Works by Scambler, Peter J.

Results: 49

CHARGE syndrome-associated CHD7 acts at ISL1-regulated enhancers to modulate second heart field gene expression.

Published in:

Cardiovascular Research, 2023, v. 119, n. 11, p. 2089, doi. 10.1093/cvr/cvad059

By:

Stathopoulou, Athanasia;
Wang, Ping;
Thellier, Charlotte;
Kelly, Robert G;
Zheng, Deyou;
Scambler, Peter J

Publication type:

Article

XTbx1 is a transcriptional activator involved in head and pharyngeal arch development in Xenopus laevis.

Published in:

Developmental Dynamics, 2005, v. 232, n. 4, p. 979

By:

Paris Ataliotis;
Sarah Ivins;
Timothy J. Mohun;
Peter J. Scambler

Publication type:

Article

Retinoic acid down-regulates Tbx1 expression in vivo and in vitro.

Published in:

Developmental Dynamics, 2005, v. 232, n. 4, p. 928

By:

Catherine Roberts;
Sarah M. Ivins;
Chela T. James;
Peter J. Scambler

Publication type:

Article

DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 3, p. 529, doi. 10.1093/hmg/ddx422

By:

Hartill, Verity L.;
van de Hoek, Glenn;
Patel, Mitali P.;
Little, Rosi;
Watson, Christopher M.;
Berry, Ian R.;
Shoemark, Ameli;
Abdelmottaleb, Din;
Parkes, Emm;
Bacchelli, Chiar;
Szymanska, Katarzyn;
Knoers, Nine V.;
Scambler, Peter J.;
Ueffing, Marius;
Boldt, Karste;
Yates, Rober;
Winyard, Paul J.;
Adler, Bery;
Moya, Eduard;
Hattingh, Louis

Publication type:

Article

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

Published in:

PLoS ONE, 2016, v. 11, n. 8, p. 1, doi. 10.1371/journal.pone.0161096

By:

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.

Publication type:

Article

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

Published in:

Nature Genetics, 2007, v. 39, n. 6, p. 727, doi. 10.1038/ng2038

By:

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.

Publication type:

Article

Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs.

Published in:

Nature Genetics, 2005, v. 37, n. 5, p. 520, doi. 10.1038/ng1549

By:

Jadeja, Shalini;
Smyth, Ian;
Pitera, Jolanta E;
Taylor, Martin S;
van Haelst, Mieke;
Bentley, Elizabeth;
McGregor, Lesley;
Hopkins, Jason;
Chalepakis, Georges;
Philip, Nicole;
Perez Aytes, Antonio;
Watt, Fiona M;
Darling, Susan M;
Jackson, Ian;
Woolf, Adrian S;
Scambler, Peter J

Publication type:

Article

A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1.

Published in:

Nature Genetics, 2004, v. 36, n. 2, p. 172, doi. 10.1038/ng1292

By:

Takamiya, Kogo;
Kostourou, Vassiliki;
Adams, Susanne;
Jadeja, Shalini;
Chalepakis, Georges;
Scambler, Peter J.;
Huganir, Richard L.;
Adams, Ralf H.

Publication type:

Article

Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice.

Published in:

Nature Genetics, 2003, v. 34, n. 2, p. 209, doi. 10.1038/ng1168

By:

Vrontou, Sophia;
Petrou, Petros;
Meyer, Barbara I;
Galanopoulos, Vassilis K;
Imai, Kenji;
Yanagi, Masayuki;
Chowdhury, Kamal;
Scambler, Peter J;
Chalepakis, Georges

Publication type:

Article

HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3.

Published in:

Nature Genetics, 1998, v. 20, n. 1, p. 74, doi. 10.1038/1739

By:

Magnaghi, Paola;
Roberts, Catherine;
Lorain, Stéphanie;
Lipinski, Marc;
Scambler, Peter J.

