'+pages+''); $('.stream > div:odd').addClass('bgr_color'); updateHeight('#history'); }); window.activateTabArea = ensure(function(tab, areas){ var parsed = false; var parts = (areas || '').split('/'); window.fsonload = $.inArray('fs', parts) >= 0; if(fsonload){ parts.splice(parts.indexOf('fs'), 1); } var replayMode = false; if($.inArray('replay', parts)>=0){ replayMode = 'replay'; } var noSoundMode = false; if($.inArray('nosound', parts)>=0){ noSoundMode = 'nosound'; } if($.inArray('ns', parts)>=0){ noSoundMode = 'ns'; } var previewMode = null; if($.inArray('p', parts)>=0){ previewMode = 'p'; } if($.inArray('preview', parts)>=0){ previewMode = 'preview'; } if($.inArray('repeat', parts)>=0){ replayMode = 'repeat'; } if($.inArray('r', parts)>=0 || $.inArray('ro', parts)>=0){ replayMode = 'r'; } if(replayMode){ parts.splice(parts.indexOf(replayMode), 1); } if(noSoundMode){ parts.splice(parts.indexOf(noSoundMode), 1); } if(previewMode){ parts.splice(parts.indexOf(previewMode), 1); } if(previewMode){ if(!parts.length){ parts = ['1-14', '999:59']; } } var area = parts[0]; if(tab == 'history' && false){ var page = parseInt(area || '1') || 1; $.ajax({ url: 'https://login.wn.com/recent/json/?pp='+history_pp+'&skip='+history_pp*(page-1), dataType: 'jsonp', success: function(response){ $ensure(function(){ renderHistory(response, page); }); } }); return true; } if(tab == 'global_history' && false){ var page = parseInt(area || '1') || 1; globalHistory.fetchStream(page, '', function(){ updateHeight('#global_history'); }); return true; } if(tab == 'my_playlists' && false){ var page = parseInt(area || '1') || 1; myPlaylists.fetchStream(page, '', function(){ updateHeight('#my_playlists'); }); return true; } if(tab == 'my_videos' && false){ var page = parseInt(area || '1') || 1; myVideos.fetchStream(page, '', function(){ updateHeight('#my_videos'); }); return true; } if(tab == 'related_sites' && areas && matchPosition(areas)){ var seconds = parsePosition(areas); scrollRelated(seconds); return false; } if(matchPosition(area) || matchAction(area)){ parts.unshift('1'); area = parts[0]; } if(tab == 'expand' && area && area.match(/\d+/)) { var num = parseInt(area); if(num < 100){ //FIX ME. Load news page with ajax here } else if(num > 1900){ //FIX ME. Load timeline page with ajax here } } else if(tab.match(/^playlist\d+$/)){ var playerId = parseInt(tab.substring(8)); var vp = videoplayers[playerId]; window.descriptionsholder = $('.descriptionsplace'); if(!vp) return; // why? no player? if(replayMode){ $('.replaycurrent'+playerId).attr('checked', true); vp.setReplayCurrent(true); } var playQueue = []; window.playQueue = playQueue; var playQueuePosition = 0; var playShouldStart = null; var playShouldStop = null; var parseList = function(x){ var items = x.split(/;|,/g); var results = []; for (i in items){ try{ var action = parseAction(vp, items[i]); if(!action.video){ if(window.console && console.log) console.log("Warning: No video for queued entry: " + items[i]); }else{ results.push(action); } }catch(e){ if(window.console && console.log) console.log("Warning: Can''t parse queue entry: " + items[i]); } } return results; }; var scrollToPlaylistPosition = function(vp){ var ppos = vp.getPlaylistPosition(); var el = vp.playlistContainer.find('>li').eq(ppos); var par = el.closest('.playlist_scrollarea'); par.scrollTop(el.offset().top-par.height()/2); } var updateVolumeState = function(){ if(noSoundMode){ if(noSoundMode == 'turn-on'){ clog("Sound is on, vsid="+vp.vsid); vp.setVolumeUnMute(); noSoundMode = false; }else{ clog("Sound is off, vsid="+vp.vsid); vp.setVolumeMute(); noSoundMode = 'turn-on'; } } } var playQueueUpdate = function(){ var playPosition = playQueue[playQueuePosition]; vp.playFromPlaylist(playPosition.video); scrollToPlaylistPosition(vp); playShouldStart = playPosition.start; playShouldStop = playPosition.stop; }; var