نتایج جستجو برای: pms2

تعداد نتایج: 505  

Journal: :The Journal of Experimental Medicine 2002
Carol E. Schrader Joycelyn Vardo Janet Stavnezer

B cells from mice deficient in mismatch repair (MMR) proteins show decreased ability to undergo class switch recombination in vitro and in vivo. The deficit is not accompanied by any reduction in cell viability or alterations in the cell cycle in B cells cultured in vitro. To assess the role of MMR in switching we examined the nucleotide sequences of Smicro-Sgamma3 recombination junctions in sp...

متن کامل
Journal: :Oncology reports 2007
Frank Köster Andreas Schröer Dorothea Fischer Anja-Kathrin Horn Klaus Diedrich Michael Friedrich

Mutations in genes of the DNA mismatch repair system (MMR) are strongly linked to the development of hereditary non-polyposis colorectal cancer and play a significant role in sporadic cancer too. Besides the repair of chromosomal mismatches produced during replication, the MMR is the linkage of DNA mismatches to cell cycle control. Proteins of the MMR are necessary for the induction of apoptosi...

متن کامل
Journal: :Archives of Iranian medicine 2017
Ladan Goshayeshi Alireza Khooiee Kamran Ghaffarzadegan Mahla Rahmani Khorram Faraz Bishehsari Benyamin Hoseini Kambiz Akhavan Rezayat Abbas Esmaeilzadeh Hooman Mosannen Mozaffari Omid Ghanayee S Lari Ali Bahari Abolghasem Allahyari Alireza Bari Azita Ganji Lena Goshayeshi Farnood Rajabzadeh Jaleh Esmaeili

INTRODUCTION Lynch Syndrome (LS) is a genetically inherited autosomal disorder that increases the risk of many types of cancer, especially colorectal cancer (CRC). Identifying these subjects improves morbidity and mortality. We aimed to assess the prevalence of LS with both clinical criteria and universal strategy in Mashhad, Iran. METHODS In this retrospective study, we screened 322 patients...

متن کامل
Journal: :Proceedings of the National Academy of Sciences of the United States of America 2017
Jochen Genschel Lyudmila Y Kadyrova Ravi R Iyer Basanta K Dahal Farid A Kadyrov Paul Modrich

Eukaryotic MutLα (mammalian MLH1-PMS2 heterodimer; MLH1-PMS1 in yeast) functions in early steps of mismatch repair as a latent endonuclease that requires a mismatch, MutSα/β, and DNA-loaded proliferating cell nuclear antigen (PCNA) for activation. We show here that human PCNA and MutLα interact specifically but weakly in solution to form a complex of approximately 1:1 stoichiometry that depends...

متن کامل
Journal: :Journal of Clinical Oncology 2018

متن کامل
2010
Wenche Sjursen Bjørn Ivar Haukanes Eli Marie Grindedal Harald Aarset Astrid Stormorken Lars F Engebretsen Christoffer Jonsrud Inga Bjørnevoll Per Arne Andresen Sarah Ariansen Liss Anne S Lavik Bodil Gilde Inger Marie Bowitz-Lothe Lovise Mæhle Pål Møller

BACKGROUND Reported prevalence, penetrance and expression of deleterious mutations in the mismatch repair (MMR) genes, MLH1, MSH2, MSH6 and PMS2, may reflect differences in the clinical criteria used to select families for DNA testing. The authors have previously reported that clinical criteria are not sensitive enough to identify MMR mutation carriers among incident colorectal cancer cases. ...