Publication type:

Article

HIRA directly targets the enhancers of selected cardiac transcription factors during in vitro differentiation of mouse embryonic stem cells.

Published in:

Molecular Biology Reports, 2018, v. 45, n. 5, p. 1001, doi. 10.1007/s11033-018-4247-z

By:

Saleh, Rasha Noureldin M.;
Dilg, Daniel;
Abou Zeid, Abla A.;
Hashad, Doaa I.;
Scambler, Peter J.;
Chapgier, Ariane L. A.

Publication type:

Article

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

Published in:

Pediatric Cardiology, 2010, v. 31, n. 3, p. 378, doi. 10.1007/s00246-009-9613-0

By:

Scambler, Peter J.

Publication type:

Article

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

Published in:

PLoS ONE, 2018, v. 13, n. 11, p. 1, doi. 10.1371/journal.pone.0207251

By:

Page, Mahalia;
Ridge, Liam;
Gold Diaz, Diana;
Tsogbayar, Tsolmon;
Scambler, Peter J.;
Ivins, Sarah

Publication type:

Article

Cardiac phenotyping in ex vivo murine embryos using µMRI.

Published in:

NMR in Biomedicine, 2009, v. 22, n. 8, p. 857, doi. 10.1002/nbm.1400

By:

Cleary, Jon O.;
Price, Anthony N.;
Thomas, David L.;
Scambler, Peter J.;
Kyriakopoulou, Vanessa;
McCue, Karen;
Schneider, Jürgen E.;
Ordidge, Roger J.;
Lythgoe, Mark F.

Publication type:

Article

Evaluation of multiplex capillary heteroduplex analysis: A rapid and sensitive mutation screening technique (Communicated by Mireille Claustres).

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 151, doi. 10.1002/humu.10241

By:

Bethan E. Hoskins;
Anita Thorn;
Peter J. Scambler;
Philip L. Beales

Publication type:

Article

Evaluation of multiplex capillary heteroduplex analysis: A rapid and sensitive mutation screening techniqueCommunicated by Mireille Claustres.

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 151, doi. 10.1002/humu.10241

By:

Bethan E. Hoskins;
Anita Thorn;
Peter J. Scambler;
Philip L. Beales

Publication type:

Article

A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome.

Published in:

Human Mutation, 2002, v. 19, n. 5, p. 573, doi. 10.1002/humu.9036

By:

Innis, Jeffrey W.;
Goodman, Frances R.;
Bacchelli, Chiara;
Williams, Thomas M.;
Mortlock, Douglas P.;
Sateesh, Praveen;
Scambler, Peter J.;
McKinnon, Wendy;
Guttmacher, Alan E.

Publication type:

Article

Generation of mice with a conditional null fraser syndrome 1 ( Fras1) allele.

Published in:

Genesis: The Journal of Genetics & Development, 2012, v. 50, n. 12, p. 892, doi. 10.1002/dvg.22045

By:

Pitera, Jolanta E.;
Turmaine, Mark;
Woolf, Adrian S.;
Scambler, Peter J.

Publication type:

Article

Generation of mice with a conditional null fraser syndrome 1 ( fras1) allele.

Published in:

Genesis: The Journal of Genetics & Development, 2012, v. 50, n. 11, p. 851, doi. 10.1002/dvg.22356

By:

Pitera, Jolanta E.;
Turmaine, Mark;
Woolf, Adrian S.;
Scambler, Peter J.

Publication type:

Article

Increased nuchal translucency origins from abnormal lymphatic development and is independent of the presence of a cardiac defect.

Published in:

2015

By:

Burger, Nicole B.;
Bekker, Mireille N.;
Kok, Evelien;
De Groot, Christianne J. M.;
Martin, James F.;
Shou, Weinian;
Scambler, Peter J.;
Lee, Youngsook;
Christoffels, Vincent M.;
Haak, Monique C.

