CINXE.COM
Search results for: Mazin Alqhazo
<!DOCTYPE html> <html lang="en" dir="ltr"> <head> <!-- Google tag (gtag.js) --> <script async src="https://www.googletagmanager.com/gtag/js?id=G-P63WKM1TM1"></script> <script> window.dataLayer = window.dataLayer || []; function gtag(){dataLayer.push(arguments);} gtag('js', new Date()); gtag('config', 'G-P63WKM1TM1'); </script> <!-- Yandex.Metrika counter --> <script type="text/javascript" > (function(m,e,t,r,i,k,a){m[i]=m[i]||function(){(m[i].a=m[i].a||[]).push(arguments)}; m[i].l=1*new Date(); for (var j = 0; j < document.scripts.length; j++) {if (document.scripts[j].src === r) { return; }} k=e.createElement(t),a=e.getElementsByTagName(t)[0],k.async=1,k.src=r,a.parentNode.insertBefore(k,a)}) (window, document, "script", "https://mc.yandex.ru/metrika/tag.js", "ym"); ym(55165297, "init", { clickmap:false, trackLinks:true, accurateTrackBounce:true, webvisor:false }); </script> <noscript><div><img src="https://mc.yandex.ru/watch/55165297" style="position:absolute; left:-9999px;" alt="" /></div></noscript> <!-- /Yandex.Metrika counter --> <!-- Matomo --> <!-- End Matomo Code --> <title>Search results for: Mazin Alqhazo</title> <meta name="description" content="Search results for: Mazin Alqhazo"> <meta name="keywords" content="Mazin Alqhazo"> <meta name="viewport" content="width=device-width, initial-scale=1, minimum-scale=1, maximum-scale=1, user-scalable=no"> <meta charset="utf-8"> <link href="https://cdn.waset.org/favicon.ico" type="image/x-icon" rel="shortcut icon"> <link href="https://cdn.waset.org/static/plugins/bootstrap-4.2.1/css/bootstrap.min.css" rel="stylesheet"> <link href="https://cdn.waset.org/static/plugins/fontawesome/css/all.min.css" rel="stylesheet"> <link href="https://cdn.waset.org/static/css/site.css?v=150220211555" rel="stylesheet"> </head> <body> <header> <div class="container"> <nav class="navbar navbar-expand-lg navbar-light"> <a class="navbar-brand" href="https://waset.org"> <img src="https://cdn.waset.org/static/images/wasetc.png" alt="Open Science Research Excellence" title="Open Science Research Excellence" /> </a> <button class="d-block d-lg-none navbar-toggler ml-auto" type="button" data-toggle="collapse" data-target="#navbarMenu" aria-controls="navbarMenu" aria-expanded="false" aria-label="Toggle navigation"> <span class="navbar-toggler-icon"></span> </button> <div class="w-100"> <div class="d-none d-lg-flex flex-row-reverse"> <form method="get" action="https://waset.org/search" class="form-inline my-2 my-lg-0"> <input class="form-control mr-sm-2" type="search" placeholder="Search Conferences" value="Mazin Alqhazo" name="q" aria-label="Search"> <button class="btn btn-light my-2 my-sm-0" type="submit"><i class="fas fa-search"></i></button> </form> </div> <div class="collapse navbar-collapse mt-1" id="navbarMenu"> <ul class="navbar-nav ml-auto align-items-center" id="mainNavMenu"> <li class="nav-item"> <a class="nav-link" href="https://waset.org/conferences" title="Conferences in 2024/2025/2026">Conferences</a> </li> <li class="nav-item"> <a class="nav-link" href="https://waset.org/disciplines" title="Disciplines">Disciplines</a> </li> <li class="nav-item"> <a class="nav-link" href="https://waset.org/committees" rel="nofollow">Committees</a> </li> <li class="nav-item dropdown"> <a class="nav-link dropdown-toggle" href="#" id="navbarDropdownPublications" role="button" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false"> Publications </a> <div class="dropdown-menu" aria-labelledby="navbarDropdownPublications"> <a class="dropdown-item" href="https://publications.waset.org/abstracts">Abstracts</a> <a class="dropdown-item" href="https://publications.waset.org">Periodicals</a> <a class="dropdown-item" href="https://publications.waset.org/archive">Archive</a> </div> </li> <li class="nav-item"> <a class="nav-link" href="https://waset.org/page/support" title="Support">Support</a> </li> </ul> </div> </div> </nav> </div> </header> <main> <div class="container mt-4"> <div class="row"> <div class="col-md-9 mx-auto"> <form