نتایج جستجو برای: smarcal1

تعداد نتایج: 96  

2014
George A. Kassavetis James T. Kadonaga

HARP (SMARCAL1, MARCAL1) is an annealing helicase that functions in the repair and restart of damaged DNA replication forks through its DNA branch migration and replication fork regression activities. HARP is conserved among metazoans. HARP from invertebrates differs by the absence of one of the two HARP-specific domain repeats found in vertebrates. The annealing helicase and branch migration a...

2014
Jinhua Quan Timur Yusufzai

The HepA-related protein (HARP/SMARCAL1) is an ATP-dependent annealing helicase that is capable of rewinding DNA structures that are stably unwound due to binding of the single-stranded DNA (ssDNA)-binding protein Replication Protein A (RPA). HARP has been implicated in maintaining genome integrity through its role in DNA replication and repair, two processes that generate RPA-coated ssDNA. In ...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2017
Alireza Baradaran-Heravi Jürgen Niesser Aruna D Balgi Kunho Choi Carla Zimmerman Andrew P South Hilary J Anderson Natalie C Strynadka Marcel B Bally Michel Roberge

Nonsense mutations underlie about 10% of rare genetic disease cases. They introduce a premature termination codon (PTC) and prevent the formation of full-length protein. Pharmaceutical gentamicin, a mixture of several related aminoglycosides, is a frequently used antibiotic in humans that can induce PTC readthrough and suppress nonsense mutations at high concentrations. However, testing of gent...

Journal: :Vojnosanitetski Pregled 2023

Introduction. Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive multisystem disorder associated with biallelic mutations of the SMAR-CAL1 gene. Vascular central nervous system complications in form Moyamoya syndrome (MMS) have been reported as comorbidity nearly half patients clinically presenting severe migraine-like headaches, transient ischemic attacks (TIA), and or hemor...

2016
Hidetsugu Nakazato Hideyuki Takeshima Takayoshi Kishino Emi Kubo Naoko Hattori Takeshi Nakajima Satoshi Yamashita Hiroyasu Igaki Yuji Tachimori Yukio Kuniyoshi Toshikazu Ushijima Ajay Goel

The SWI/SNF chromatin remodeling complex is frequently inactivated by somatic mutations of its various components in various types of cancers, and also by aberrant DNA methylation. However, its somatic mutations and aberrant methylation in esophageal squamous cell carcinomas (ESCCs) have not been fully analyzed. In this study, we aimed to clarify in ESCC, what components of the SWI/SNF complex ...

2004
Z U Borochowitz D Scheffer V Adir N Dagoneau

O steochondrodysplasia is a heterogeneous group of conditions caused by impaired development of osseous skeleton. Within this group, spondylo-epimetaphyseal dysplasia (SEMD) represents a subgroup which includes a number of conditions associated with vertebral, epiphyseal, and metaphyseal anomalies. The International Classification recognises at least 15 distinct entities within this group as de...

Journal: :Clinical journal of the American Society of Nephrology : CJASN 2018
Jillian K Warejko Weizhen Tan Ankana Daga David Schapiro Jennifer A Lawson Shirlee Shril Svjetlana Lovric Shazia Ashraf Jia Rao Tobias Hermle Tilman Jobst-Schwan Eugen Widmeier Amar J Majmundar Ronen Schneider Heon Yung Gee J Magdalena Schmidt Asaf Vivante Amelie T van der Ven Hadas Ityel Jing Chen Carolin E Sadowski Stefan Kohl Werner L Pabst Makiko Nakayama Michael J G Somers Nancy M Rodig Ghaleb Daouk Michelle Baum Deborah R Stein Michael A Ferguson Avram Z Traum Neveen A Soliman Jameela A Kari Sherif El Desoky Hanan Fathy Martin Zenker Sevcan A Bakkaloglu Dominik Müller Aytul Noyan Fatih Ozaltin Melissa A Cadnapaphornchai Seema Hashmi Jeffrey Hopcian Jeffrey B Kopp Nadine Benador Detlef Bockenhauer Radovan Bogdanovic Nataša Stajić Gil Chernin Robert Ettenger Henry Fehrenbach Markus Kemper Reyner Loza Munarriz Ludmila Podracka Rainer Büscher Erkin Serdaroglu Velibor Tasic Shrikant Mane Richard P Lifton Daniela A Braun Friedhelm Hildebrandt

BACKGROUND AND OBJECTIVES Steroid-resistant nephrotic syndrome overwhelmingly progresses to ESRD. More than 30 monogenic genes have been identified to cause steroid-resistant nephrotic syndrome. We previously detected causative mutations using targeted panel sequencing in 30% of patients with steroid-resistant nephrotic syndrome. Panel sequencing has a number of limitations when compared with w...