Publication type:

journal article

Clinical and molecular effects of CHD7 in the heart.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 4, p. 487, doi. 10.1002/ajmg.c.31590

By:

Corsten‐Janssen, Nicole;
Scambler, Peter J.

Publication type:

Article

Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mince.

Published in:

Nature, 2001, v. 410, n. 6824, p. 97, doi. 10.1038/35065105

By:

Lindsay, Elizabeth A.;
Vitelli, Francesca;
Hong Su;
Morishima, Masae;
Tuong Huynh;
Pramparo, Tiziano;
Jurecic, Vesna;
Ogunrinu, George;
Sutherland, Helen F.;
Scambler, Peter J.;
Bradley, Allan;
Baldini, Antonio

Publication type:

Article

Engineering a broken heart.

Published in:

Nature, 1999, v. 401, n. 6751, p. 335, doi. 10.1038/43804

By:

Scambler, Peter J.

Publication type:

Article

Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.

Published in:

Nature Communications, 2016, v. 7, n. 3, p. 11270, doi. 10.1038/ncomms11270

By:

Schmidts, Miriam;
Hou, Yuqing;
Cortés, Claudio R.;
Mans, Dorus A.;
Huber, Celine;
Boldt, Karsten;
Patel, Mitali;
van Reeuwijk, Jeroen;
Plaza, Jean-Marc;
van Beersum, Sylvia E. C.;
Yap, Zhi Min;
Letteboer, Stef J. F.;
Taylor, S. Paige;
Herridge, Warren;
Johnson, Colin A.;
Scambler, Peter J.;
Ueffing, Marius;
Kayserili, Hulya;
Krakow, Deborah;
King, Stephen M.

Publication type:

Article

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.

Published in:

Nature Communications, 2015, v. 6, n. 6, p. 7074, doi. 10.1038/ncomms8074

By:

Schmidts, Miriam;
Hou, Yuqing;
Cortés, Claudio R.;
Mans, Dorus A.;
Huber, Celine;
Boldt, Karsten;
Patel, Mitali;
van Reeuwijk, Jeroen;
Plaza, Jean-Marc;
van Beersum, Sylvia E. C.;
Yap, Zhi Min;
Letteboer, Stef J. F.;
Taylor, S. Paige;
Herridge, Warren;
Johnson, Colin A.;
Scambler, Peter J.;
Ueffing, Marius;
Kayserili, Hulya;
Krakow, Deborah;
King, Stephen M.

Publication type:

Article

An FDA-Approved Drug Screen for Compounds Influencing Craniofacial Skeletal Development and Craniosynostosis.

Published in:

Molecular Syndromology, 2019, v. 10, n. 1/2, p. 98, doi. 10.1159/000491567

By:

Seda, Marian;
Geerlings, Maartje;
Lim, Peggy;
Jeyabalan-Srikaran, Jeshmi;
Cichon, ann-Christin;
Scambler, Peter J.;
Beales, Philip L.;
Hernandez-Hernandez, Victor;
Stoker, andrew W.;
Jenkins, Dagan

Publication type:

Article

Diffusion microscopic MRI of the mouse embryo: Protocol and practical implementation in the splotch mouse model.

Published in:

Magnetic Resonance in Medicine, 2015, v. 73, n. 2, p. 731, doi. 10.1002/mrm.25145

By:

Norris, Francesca C.;
Siow, Bernard M.;
Cleary, Jon O.;
Wells, Jack A.;
Castro, Sandra C.P.;
Ordidge, Roger J.;
Greene, Nicholas D.E.;
Copp, Andrew J.;
Scambler, Peter J.;
Alexander, Daniel. C.;
Lythgoe, Mark F.

Publication type:

Article

Enhanced tissue differentiation in the developing mouse brain using magnetic resonance micro-histology.

