| 1 | SEDL, TRAPPC2
|
| A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2.
|
| Takagi M, Yagi H, Nakamura Y, Shinohara H, Takeda R, Shimada A, Nishimura G, Hasegawa Y.
|
| Clin Pediatr Endocrinol 24(3):139-41. doi: 10.1297/cpe.24.139. No abstract available.
2015
|
| 2 | TRAPPC2
|
| Trs20 is required for TRAPP III complex assembly at the PAS and its function in autophagy.
|
| Taussig D, Lipatova Z, Segev N.
|
| Traffic 15(3):327-37. doi: 10.1111/tra.12145.
2014
|
| 3 | SEDL, TRAPPC2
|
| Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT.
|
| Davis EE, Savage JH, Willer JR, Jiang YH, Angrist M, Androutsopoulos A, Katsanis N.
|
| Clin Genet 85(4):359-64. doi: 10.1111/cge.12189.
2014
|
| 4 | HIVEP1, NCAPG2, TRAPPC2
|
| MIP-2A is a novel target of an anilinoquinazoline derivative for inhibition of tumour cell proliferation.
|
| Tokunaga M, Shiheido H, Tabata N, Sakuma-Yonemura Y, Takashima H, Horisawa K, Doi N, Yanagawa H.
|
| PLoS One 8(9):e76774. doi: 10.1371/journal.pone.0076774.
2013
|
| 5 | SEDL, TRAPPC2
|
| A trs20 mutation that mimics an SEDT-causing mutation blocks selective and non-selective autophagy: a model for TRAPP III organization.
|
| Brunet S, Shahrzad N, Saint-Dic D, Dutczak H, Sacher M.
|
| Traffic 14(10):1091-104. doi: 10.1111/tra.12095.
2013
|
| 6 | MIA3, TRAPPC2
|
| Sedlin controls the ER export of procollagen by regulating the Sar1 cycle.
|
| Venditti R, Scanu T, Santoro M, Di Tullio G, Spaar A, Gaibisso R, Beznoussenko GV, Mironov AA, Mironov A Jr, Zelante L, Piemontese MR, Notarangelo A, Malhotra V, Vertel BM, Wilson C, De Matteis MA.
|
| Science 337(6102):1668-72.
2012
|
| 7 | RAB11A, RAB8A, RAB8B, TRAPPC2
|
| Primary cilia membrane assembly is initiated by Rab11 and transport protein particle II (TRAPPII) complex-dependent trafficking of Rabin8 to the centrosome.
|
| Westlake CJ, Baye LM, Nachury MV, Wright KJ, Ervin KE, Phu L, Chalouni C, Beck JS, Kirkpatrick DS, Slusarski DC, Sheffield VC, Scheller RH, Jackson PK.
|
| Proc Natl Acad Sci U S A 108(7):2759-64. Epub 2011 Jan 27.
2011
|
| 8 | MRAR6, SEDL, TRAPPC2, TRAPPC9
|
| The adaptor function of TRAPPC2 in mammalian TRAPPs explains TRAPPC2-associated SEDT and TRAPPC9-associated congenital intellectual disability.
|
| Zong M, Wu XG, Chan CW, Choi MY, Chan HC, Tanner JA, Yu S.
|
| PLoS One 6(8):e23350. doi: 10.1371/journal.pone.0023350. Epub 2011 Aug 15.
2011
|
| 9 | ENO1, PITX1, SF1, TRAPPC2
|
| SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1.
|
| Jeyabalan J, Nesbit MA, Galvanovskis J, Callaghan R, Rorsman P, Thakker RV.
|
| PLoS One 5(5):e10646.
2010
|
| 10 | MRFAP1, TRAPPC2
|
| Interaction of Sedlin with PAM14.
|
| Liu X, Wang Y, Zhu H, Zhang Q, Xing X, Wu B, Song L, Fan L.
|
| J Cell Biochem 109(6):1129-33. doi: 10.1002/jcb.22491.
2010
|
| 11 | SEDL, TRAPPC2
|
| 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.
|
| Xiong F, Gao J, Li J, Liu Y, Feng G, Fang W, Chang H, Xie J, Zheng H, Li T, He L.
|
| Eur J Hum Genet 17(4):510-6. Epub 2008 Nov 12.
2009
|
| 12 | SEDL, TRAPPC2
|
| Biochemical consequences of sedlin mutations that cause spondyloepiphyseal dysplasia tarda.
|
| Choi MY, Chan CC, Chan D, Luk KD, Cheah KS, Tanner JA.
|
| Biochem J 423(2):233-42.PMID: 19650763 2009
|
| 13 | SEDL,TRAPPC2
|
| X-linked spondyloepiphyseal dysplasia tarda: a novel SEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations.
|
| Bar-Yosef U, Ohana E, Hershkovitz E, Perlmuter S, Ofir R, Birk OS.
|
| Am J Med Genet 125A(1):45-8. 2004
|
| 14 | SEDL,TRAPPC2
|
| X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families.
|
| Fiedler J, Le Merrer M, Mortier G, Heuertz S, Faivre L, Brenner RE.