playQueueAdvancePosition = function(){ clog("Advancing play position..."); playQueuePosition ++; while(playQueuePosition < playQueue.length && !playQueue[playQueuePosition].video){ playQueuePosition ++; } if(playQueuePosition < playQueue.length){ playQueueUpdate(); }else if(vp.getReplayCurrent()){ playQueuePosition = 0; playQueueUpdate(); vp.seekTo(playShouldStart); vp.playVideo(); }else{ vp.pauseVideo(); playShouldStop = null; playShouldStart = null; } }; function loadMoreVideos(playerId, vp, start, finish, callback){ var playlistInfo = playlists[playerId-1]; if(playlistInfo.loading >= finish) return; playlistInfo.loading = finish; $.ajax({ url: '/api/upge/cheetah-photo-search/query_videos2', dataType: 'json', data: { query: playlistInfo.query, orderby: playlistInfo.orderby, start: start, count: finish-start }, success: function(response){ var pl = vp.getPlaylist().slice(0); pl.push.apply(pl, response); vp.setPlaylist(pl); callback(); } }); } if(parts.length == 1 && matchDash(parts[0])){ var pl = vp.getActualPlaylist(); var vids = parseDash(parts[0]); parts = []; for(var i = 0; i < vids.length; i++){ playQueue.push({ 'video': pl[vids[i]-1], 'start': 0, 'stop': null }) } if(vids.length){ if(vids[vids.length-1]-1>=pl.length){ loadMoreVideos(playerId, vp, pl.length, vids[vids.length-1], function(){ if(fsonload){ activateTabArea(tab, parts[0]+'/fs'); }else{ activateTabArea(tab, parts[0]); } var pls = vp.getPlaylist(); vp.playFromPlaylist(pls[pls.length-1]); vp.playVideo(); scrollToPlaylistPosition(vp); }); return true; } } if(playQueue){ playQueueUpdate(); vp.playVideo(); parsed = true; playShouldStart = 0; } } if(previewMode){ var vids = []; var dur = 0; var pl = vp.getActualPlaylist(); area = parts[0]; if(parts.length == 1 && matchPosition(parts[0])){ vids = parseDash('1-'+pl.length); dur = parsePosition(parts[0]); parts = []; }else if(parts.length == 1 && matchDash(parts[0])){ vids = parseDash(parts[0]); dur = parsePosition("999:59"); parts = []; } if(parts.length == 2 && matchDash(parts[0]) && matchPosition(parts[1])){ vids = parseDash(parts[0]); dur = parsePosition(parts[1]); parts = []; } for(var i = 0; i < vids.length; i++){ playQueue.push({ 'video': pl[vids[i]-1], 'start': 0, 'stop': dur }) } if(playQueue){ playQueueUpdate(); vp.playVideo(); parsed = true; } } if(parts.length>1){ for(var i = 0; i < parts.length; i++){ var sel = findMatchingVideo(vp, parts[i]); if(sel){ playQueue.push({ 'video': sel, 'start': 0, 'stop': null }) } } if(playQueue){ playQueueUpdate(); vp.playVideo(); parsed = true; } }else if(area){ var sel = findMatchingVideo(vp, area); if(sel){ vp.playFromPlaylist(sel); playShouldStart = 0; parsed = true; } } if(fsonload || replayMode){ playShouldStart = 0; } if(document.location.search.match('at=|queue=')){ var opts = document.location.search.replace(/^\?/,'').split(/&/g); for(var o in opts){ if(opts[o].match(/^at=(\d+:)?(\d+:)?\d+$/)){ playShouldStart = parsePosition(opts[o].substr(3)) } if(opts[o].match(/^queue=/)){ playQueue = parseList(opts[o].substr(6)); if(playQueue){ playQueuePosition = 0; playQueueUpdate(); } } } } if(matchPosition(parts[1])){ playShouldStart = parsePosition(parts[1]); parsed = true; } if(matchAction(parts[1])){ var action = parseAction(vp, area+'/'+parts[1]); playShouldStart = action.start; playShouldStop = action.stop; parsed = true; } if(playShouldStart !== null && !playQueue.length){ playQueue.push({ video: vp.getCurrentVideo(), start: playShouldStart, stop: playShouldStop }); } if(playShouldStart != null){ setInterval(function(){ if(playShouldStop && vp.currentPlayer && vp.currentPlayer.getCurrentTime() > playShouldStop){ playShouldStop = null; if(vp.getCurrentVideo() == playQueue[playQueuePosition].video){ playQueueAdvancePosition(); }else{ playShouldStart = null; } } }, 500); vp.playerContainer.bind('videoplayer.player.statechange', function(e, state){ if(state == 'ended'){ // advance to the next video playQueueAdvancePosition(); } }); vp.playerContainer.bind('videoplayer.player.readychange', function(e, state){ if(state){ updateVolumeState(); if(playShouldStart !