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models?<br></font></span></li><li><span style=\"font-size:14px;\"><font color=\"#050505\">How do human induced pluripotent stem cells (hiPSCs) complement animal models in the study of TBX4 diseases, and what advantages do they offer?<br></font></span></li><li><span style=\"font-size:14px;\"><font color=\"#050505\">Delving into cell-cell interactions: distinguishing between cell-autonomous and non-autonomous effects, with a particular focus on endothelial cells and mural cells.<br></font></span></li><li><span style=\"font-size:14px;\"><font color=\"#050505\">Modeling clinical heterogeneity in iPSC-based research, encompassing both pulmonary arterial hypertension (PAH) and non-PAH phenotypes.<br></font></span></li><li><span style=\"font-size:14px;\"><font color=\"#050505\">Considerations for establishing a biobank for tissue collection and iPSC generation.</font></span></li></ul><span style=\"font-size:14px;\"><font color=\"#050505\">​<br>Current and Potential iPSC Models for TBX4 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Harnessing the power of comparative genomics to elucidate variable expressivity in TBX4&nbsp;syndrome.</b></font></span><br></div><div><font color=\"#050505\"><span style=\"font-size: 16px;\"><b>Discussion Lead:&nbsp;</b><span class=\"theme-text-color-4-4\">Pawel Stankiewicz, MD, PhD</span><b></b></span></font><font color=\"#050505\"><span style=\"font-size: 16px;\"><b></b></span></font>​<br></div></div><font color=\"#050505\"><span style=\"font-size: 16px;\"><b></b></span></font></div><span class=\"theme-text-color-0-4\"><span style=\"font-size:16px;\"><strong></strong></span></span><span style=\"font-size:16px;\"><strong></strong></span><span style=\"font-size:16px;\"></span><span style=\"font-size:16px;\"></span><span style=\"font-size:16px;\"></span>","verticalAlignment":"top"},"metaData":{"position":{"left":-437,"top":1085},"size":{"width":887,"height":60}}},{"type":"freeText","id":"id1700070239503","elementProperties":{"tagName":"DIV","behaviours":null,"isLocked":false,"name":"Text 35","baseName":null,"templateID":"templateid1665129314980","templateName":null,"order":50,"customStates":null,"isElementWasEditedInMode":false,"showHoverEffects":true,"skinInformation":{},"isSupportsMobile":false,"isVisibleInMode":true,"isFixed":false,"topZIndex":0,"elementOpacity":1,"staticMargin":{"horizontalMargin":0,"verticalMargin":0},"sizeAndPosition":{"width":766,"height":288,"left":-316,"top":1051},"lastResizingSize":{"width":766,"height":288,"left":-316,"top":1042},"isVisibleInLastSection":true,"isVisibleInLastDataItem":true,"attributes":null,"metaProps":null,"metaItemType":null,"metaTitle":null,"styleBindingId":null,"styleBindingFields":null,"shadow":{"top":0,"left":0,"spread":0,"blur":0,"color":"black"},"glow":{"spread":0,"blur":0,"color":"black"},"isParallaxBackground":false,"parallaxBackgroundSpeed":0.5,"isParallaxElement":{"isActive":false,"speed":1,"delay":0},"effectsOptions":{"isParallax":false,"oneTimeAnimation":false,"duration":1200,"startDistance":200,"startVisibility":0.8,"distance":300,"measureDistanceType":3,"delay":0,"distanceDelay":0,"runInLoop":false,"flyDirection":2,"direction":"horizontal","movementDistanceHorizontally":200,"movementDistanceVertically":0,"autoStartDistanceSettings":true,"autoDistanceSettings":true},"effects":null,"binding":null,"innerGlow":{"spread":0,"blur":0,"color":"black"},"innerShadow":{"top":0,"left":0,"spread":0,"blur":0,"color":"black"},"display":"fixed","cellItem":null,"cellHorizontalAlignment":"none","basicUserCanEdit":true,"backgroundColor":"transparent","imageUrl":"","imageLayout":"stretchedToFill","imagePosition":{"vertical":"center","horizontal":"center"},"origImage":"","imageOpacity":1,"backgroundOverlay":"transparent","isVisible":true,"verticalLayout":"normal","horizontalLayout":"normal","fillLayout":{"fillHorizontal":false,"fillVertical":false},"margin":{"top":0,"left":0,"bottom":0,"right":0},"borderWidth":{"top":0,"left":0,"bottom":0,"right":0},"roundness":{"topLeft":0,"bottomLeft":0,"topRight":0,"bottomRight":0},"borderColor":{"top":"Black","left":"Black","bottom":"Black","right":"Black"},"borderStyle":{"top":"solid","left":"solid","bottom":"solid","right":"solid"},"padding":{"top":0,"left":0,"bottom":0,"right":0},"rotationAngle":0,"verticalAlign":"center","horizontalAlign":"left","horizontalContentAlign":"center","startSelected":false,"urlAddress":null,"openInNewTab":false,"openInTopWindow":false,"shouldUnderlineChildren":false,"namedTextStyle":"bodyM","fontColor":null,"textShadow":[],"lineHeight":{"pixels":14,"percentages":120,"unit":"percentages"},"letterSpacing":0,"fontSize":null,"font":null,"contentTextTransform":"none","isBold":false,"isItalic":false,"isUnderline":false,"textStyle":{"bold":false,"underline":false,"italic":false},"textDirection":2,"dataBinding":null,"formattedText":"<span style=\"font-size:16px;\"><strong></strong></span><div><font color=\"#050505\"><span style=\"font-size: 16px;\"><b></b></span></font><div><font color=\"#050505\"><span style=\"font-size: 16px;\"><b></b></span></font><div><span style=\"color: rgb(5, 5, 5); font-size: 14px; background-color: initial; letter-spacing: 0px;\">Discussion and open questions around \"Complex compound inheritance in families with LLDD (lethal