By Professor Sally Dunwoodie

Journal articles

Wu N; Ming X; Xiao J; Wu Z; Chen X; Shinawi M; Shen Y; Yu G; Liu J; Xie H; Gucev ZS; Liu S; Yang N; Al-Kateb H; Chen J; Zhang J; Hauser N; Zhang T; Tasic V; Liu P; Su X; Pan X; Liu C; Wang L; Shen J; Shen J; Chen Y; Zhang T; Zhang J; Choy KW; Wang J; Wang Q; Li S; Zhou W; Guo J; Wang Y; Zhang C; Zhao H; An Y; Zhao Y; Wang J; Liu Z; Zuo Y; Tian Y; Weng X; Sutton VR; Wang H; Ming Y; Kulkarni S; Zhong TP; Giampietro PF; Dunwoodie SL; Cheung SW; Zhang X; Jin L; Lupski JR; Qiu G; Zhang F, 2015, 'TBX6 null variants and a common hypomorphic allele in congenital scoliosis', New England Journal of Medicine, 372, pp. 341 - 350, http://dx.doi.org/10.1056/NEJMoa1406829

McInerney-Leo AM; Sparrow DB; Harris JE; Gardiner BB; Marshall MS; O'Reilly VC; Shi H; Brown MA; Leo PJ; Zankl A; Dunwoodie SL; Duncan EL, 2015, 'Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects', Human Molecular Genetics, 24, pp. 1234 - 1242, http://dx.doi.org/10.1093/hmg/ddu534

Blue GM; Kirk EP; Giannoulatou E; Dunwoodie SL; Ho JWK; Hilton DCK; White SM; Sholler GF; Harvey RP; Winlaw DS, 2014, 'Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease.', J Am Coll Cardiol, 64, pp. 2498 - 2506, http://dx.doi.org/10.1016/j.jacc.2014.09.048

Moreau JLM; Artap ST; Shi H; Chapman G; Leone G; Sparrow DB; Dunwoodie SL, 2014, 'Cited2 is required in trophoblasts for correct placental capillary patterning', Developmental Biology, 392, pp. 62 - 79, http://dx.doi.org/10.1016/j.ydbio.2014.04.023

O'Reilly VC; Lopes Floro K; Shi H; Chapman BE; Preis JI; James AC; Chapman G; Harvey RP; Johnson RS; Grieve SM; Sparrow DB; Dunwoodie SL, 2014, 'Gene-environment interaction demonstrates the vulnerability of the embryonic heart', Developmental Biology, 391, pp. 99 - 110, http://dx.doi.org/10.1016/j.ydbio.2014.03.005

Du J; Li Q; Tang F; Puchowitz MA; Fujioka H; Dunwoodie SL; Danielpour D; Yang YC, 2014, 'Cited2 is required for the maintenance of glycolytic metabolism in adult hematopoietic stem cells', Stem Cells and Development, 23, pp. 83 - 94, http://dx.doi.org/10.1089/scd.2013.0370

Li Q; Hakimi P; Liu X; Yu WM; Ye F; Fujioka H; Raza S; Shankar E; Tang F; Dunwoodie SL; Danielpour D; Hoppel CL; Ramírez-Bergeron DL; Qu CK; Hanson RW; Yang YC, 2014, 'Cited2, a transcriptional modulator protein, regulates metabolism in murine embryonic stem cells', Journal of Biological Chemistry, 289, pp. 251 - 263, http://dx.doi.org/10.1074/jbc.M113.497594

James AC; Szot JO; Iyer K; Major JA; Pursglove SE; Chapman G; Dunwoodie SL, 2014, 'Notch4 reveals a novel mechanism regulating Notch signal transduction', Biochimica Et Biophysica Acta Molecular Cell Research, 1843, pp. 1272 - 1284, http://dx.doi.org/10.1016/j.bbamcr.2014.03.015

Du J; Li Q; Tang F; Puchowitz M; Fujioka H; Dunwoodie S; Danielpour D; Yang Y-C, 2013, 'Cited2 Is Required For The Maintenance Of Glycolytic Metabolism In Adult Hematopoietic Stem Cells', Blood, 122, pp. 794 - 794, http://dx.doi.org/10.1182/blood.v122.21.794.794

Sparrow DB; Faqeih EA; Sallout B; Alswaid A; Ababneh F; Al-Sayed M; Rukban H; Eyaid WM; Kageyama R; Ellard S; Turnpenny PD; Dunwoodie SL, 2013, 'Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus', American Journal of Medical Genetics Part A, 161, pp. 2244 - 2249, http://dx.doi.org/10.1002/ajmg.a.36073