method="get" action="https://publications.waset.org/abstracts/search"> <div id="custom-search-input"> <div class="input-group"> <i class="fas fa-search"></i> <input type="text" class="search-query" name="q" placeholder="Author, Title, Abstract, Keywords" value="Mazin Alqhazo"> <input type="submit" class="btn_search" value="Search"> </div> </div> </form> </div> </div> <div class="row mt-3"> <div class="col-sm-3"> <div class="card"> <div class="card-body"><strong>Commenced</strong> in January 2007</div> </div> </div> <div class="col-sm-3"> <div class="card"> <div class="card-body"><strong>Frequency:</strong> Monthly</div> </div> </div> <div class="col-sm-3"> <div class="card"> <div class="card-body"><strong>Edition:</strong> International</div> </div> </div> <div class="col-sm-3"> <div class="card"> <div class="card-body"><strong>Paper Count:</strong> 8</div> </div> </div> </div> <h1 class="mt-3 mb-3 text-center" style="font-size:1.6rem;">Search results for: Mazin Alqhazo</h1> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">8</span> Dopamine and Serotonin Levels in Blood Samples of Jordanian Children Who Stutter</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Mazin%20Alqhazo">Mazin Alqhazo</a>, <a href="https://publications.waset.org/abstracts/search?q=Ayat%20Bani%20Rashaid"> Ayat Bani Rashaid</a> </p> <p class="card-text"><strong>Abstract:</strong></p> This study examines the levels of dopamine and serotonin in blood samples of children who stutter compared with normal fluent speakers. Blood specimens from 50 children who stutter (6 females, 44 males) and 50 normal children matched age and gender were collected for the purpose of the current study. The concentrations of dopamine and serotonin were measured using the 1100 series high-performance liquid chromatography coupled with ultraviolet detector instrument (HPLC-UV). It was revealed that dopamine level in the blood samples of stuttering group and fluent group was not significant (P = 0.769), whereas the level of serotonin was significantly higher in the blood samples of stuttering group than the blood samples of fluent normal group (P = 0.015). It is concluded that serotonin blockers could be used in future studies to evaluate its role as a medication for the treatment of stuttering. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=dopamine" title="dopamine">dopamine</a>, <a href="https://publications.waset.org/abstracts/search?q=serotonin" title=" serotonin"> serotonin</a>, <a href="https://publications.waset.org/abstracts/search?q=stuttering" title=" stuttering"> stuttering</a>, <a href="https://publications.waset.org/abstracts/search?q=fluent%20speakers" title=" fluent speakers"> fluent speakers</a> </p> <a href="https://publications.waset.org/abstracts/112649/dopamine-and-serotonin-levels-in-blood-samples-of-jordanian-children-who-stutter" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/112649.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">160</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">7</span> Underivatized Amino Acid Analyses Using Liquid Chromatography-Tandem Mass Spectrometry in Scalp Hair of Children with Autism Spectrum Disorder</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Ayat%20Bani%20Rashaid">Ayat Bani Rashaid</a>, <a href="https://publications.waset.org/abstracts/search?q=Zain%20Khasawneh"> Zain Khasawneh</a>, <a href="https://publications.waset.org/abstracts/search?q=Mazin%20Alqhazo"> Mazin Alqhazo</a>, <a href="https://publications.waset.org/abstracts/search?q=Shreen%20Nusair"> Shreen Nusair</a>, <a href="https://publications.waset.org/abstracts/search?q=Mohammad%20El-Khateeb"> Mohammad El-Khateeb</a>, <a href="https://publications.waset.org/abstracts/search?q=Mahmoud%20Bashtawi"> Mahmoud Bashtawi</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Autism Spectrum disorder (ASD) is a psychiatric disorder with unknown etiology that mainly affects children in the first three years of life. Alterations of amino acid levels are believed to contribute to ASD. The levels of six essential amino