Published in:

Magnetic Resonance in Medicine, 2013, v. 70, n. 5, p. 1380, doi. 10.1002/mrm.24573

By:

Norris, Francesca C.;
Betts‐Henderson, Joanne;
Wells, Jack A.;
Cleary, Jon O.;
Siow, Bernard M.;
Walker‐Samuel, Simon;
McCue, Karen;
Salomoni, Paolo;
Scambler, Peter J.;
Lythgoe, Mark F.

Publication type:

Article

Segmentation propagation using a 3D embryo atlas for high-throughput MRI phenotyping: Comparison and validation with manual segmentation.

Published in:

Magnetic Resonance in Medicine, 2013, v. 69, n. 3, p. 877, doi. 10.1002/mrm.24306

By:

Norris, Francesca C.;
Modat, Marc;
Cleary, Jon O.;
Price, Anthony N.;
McCue, KarEN;
Scambler, Peter J.;
Ourselin, SebastiEN;
Lythgoe, Mark F.

Publication type:

Article

SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 8, p. 1547, doi. 10.1093/hmg/ddr032

By:

Aza-Carmona, Miriam;
Shears, Debbie J.;
Yuste-Checa, Patricia;
Barca-Tierno, Verónica;
Hisado-Oliva, Alfonso;
Belinchón, Alberta;
Benito-Sanz, Sara;
Rodríguez, J. Ignacio;
Argente, Jesús;
Campos-Barros, Ángel;
Scambler, Peter J.;
Heath, Karen E.

Publication type:

Article

An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 7, p. 1306, doi. 10.1093/hmg/ddr013

By:

Rix, Suzanne;
Calmont, Amelie;
Scambler, Peter J.;
Beales, Philip L.

Publication type:

Article

Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 24, p. 3953, doi. 10.1093/hmg/ddn297

By:

Pitera, Jolanta E.;
Scambler, Peter J.;
Woolf, Adrian S.

Publication type:

Article

Cyp26 genes a1, b1 and c1 are down-regulated in Tbx1 null mice and inhibition of Cyp26 enzyme function produces a phenocopy of DiGeorge Syndrome in the chick.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 23, p. 3394, doi. 10.1093/hmg/ddl416

By:

Roberts, Catherine;
Ivins, Sarah;
Cook, Andrew C.;
Baldini, Antonio;
Scambler, Peter J.

Publication type:

Article

In Amnio MRI of Mouse Embryos.

Published in:

PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0109143

By:

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.

Publication type:

Article

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

Published in:

PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0080104

By:

Fuchs, Jennifer C.;
Zinnamon, Fhatarah A.;
Taylor, Ruth R.;
Ivins, Sarah;
Scambler, Peter J.;
Forge, Andrew;
Tucker, Abigail S.;
Linden, Jennifer F.

Publication type:

Article

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

Published in:

PLoS ONE, 2011, v. 6, n. 2, p. 1, doi. 10.1371/journal.pone.0016770

By:

Wong, Yuen Fei;
Kopp, Jeffrey B.;
Roberts, Catherine;
Scambler, Peter J.;
Abe, Yoshifusa;
Rankin, Alexandra C.;
Dutt, Neelanjana;
Hendry, Bruce M.;
Qihe Xu

Publication type:

Article

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

Published in:

PLoS ONE, 2009, v. 4, n. 6, p. 1, doi. 10.1371/journal.pone.0006049

By:

Fulcoli, F. Gabriella;
Huynh, Tuong;
Scambler, Peter J.;
Baldini, Antonio

Publication type:

Article

Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 8, p. 1077, doi. 10.1093/hmg/ddi120

By:

Mills, Philippa B.;
Surtees, Robert A.H.;
Champion, Michael P.;
Beesley, Clare E.;
Dalton, Neil;
Scambler, Peter J.;
Heales, Simon J.R.;
Briddon, Anthony;
Scheimberg, Irene;
Hoffmann, Georg F.;
Zschocke, Johannes;
Clayton, Peter T.