Méniel V; Song F; Phesse T; Young M; Poetz O; Parry L; Jenkins JR; Williams GT; Dunwoodie SL; Watson A; Clarke AR, 2013, 'Cited1 Deficiency Suppresses Intestinal Tumorigenesis', Plos Genetics, 9, http://dx.doi.org/10.1371/journal.pgen.1003638

Dunwoodie SL; Hamada H, 2013, 'Ways, means and consequences of shaping morphogen gradients', Current Opinion in Genetics and Development, 23, pp. 361 - 362, http://dx.doi.org/10.1016/j.gde.2013.07.005

Sparrow DB; McInerney-Leo A; Gucev ZS; Gardiner B; Marshall M; Leo PJ; Chapman DL; Tasic V; Shishko A; Brown MA; Duncan EL; Dunwoodie SL, 2013, 'Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6', Human Molecular Genetics, 22, pp. 1625 - 1631, http://dx.doi.org/10.1093/hmg/ddt012

Chapman G; Smith AJ; Mattar MZ; Major J; O''reilly VC; Saga Y; Zackai EH; Dormans JP; Alman B; Mcgregor L; Kageyama R; Kusumi K; Dunwoodie SL, 2012, 'A mechanism for gene-environment interaction in the etiology of congenital scoliosis', Cell, 149, pp. 295 - 306, http://dx.doi.org/10.1016/j.cell.2012.02.054

Li Q; Ramirez-bergeron D; Dunwoodie SL; Yang Y, 2012, 'Cited2 gene controls pluripotency and cardiomyocyte differentiation of murine embryonic stem cells through Oct4 gene', The Journal of Biological Chemistry, 287, pp. 29088 - 29100, http://dx.doi.org/10.1074/jbc.M112.378034

Dunwoodie SL; Huang T; Wang YW; Ebrahem Q; Chen Y; Cheng C; Doughman YQ; Watanabe M; Yang Y, 2012, 'Deletion of HIF-1 alpha partially rescues the abnormal hyaloid vascular system in Cited2 conditional knockout mouse eyes', Molecular Vision, 18, pp. 1260 - 1270

Du J; Chen Y; Li Q; Han X; Cheng C; Wang Z; Danielpour D; Dunwoodie SL; Bunting KD; Yang Y-C, 2012, 'HIF-1 deletion partially rescues defects of hematopoietic stem cell quiescence caused by Cited2 deficiency', Blood, 119, pp. 2789 - 2798, http://dx.doi.org/10.1182/blood-2011-10-387902

Du J; Chen Y; Li Q; Wang Z; Dunwoodie S; Bunting KD; Yang Y-C, 2011, 'Cited2 Regulates Hematopoietic Stem Cell Quiescence Through HIF-1α Dependent and Independent Pathways', Blood, 118, pp. 912, http://dx.doi.org/10.1182/blood.v118.21.912.912

Qian L; Wythe JD; Liu J; Cartry J; Vogler G; Mohapatra B; Otway RT; Huang Y; King IN; Maillet M; Zheng Y; Crawley T; Taghli-Lamallem O; Semsarian C; Dunwoodie S; Winlaw D; Harvey RP; Fatkin D; Towbin JA; Molkentin JD; Srivastava D; Ocorr K; Bruneau BG; Bodmer R, 2011, 'Tinman/Nkx2-5 acts via miR-1 and upstream of Cdc42 to regulate heart function across species', Journal of Experimental Medicine, 208, pp. i20 - i20, http://dx.doi.org/10.1084/jem2087oia20

Qian L; Wythe JD; Liu J; Cartry J; Vogler G; Mohapatra B; Otway RT; Huang Y; King IN; Maillet M; Zheng Y; Crawley T; Taghli-Lamallem O; Semsarian C; Dunwoodie S; Winlaw D; Harvey RP; Fatkin D; Towbin JA; Molkentin JD; Srivastava D; Ocorr K; Bruneau BG; Bodmer R, 2011, 'Tinman/Nkx2-5 acts via miR-1 and upstream of Cdc42 to regulate heart function across species.', J Cell Biol, 193, pp. 1181 - 1196, http://dx.doi.org/10.1083/jcb.201006114

Lopes Floro K; Artap ST; Preis JI; Fatkin D; Chapman G; Furtado MB; Harvey RP; Hamada H; Sparrow DB; Dunwoodie SL, 2011, 'Loss of Cited2 causes congenital heart disease by perturbing left-right patterning of the body axis.', Hum Mol Genet, 20, pp. 1097 - 1110, http://dx.doi.org/10.1093/hmg/ddq554

Hoyne GF; Chapman G; Sontani ; Pursglove S; Dunwoodie SL, 2011, 'A cell autonomous role for the Notch ligand Delta-like 3 in alphabeta T-cell development', Immunology and Cell Biology, 89, pp. 696 - 705, http://dx.doi.org/10.1038/icb.2010.154

