| 1 | SEDL, TRAPPC2
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| A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2.
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| Takagi M, Yagi H, Nakamura Y, Shinohara H, Takeda R, Shimada A, Nishimura G, Hasegawa Y.
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| Clin Pediatr Endocrinol 24(3):139-41. doi: 10.1297/cpe.24.139. No abstract available.
2015
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| 2 | SEDL, TRAPPC2
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| Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT.
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| Davis EE, Savage JH, Willer JR, Jiang YH, Angrist M, Androutsopoulos A, Katsanis N.
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| Clin Genet 85(4):359-64. doi: 10.1111/cge.12189.
2014
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| 3 | SEDL, TRAPPC2
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| A trs20 mutation that mimics an SEDT-causing mutation blocks selective and non-selective autophagy: a model for TRAPP III organization.
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| Brunet S, Shahrzad N, Saint-Dic D, Dutczak H, Sacher M.
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| Traffic 14(10):1091-104. doi: 10.1111/tra.12095.
2013
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| 4 | MRAR6, SEDL, TRAPPC2, TRAPPC9
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| The adaptor function of TRAPPC2 in mammalian TRAPPs explains TRAPPC2-associated SEDT and TRAPPC9-associated congenital intellectual disability.
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| Zong M, Wu XG, Chan CW, Choi MY, Chan HC, Tanner JA, Yu S.
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| PLoS One 6(8):e23350. doi: 10.1371/journal.pone.0023350. Epub 2011 Aug 15.
2011
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| 5 | SEDL, TRAPPC2
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| Noncanonical and canonical splice sites: a novel mutation at the rare noncanonical splice-donor cut site (IVS4+1A>G) of SEDL causes variable splicing isoforms in X-linked spondyloepiphyseal dysplasia tarda.
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| Xiong F, Gao J, Li J, Liu Y, Feng G, Fang W, Chang H, Xie J, Zheng H, Li T, He L.
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| Eur J Hum Genet 17(4):510-6. Epub 2008 Nov 12.
2009
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| 6 | SEDL, TRAPPC2
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| Biochemical consequences of sedlin mutations that cause spondyloepiphyseal dysplasia tarda.
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| Choi MY, Chan CC, Chan D, Luk KD, Cheah KS, Tanner JA.
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| Biochem J 423(2):233-42.PMID: 19650763 2009
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| 7 | SEDL,TRAPPC2
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| X-linked spondyloepiphyseal dysplasia tarda: a novel SEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations.
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| Bar-Yosef U, Ohana E, Hershkovitz E, Perlmuter S, Ofir R, Birk OS.
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| Am J Med Genet 125A(1):45-8. 2004
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| 8 | SEDL,TRAPPC2
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| X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families.
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| Fiedler J, Le Merrer M, Mortier G, Heuertz S, Faivre L, Brenner RE.
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| Hum Mutat 24(1):103. 2004
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| 9 | SEDL,TRAPPC2
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| An SEDL gene mutation in a Japanese kindred of X-linked spondyloepiphyseal dysplasia tarda.
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| No authors listed
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| Clin Genet 61(4):319-320. No abstract available. 2002
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| 10 | SEDL,TRAPPC2
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| Loss of the SEDL gene product (Sedlin) causes X-linked spondyloepiphyseal dysplasia tarda: Identification of a molecular defect in a Japanese family.
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| Matsui Y, Yasui N, Ozono K, Yamagata M, Kawabata H, Yoshikawa H.
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| Am J Med Genet 99(4):328-30. 2001
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| 11 | SEDL,TRAPPC2
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| A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree.
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| Grunebaum E, Arpaia E, MacKenzie JJ, Fitzpatrick J, Ray PN, Roifman CM.
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| J Med Genet 38(6):409-11. No abstract available. 2001
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| 12 | SEDL,TRAPPC2
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| Preonset studies of spondyloepiphyseal dysplasia tarda caused by a novel 2-base pair deletion in SEDL encoding sedlin
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| Mumm S, Zhang X, Gottesman GS, McAlister WH, Whyte MP.
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| J Bone Miner Res 16(12):2245-50. 2001
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| 13 | SEDL, SEDL, TRAPPC2, TRAPPC2P1, TRAPPC2P2, TRAPPC2P3, TRAPPC2P4, TRAPPC2P5, TRAPPC2P6, TRAPPC2P7
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| Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda.
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| Gecz J, Hillman MA, Gedeon AK, Cox TC, Baker E, Mulley JC.
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| Genomics 69(2):242-51. 2000
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| 14 | SEDL,TRAPPC2
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| A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred.
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| Mumm S, Christie PT, Finnegan P, Jones J, Dixon PH, Pannett AA, Harding B, Gottesman GS, Thakker RV, Whyte MP.
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| J Clin Endocrinol Metab 85(9):3343-7. 2000
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| 15 | SEDL, TRAPPC2, TRAPPC2P1
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| Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.
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| Gedeon AK, et al.
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| Nat Genet 22(4):400-4. 1999
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| 16 | SEDL,TRAPPC2
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| Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia.
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| Bernard LE, et al.
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| J Med Genet 33 : 432-434. 1996
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| 17 | SEDL,TRAPPC2
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| X linked spondyloepiphyseal dysplasia : a clinical, radiological, and molecular study of a large kindred.
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| MacKenzie JJ, et al.
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| J Med Genet 33 : 823-828. 1996
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| 18 | SEDL,TRAPPC2
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| Genetic mapping of Xp22.12-p22.31 with a refined localization for spondyloepiphyseal dysplasia (SEDL).
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| Heuertz S, et al.
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| Hum Genet 96 : 407-410. 1995
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| 19 | SEDL,TRAPPC2
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| The gene for spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DXS92.
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| Heuertz S, et al.
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| Genomics 18 : 100-104. 1993
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| 20 | SEDL,TRAPPC2
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| Spondyloepiphyseal dysplasia tarda : linkage with genetic markers from the distal short arm of the X chromosome.
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| Szpiro-Tapia S, Sefiani A, Guilloud-Bataille M, Heuertz S, Le Marec B, Frezal J, Maroteaux P, Hors-Cayla MC.
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| Hum Genet 81 : 61-63. 1988
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