Journal: :Human & experimental toxicology 2007
A Elmi Zh Sadeghi S Elmi B Daraei M Ghazi-Khansari

Paraquat (PQ) is a highly toxic herbicide that is used in most of the countries without restriction. The cytotoxic effect of PQ is mediated by radicals, which are the products of PQ reduction in cells. The anti-oxidative action of captopril, an angiotensin-converting enzyme inhibitor, appears to be through its ability to scavenge reactive oxygen species. In this study, the heptoprotective effec...

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function paginate(evt) { url=/search_year_filter/ var term=document.getElementById("search_meta_data").dataset.term pg=parseInt(evt.target.text) var data={ "year":filter_year, "term":term, "pgn":pg } filtered_res=post_and_fetch(data,url) window.scrollTo(0,0); } function update_search_meta(search_meta) { meta_place=document.getElementById("search_meta_data") term=search_meta.term active_pgn=search_meta.pgn num_res=search_meta.num_res num_pages=search_meta.num_pages year=search_meta.year meta_place.dataset.term=term meta_place.dataset.page=active_pgn meta_place.dataset.num_res=num_res meta_place.dataset.num_pages=num_pages meta_place.dataset.year=year document.getElementById("num_result_place").innerHTML=num_res if (year !== "unfilter"){ document.getElementById("year_filter_label").style="display:inline;" document.getElementById("year_filter_place").innerHTML=year }else { document.getElementById("year_filter_label").style="display:none;" document.getElementById("year_filter_place").innerHTML="" } } function update_pagination() { search_meta_place=document.getElementById('search_meta_data') num_pages=search_meta_place.dataset.num_pages; active_pgn=parseInt(search_meta_place.dataset.page); document.getElementById("pgn-ul").innerHTML=""; pgn_html=""; for (i = 1; i <= num_pages; i++){ if (i===active_pgn){ actv="active" }else {actv=""} pgn_li="
  • " +i+ "
  • "; pgn_html+=pgn_li; } document.getElementById("pgn-ul").innerHTML=pgn_html var pgn_links = document.querySelectorAll('.mypgn'); pgn_links.forEach(function(pgn_link) { pgn_link.addEventListener('click', paginate) }) } function post_and_fetch(data,url) { showLoading() xhr = new XMLHttpRequest(); xhr.open('POST', url, true); xhr.setRequestHeader('Content-Type', 'application/json; charset=UTF-8'); xhr.onreadystatechange = function() { if (xhr.readyState === 4 && xhr.status === 200) { var resp = xhr.responseText; resp_json=JSON.parse(resp) resp_place = document.getElementById("search_result_div") resp_place.innerHTML = resp_json['results'] search_meta = resp_json['meta'] update_search_meta(search_meta) update_pagination() hideLoading() } }; xhr.send(JSON.stringify(data)); } function unfilter() { url=/search_year_filter/ var term=document.getElementById("search_meta_data").dataset.term var data={ "year":"unfilter", "term":term, "pgn":1 } filtered_res=post_and_fetch(data,url) } function deactivate_all_bars(){ var yrchart = document.querySelectorAll('.ct-bar'); yrchart.forEach(function(bar) { bar.dataset.active = false bar.style = "stroke:#71a3c5;" }) } year_chart.on("created", function() { var yrchart = document.querySelectorAll('.ct-bar'); yrchart.forEach(function(check) { check.addEventListener('click', checkIndex); }) }); function checkIndex(event) { var yrchart = document.querySelectorAll('.ct-bar'); var year_bar = event.target if (year_bar.dataset.active == "true") { unfilter_res = unfilter() year_bar.dataset.active = false year_bar.style = "stroke:#1d2b3699;" } else { deactivate_all_bars() year_bar.dataset.active = true year_bar.style = "stroke:#e56f6f;" filter_year = chart_data['labels'][Array.from(yrchart).indexOf(year_bar)] url=/search_year_filter/ var term=document.getElementById("search_meta_data").dataset.term var data={ "year":filter_year, "term":term, "pgn":1 } filtered_res=post_and_fetch(data,url) } } function showLoading() { document.getElementById("loading").style.display = "block"; setTimeout(hideLoading, 10000); // 10 seconds } function hideLoading() { document.getElementById("loading").style.display = "none"; } -->