نتایج جستجو برای: uromodulin

تعداد نتایج: 340  

2012
Karl Lhotta Sian E. Piret Reinhard Kramar Rajesh V. Thakker Gere Sunder-Plassmann Peter Kotanko

BACKGROUND/AIMS Uromodulin-associated kidney disease (UAKD) is caused by uromodulin mutations and leads to end-stage renal disease. Our objective was to examine the epidemiology of UAKD. METHODS Data from all UAKD families in Austria were collected. Patients included in the Austrian Dialysis and Transplantation Registry (OEDTR) with unclear diagnoses or genetic diseases were asked whether the...

متن کامل
2013
Elisabeth Kemter Petra Prückl Birgit Rathkolb Kateryna Micklich Thure Adler Lore Becker Johannes Beckers Dirk H. Busch Alexander A. Götz Wolfgang Hans Marion Horsch Boris Ivandic Martin Klingenspor Thomas Klopstock Jan Rozman Anja Schrewe Holger Schulz Helmut Fuchs Valérie Gailus-Durner Martin Hrabé de Angelis Eckhard Wolf Bernhard Aigner

Uromodulin-associated kidney disease (UAKD) summarizes different clinical features of an autosomal dominant heritable disease syndrome in humans with a proven uromodulin (UMOD) mutation involved. It is often characterized by hyperuricemia, gout, alteration of urine concentrating ability, as well as a variable rate of disease progression inconstantly leading to renal failure and histological alt...

متن کامل
Journal: :Clinical Kidney Journal 2015

متن کامل
Journal: :The Journal of Cell Biology 1994
F López-Casillas H M Payne J L Andres J Massagué

Betaglycan, also known as the TGF-beta type III receptor, is a membrane-anchored proteoglycan that presents TGF-beta to the type II signaling receptor, a transmembrane serine/threonine kinase. The betaglycan extracellular region, which can be shed by cells into the medium, contains a NH2-terminal domain related to endoglin and a COOH-terminal domain related to uromodulin, sperm receptors Zp2 an...

متن کامل
2003
LUANNE COX Keith E. Murphy George E. Lees James E. Womack James E. Derr Ann B. Kier Geoffrey M. Kapler Melissa Luanne Cox

Identification of a Mutation in COL4A5 Causative for X-linked Alport Syndrome in the Domestic Dog and Analysis of Gene Expression in the Kidneys of Affected and Nonaffected Siblings. (December 2003) Melissa Luanne Cox, B.Sc., Dalhousie University Chair of Advisory Committee: Dr. Keith E. Murphy The domestic dog, Canis lupus familiaris, plays many roles in the lives of humans. Additionally, the ...

متن کامل
2014
Vittoria Matafora Laura Zagato Mara Ferrandi Isabella Molinari Gianpaolo Zerbini Nunzia Casamassima Chiara Lanzani Simona Delli Carpini Francesco Trepiccione Paolo Manunta Angela Bachi Giovambattista Capasso

Hypertension is a prevalent disorder in the world representing one of the major risk factors for heart attack and stroke. These risks are increased in salt sensitive individuals. Hypertension and salt sensitivity are complex phenotypes whose pathophysiology remains poorly understood and, remarkably, salt sensitivity is still laborious to diagnose. Here we present a urinary proteomic study speci...

متن کامل
Journal: :Nephrology Dialysis Transplantation 2014

متن کامل
Journal: :Nephrology Dialysis Transplantation 2016

متن کامل
Journal: :Jornal Brasileiro de Nefrologia 2016

متن کامل
Journal: :The Journal of clinical investigation 2017
Bryce G Johnson Lan T Dang Graham Marsh Allie M Roach Zebulon G Levine Anthony Monti Deepak Reyon Lionel Feigenbaum Jeremy S Duffield

Uromodulin-associated kidney disease (UAKD) is caused by mutations in the uromodulin (UMOD) gene that result in a misfolded form of UMOD protein, which is normally secreted by nephrons. In UAKD patients, mutant UMOD is poorly secreted and accumulates in the ER of distal kidney epithelium, but its role in disease progression is largely unknown. Here, we modeled UMOD accumulation in mice by expre...

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"; } -->