of the polymorphism on phenotype associated with different physical performance. Methods: All 411 subjects were of native Taiwan students and aged from 16-18 years old (241 males and 170 females). Height, weight, BMI and body fat were measured. Physical fitness performance were measured in 40m sprint, 30 sec push-up, 60 sec push-up, 30 sec sit-ups, 60 sec sit-ups, handgrip strength, 25m swim, and 1600m r
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Peng, Ching-Yi, and 彭瀞儀. "A research for the competitive relationship between ACTN2 and calmodulin to bind NRIP." Thesis, 2018. http://ndltd.ncl.edu.tw/handle/4xf3q4.

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碩士<br>國立臺灣大學<br>微生物學研究所<br>106<br>Nuclear receptor interaction protein (NRIP) also named DDB1 and CUL4 associated factor 6 (DCAF6) and IQ motif and WD repeats 1 (IQWD1), is composed of seven WD-40 domains and an IQ motif. NRIP acts as a coactivator to enhance the transcriptional activity of androgen receptor (AR), glucocorticoid receptor (GR) and human papillomavirus (HPV) E2 or prevent AR and HPV E2 from proteasomal degradation. The physiological role of NRIP also determined by using of NRIP global and muscle-specific knockout mice. Previous studies have demonstrated that IQ motif of NRIP ass
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Papadimitriou, Ioannis D. "The influence of ACTN3 R577X genotype on performance and muscle adaptations to a single bout of exercise." Thesis, 2018. https://vuir.vu.edu.au/37829/.

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ACTN3 has been labelled as the ‘gene for speed’ due to the increased frequency of the R allele encoding the α-actinin-3 protein in elite sprint athletes compared to the general population. The results of the first study of this thesis demonstrate that elite athletes who express α-actinin-3 (ACTN3 RR genotype) have faster sprint times compared to those who do not express α-actinin-3 (ACTN3 XX genotype). Further analysis indicates that the ACTN3 genotype accounts for 0.92% in sprint speed amongst elite 200-m athletes. In study two, the same quantitative genetic epidemiological design applied to
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Nunes, José Ricardo de Assis. "O polimorfismo R577X do gene da α-actitina 3 (ACTN3) em atletas de elite brasileiros de decatlo". Master's thesis, 2017. http://hdl.handle.net/10348/7377.

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Dissertação de Mestrado em Ciências do Desporto, Especialização em Avaliação e Prescrição na Atividade Física<br>Introdução: O decatlo é uma modalidade desportiva composta por dez provas de atletismo, cumpridas durante dois dias. A performance desportiva nesta modalidade exige uma combinação óptima de diferentes capacidades, nomeadamente resistência, força, velocidade e agilidade. As pesquisas científicas no domínio da biotecnologia e da genética têm identificado um número crescente de genes candidatos com efeito significativo na performance desportiva. Salienta-se em vários estudos de associa
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Pereira, Ana de Fátima da Costa. "Strength training and detraining in older women ACE I/D and ACTN3 R/X polymorphisms and muscle function." Doctoral thesis, 2014. http://hdl.handle.net/10348/3166.

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Tese de Doutoramento em Ciências do Desporto<br>Os declínios relacionados com o avanço da idade ocorrem de forma mais pronunciada nas características de potência muscular, fator inerente nas limitações funcionais e na qualidade de vida na população idosa. Estudos têm demonstrado uma variação substancial entre indivíduos em resposta ao treino de força, indicando o potencial papel da componente genética na adaptação muscular induzida pelo treino. O propósito desta investigação foi 1) examinar o efeito de 12 semanas de treino de potência com velocidade elevada na contração isométrica (força de pr
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39

Kiriaev, Leonit. "The role of branched muscle fibres and ACTN3 polymorphism as a genetic disease modifier in Duchenne nuscular dystrophy." Thesis, 2022. http://hdl.handle.net/1959.7/uws:68915.

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Duchenne muscular dystrophy (DMD) is the second most common fatal genetic disease in humans, with an incidence of 1 in 3300 live male births. DMD is characterized by progressive cycles of skeletal muscle necrosis/regeneration triggered by the absence of the protein dystrophin from the inner surface of the sarcolemma. In DMD and dystrophin-negative mdx mice, regenerated skeletal muscle fibres are branched and deterioration of muscle contractile function with age is correlated with an increase in both the number and complexity of branched fibres. In this thesis, I present four papers in support
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Zhang, Yuanyuan. "Actin crosslinking protein α-actinin-4 (ACTN4) regulates receptor-interacting serine/threonine-protein kinase 1 (RIPK1) in melanoma". Thesis, 2019. http://hdl.handle.net/1959.13/1395609.

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Research Doctorate - Doctor of Philosophy (PhD)<br>ACTN4 is a member of the α-actinin family of filamentous actin crosslinking proteins important for regulation of cytoskeletal integrity and cell movement (Honda, 2015; Honda et al., 1998; Hsu and Kao, 2013). Like other family members, ACTN4 contains an N-terminal actin-binding domain (ABD) with two calponin-homology (CH) repeats, a central rod domain (RD) with 4 spectrin-like repeats (SR) that is essential for anti-parallel dimerisation of ACTN4, and a calmodulin (CaM)-like domain (CLD) at the C-terminus (Broderick and Winder, 2002; Djinovic-C
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41

Berania, Ilyes. "La régulation des micro-ARNs dans les cancers de la langue mobile." Thèse, 2019. http://hdl.handle.net/1866/22306.

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42

Šafaříková, Markéta. "Genetické faktory ovlivňující průběh vybraných forem nefrotického syndromu." Master's thesis, 2011. http://www.nusl.cz/ntk/nusl-312728.

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Nephrotic syndrome (NS) is characterized by proteinuria, hypalbuminemia and edemas. It occurs during first and second glomerulopathies. This disease can be divided into two groups: primary (idiopathic) and secondary. The heredity of the familial nephrotic syndrome is autosomal dominant and autosomal recessive. There are four most important genes that condition the formation of hereditary nephrotic syndrome in adult patienst. These genes are ACTN4, CD2AP, NPHS2 and TRPC6. The gene ACTN4, which encodes protein α-actinin 4, is responsible for the autosomal dominant form of focal segmental glomeru
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Šafaříková, Markéta. "Geneticky podmíněné faktory progrese vybraných forem chronických nefropatií." Doctoral thesis, 2019. http://www.nusl.cz/ntk/nusl-396192.

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Nephrotic syndrome is characterized by proteinuria, hypoproteinemia, edemas and hyperlipidemia. It occurs in primary (e.g. focal segmental glomerulosclerosis, FSGS or minimal change disease, MCD) and in secondary glomerulopathies (e.g. kidney amyloidosis). In primary forms, great attention is paid to the potential genetic background of the disease and due to new molecular genetic methods genes, whose mutations cause different nephropathies (e.g. ACTN4 or INF2) were identified. The aims of presented doctoral thesis were following. Firstly, to continue the mutational analysis of ACTN4 that was d
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Zavatteri, Matteo. "Temporal and Resource Controllability of Workflows Under Uncertainty." Doctoral thesis, 2018. http://hdl.handle.net/11562/979769.

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Workflow technology has long been employed for the modeling, validation and execution of business processes. A workflow is a formal description of a business process in which single atomic work units (tasks), organized in a partial order, are assigned to processing entities (agents) in order to achieve some business goal(s). Workflows can also employ workflow paths (projections with respect to a total truth value assignment to the Boolean variables associated to the conditional split connectors) in order (not) to execute a subset of tasks. A workflow management system coordinates the execution
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