== null){ vp.seekTo(playShouldStart); playShouldStart = null; }else{ playShouldStop = null; // someone started other video, stop playing from playQueue } } if(fsonload) { triggerFullscreen(playerId); fsonload = false; } }); } } else if(tab.match(/^wiki\d+$/)){ if(firstTimeActivate){ load_wiki($('#'+tab), function(){ if(area){ var areaNode = $('#'+area); if(areaNode.length>0){ $('html, body').scrollTop(areaNode.offset().top + 10); return true; } } }); } } return parsed; }) window.activateTab = ensure(function(tab, area){ window.activeArea = null; if(tab == 'import_videos'){ if(area){ import_videos(area); }else{ start_import(); } return true; } if(tab == 'chat'){ update_chat_position($('.chat').eq(0)); window.activeArea = 'chat'; jQuery('.tabtrigger').offscreentabs('activateTab', 'chat'); return true; } if(tab in rev_names){ tab = rev_names[tab]; } if(tab.match(':')){ return false; } var sup = $('ul li a[id=#'+tab+']'); if(sup && sup.length>0){ window.activeArea = area; sup.first().click(); if(!window.activateTabArea(tab, area)){ window.activeArea = null; } window.activeArea = null; return true; }else{ var have_tabs = $('#playlist_menu li').length; if(tab.match(/^playlists?\d+$/)){ var to_add = +tab.substring(8).replace(/^s/,'')-have_tabs; if(to_add>0 && have_tabs){ add_more_videos(to_add); return true; } } } return false; }); window.currentPath = ensure(function(){ return window.lastHistory.replace(basepath, '').split('?')[0]; }); window.main_tab = window.main_tab || 'videos'; window.addHistory = ensure(function(path){ if(window.console && console.log) console.log("Adding to history: "+path); if(window.history && history.replaceState && document.location.hostname.match(/^(youtube\.)?(\w{2,3}\.)?wn\.com$/)){ if(path == main_tab || path == main_tab+'/' || path == '' || path == '/') { path = basepath; } else if( path.match('^'+main_tab+'/') ){ path = basepath + '/' + path.replace(main_tab+'/', '').replace('--','/'); } else { path = basepath + '/' + path.replace('--','/'); } if(document.location.search){ path += document.location.search; } if(window.lastHistory) { history.pushState(null, null, path); } else if(window.lastHistory != path){ history.replaceState(null, null, path); window.lastHistory = path; } } else{ path = path.replace('--','/'); if(path == main_tab || path == main_tab+'/' || path == '' || path == '/') { path = ''; } if(window.lastHistory != '/'+path){ window.location.hash = path? '/'+path : ''; window.lastHistory = '/'+path; } } }); $('.tabtrigger li a').live('click', ensure(function() { var tab = $(this).attr('id'); if(tab.substring(0,1) == '#'){ var name = tab.substring(1); if(name in menu_names){ name = menu_names[name][0]; } realTab = rev_names[name]; $('#'+realTab).show(); if(window.console && console.log) console.log("Triggering tab: "+name+(window.activeArea?" activeArea="+window.activeArea:'')); var path = name; if(window.activeArea){ path = path + '/' + window.activeArea; } if(tab.match(/#playlist\d+/) || tab.match(/#details\d+/)){ $('.multiple-playlists').show(); $('.related_playlist').show(); $('.longest_videos_playlist').show(); }else { $('.multiple-playlists').hide(); $('.related_playlist').hide(); $('.longest_videos_playlist').hide(); } // start the related script only when the tab is on screen showing if (tab.match(/related_sites/)) { if (mc) { mc.startCredits(); } } window.activeTab = realTab; addHistory(path); setTimeout(ensure(function(){ if(tab.match(/language--/)){ $('.tabtrigger').offscreentabs('activateTab', 'language'); } if(tab.match(/weather/)) { $('.tabtrigger').offscreentabs('activateTab', 'weather'); loadContinent(); } updateMenus(tab); updateHeight(); }), 10); } return false; })); }); -->

