Kusumi K - Search Results

1

Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.

Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Lander ES, Krumlauf R, Hattersley AT, Ellard S, Turnpenny PD. Bulman MP, et al. Among authors: kusumi k. Nat Genet. 2000 Apr;24(4):438-41. doi: 10.1038/74307. Nat Genet. 2000. PMID: 10742114

2

The mouse pudgy mutation disrupts Delta homologue Dll3 and initiation of early somite boundaries.

Kusumi K, Sun ES, Kerrebrock AW, Bronson RT, Chi DC, Bulotsky MS, Spencer JB, Birren BW, Frankel WN, Lander ES. Kusumi K, et al. Nat Genet. 1998 Jul;19(3):274-8. doi: 10.1038/961. Nat Genet. 1998. PMID: 9662403

3

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.

Turnpenny PD, Whittock N, Duncan J, Dunwoodie S, Kusumi K, Ellard S. Turnpenny PD, et al. Among authors: kusumi k. J Med Genet. 2003 May;40(5):333-9. doi: 10.1136/jmg.40.5.333. J Med Genet. 2003. PMID: 12746394 Free PMC article.

4

Dynamic expression patterns of the pudgy/spondylocostal dysostosis gene Dll3 in the developing nervous system.

Kusumi K, Dunwoodie SL, Krumlauf R. Kusumi K, et al. Mech Dev. 2001 Jan;100(1):141-4. doi: 10.1016/s0925-4773(00)00514-1. Mech Dev. 2001. PMID: 11118901 Free article.

5

Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype.

Sparrow DB, Chapman G, Wouters MA, Whittock NV, Ellard S, Fatkin D, Turnpenny PD, Kusumi K, Sillence D, Dunwoodie SL. Sparrow DB, et al. Among authors: kusumi k. Am J Hum Genet. 2006 Jan;78(1):28-37. doi: 10.1086/498879. Epub 2005 Nov 16. Am J Hum Genet. 2006. PMID: 16385447 Free PMC article.

6

Abnormal vertebral segmentation and the notch signaling pathway in man.

Turnpenny PD, Alman B, Cornier AS, Giampietro PF, Offiah A, Tassy O, Pourquié O, Kusumi K, Dunwoodie S. Turnpenny PD, et al. Among authors: kusumi k. Dev Dyn. 2007 Jun;236(6):1456-74. doi: 10.1002/dvdy.21182. Dev Dyn. 2007. PMID: 17497699 Free article. Review.

7

Dll3 pudgy mutation differentially disrupts dynamic expression of somite genes.

Kusumi K, Mimoto MS, Covello KL, Beddington RS, Krumlauf R, Dunwoodie SL. Kusumi K, et al. Genesis. 2004 Jun;39(2):115-21. doi: 10.1002/gene.20034. Genesis. 2004. PMID: 15170697

8

Summary of the first inaugural joint meeting of the International Consortium for scoliosis genetics and the International Consortium for vertebral anomalies and scoliosis, March 16-18, 2017, Dallas, Texas.

Giampietro PF, Pourquie O, Raggio C, Ikegawa S, Turnpenny PD, Gray R, Dunwoodie SL, Gurnett CA, Alman B, Cheung K, Kusumi K, Hadley-Miller N, Wise CA. Giampietro PF, et al. Among authors: kusumi k. Am J Med Genet A. 2018 Jan;176(1):253-256. doi: 10.1002/ajmg.a.38550. Epub 2017 Nov 21. Am J Med Genet A. 2018. PMID: 29159998 Free PMC article.

9

Formation errors of the vertebral column.

Kusumi K, Turnpenny PD. Kusumi K, et al. J Bone Joint Surg Am. 2007 Feb;89 Suppl 1:64-71. doi: 10.2106/JBJS.F.00486. J Bone Joint Surg Am. 2007. PMID: 17272424 Review. No abstract available.

10

Direct isolation of polymorphic markers linked to a trait by genetically directed representational difference analysis.

Lisitsyn NA, Segre JA, Kusumi K, Lisitsyn NM, Nadeau JH, Frankel WN, Wigler MH, Lander ES. Lisitsyn NA, et al. Among authors: kusumi k. Nat Genet. 1994 Jan;6(1):57-63. doi: 10.1038/ng0194-57. Nat Genet. 1994. PMID: 8136836

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