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ArticlesPeer ReviewedFull Text
Mechanisms and cell lineages in lymphatic vascular development
Author / Creator:Jafree, Daniyal J. ; Long, David A. ; Scambler, Peter J. ; Ruhrberg, Christiana
Publisher:Dordrecht: Springer Netherlands
Journal title:Angiogenesis (London), 2021-05, Vol.24 (2), p.271-288
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Neural crest–derived SEMA3C activates endothelial NRP1 for cardiac outflow tract septation
Author / Creator:Plein, Alice ; Calmont, Amélie ; Fantin, Alessandro ; Denti, Laura ; Anderson, Naomi A. ; Scambler, Peter J. ; Ruhrberg, Christiana
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2015-07, Vol.125 (7), p.2661-2676
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Loss of CXCL12/CXCR4 signalling impacts several aspects of cardiovascular development but does not exacerbate Tbx1 haploinsufficiency
Author / Creator:Page, Mahalia ; Ridge, Liam ; Gold Diaz, Diana ; Tsogbayar, Tsolmon ; Scambler, Peter J. ; Ivins, Sarah
Publisher:United States: Public Library of Science
Journal title:PloS one, 2018-11, Vol.13 (11), p.e0207251
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Tbx1 Regulates the BMP-Smad1 Pathway in a Transcription Independent Manner
Author / Creator:Fulcoli, F. Gabriella ; Huynh, Tuong ; Scambler, Peter J. ; Baldini, Antonio
Publisher:United States: Public Library of Science
Journal title:PloS one, 2009-06, Vol.4 (6), p.e6049-e6049
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Spatiotemporal dynamics and heterogeneity of renal lymphatics in mammalian development and cystic kidney disease
Author / Creator:Jafree, Daniyal J ; Moulding, Dale ; Kolatsi-Joannou, Maria ; Perretta Tejedor, Nuria ; Price, Karen L ; Milmoe, Natalie J ; Walsh, Claire L ; Correra, Rosa Maria ; Winyard, Paul JD ; Harris, Peter C ; Ruhrberg, Christiana ; Walker-Samuel, Simon ; Riley, Paul R ; Woolf, Adrian S ; Scambler, Peter J ; Long, David A
Publisher:England: eLife Science Publications, Ltd
Journal title:eLife, 2019-12, Vol.8
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IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy
Author / Creator:Beales, Philip L ; Bland, Elizabeth ; Tobin, Jonathan L ; Bacchelli, Chiara ; Tuysuz, Beyhan ; Hill, Josephine ; Rix, Suzanne ; Pearson, Chad G ; Kai, Masatake ; Hartley, Jane ; Johnson, Colin ; Irving, Melita ; Elcioglu, Nursel ; Winey, Mark ; Tada, Masazumi ; Scambler, Peter J
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2007-06, Vol.39 (6), p.727-729
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Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: Implications for 22q11 deletion syndrome
Author / Creator:Paylor, Richard ; Glaser, Beate ; Mupo, Annalisa ; Ataliotis, Paris ; Spencer, Corinne ; Sobotka, Angela ; Sparks, Chelsey ; Choi, Chul-Hee ; Oghalai, John ; Curran, Sarah ; Murphy, Kieran C. ; Monks, Stephen ; Williams, Nigel ; O’Donovan, Michael C. ; Owen, Michael J. ; Scambler, Peter J. ; Lindsay, Elizabeth
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2006-05, Vol.103 (20), p.7729-7734
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HIRA Is Required for Heart Development and Directly Regulates Tnni2 and Tnnt3
Author / Creator:Dilg, Daniel ; Saleh, Rasha Noureldin M. ; Phelps, Sarah Elizabeth Lee ; Rose, Yoann ; Dupays, Laurent ; Murphy, Cian ; Mohun, Timothy ; Anderson, Robert H. ; Scambler, Peter J. ; Chapgier, Ariane L. A.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2016-08, Vol.11 (8), p.e0161096-e0161096
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Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice
Author / Creator:Lindsay, Elizabeth A. ; Vitelli, Francesca ; Su, Hong ; Morishima, Masae ; Huynh, Tuong ; Pramparo, Tiziano ; Jurecic, Vesna ; Ogunrinu, George ; Sutherland, Helen F. ; Scambler, Peter J. ; Bradley, Allan ; Baldini, Antonio
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 2001-03, Vol.410 (6824), p.97-101
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Hearing Loss in a Mouse Model of 22q11.2 Deletion Syndrome