Beta-catenin

Catenin beta-1 also known as β-catenin is a protein that in humans is encoded by the CTNNB1 gene.

β-catenin is a dual function protein, regulating the coordination of cell–cell adhesion and gene transcription. In humans, the CTNNB1 protein is encoded by the CTNNB1 gene. In Drosophila, the homologous protein is called armadillo. β-catenin is a subunit of the cadherin protein complex and acts as an intracellular signal transducer in the Wnt signaling pathway. It is a member of the catenin protein family and homologous to γ-catenin, also known as plakoglobin. Beta-catenin is widely expressed in many tissues. In cardiac muscle, beta-catenin localizes to adherens junctions in intercalated disc structures, which are critical for electrical and mechanical coupling between adjacent cardiomyocyte.

Mutations and overexpression of β-catenin are associated with many cancers, including hepatocellular carcinoma, colorectal carcinoma, lung cancer, malignant breast tumors, ovarian and endometrial cancer. Alterations in the localization and expression levels of beta-catenin have been associated with various forms of heart disease, including dilated cardiomyopathy. β-catenin is regulated and destroyed by the beta-catenin destruction complex, and in particular by the adenomatous polyposis coli (APC) protein, encoded by the tumour-suppressing APC gene. Therefore genetic mutation of the APC gene is also strongly linked to cancers, and in particular colorectal cancer resulting from familial adenomatous polyposis (FAP).

Podcasts:

  • Somatic CTNNB1 mutations cause adrenocortical cell de-differentiation | Ada Teo

    In this video, University of Cambridge researcher Ada Teo discusses her discovery of pregnancy-unmasked primary aldosteronism and its phenotype-genotype correlation. Primary aldosteronism is the most common cause of secondary hypertension, resulting in raised blood pressure. Ada Teo's research focuses on the molecular genetics of hypertension in the WNT signalling pathway, eventually aiming to develop therapies for hypertension personalised to each individual. Ada Teo is a medical student at the University of Cambridge, currently also studying for a PhD with the University of Cambridge Clinical Pharmacology Unit. Her work is funded through a full scholarship from the Singapore Agency for Science, Technology and Research (A*STAR). She is also a Wellcome Trust Research Fellow. This clip ...

    published: 03 Jun 2016
  • What is CTNNB1 Syndrome?

    Please help us spread awareness by liking, commenting, and sharing this video! You can also visit our website at www.curectnnb1.org.

    published: 21 Feb 2023
  • What does CTNNB1 Connect & Cure do?