متن کامل
ژورنال: :مجله دانشگاه علوم پزشکی کردستان 0
مهدی منتظر حقیقی mahdi montazer haghighi phd in molecular genetic, gastroenterology and liver diseases research center, shahid beheshti university of medical sciences, tehran, iran.دکتری ژنتیک مولکولی، مرکز تحقیقات بیماری های گوارش و کبد، دانشگاه علوم پزشکی شهید بهشتی، تهران، ایران محمد یعقوب طالقانی mohammad yaghoob taleghani student of master of molecular and cellular biology, gastroenterology and liver diseases research center, shahid beheshti university of medical sciences, tehran, iran.دانشجوی کارشناسی ارشد، زیست شناسی سلولی و مولکولی، مرکز تحقیقات بیماری های گوارش و کبد ، دانشگاه علوم پزشکی شهید بهشتی، تهران، ایران زهرا اکبری zahra akbari master of molecular and cellular biology, gastroenterology and liver diseases research center, shahid beheshti university of medical sciences, tehran, iran.کارشناس ارشد زیست شناسی سلولی و مولکولی، مرکز تحقیقات بیماری های گوارش و کبد ، دانشگاه علوم پزشکی شهید بهشتی، تهران، ایران مائده علیدادی maedeh alidadi student of master of molecular and cellular biology, basic and molecular epidemiology of gastrointestinal disorders research center, shahid beheshti university of medical sciences, tehran, iran.دانشجوی کارشناسی ارشد، زیست شناسی سلولی و مولکولی، مرکز تحقیقات علوم پایه و اپیدمیولوژی بیماری های دستگاه گوارش دانشگاه علوم پزشکی شهید بهشتی، تهران، ایران احسان ناظم الحسینی مجرد ehsan nazemalhosseini mojarad phd by research, gastroenterology and liver diseases research center, shahid beheshti university of medical sciences, tehran, iran.دانشجوی دکتری تخصصی پژوهشی، زیست شناسی سلولی و مولکولی، مرکز تحقیقات بیماری های گوارش و کبد، دانشگاه علوم پزشکی شهید بهشتی، تهران، ایران مهسا مولایی mahsa molaei pathology dept., gastroenterology and liver diseases research center, shahid beheshti university of medical sciences, tehran, iran.گروه پاتولوژی، زیست شناسی سلولی و مولکولی، مرکز تحقیقات بیماری های گوارش و کبد، دانشگاه علوم پزشکی شهید بهشتی، تهران، ایران محمر رضا زالی

چکیده زمینه و هدف: سرطان ارثی کلون و رکتوم (hnpcc) یک سندرم اتوزومال غالب است. معمولا در این سندروم پیشرفت سرطان در سنین جوانی افراد، اغلب 40 تا 50 سالگی، خود را نشان می دهد. موتاسیون در ژن های مسوول ترمیم ژنوم می تواند سبب این بیماری شود. یکی از ژن های درگیر در این بیماری ژن pms2 می باشد. در این مقاله، بیماری معرفی می شود که موتاسیون ژرم لاین جدیدی در ژن pms2 دارا می باشد. هدف از این مطالعه بر...

متن کامل
Journal: :Clinical cancer research : an official journal of the American Association for Cancer Research 2004
Andrea E de Jong Marjo van Puijenbroek Yvonne Hendriks Carli Tops Juul Wijnen Margreet G E M Ausems Hanne Meijers-Heijboer Anja Wagner Theo A M van Os Annette H J T Bröcker-Vriends Hans F A Vasen Hans Morreau

PURPOSE Immunohistochemistry (IHC) and microsatellite instability (MSI) analysis can be used to identify patients with a possible DNA mismatch repair defect [hereditary nonpolyposis colorectal carcinoma (HNPCC)]. The Bethesda criteria have been proposed to select families for determination of MSI. The aims of this study were to assess the yield of MSI analysis in families suspected for HNPCC, t...

متن کامل
2017
Giulia Girelli Zubani Marija Zivojnovic Annie De Smet Olivier Albagli-Curiel François Huetz Jean-Claude Weill Claude-Agnès Reynaud Sébastien Storck

During somatic hypermutation (SHM) of immunoglobulin genes, uracils introduced by activation-induced cytidine deaminase are processed by uracil-DNA glycosylase (UNG) and mismatch repair (MMR) pathways to generate mutations at G-C and A-T base pairs, respectively. Paradoxically, the MMR-nicking complex Pms2/Mlh1 is apparently dispensable for A-T mutagenesis. Thus, how detection of U:G mismatches...

متن کامل
Journal: :Cancer research 2009
James Mueller Isabella Gazzoli Prathap Bandipalliam Judy E Garber Sapna Syngal Richard D Kolodner

An accurate algorithm is essential for effective molecular diagnosis of hereditary colorectal cancer (CRC). Here, we have extended the analysis of 71 CRC cases suspected to be Lynch syndrome cases for MSH2, MLH1, MSH6, and PMS2 gene defects. All cases were screened for mutations in MSH2, MLH1, and MSH6, and all cases where tumors were available were screened for microsatellite instability (MSI)...

متن کامل

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید

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"; } -->