Author / Creator:Fuchs, Jennifer C. ; Zinnamon, Fhatarah A. ; Taylor, Ruth R. ; Ivins, Sarah ; Scambler, Peter J. ; Forge, Andrew ; Tucker, Abigail S. ; Linden, Jennifer F.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-11, Vol.8 (11), p.e80104
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Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome
Author / Creator:Yu, Tian ; Meiners, Linda C ; Danielsen, Katrin ; Wong, Monica TY ; Bowler, Timothy ; Reinberg, Danny ; Scambler, Peter J ; van Ravenswaaij-Arts, Conny MA ; Basson, M Albert
Publisher:England: eLife Sciences Publications Ltd
Journal title:eLife, 2013-12, Vol.2, p.e01305-e01305
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Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder
Author / Creator:Katsanis, Nicholas ; Ansley, Stephen J. ; Badano, Jose L. ; Eichers, Erica R. ; Lewis, Richard Alan ; Hoskins, Bethan E. ; Scambler, Peter J. ; Davidson, William S. ; Beales, Philip L. ; Lupski, James R.
Publisher:Washington, DC: American Society for the Advancement of Science
Journal title:Science (American Association for the Advancement of Science), 2001-09, Vol.293 (5538), p.2256-2259
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ArticlesPeer ReviewedFull Text
Magnetic resonance virtual histology for embryos: 3D atlases for automated high-throughput phenotyping
Author / Creator:Cleary, Jon O. ; Modat, Marc ; Norris, Francesca C. ; Price, Anthony N. ; Jayakody, Sujatha A. ; Martinez-Barbera, Juan Pedro ; Greene, Nicholas D.E. ; Hawkes, David J. ; Ordidge, Roger J. ; Scambler, Peter J. ; Ourselin, Sebastien ; Lythgoe, Mark F.
Publisher:United States: Elsevier Inc
Journal title:NeuroImage (Orlando, Fla.), 2011-01, Vol.54 (2), p.769-778
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ArticlesPeer ReviewedFull Text
In Amnio MRI of Mouse Embryos
Author / Creator:Roberts, Thomas A. ; Norris, Francesca C. ; Carnaghan, Helen ; Savery, Dawn ; Wells, Jack A. ; Siow, Bernard ; Scambler, Peter J. ; Pierro, Agostino ; De Coppi, Paolo ; Eaton, Simon ; Lythgoe, Mark F.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014-10, Vol.9 (10), p.e109143-e109143
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22q11 Deletion Syndrome: A Role for TBX1 in Pharyngeal and Cardiovascular Development
Author / Creator:Scambler, Peter J.
Publisher:New York: Springer-Verlag
Journal title:Pediatric cardiology, 2010-04, Vol.31 (3), p.378-390
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Endogenous Retinoic Acid Activity in Principal Cells and Intercalated Cells of Mouse Collecting Duct System
Author / Creator:Wong, Yuen Fei ; Kopp, Jeffrey B. ; Roberts, Catherine ; Scambler, Peter J. ; Abe, Yoshifusa ; Rankin, Alexandra C. ; Dutt, Neelanjana ; Hendry, Bruce M. ; Xu, Qihe
Publisher:United States: Public Library of Science
Journal title:PloS one, 2011-02, Vol.6 (2), p.e16770
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22q11.2 deletion syndrome
Author / Creator:McDonald-McGinn, Donna M. ; Sullivan, Kathleen E. ; Marino, Bruno ; Philip, Nicole ; Swillen, Ann ; Vorstman, Jacob A. S. ; Zackai, Elaine H. ; Emanuel, Beverly S. ; Vermeesch, Joris R. ; Morrow, Bernice E. ; Scambler, Peter J. ; Bassett, Anne S.
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Disease primers, 2015-11, Vol.1 (1), p.15071-15071, Article 15071
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TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
Author / Creator:Davis, Erica E ; Zhang, Qi ; Liu, Qin ; Diplas, Bill H ; Davey, Lisa M ; Hartley, Jane ; Stoetzel, Corinne ; Szymanska, Katarzyna ; Ramaswami, Gokul ; Logan, Clare V ; Muzny, Donna M ; Young, Alice C ; Wheeler, David A ; Cruz, Pedro ; Morgan, Margaret ; Lewis, Lora R ; Cherukuri, Praveen ; Maskeri, Baishali ; Hansen, Nancy F ; Mullikin, James C ; Blakesley, Robert W ; Bouffard, Gerard G ; Gyapay, Gabor ; Rieger, Susanne ; Tönshoff, Burkhard ; Kern, Ilse ; Soliman, Neveen A ; Neuhaus, Thomas J ; Swoboda, Kathryn J ; Kayserili, Hulya ; Gallagher, Tomas E ; Lewis, Richard A ; Bergmann, Carsten ; Otto, Edgar A ; Saunier, Sophie ; Scambler, Peter J ; Beales, Philip L ; Gleeson, Joseph G ; Maher, Eamonn R ; Attié-Bitach, Tania ; Dollfus, Hélène ; Johnson, Colin A ; Green, Eric D ; Gibbs, Richard A ; Hildebrandt, Friedhelm ; Pierce, Eric A ; Katsanis, Nicholas