Costa M; Lee S; Furtado MB; Xin L; Sparrow DB; Martinez C; Dunwoodie SL; Kurtenbach E; Mohun T; Rosenthal N; Harvey RP, 2011, 'Complex SUMO-1 regulation of cardiac transcription factor Nkx2-5', PLoS ONE, 6, pp. e24812 - e24825, http://dx.doi.org/10.1371/journal.pone.0024812

Sontani ; Chapman G; Papathanasiou P; Dunwoodie SL; Goodnow CC; Hoyne GF, 2011, 'Cooperation between somatic Ikaros and Notch1 mutations at the inception of T-ALL', Leukemia Research, 35, pp. 1512 - 1519, http://dx.doi.org/10.1016/j.leukres.2011.07.024

Chapman G; Sparrow DB; Kremmer E; Dunwoodie SL, 2011, 'Notch inhibition by the ligand Delta-like 3 defines the mechanism of abnormal vertebral segmentation in spondylocostal dysostosis', Human Molecular Genetics, 20, pp. 905 - 916, http://dx.doi.org/10.1093/hmg/ddq529

Dunwoodie SL; Sparrow DB; Chapman G, 2011, 'The mouse notches up another success: understanding the causes of human vertebral malformation', Mammalian Genome, 22, pp. 362 - 376, http://dx.doi.org/10.1007/s00335-011-9335-5

Combes A; Spiller C; Harley V; Sinclair AH; Dunwoodie SL; Wilhelm D; Koopman P, 2010, 'Gonadal defects in Cited2-mutant mice indicate a role for SF1 in both testis and ovary differentiation', International Journal of Developmental Biology, 54, pp. 683 - 689, http://dx.doi.org/10.1387/ijdb.092920ac

Chen Y; Carlson E; Chen Z; Hamik A; Jain MK; Dunwoodie SL; Yang Y, 2009, 'Conditional deletion of Cited2 results in defective corneal epithelial morphogenesis and maintenance', Developmental Biology, 334, pp. 243 - 252, http://dx.doi.org/10.1016/j.ydbio.2009.07.028

Sewell WA; Sparrow DB; Smith A; Gonzalez D; Rappaport E; Dunwoodie SL; Kusumi K, 2009, 'Cyclical expression of the Notch/Wnt regulator Nrarp requires modulation by Dll3 in somitogenesis', Developmental Biology, 329, pp. 400 - 409, http://dx.doi.org/10.1016/j.ydbio.2009.02.023

Dunwoodie SL, 2009, 'Mutation of the fucose-specific beta 1,3 N-acetylglucosaminyltransferase LFNG results in abnormal formation of the spine', Biochimica et Biophysica ACTA - Molecular Basis of Disease, 1792, pp. 100 - 111, http://dx.doi.org/10.1016/j.bbadis.2008.11.003

Sparrow DB; Boyle S; Sams R; Mazuruk B; Zhang L; Moeckel G; Dunwoodie SL; de Caestecker MP, 2009, 'Placental insufficiency associated with loss of Cited1 causes renal medullary dysplasia', Journal of the American Society of Nephrology, 20, pp. 777 - 786, http://dx.doi.org/10.1681/ASN.2008050547

Giampietro P; Dunwoodie SL; Kusumi K; Pourquie O; Tassy O; Offiah AC; Cornier A; Alman B; Blank R; Raggio C; Glurich I; Turnpenny PD, 2009, 'Progress in the understanding of the genetic etiology of vertebral segmentation disorders in humans', Annals of the New York Academy of Sciences, 1151, pp. 38 - 67, http://dx.doi.org/10.1111/j.1749-6632.2008.03452.x

Dunwoodie SL, 2009, 'Reprint of mutation of the fucose-specific beta1,3 N-acetylglucosaminyltransferase LFNG results in abnormal formation of the spine.', Biochimica et Biophysica Acta, 1792, pp. 862 - 873

Dunwoodie SL, 2009, 'The Role of Hypoxia in Development of the Mammalian Embryo', Developmental Cell, 17, pp. 755 - 773, http://dx.doi.org/10.1016/j.devcel.2009.11.008

Dunwoodie SL, 2009, 'The role of Notch in patterning the human vertebral column', Current Opinion in Genetics and Development, 19, pp. 329 - 337, http://dx.doi.org/10.1016/j.gde.2009.06.005

Sparrow DB; Guillén-Navarro E; Fatkin D; Dunwoodie SL, 2008, 'Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis.', Hum Mol Genet, 17, pp. 3761 - 3766, http://dx.doi.org/10.1093/hmg/ddn272

Giampietro PF; Dunwoodie SL; Kusumi K; Pourquié O; Tassy O; Offiah AC; Cornier AS; Alman BA; Blank RD; Raggio CL; Glurich I; Turnpenny PD, 2008, 'Molecular diagnosis of vertebral segmentation disorders in humans', Expert Opinion on Medical Diagnostics, 2, pp. 1107 - 1121, http://dx.doi.org/10.1517/17530059.2.10.1107