lung developmental disorders)\" </span><br></div><div><span style=\"color: rgb(5, 5, 5); font-size: 14px; background-color: initial; letter-spacing: 0px;\"></span><br></div><div><span style=\"color: rgb(5, 5, 5); font-size: 14px; background-color: initial; letter-spacing: 0px;\">The phenotypic spectrum of heterozygous coding SNVs and CNV deletions involving TBX4 includes pulmonary arterial hypertension (PAH), ischiocoxopodopatellar syndrome, and lethal lung developmental disorders (LLDDs) whereas heterozygous TBX4 duplications have been associated with nonsyndromic clubfoot. Biallelic coding SNVs involving TBX4 have been described in fetuses with lethal posterior amelia with pelvic and pulmonary hypoplasia syndrome. </span><br></div><div><span style=\"color: rgb(5, 5, 5); font-size: 14px; background-color: initial; letter-spacing: 0px;\"></span><br></div><div><span style=\"color: rgb(5, 5, 5); font-size: 14px; background-color: initial; letter-spacing: 0px;\">To elucidate this broad phenotypic spectrum with variable expressivity and incomplete penetrance, we proposed a complex compound inheritance in families with LLDD with non-coding regulatory elements playing a critical role in human lung development. 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style=\"font-size:16px;\"><strong></strong></span><div><font color=\"#050505\"><span style=\"font-size: 16px;\"><b></b></span></font><div><font color=\"#050505\"><span style=\"font-size: 16px;\"><b></b></span></font><div><span style=\"font-size:16px;\"><font color=\"#050505\"><b>10:30:00 AM - Lessons we can learn from modeling TBX4 pulmonary disorders in model organisms</b></font></span><br></div><div><font color=\"#050505\"><span style=\"font-size: 16px;\"><b>Discussion Leads:&nbsp;</b>Ripla Arora, PhD;&nbsp;Christian Mosimann, PhD; Vlad Kalinichenko, MD, PhD;&nbsp;James West, PhD; Jeff Whitsett, MD</span></font>​<br></div></div><font color=\"#050505\"><span style=\"font-size: 16px;\"><b></b></span></font></div><span class=\"theme-text-color-0-4\"><span style=\"font-size:16px;\"><strong></strong></span></span><span style=\"font-size:16px;\"><strong></strong></span><span style=\"font-size:16px;\"></span><span style=\"font-size:16px;\"></span><span 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style=\"font-size:16px;\"><strong></strong></span><div><font color=\"#050505\"><span style=\"font-size: 16px;\"><b></b></span></font><div><font color=\"#050505\"><span style=\"font-size: 16px;\"><b></b></span></font><div><span style=\"color: rgb(5, 5, 5); font-size: 14px; background-color: initial; letter-spacing: 0px;\">The first 10 minutes will be spent introducing the speakers and highlighting each of their lab’s research as it relates to TBX4 syndrome</span><br></div><ul><li><span style=\"color: rgb(5, 5, 5); font-size: 14px; background-color: initial; letter-spacing: 0px;\">Ripla Arora: Arora lab’s efforts to model TBX4 syndrome using a mouse model</span><br></li><li><span style=\"color: rgb(5, 5, 5); font-size: 14px; background-color: initial; letter-spacing: 0px;\"></span><span style=\"color: rgb(5, 5, 5); font-size: 14px; background-color: initial; letter-spacing: 0px;\">Christian Mosimann: Mosimann lab’s efforts to understand TBX4 transcriptional networks and genetic interaction with other TBX factors using zebrafish.</span><br></li><li><span style=\"color: rgb(5, 5, 5); font-size: 14px; background-color: initial; letter-spacing: 0px;\">Vlad Kalinichenko: Will discuss experience with FOXF1 mutation which causes Alveolar Capillary Dysplasia with Misalignment of Pulmonary Vein (ACDMPV) and how some of the approaches could be applied to Tbx4.</span><br></li><li><span style=\"color: rgb(5, 5, 5); font-size: 14px; background-color: initial; letter-spacing: 0px;\">James West: Combined ChIP-seq and RNA-seq in different cell types, and RNA-seq in mouse lung. </span><br></li></ul><div><span style=\"color: rgb(5, 5, 5); font-size: 14px; background-color: initial; letter-spacing: 0px;\"></span><br></div><div><span style=\"color: rgb(5, 5, 5); font-size: 14px; background-color: initial; letter-spacing: 0px;\">The remaining 15 minutes will involve discussion for the following topics: </span><br></div><ul><li><span style=\"color: rgb(5, 5, 5); font-size: 14px; background-color: initial; letter-spacing: 0px;\">How can learning about the Tbx4 downstream program in different model organisms be synergized?</span><br></li><li><span style=\"color: rgb(5, 5, 5); font-size: 14px; background-color: initial; letter-spacing: 0px;\">How can we bring together information on cell type specific programs that are affected by TBX4.</span><br></li><li><span style=\"color: rgb(5, 5, 5); font-size: 14px; background-color: initial; letter-spacing: 0px;\">Can we create a table of validated/suspected Tbx4 target genes?</span><br></li><li><span style=\"color: rgb(5, 5, 5); font-size: 14px; background-color: initial; letter-spacing: 0px;\">What regulatory elements does TBX4 bind (general targets, cell type-specific targets)?</span><br></li><li><span style=\"color: rgb(5, 5, 5); font-size: 14px; background-color: initial; letter-spacing: 0px;\">Can we come up with a bundle of genes that associate with TBX4 activity/signaling so we can use these to annotate signaling 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