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2011-03, Vol.43 (3), p.189-196
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Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
Author / Creator:Schmidts, Miriam ; Arts, Heleen H ; Bongers, Ernie M H F ; Yap, Zhimin ; Oud, Machteld M ; Antony, Dinu ; Duijkers, Lonneke ; Emes, Richard D ; Stalker, Jim ; Yntema, Jan-Bart L ; Plagnol, Vincent ; Hoischen, Alexander ; Gilissen, Christian ; Forsythe, Elisabeth ; Lausch, Ekkehart ; Veltman, Joris A ; Roeleveld, Nel ; Superti-Furga, Andrea ; Kutkowska-Kazmierczak, Anna ; Kamsteeg, Erik-Jan ; Elçioğlu, Nursel ; van Maarle, Merel C ; Graul-Neumann, Luitgard M ; Devriendt, Koenraad ; Smithson, Sarah F ; Wellesley, Diana ; Verbeek, Nienke E ; Hennekam, Raoul C M ; Kayserili, Hulya ; Scambler, Peter J ; Beales, Philip L ; Knoers, Nine VAM ; Roepman, Ronald ; Mitchison, Hannah M
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2013-05, Vol.50 (5), p.309-323
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Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice
Author / Creator:Randall, Victoria ; McCue, Karen ; Roberts, Catherine ; Kyriakopoulou, Vanessa ; Beddow, Sarah ; Barrett, Angela N. ; Vitelli, Francesca ; Prescott, Katrina ; Shaw-Smith, Charles ; Devriendt, Koen ; Bosman, Erika ; Steffes, Georg ; Steel, Karen P. ; Simrick, Subreena ; Basson, M. Albert ; Illingworth, Elizabeth ; Scambler, Peter J.
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2009-11, Vol.119 (11), p.3301-3310
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Showing 1 to 20 of 53 results

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Mechanisms and cell lineages in lymphatic vascular development

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Neural crest–derived SEMA3C activates endothelial NRP1 for cardiac outflow tract septation

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Loss of CXCL12/CXCR4 signalling impacts several aspects of cardiovascular development but does not exacerbate Tbx1 haploinsufficiency

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Tbx1 Regulates the BMP-Smad1 Pathway in a Transcription Independent Manner

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Spatiotemporal dynamics and heterogeneity of renal lymphatics in mammalian development and cystic kidney disease

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IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy

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Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: Implications for 22q11 deletion syndrome

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HIRA Is Required for Heart Development and Directly Regulates Tnni2 and Tnnt3

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Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice

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Hearing Loss in a Mouse Model of 22q11.2 Deletion Syndrome

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Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome

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Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder

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Magnetic resonance virtual histology for embryos: 3D atlases for automated high-throughput phenotyping

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In Amnio MRI of Mouse Embryos

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22q11 Deletion Syndrome: A Role for TBX1 in Pharyngeal and Cardiovascular Development

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Endogenous Retinoic Acid Activity in Principal Cells and Intercalated Cells of Mouse Collecting Duct System

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22q11.2 deletion syndrome

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TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

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Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

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Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice

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