|
| Hum Mutat 24(1):103. 2004
|
| 15 | SEDL,TRAPPC2
|
| An SEDL gene mutation in a Japanese kindred of X-linked spondyloepiphyseal dysplasia tarda.
|
| No authors listed
|
| Clin Genet 61(4):319-320. No abstract available. 2002
|
| 16 | TRAPPC2
|
| A novel nonsense mutation of the sedlin gene in a family with spondyloepiphyseal dysplasia tarda.
|
| Shi YR, Lee CC, Hsu YA, Wang CH, Tsai FJ.
|
| Hum Hered 54(1):54-6. 2002
|
| 17 | SEDL,TRAPPC2
|
| Loss of the SEDL gene product (Sedlin) causes X-linked spondyloepiphyseal dysplasia tarda: Identification of a molecular defect in a Japanese family.
|
| Matsui Y, Yasui N, Ozono K, Yamagata M, Kawabata H, Yoshikawa H.
|
| Am J Med Genet 99(4):328-30. 2001
|
| 18 | SEDL,TRAPPC2
|
| A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree.
|
| Grunebaum E, Arpaia E, MacKenzie JJ, Fitzpatrick J, Ray PN, Roifman CM.
|
| J Med Genet 38(6):409-11. No abstract available. 2001
|
| 19 | TRAPPC2
|
| The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.
|
| Gedeon AK, Tiller GE, Le Merrer M, Heuertz S, Tranebjaerg L, Chitayat D, Robertson S, Glass IA, Savarirayan R, Cole WG, Rimoin DL, Kousseff BG, Ohashi H, Zabel B, Munnich A, Gecz J, Mulley JC.
|
| Am J Hum Genet 68(6):1386-97. 2001
|
| 20 | TRAPPC2
|
| A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda.
|
| Tiller GE, Hannig VL, Dozier D, Carrel L, Trevarthen KC, Wilcox WR, Mundlos S, Haines JL, Gedeon AK, Gecz J.
|
| Am J Hum Genet 68(6):1398-407. 2001
|
| 21 | TRAPPC2
|
| The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site.
|
| Mumm S, Zhang X, Vacca M, D'Esposito M, Whyte MP.
|
| Gene 273(2):285-93. 2001
|
| 22 | SEDL,TRAPPC2
|
| Preonset studies of spondyloepiphyseal dysplasia tarda caused by a novel 2-base pair deletion in SEDL encoding sedlin
|
| Mumm S, Zhang X, Gottesman GS, McAlister WH, Whyte MP.
|
| J Bone Miner Res 16(12):2245-50. 2001
|
| 23 | SEDL, SEDL, TRAPPC2, TRAPPC2P1, TRAPPC2P2, TRAPPC2P3, TRAPPC2P4, TRAPPC2P5, TRAPPC2P6, TRAPPC2P7
|
| Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda.
|
| Gecz J, Hillman MA, Gedeon AK, Cox TC, Baker E, Mulley JC.
|
| Genomics 69(2):242-51. 2000
|
| 24 | SEDL,TRAPPC2
|
| A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred.
|
| Mumm S, Christie PT, Finnegan P, Jones J, Dixon PH, Pannett AA, Harding B, Gottesman GS, Thakker RV, Whyte MP.
|
| J Clin Endocrinol Metab 85(9):3343-7. 2000
|
| 25 | SEDL, TRAPPC2, TRAPPC2P1
|
| Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.
|
| Gedeon AK, et al.
|
| Nat Genet 22(4):400-4. 1999
|
| 26 | SEDL,TRAPPC2
|
| Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia.
|
| Bernard LE, et al.
|
| J Med Genet 33 : 432-434. 1996
|
| 27 | SEDL,TRAPPC2
|
| X linked spondyloepiphyseal dysplasia : a clinical, radiological, and molecular study of a large kindred.
|
| MacKenzie JJ, et al.
|
| J Med Genet 33 : 823-828. 1996
|
| 28 | SEDL,TRAPPC2
|
| Genetic mapping of Xp22.12-p22.31 with a refined localization for spondyloepiphyseal dysplasia (SEDL).
|
| Heuertz S, et al.
|
| Hum Genet 96 : 407-410. 1995
|
| 29 | TRAPPC2
|
| Fine deletion mapping of the p22 region of the human X chromosome using a radiation-induced hybrid panel.
|
| Heuertz S, et al.
|
| Cytogenet Cell Genet 69 : 7-10. 1995
|
| 30 | SEDL,TRAPPC2
|
| The gene for spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DXS92.
|
| Heuertz S, et al.
|
| Genomics 18 : 100-104. 1993
|
| 31 | SEDL,TRAPPC2
|
| Spondyloepiphyseal dysplasia tarda : linkage with genetic markers from the distal short arm of the X chromosome.
|
| Szpiro-Tapia S, Sefiani A, Guilloud-Bataille M, Heuertz S, Le Marec B, Frezal J, Maroteaux P, Hors-Cayla MC.
|
| Hum Genet 81 : 61-63. 1988
|