    CTNNB1, Funding Research, Advocacy, and promoting Awareness. Like, did you know that the number one genetic cause of Cerebral Palsy is CTNNB1 Syndrome?

    published: 16 Jan 2024
  • CTNNB1 Community

    This is our official CTNNB1 Community presentation video. Enjoy! Please visit our website: www.ctnnb1.foundation.org To DONATE please go to: https://gofund.me/147c3992

    published: 29 Mar 2021
  • Ctnnb1 Syndrome Signs Symptoms Causes

    Ctnnb1 Syndrome Signs Symptoms Causes Please Subscribe to my channel - https://goo.gl/1bPwJX Hello Viewers, Welcome to My Channel. In this video, you will be able to know Ctnnb1 Syndrome Signs Symptoms Causes. Thank you for watching this video. Please: LIKE || COMMENT || SHARE || SUBSCRIBE Related Terms: ctnnb1 syndrome,Ctnnb1 life expectancy,ctnnb1 gene,ctnnb1 gene mutation,Ctnnb1 symptoms,Ctnnb1 treatment,Ctnnb1 test,ctnnb1 cancer DISCLAIMER: The images used on this video are downloaded from http://google.com, by means of fair use policy. Health_Disclaimer The information on this site is not intended or implied to be a substitute for professional medical advice, diagnosis or treatment. All content, including text, graphics, images, and information, contained on or av...

    published: 20 Nov 2023
  • CTNNB1 Syndrome from a parent perspective - Effie Parks, "Once Upon A Gene" Podcast

    1st International CTNNB1 Syndrome Conference CTNNB1 Syndrome from a parent perspective Effie Parks – Creator of award winning podcast "Once upon a gene" (USA)

    published: 20 Jan 2024
  • CTNNB1 Foundation: A Path to Hope for Children with CTNNB1 Syndrome - Dr. Spela Mirosevic

    2nd International CTNNB1 Syndrome Conference CTNNB1 Foundation: A Path to Hope for Children with CTNNB1 Syndrome Dr. Spela Mirosevic, CTNNB1 mother, Founding President of the CTNNB1 Foundation

    published: 24 Jul 2024
  • Could medicine be a treatment option for CTNNB1 syndrome?

    Tonya is back to explain how a single drug compound could help our Dragonflys.

    published: 07 Mar 2024
  • 2nd International CTNNB1 Syndrome Conference - Opening Cerimony

    2nd International CTNNB1 Syndrome Conference Opening Cerimony Dr. Damjan Osredkar, Pediatric Neurologist, University Medical Centre Ljubljana Dr Špela Miroševič, CTNNB1 Mother, Founding President of the CTNNB1 Foundation Dr. Igor Švab, Dean of the Faculty of Medicine Ljubljana Dr. Nataša Pirc Musar, President of Slovenia

    published: 24 Jul 2024
  • New Hope for Children with CTNNB1 Syndrome

    Please visit www.ctnnb1-foundation.org and help us fund the gene therapy program. You can also donate via GoFundMe page: https://gofund.me/147c3992 Preparations: https://doberstik.si

    published: 09 Apr 2021
developed with YouTube
Somatic CTNNB1 mutations cause adrenocortical cell de-differentiation | Ada Teo
10:48