acids (methionine, histidine, valine, leucine, threonine, and phenylalanine), five conditional amino acids (proline, tyrosine, glutamine, cysteine, and cystine), and five non-essential amino acids (asparagine, aspartic acid, alanine, serine, and glutamic acid) in hair samples of children with ASD (n = 25) were analyzed and compared to corresponding levels in healthy age-matched controls (n = 25). The results showed that the levels of methionine, alanine, and asparagine were significantly lower in the hair samples of ASD group compared to those of the control group (p ≤ 0.05). However, the levels of glutamic acid were significantly higher in the ASD group than the control group (p ≤ 0.05). The current findings could contribute towards further understanding of ASD etiology and provide specialists with a hair amino acid profile utilized as a biomarker for early diagnosis of ASD. Such biomarkers could participate in future developments of therapies that reduce ASD-related symptoms. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=autism%20spectrum%20disorder" title="autism spectrum disorder">autism spectrum disorder</a>, <a href="https://publications.waset.org/abstracts/search?q=amino%20acids" title=" amino acids"> amino acids</a>, <a href="https://publications.waset.org/abstracts/search?q=liquid%20chromatography-tandem%20mass%20spectrometry" title=" liquid chromatography-tandem mass spectrometry"> liquid chromatography-tandem mass spectrometry</a>, <a href="https://publications.waset.org/abstracts/search?q=human%20hair" title=" human hair"> human hair</a> </p> <a href="https://publications.waset.org/abstracts/128805/underivatized-amino-acid-analyses-using-liquid-chromatography-tandem-mass-spectrometry-in-scalp-hair-of-children-with-autism-spectrum-disorder" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/128805.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">138</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">6</span> A Green Approach towards the Production of CaCO₃ Scaffolds for Bone Tissue Engineering</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Sudhir%20Kumar%20Sharma">Sudhir Kumar Sharma</a>, <a href="https://publications.waset.org/abstracts/search?q=Abiy%20D.%20Woldetsadik"> Abiy D. Woldetsadik</a>, <a href="https://publications.waset.org/abstracts/search?q=Mazin%20Magzoub"> Mazin Magzoub</a>, <a href="https://publications.waset.org/abstracts/search?q=Ramesh%20Jagannathan"> Ramesh Jagannathan</a> </p> <p class="card-text"><strong>Abstract:</strong></p> It is well known that bioactive ceramics exhibit specific biological affinities, especially in the area of tissue re-generation. In this context, we report the development of an eminently scalable, novel, supercritical CO₂ based process for the fabrication of hierarchically porous 'soft' CaCO₃ scaffolds. Porosity at the macro, micro, and nanoscales was obtained through process optimization of the so-called 'coffee-ring effect'. Exposure of these CaCO₃ scaffolds to monocytic THP-1 cells yielded negligible levels of tumor necrosis factor-alpha (TNF-α) thereby confirming the lack of immunogenicity of the scaffolds. ECM protein treatment of the scaffolds showed enhanced adsorption comparable to standard control such as glass. In vitro studies using osteoblast precursor cell line, MC3T3, also demonstrated the cytocompatibility of hierarchical porous CaCO₃ scaffolds. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=supercritical%20CO2" title="supercritical CO2">supercritical CO2</a>, <a href="https://publications.waset.org/abstracts/search?q=CaCO3%20scaffolds" title=" CaCO3 scaffolds"> CaCO3 scaffolds</a>, <a href="https://publications.waset.org/abstracts/search?q=coffee-ring%20effect" title=" coffee-ring effect"> coffee-ring effect</a>, <a href="https://publications.waset.org/abstracts/search?q=ECM%20proteins" title=" ECM proteins"> ECM proteins</a> </p> <a href="https://publications.waset.org/abstracts/72952/a-green-approach-towards-the-production-of-caco3-scaffolds-for-bone-tissue-engineering" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/72952.