Publication type:

Article

Common arterial trunk associated with a homeodomain mutation of NKX2.6.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 5, p. 585, doi. 10.1093/hmg/ddi055

By:

Heathcote, Kirsten;
Braybrook, Claire;
Abushaban, Lulu;
Guy, Michelle;
Khetyar, Maher E.;
Patton, Michael A.;
Carter, Nicholas D.;
Scambler, Peter J.;
Syrris, Petros

Publication type:

Article

The 22q11 deletion syndromes.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 16, doi. 10.1093/hmg/9.16.2421

By:

Scambler, Peter J.

Publication type:

Article

Deletion of 150 kb in the minimal DiGeorge/velocardiofacial syndrome critical region in mouse.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 12, p. 2229, doi. 10.1093/hmg/8.12.2229

By:

Kimber, Wendy L.;
Hsieh, Patrick;
Hirotsune, Shinji;
Yuva-Paylor, Lisa;
Sutherland, Helen F.;
Chen, Amy;
Ruiz-Lozano, Pilar;
Hoogstraten-Miller, Shelley L.;
Chien, Kenneth R.;
Paylor, Richard;
Scambler, Peter J.;
Wynshaw-Boris, Anthony

Publication type:

Article

ES2, a gene deleted in DiGeorge syndrome, encodes a nuclear protein and is expressed during early mouse development, where it shares an expression domain with a Goosecoid-like gene.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 4, p. 629, doi. 10.1093/hmg/7.4.629

By:

Lindsay, Elizabeth A.;
Harvey, Emma L.;
Scambler, Peter J.;
Baldini, Antonio

Publication type:

Article

Cloning and Developmental Expression Analysis of Chick Hira (Chira), a Candidate Gene for DiGeorge Syndrome.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 2, p. 237, doi. 10.1093/hmg/6.2.237

By:

Roberts, Catherine;
Daw, Sara C. M.;
Halford, Stephanie;
Scambler, Peter J.

Publication type:

Article

Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2099

By:

Halford, Stephanle;
Wadey, Roy;
Roberts, Catherine;
Daw, Sara C.M.;
Whiting, Jennifer A.;
O'Donnell, Hllary;
Dunham, Ian;
Bentley, David;
Lindsay, Elizabeth;
BaldInI, Antonio;
Francis, Fiona;
Lehrach, Hans;
Williamson, Robert;
Wilson, David I.;
Goodship, Judith;
Cross, Ian;
Burn, John;
Scambler, Peter J.

Publication type:

Article

Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 2, p. 191

By:

Halford, Stephanie;
Lindsay, Elizabeth;
Nayudu, Manimekalai;
Carey, Alisoun H.;
Baldini, Antonio;
Scambler, Peter J.

Publication type:

Article

Molecular genetics of 22q11.2 deletion syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2070, doi. 10.1002/ajmg.a.40504

By:

Morrow, Bernice E.;
McDonald‐McGinn, Donna M.;
Emanuel, Beverly S.;
Vermeesch, Joris R.;
Scambler, Peter J.

Publication type:

Article

CHD7 Maintains Neural Stem Cell Quiescence and Prevents Premature Stem Cell Depletion in the Adult Hippocampus.

Published in:

Stem Cells, 2015, v. 33, n. 1, p. 196, doi. 10.1002/stem.1822

By:

Jones, Kieran M.;
Sarić, Nemanja;
Russell, John P.;
Andoniadou, Cynthia L.;
Scambler, Peter J.;
Basson, M. Albert

Publication type:

Article

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

Published in:

Journal of Clinical Investigation, 2015, v. 125, n. 7, p. 2661, doi. 10.1172/JCI79668

By:

Plein, Alice;
Calmont, Amelie;
Fantin, Alessandro;
Denti, Laura;
Anderson, Naomi A.;
Scambler, Peter J.;
Ruhrberg, Christiana

Publication type:

Article

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

Published in:

2009

By:

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.

Publication type:

journal article