Somatic CTNNB1 mutations cause adrenocortical cell de-differentiation | Ada Teo

  • Order:
  • Duration: 10:48
  • Uploaded Date: 03 Jun 2016
  • views: 1422
In this video, University of Cambridge researcher Ada Teo discusses her discovery of pregnancy-unmasked primary aldosteronism and its phenotype-genotype correlation. Primary aldosteronism is the most common cause of secondary hypertension, resulting in raised blood pressure. Ada Teo's research focuses on the molecular genetics of hypertension in the WNT signalling pathway, eventually aiming to develop therapies for hypertension personalised to each individual. Ada Teo is a medical student at the University of Cambridge, currently also studying for a PhD with the University of Cambridge Clinical Pharmacology Unit. Her work is funded through a full scholarship from the Singapore Agency for Science, Technology and Research (A*STAR). She is also a Wellcome Trust Research Fellow. This clip was filmed as part of the Academy of Medical Sciences Spring Meeting, 2016. To read more about the Spring Meeting, visit https://acmedsci.ac.uk/grants-and-schemes/events/spring-meeting/competitions/past-spring-meetings We are the independent body in the UK representing the diversity of medical science. Our mission is to advance biomedical and health research and its translation into benefits for society. Find the Academy of Medical Sciences online: Website: http://acmedsci.ac.uk/ Twitter: http://twitter.com/AcMedSci Facebook: http://www.facebook.com/acmedsci Instagram: http://www.instagram.com/acmedsci/
https://wn.com/Somatic_Ctnnb1_Mutations_Cause_Adrenocortical_Cell_De_Differentiation_|_Ada_Teo
What is CTNNB1 Syndrome?
1:01

What is CTNNB1 Syndrome?

  • Order:
  • Duration: 1:01
  • Uploaded Date: 21 Feb 2023
  • views: 1597
Please help us spread awareness by liking, commenting, and sharing this video! You can also visit our website at www.curectnnb1.org.
https://wn.com/What_Is_Ctnnb1_Syndrome
What does CTNNB1 Connect & Cure do?
2:26

What does CTNNB1 Connect & Cure do?

  • Order:
  • Duration: 2:26
  • Uploaded Date: 16 Jan 2024
  • views: 119
CTNNB1, Funding Research, Advocacy, and promoting Awareness. Like, did you know that the number one genetic cause of Cerebral Palsy is CTNNB1 Syndrome?
https://wn.com/What_Does_Ctnnb1_Connect_Cure_Do
CTNNB1 Community
5:24

CTNNB1 Community

  • Order:
  • Duration: 5:24
  • Uploaded Date: 29 Mar 2021
  • views: 3838
This is our official CTNNB1 Community presentation video. Enjoy! Please visit our website: www.ctnnb1.foundation.org To DONATE please go to: https://gofund.me/147c3992
https://wn.com/Ctnnb1_Community
Ctnnb1 Syndrome Signs Symptoms Causes
4:34

Ctnnb1 Syndrome Signs Symptoms Causes

  • Order:
  • Duration: 4:34
  • Uploaded Date: 20 Nov 2023
  • views: 49
Ctnnb1 Syndrome Signs Symptoms Causes Please Subscribe to my channel - https://goo.gl/1bPwJX Hello Viewers, Welcome to My Channel. In this video, you will be able to know Ctnnb1 Syndrome Signs Symptoms Causes. Thank you for watching this video. Please: LIKE || COMMENT || SHARE || SUBSCRIBE Related Terms: ctnnb1 syndrome,Ctnnb1 life expectancy,ctnnb1 gene,ctnnb1 gene mutation,Ctnnb1 symptoms,Ctnnb1 treatment,Ctnnb1 test,ctnnb1 cancer DISCLAIMER: The images used on this video are downloaded from http://google.com, by means of fair use policy. Health_Disclaimer The information on this site is not intended or implied to be a substitute for professional medical advice, diagnosis or treatment. All content, including text, graphics, images, and information, contained on or available through this website is for general information purposes only. #Ctnnb1
https://wn.com/Ctnnb1_Syndrome_Signs_Symptoms_Causes
CTNNB1 Syndrome from a parent perspective - Effie Parks, "Once Upon A Gene" Podcast
4:35

CTNNB1 Syndrome from a parent perspective - Effie Parks, "Once Upon A Gene" Podcast