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">303</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">5</span> Modeling and Simulation Analysis and Design of Components of the Microgrid Prototype System</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Draou%20Azeddine">Draou Azeddine</a>, <a href="https://publications.waset.org/abstracts/search?q=Mazin%20Alahmadi"> Mazin Alahmadi</a>, <a href="https://publications.waset.org/abstracts/search?q=Abdulrahmane%20Alkassem"> Abdulrahmane Alkassem</a>, <a href="https://publications.waset.org/abstracts/search?q=Alamri%20Abdullah"> Alamri Abdullah</a> </p> <p class="card-text"><strong>Abstract:</strong></p> The demand for electric power in Saudi Arabia is steadily increasing with economic growth. More power plants should be installed to increase generation capacity and meet demand. Electricity in Saudi Arabia is mainly dependent on fossil fuels, which are a major problem as they deplete natural resources and increase CO₂ emissions. In this research work, performance and techno-economic analyzes are conducted to evaluate a microgrid system based on hybrid PV/wind diesel power sources as a stand-alone system for rural electrification in Saudi Arabia. The total power flow, maximum power point tracking (MPPT) efficiency, effectiveness of the proposed control strategy, and total harmonic distortion (THD) are analyzed in MATLAB/Simulink environment. Various simulation studies have been carried out under different irradiation conditions. The sizing, optimization, and economic feasibility analysis were performed using Homer energy software. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=WIND" title="WIND">WIND</a>, <a href="https://publications.waset.org/abstracts/search?q=solar" title=" solar"> solar</a>, <a href="https://publications.waset.org/abstracts/search?q=microgrid" title=" microgrid"> microgrid</a>, <a href="https://publications.waset.org/abstracts/search?q=energy" title=" energy"> energy</a> </p> <a href="https://publications.waset.org/abstracts/156602/modeling-and-simulation-analysis-and-design-of-components-of-the-microgrid-prototype-system" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/156602.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">108</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4</span> Bond Strength of Concrete Beams Reinforced with Steel Plates: Experimental Study</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Mazin%20Mohammed%20Sarhan%20Sarhan">Mazin Mohammed Sarhan Sarhan</a> </p> <p class="card-text"><strong>Abstract:</strong></p> This paper presents an experimental study of the bond behaviour of confined concrete beams reinforced with a chequer steel plate or a deformed steel bar by using the beam-bending pullout test. A total of three beams of 225 mm width, 300 mm height, and 600 mm length were cast and tested. All the beams had the same details of compression reinforcement and stirrups; two plain steel bars of 10 mm diameter (R10) were used for the compression reinforcement, and plain steel bars (R10) at a distance of 80 mm centre to centre were used for the stirrups. The first beam was reinforced with a deformed steel bar while the remaining beams were reinforced with horizontal or vertical chequer steel plates. The results showed no significant difference in the bond force between the beams reinforced with a deformed steel bar or a horizontal steel plate. The beam reinforced with a vertical steel plate considerably presented a bond force higher than the beam reinforced with a horizontal steel plate. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=bond" title="bond">bond</a>, <a href="https://publications.waset.org/abstracts/search?q=pullout" title=" pullout"> pullout</a>, <a href="https://publications.waset.org/abstracts/search?q=reinforced%20concrete" title=" reinforced concrete"> reinforced concrete</a>, <a href="https://publications.waset.org/abstracts/search?q=steel%20plate" title=" steel plate"> steel plate</a> </p> <a href="https://publications.waset.org/abstracts/114586/bond-strength-of-concrete-beams-reinforced-with-steel-plates-experimental-study" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/114586.