Loomes KM; Stevens SA; O'Brien ML; Gonzalez DM; Ryan MJ; Segalov M; Dormans NJ; Mimoto MS; Gibson JD; Sewell W; Schaffer AA; Nah HD; Rappaport EF; Pratt SC; Dunwoodie SL; Kusumi K, 2008, 'Dll3 and Notchl genetic interactions model axial segmental and craniofacial malformations of human birth defects (Developmental Dynamics 236, (2943-2951))', Developmental Dynamics, 237, pp. 1754, http://dx.doi.org/10.1002/dvdy.21580

Furtado MB; Solloway MJ; Jones V; Costa M; Biben C; Wolstein O; Preis JI; Sparrow DB; Saga Y; Dunwoodie SL; Robertson E; Tam P; Harvey RP, 2008, 'BMP/SMAD1 signaling sets a threshold for the left/right pathway in lateral plate mesoderm and limits availability of SMAD4', Genes and Development, 22, pp. 3037 - 3049

Xu B; Qu X; Gu S; Doughman Y; Watanabe M; Dunwoodie SL; Yang Y, 2008, 'Cited2 is required for fetal lung maturation', Developmental Biology, 317, pp. 95 - 105, http://dx.doi.org/10.1016/j.ydbio.2008.02.019

Chen Y; Doughman Y; Gu S; Jarrell A; Aota S; Cvekl A; Watanabe M; Dunwoodie SL; Johnson R; van Heyningen V; Kleinjan D; Beebe D; Yang Y, 2008, 'Cited2 is required for the proper formation of the hyaloid vasculature and for lens morphogenesis', Development (Cambridge), 135, pp. 2939 - 2948

Blewitt M; Gendrel A; Pang Z; Sparrow DB; Whitelaw N; Apedaile A; Hilton DJ; Dunwoodie SL; Brockdorff N; Kay G; Whitelaw E, 2008, 'SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation', Nature Genetics, 40, pp. 663 - 669, http://dx.doi.org/10.1038/ng.142

Coman D; Bacic S; Boys A; Sparrow DB; Dunwoodie SL; Savarirayan R; Amor D, 2008, 'Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p', American Journal of Medical Genetics Part A, 146A, pp. 1972 - 1976

Geffers I; Serth K; Chapman G; Jaekel R; Schuster-Gossler K; Cordes R; Sparrow DB; Kremmer E; Dunwoodie SL; Klein T; Gossler A, 2007, 'Divergent functions and distinct localization of the Notch ligands DLL1 and DLL3 in vivo', Journal of Experimental Medicine, 204, pp. i20 - i20, http://dx.doi.org/10.1084/jem2048oia20

Turnpenny PD; Alman B; Cornier A; Giampietro P; Offiah A; Tassy O; Pourquie O; Kusumi K; Dunwoodie SL, 2007, 'Abnormal vertebral segmentation and the notch signaling pathway in man', Developmental Dynamics, 236, pp. 1456 - 1474

Qu XJ; Lam E; Doughman Y; Chen Y; Chou Y; Lam MK; Turakhia M; Dunwoodie SL; Watanabe M; Xu B; Duncan S; Yang YW, 2007, 'Cited2, a coactivator of HNF4a, is essential for liver development', European Molecular Biology Organization, 26, pp. 4445 - 4456

Dunwoodie SL, 2007, 'Combinatorial signaling in the heart orchestrates cardiac induction, lineage specification and chamber formation', Seminars in Cell and Developmental Biology, 18, pp. 54 - 66

Loomes K; Stevens S; O Brien ML; Gonzalez D; Ryan MJ; Segalov M; Dormans N; Mimoto M; Gibson G; Schaffer A; Nah H; Rappaport E; Pratt S; Dunwoodie SL; Kusumi K, 2007, 'D113 and Notch1 genetic interactions model axial segmental and craniofacial malformations of human birth defects', Developmental Dynamics, 236, pp. 2943 - 2951

Sparrow DB; Chapman G; Turnpenny PD; Dunwoodie SL, 2007, 'Disruption of the somitic molecular clock causes abnormal vertebral segmentation', Birth Defects Research Part C: Embryo Today: Reviews, 81 (2), pp. 93 - 110

Geffers I; Serth K; Chapman G; Jaekel R; Schuster-Gossler K; Cordes R; Sparrow DB; Kremmer E; Dunwoodie SL; Klein T; Gossler A, 2007, 'Divergent functions and distinct localization of the Notch ligands DLL1 and DLL3 in vivo', Journal of Cell Biology, 178, pp. 465 - 476

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