  • Order:
  • Duration: 4:35
  • Uploaded Date: 20 Jan 2024
  • views: 249
1st International CTNNB1 Syndrome Conference CTNNB1 Syndrome from a parent perspective Effie Parks – Creator of award winning podcast "Once upon a gene" (USA)
https://wn.com/Ctnnb1_Syndrome_From_A_Parent_Perspective_Effie_Parks,_Once_Upon_A_Gene_Podcast
CTNNB1 Foundation: A Path to Hope for Children with CTNNB1 Syndrome - Dr. Spela Mirosevic
22:12

CTNNB1 Foundation: A Path to Hope for Children with CTNNB1 Syndrome - Dr. Spela Mirosevic

  • Order:
  • Duration: 22:12
  • Uploaded Date: 24 Jul 2024
  • views: 176
2nd International CTNNB1 Syndrome Conference CTNNB1 Foundation: A Path to Hope for Children with CTNNB1 Syndrome Dr. Spela Mirosevic, CTNNB1 mother, Founding President of the CTNNB1 Foundation
https://wn.com/Ctnnb1_Foundation_A_Path_To_Hope_For_Children_With_Ctnnb1_Syndrome_Dr._Spela_Mirosevic
Could medicine be a treatment option for CTNNB1 syndrome?
3:09

Could medicine be a treatment option for CTNNB1 syndrome?

  • Order:
  • Duration: 3:09
  • Uploaded Date: 07 Mar 2024
  • views: 471
Tonya is back to explain how a single drug compound could help our Dragonflys.
https://wn.com/Could_Medicine_Be_A_Treatment_Option_For_Ctnnb1_Syndrome
2nd International CTNNB1 Syndrome Conference - Opening Cerimony
13:56

2nd International CTNNB1 Syndrome Conference - Opening Cerimony

  • Order:
  • Duration: 13:56
  • Uploaded Date: 24 Jul 2024
  • views: 89
2nd International CTNNB1 Syndrome Conference Opening Cerimony Dr. Damjan Osredkar, Pediatric Neurologist, University Medical Centre Ljubljana Dr Špela Miroševič, CTNNB1 Mother, Founding President of the CTNNB1 Foundation Dr. Igor Švab, Dean of the Faculty of Medicine Ljubljana Dr. Nataša Pirc Musar, President of Slovenia
https://wn.com/2Nd_International_Ctnnb1_Syndrome_Conference_Opening_Cerimony
New Hope for Children with CTNNB1 Syndrome
3:35

New Hope for Children with CTNNB1 Syndrome

  • Order:
  • Duration: 3:35
  • Uploaded Date: 09 Apr 2021
  • views: 4168
Please visit www.ctnnb1-foundation.org and help us fund the gene therapy program. You can also donate via GoFundMe page: https://gofund.me/147c3992 Preparations: https://doberstik.si
https://wn.com/New_Hope_For_Children_With_Ctnnb1_Syndrome
developed with YouTube
PLAYLIST TIME:
  • Most Related
  • Most Recent
  • Most Popular
  • Top Rated
developed with YouTube
PLAYLIST TIME:

Somatic CTNNB1 mutations cause adrenocortical cell de-differentiation | Ada Teo

In this video, University of Cambridge researcher Ada Teo discusses her discovery of pregnancy-unmasked primary aldosteronism and its phenotype-genotype correlation. Primary aldosteronism is the most common cause of secondary hypertension, resulting in raised blood pressure. Ada Teo's research focuses on the molecular genetics of hypertension in the WNT signalling pathway, eventually aiming to develop therapies for hypertension personalised to each individual. Ada Teo is a medical student at the University of Cambridge, currently also studying for a PhD with the University of Cambridge Clinical Pharmacology Unit. Her work is funded through a full scholarship from the Singapore Agency for Science, Technology and Research (A*STAR). She is also a Wellcome Trust Research Fellow. This clip was filmed as part of the Academy of Medical Sciences Spring Meeting, 2016. To read more about the Spring Meeting, visit https://acmedsci.ac.uk/grants-and-schemes/events/spring-meeting/competitions/past-spring-meetings We are the independent body in the UK representing the diversity of medical science. Our mission is to advance biomedical and health research and its translation into benefits for society. Find the Academy of Medical Sciences online: Website: http://acmedsci.ac.uk/ Twitter: http://twitter.com/AcMedSci Facebook: http://www.facebook.com/acmedsci Instagram: http://www.instagram.com/acmedsci/
10:48
Somatic CTNNB1 mutations cause adrenocortical cell de-differentiation | Ada Teo
In this video, University of Cambridge researcher Ada Teo discusses her discovery of pregn...
published: 03 Jun 2016
Play in Full Screen
1:01
What is CTNNB1 Syndrome?
Please help us spread awareness by liking, commenting, and sharing this video! You can als...
published: 21 Feb 2023
Play in Full Screen
2:26
What does CTNNB1 Connect & Cure do?
CTNNB1, Funding Research, Advocacy, and promoting Awareness. Like, did you know that the n...
published: 16 Jan 2024
Play in Full Screen
5:24
CTNNB1 Community
This is our official CTNNB1 Community presentation video. Enjoy! Please visit our website:...
published: 29 Mar 2021
Play in Full Screen
4:34
Ctnnb1 Syndrome Signs Symptoms Causes
Ctnnb1 Syndrome Signs Symptoms Causes Please Subscribe to my channel - https://goo.gl/1bPw...
published: 20 Nov 2023
Play in Full Screen
4:35
CTNNB1 Syndrome from a parent perspective - Effie Parks, "Once Upon A Gene" Podcast
1st International CTNNB1 Syndrome Conference CTNNB1 Syndrome from a parent perspective Ef...
published: 20 Jan 2024
Play in Full Screen
22:12
CTNNB1 Foundation: A Path to Hope for Children with CTNNB1 Syndrome - Dr. Spela Mirosevic
2nd International CTNNB1 Syndrome Conference CTNNB1 Foundation: A Path to Hope for Childr...
published: 24 Jul 2024
Play in Full Screen
3:09
Could medicine be a treatment option for CTNNB1 syndrome?
Tonya is back to explain how a single drug compound could help our Dragonflys.
published: 07 Mar 2024
Play in Full Screen
13:56
2nd International CTNNB1 Syndrome Conference - Opening Cerimony
2nd International CTNNB1 Syndrome Conference Opening Cerimony Dr. Damjan Osredkar, Pedia...
published: 24 Jul 2024
Play in Full Screen
3:35
New Hope for Children with CTNNB1 Syndrome
Please visit www.ctnnb1-foundation.org and help us fund the gene therapy program. You can...
published: 09 Apr 2021
Play in Full Screen

Beta-catenin

Catenin beta-1 also known as β-catenin is a protein that in humans is encoded by the CTNNB1 gene.

β-catenin is a dual function protein, regulating the coordination of cell–cell adhesion and gene transcription. In humans, the CTNNB1 protein is encoded by the CTNNB1 gene. In Drosophila, the homologous protein is called armadillo. β-catenin is a subunit of the cadherin protein complex and acts as an intracellular signal transducer in the Wnt signaling pathway. It is a member of the catenin protein family and homologous to γ-catenin, also known as plakoglobin. Beta-catenin is widely expressed in many tissues. In cardiac muscle, beta-catenin localizes to adherens junctions in intercalated disc structures, which are critical for electrical and mechanical coupling between adjacent cardiomyocyte.

Mutations and overexpression of β-catenin are associated with many cancers, including hepatocellular carcinoma, colorectal carcinoma, lung cancer, malignant breast tumors, ovarian and endometrial cancer. Alterations in the localization and expression levels of beta-catenin have been associated with various forms of heart disease, including dilated cardiomyopathy. β-catenin is regulated and destroyed by the beta-catenin destruction complex, and in particular by the adenomatous polyposis coli (APC) protein, encoded by the tumour-suppressing APC gene. Therefore genetic mutation of the APC gene is also strongly linked to cancers, and in particular colorectal cancer resulting from familial adenomatous polyposis (FAP).

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