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">131</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">3</span> Structural Performance of Concrete Beams Reinforced with Steel Plates: Experimental Study</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Mazin%20Mohammed%20S.%20Sarhan">Mazin Mohammed S. Sarhan</a> </p> <p class="card-text"><strong>Abstract:</strong></p> This study presents the performance of concrete beams reinforced with steel plates as a technique of reinforcement. Three reinforced concrete beams with the dimensions of 200 mm x 300 mm x 4000 mm (width x height x length, respectively) were experimentally investigated under flexural loading. The deformed steel bars were used as the main reinforcement for the first beam. A steel plate placed horizontally was used as the main reinforcement for the second beam. The bond between the steel plate and the surrounding concrete was enhanced by using steel bolts (with a diameter of 20 mm and length of 100 mm) welded to the steel plate at a regular distance of 200 mm. A pair of steel plates placed vertically was used as the main reinforcement for the third beam. The bond between the pair steel plates and the surrounding concrete was enhanced by using 4 equal steel angles (with the dimensions of 75 mm x 75 mm and the thickness of 8 mm) for each vertical steel plate. Two steel angles were welded at each end of the steel plate. The outcomes revealed that the bending stiffness of the beams reinforced with steel plates was higher than that reinforced with deformed steel bars. Also, the flexural ductile behavior of the second beam was much higher than the rest beams. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=concrete%20beam" title="concrete beam">concrete beam</a>, <a href="https://publications.waset.org/abstracts/search?q=deflection" title=" deflection"> deflection</a>, <a href="https://publications.waset.org/abstracts/search?q=ductility" title=" ductility"> ductility</a>, <a href="https://publications.waset.org/abstracts/search?q=plate" title=" plate"> plate</a> </p> <a href="https://publications.waset.org/abstracts/114584/structural-performance-of-concrete-beams-reinforced-with-steel-plates-experimental-study" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/114584.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">160</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">2</span> Solid-State Luminescence of Fluorenone Grafted onto Cellulose Aldehyde Backbone Using Different Organic Amine Spacers</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Isam%20M.%20Arafa">Isam M. Arafa</a>, <a href="https://publications.waset.org/abstracts/search?q=Mazin%20Y.%20Shatnawi"> Mazin Y. Shatnawi</a>, <a href="https://publications.waset.org/abstracts/search?q=Yaser%20A.%20Yousef"> Yaser A. Yousef</a>, <a href="https://publications.waset.org/abstracts/search?q=Batool%20Zaid%20Al-Momani"> Batool Zaid Al-Momani</a> </p> <p class="card-text"><strong>Abstract:</strong></p> The present work describes the preparation, characterization, and luminescence of a series of fluorenone (FL) based luminophores grafted onto modified cellulose microfibers. The FL is condensed onto cellulose aldehyde using three diamine spacers (H₂N-NH₂, H₂N(CH₂)₂NH₂ and H₂N(CH₂)₃NH₂) to afford Cell=Spacer=FL. The obtained products were characterized by spectroscopic (FT-IR, UV–Vis), thermal gravimetric analysis (TGA), and microscopic (Optical, SEM) techniques. The UV-Vis spectra of the FL=N(CH₂)ₓNH₂ (x = 0, 2, 3) moieties show that they are transparent in the 375- 800 nm region while they exhibit intense absorption band below 350 nm attributed to n-π* and π-π* transitions. The solid-state photoluminescence (PLs-s) of the cold-pressed pellets of the FL=N(CH₂)ₓNH₂ and Cell=Spacer=FL placed in a quartz cuvette show strong emission in the 500-550 nm region upon irradiation with Xe lamp light (λex = 320 nm). The PLs-s green emission of the grafted Cell=Spacer=FL was evaluated relative to that of the FL-based precursor. These grafted conjugated products have the potential to be used as analyte sensors for typical nitroaromatics/aromatic amines and be further extended to immunoassay studies for aromatic amino acids such as phenylalanine and histidine. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=luminescence" title="luminescence">luminescence</a>, <a href="https://publications.waset.org/abstracts/search?q=cellulose" title=" cellulose"> cellulose</a>, <a href="https://publications.waset.org/abstracts/search?q=fluorenone" title=" fluorenone"> fluorenone</a>, <a href="https://publications.waset.org/abstracts/search?q=grafting" title=" grafting"> grafting</a>, <a href="https://publications.waset.org/abstracts/search?q=solid%20state" title=" solid state"> solid state</a> </p> <a href="https://publications.waset.org/abstracts/176946/solid-state-luminescence-of-fluorenone-grafted-onto-cellulose-aldehyde-backbone-using-different-organic-amine-spacers" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/176946.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">72</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">1</span> In silico Analysis of a Causative Mutation in Cadherin-23 Gene Identified in an Omani Family with Hearing Loss</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Mohammed%20N.%20Al%20Kindi">Mohammed N. Al Kindi</a>, <a href="https://publications.waset.org/abstracts/search?q=Mazin%20Al%20Khabouri"> Mazin Al Khabouri</a>, <a href="https://publications.waset.org/abstracts/search?q=Khalsa%20Al%20Lamki"> Khalsa Al Lamki</a>, <a href="https://publications.waset.org/abstracts/search?q=Tommasso%20Pappuci"> Tommasso Pappuci</a>, <a href="https://publications.waset.org/abstracts/search?q=Giovani%20Romeo"> Giovani Romeo</a>, <a href="https://publications.waset.org/abstracts/search?q=Nadia%20Al%20Wardy"> Nadia Al Wardy</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Hereditary hearing loss is a heterogeneous group of complex disorders with an overall incidence of one in every five hundred newborns presented as syndromic and non-syndromic forms. Cadherin-related 23 (CDH23) is one of the listed deafness causative genes. CDH23 is found to be expressed in the stereocilia of hair cells and the retina photoreceptor cells. Defective CDH23 has been associated mostly with prelingual severe-to-profound sensorineural hearing loss (SNHL) in either syndromic (USH1D) or non-syndromic SNHL (DFNB12). An Omani family diagnosed clinically with severe-profound sensorineural hearing loss was genetically analysed by whole exome sequencing technique. A novel homozygous missense variant, c.A7451C (p.D2484A), in exon 53 of CDH23 was detected. One hundred and thirty control samples were analysed where all were negative for the detected variant. The variant was analysed in silico for pathogenicity verification using several mutation prediction software. The variant proved to be a pathogenic mutation and is reported for the first time in Oman and worldwide. It is concluded that in silico mutation prediction analysis might be used as a useful molecular diagnostics tool benefiting both genetic counseling and mutation verification. The aspartic acid 2484 alanine missense substitution might be the main disease-causing mutation that damages CDH23 function and could be used as a genetic hearing loss marker for this particular Omani family. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=Cdh23" title="Cdh23">Cdh23</a>, <a href="https://publications.waset.org/abstracts/search?q=d2484a" title=" d2484a"> d2484a</a>, <a href="https://publications.waset.org/abstracts/search?q=in%20silico" title=" in silico"> in silico</a>, <a href="https://publications.waset.org/abstracts/search?q=Oman" title=" Oman"> Oman</a> </p> <a href="https://publications.waset.org/abstracts/80209/in-silico-analysis-of-a-causative-mutation-in-cadherin-23-gene-identified-in-an-omani-family-with-hearing-loss" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/80209.