1 | DLL3, SCODO1
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| Notch inhibition by the ligand DELTA-LIKE 3 defines the mechanism of abnormal vertebral segmentation in spondylocostal dysostosis.
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| Chapman G, Sparrow DB, Kremmer E, Dunwoodie SL.
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| Hum Mol Genet 20(5):905-16. Epub 2010 Dec 7.
2011
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2 | DLL3, NOTCH1
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| Expression of Notch receptors, ligands and target genes during development of the mouse mammary gland.
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| Raafat A, Goldhar AS, Klauzinska M, Xu K, Amirjaz I, McCurdy D, Lashin K, Salomon D, Vonderhaar BK, Egan S, Callahan R.
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| J Cell Physiol Cell Physiol. 2010 Dec 6. [Epub ahead of print]
2010
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3 | DLL3, HES7, LFNG, MESP2
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| The role of Notch in patterning the human vertebral column.
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| Dunwoodie SL.
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| Curr Opin Genet Dev 19(4):329-37. Epub 2009 Jul 14. 2009
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4 | DLL3, HUWE1, MYCN, NOTCH1
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| The N-Myc-DLL3 cascade is suppressed by the ubiquitin ligase Huwe1 to inhibit proliferation and promote neurogenesis in the developing brain.
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| Zhao X, D' Arca D, Lim WK, Brahmachary M, Carro MS, Ludwig T, Cardo CC, Guillemot F, Aldape K, Califano A, Iavarone A, Lasorella A.
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| Dev Cell 17(2):210-21.
2009
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5 | ASCL1, DLL3, NEUROG2
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| Ascl1 and Neurog2 form novel complexes and regulate Delta-like3 (Dll3) expression in the neural tube.
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| Henke RM, Meredith DM, Borromeo MD, Savage TK, Johnson JE.
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| Dev Biol 328(2):529-40. Epub 2009 Jan 14. 2009
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6 | CFNS, DLL3, EFNB1, FOAR, FRNS, GPC3, LRP2, PAMD, SCDO1, SGBS, STRA6, UNK
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| Genetic aspects of human congenital diaphragmatic hernia.
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| Pober BR.
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| Clin Genet 74(1):1-15. Epub 2008 May 28. 2008
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7 | DLL1, DLL3
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| The intracellular region of Notch ligands Dll1 and Dll3 regulates their trafficking and signaling activity.
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| Heuss SF, Ndiaye-Lobry D, Six EM, Israël A, Logeat F.
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| Proc Natl Acad Sci U S A 105(32):11212-7. Epub 2008 Aug 1.
2008
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8 | DLL1, DLL3
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| Divergent functions and distinct localization of the Notch ligands DLL1 and DLL3 in vivo.
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| Geffers I, Serth K, Chapman G, Jaekel R, Schuster-Gossler K, Cordes R, Sparrow DB, Kremmer E, Dunwoodie SL, Klein T, Gossler A.
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| J Cell Biol 178(3):465-76.
2007
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9 | DLL3
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| DLL3 as a candidate gene for vertebral malformations.
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| Giampietro PF, Raggio CL, Reynolds C, Ghebranious N, Burmester JK, Glurich I, Rasmussen K, McPherson E, Pauli RM, Shukla SK, Merchant S, Jacobsen FS, Faciszewski T, Blank RD.
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| Am J Med Genet A 140(22):2447-53. 2006
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10 | DLL3
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| Molecular analysis of congenital scoliosis: a candidate gene approach.
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| Maisenbacher MK, Han JS, O'brien ML, Tracy MR, Erol B, Schaffer AA, Dormans JP, Zackai EH, Kusumi K.
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| Hum Genet 116(5):416-9. Epub 2005 Feb 17. 2005
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11 | DLL3, SCDO1
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| Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations.
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| Whittock NV, Ellard S, Duncan J, de Die-Smulders CE, Vles JS, Turnpenny PD.
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| Clin Genet 66(1):67-72. 2004
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12 | CADASIL, DLL1, Dll3, DLL4, JAG1, JAG2, NOTCH1, NOTCH2, NOTCH3, NOTCH4 , RBPJ, SCDO1
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| Notch signaling and inherited disease syndromes.
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| Gridley T.
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| Hum Mol Genet 12 Spec No 1:R9-13. Review. 2003
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13 | DLL3, SCDO1
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| Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis.
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| Turnpenny PD, Whittock N, Duncan J, Dunwoodie S, Kusumi K, Ellard S.
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| J Med Genet 40(5):333-9. 2003
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14 | DLL3, SCDO1
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| A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village.
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| Bonafe L, Giunta C, Gassner M, Steinmann B, Superti-Furga A.
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| Clin Genet 64(1):28-35. 2003
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15 | DLL3, SCDO1
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| Axial skeletal defects caused by mutation in the spondylocostal dysplasia/pudgy gene Dll3 are associated with disruption of the segmentation clock within the presomitic mesoderm.
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| Dunwoodie SL, Clements M, Sparrow DB, Sa X, Conlon RA, Beddington RS.
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| Development 129(7):1795-806. 2002
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16 | DLL3, SCDO1
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| Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.
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| Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Lander ES, Krumlauf R, Hattersley AT, Ellard S, Turnpenny PD.
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| Nat Genet 24(4):438-41. 2000
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17 | DLL3, SCDO1
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| A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.
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| Turnpenny PD, Bulman MP, Frayling TM, Abu-Nasra TK, Garrett C, Hattersley AT, Ellard S.
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| Am J Hum Genet 65(1):175-82. 1999
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