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">216</span> </span> </div> </div> </div> </main> <footer> <div id="infolinks" class="pt-3 pb-2"> <div class="container"> <div style="background-color:#f5f5f5;" class="p-3"> <div class="row"> <div class="col-md-2"> <ul class="list-unstyled"> About <li><a href="https://waset.org/page/support">About Us</a></li> <li><a href="https://waset.org/page/support#legal-information">Legal</a></li> <li><a target="_blank" rel="nofollow" href="https://publications.waset.org/static/files/WASET-16th-foundational-anniversary.pdf">WASET celebrates its 16th foundational anniversary</a></li> </ul> </div> <div class="col-md-2"> <ul class="list-unstyled"> Account <li><a href="https://waset.org/profile">My Account</a></li> </ul> </div> <div class="col-md-2"> <ul class="list-unstyled"> Explore <li><a href="https://waset.org/disciplines">Disciplines</a></li> <li><a href="https://waset.org/conferences">Conferences</a></li> <li><a href="https://waset.org/conference-programs">Conference Program</a></li> <li><a href="https://waset.org/committees">Committees</a></li> <li><a href="https://publications.waset.org">Publications</a></li> </ul> </div> <div class="col-md-2"> <ul class="list-unstyled"> Research <li><a href="https://publications.waset.org/abstracts">Abstracts</a></li> <li><a href="https://publications.waset.org">Periodicals</a></li> <li><a href="https://publications.waset.org/archive">Archive</a></li> </ul> </div> <div class="col-md-2"> <ul class="list-unstyled"> Open Science <li><a target="_blank" rel="nofollow" href="https://publications.waset.org/static/files/Open-Science-Philosophy.pdf">Open Science Philosophy</a></li> <li><a target="_blank" rel="nofollow" href="https://publications.waset.org/static/files/Open-Science-Award.pdf">Open Science Award</a></li> <li><a target="_blank" rel="nofollow" href="https://publications.waset.org/static/files/Open-Society-Open-Science-and-Open-Innovation.pdf">Open Innovation</a></li> <li><a target="_blank" rel="nofollow" href="https://publications.waset.org/static/files/Postdoctoral-Fellowship-Award.pdf">Postdoctoral Fellowship Award</a></li> <li><a target="_blank" rel="nofollow" href="https://publications.waset.org/static/files/Scholarly-Research-Review.pdf">Scholarly Research Review</a></li> </ul> </div> <div class="col-md-2"> <ul class="list-unstyled"> Support <li><a href="https://waset.org/page/support">Support</a></li> <li><a href="https://waset.org/profile/messages/create">Contact Us</a></li> <li><a href="https://waset.org/profile/messages/create">Report Abuse</a></li> </ul> </div> </div> </div> </div> </div> <div class="container text-center"> <hr style="margin-top:0;margin-bottom:.3rem;"> <a href="https://creativecommons.org/licenses/by/4.0/" target="_blank" class="text-muted small">Creative Commons Attribution 4.0 International License</a> <div id="copy" class="mt-2">© 2024 World Academy of Science, Engineering and Technology</div> </div> </footer> <a href="javascript:" id="return-to-top"><i class="fas fa-arrow-up"></i></a> <div class="modal" id="modal-template"> <div class="modal-dialog"> <div class="modal-content"> <div class="row m-0 mt-1"> <div class="col-md-12"> <button type="button" class="close" data-dismiss="modal" aria-label="Close"><span aria-hidden="true">×</span></button> </div> </div> <div class="modal-body"></div> </div> </div> </div> <script src="https://cdn.waset.org/static/plugins/jquery-3.3.1.min.js"></script> <script src="https://cdn.waset.org/static/plugins/bootstrap-4.2.1/js/bootstrap.bundle.min.js"></script> <script src="https://cdn.waset.org/static/js/site.js?v=150220211556"></script> <script> jQuery(document).ready(function() { /*jQuery.get("https://publications.waset.org/xhr/user-menu", function (response) { jQuery('#mainNavMenu').append(response); });*/ jQuery.get({ url: "https://publications.waset.org/xhr/user-menu", cache: false }).then(function(response){ jQuery('#mainNavMenu').append(response); }); }); </script> </body> </html>