1 | EFL1, EIF6, SBDS, SDS1
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| Heterozygous missense variant in EIF6 gene: A novel form of Shwachman-Diamond syndrome?
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| Koh AL, Bonnard C, Lim JY, Liew WK, Thoon KC, Thomas T, Ali NAB, Ng AYJ, Tohari S, Phua KB, Venkatesh B, Reversade B, Jamuar SS.
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| Am J Med Genet A. Sep;182(9):2010-2020. doi: 10.1002/ajmg.a.61758. Epub 2020 Jul 13. 2020
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2 | EFL1, SBDS, SDS1
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| Exploring the role of elongation Factor-Like 1 (EFL1) in Shwachman-Diamond syndrome through molecular dynamics.
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| Delre P, Alberga D, Gijsbers A, Sánchez-Puig N, Nicolotti O, Saviano M, Siliqi D, Mangiatordi GF.
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| J Biomol Struct Dyn. Oct;38(17):5219-5229. doi: 10.1080/07391102.2019.1704883. Epub 2019 Dec 20. 2020
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3 | SBDS
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| IDH1 as a Cooperating Mutation in AML Arising in the Context of Shwachman-Diamond Syndrome
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| Mourad S, Bilodeau M, Roussy M, Laramée L, Boulianne L, Rouette A, Jouan L, Gendron P, Duval M, Teira P, Hébert J, Bittencourt H, Pastore Y, Landry JR, Cellot S.
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| Front Oncol. Aug 14;9:772. doi: 10.3389/fonc.2019.00772 2019
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4 | SBDS, TPP1
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| Shwachman-Diamond Syndrome Protein SBDS Maintains Human Telomeres by Regulating Telomerase Recruitment
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| Liu Y, Liu F, Cao Y, Xu H, Wu Y, Wu S, Liu D, Zhao Y, Songyang Z, Ma W.
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| Cell Rep. Feb 13;22(7):1849-1860. doi: 10.1016/j.celrep.2018.01.057 2018
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5 | SBDS, SDS1
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| Shwachman-Bodian-Diamond syndrome (SBDS) protein deficiency impairs translation re-initiation from C/EBPα and C/EBPβ mRNAs
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| In K, Zaini MA, Müller C, Warren AJ, von Lindern M, Calkhoven CF.
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| Nucleic Acids Res. May 19;44(9):4134-46. doi: 10.1093/nar/gkw005. Epub 2016 Jan 13. 2016
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6 | EFL1, SBDS
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| Defective Guanine Nucleotide Exchange in the Elongation Factor-like 1 (EFL1) GTPase by Mutations in the Shwachman-Diamond Syndrome Protein.
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| García-Márquez A, Gijsbers A, de la Mora E, Sánchez-Puig N.
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| J Biol Chem. Jul 17;290(29):17669-78. doi: 10.1074/jbc.M114.626275. Epub 2015 May 19. 2015
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7 | EFL1, SBDS
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| Direct interaction between EFL1 and SBDS is mediated by an intrinsically disordered insertion domain.
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| Asano N, Atsuumi H, Nakamura A, Tanaka Y, Tanaka I, Yao M.
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| Biochem Biophys Res Commun. Jan 24;443(4):1251-6. doi: 10.1016/j.bbrc.2013.12.143. Epub 2014 Jan 7. 2014
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8 | EFL1, SBDS
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| Guanine nucleotide exchange in the ribosomal GTPase EFL1 is modulated by the protein mutated in the Shwachman-Diamond syndrome.
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| Gijsbers A, García-Márquez A, Luviano A, Sánchez-Puig N.
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| Biochem Biophys Res Commun. Aug 2;437(3):349-54. doi: 10.1016/j.bbrc.2013.06.077. Epub 2013 Jul 4 2013
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9 | SBDS
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| Impaired growth, hematopoietic colony formation, and ribosome maturation in human cells depleted of Shwachman-Diamond syndrome protein SBDS.
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| Sezgin G, Henson AL, Nihrane A, Singh S, Wattenberg M, Alard P, Ellis SR, Liu JM.
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| Pediatr Blood Cancer Feb;60(2):281-6. doi: 10.1002/pbc.24300. Epub 2012 Sep 19 2013
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10 | SBDS, SDS1
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| Increase in central striatal dopamine transporters in patients with Shwachman-Diamond syndrome: additional evidence of a brain phenotype
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| Booij J, Reneman L, Alders M, Kuijpers TW.
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| Am J Med Genet A. Jan;161A(1):102-7. doi: 10.1002/ajmg.a.35687. Epub 2012 Dec 14 2013
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11 | SBDS, SDS1
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| Mitochondrial function is impaired in yeast and human cellular models of Shwachman Diamond syndrome
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| Henson AL, Moore JB 4th, Alard P, Wattenberg MM, Liu JM, Ellis SR.
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| Biochem Biophys Res Commun. Jul 19;437(1):29-34. doi: 10.1016/j.bbrc.2013.06.028. Epub 2013 Jun 19. 2013
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12 | SBDS, SDS1
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| Ubiquitin-proteasome-rich cytoplasmic structures in neutrophils of patients with Shwachman-Diamond syndrome
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| Necchi V, Minelli A, Sommi P, Vitali A, Caruso R, Longoni D, Frau MR, Nasi C, De Gregorio F, Zecca M, Ricci V, Danesino C, Solcia E.
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| Haematologica. Jul;97(7):1057-63. doi: 10.3324/haematol.2011.048462. Epub 2012 Jan 22. 2012
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13 | EFL1, EIF6, SBDS, SDS1
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| Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome.
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| Finch AJ, Hilcenko C, Basse N, Drynan LF, Goyenechea B, Menne TF, González Fernández A, Simpson P, D'Santos CS, Arends MJ, Donadieu J, Bellanné-Chantelot C, Costanzo M, Boone C, McKenzie AN, Freund SM, Warren AJ.
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| Genes Dev. May 1;25(9):917-29. doi: 10.1101/gad.623011 2011
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14 | SBDS, SDS1
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| SBDS-deficiency results in specific hypersensitivity to Fas stimulation and accumulation of Fas at the plasma membrane.
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| Watanabe K, Ambekar C, Wang H, Ciccolini A, Schimmer AD, Dror Y.
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| Apoptosis 14(1):77-89. 2009
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15 | SBDS
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| Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses.
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| Ball HL, Zhang B, Riches JJ, Gandhi R, Li J, Rommens JM, Myers JS.
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| Hum Mol Genet 18(19):3684-95. Epub 2009 Jul 14.PMID: 19602484 2009
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16 | SBDS, SDS1
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| Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome.
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| Austin KM, Gupta ML, Coats SA, Tulpule A, Mostoslavsky G, Balazs AB, Mulligan RC, Daley G, Pellman D, Shimamura A.
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| J Clin Invest 118(4):1511-8. 2008
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17 | SBDS, SDS1
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| Hematologically important mutations: Shwachman-Diamond syndrome.
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| Costa E, Santos R.
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| Blood Cells Mol Dis 40(2):183-4. Epub 2007 Oct 4.PMID: 17916435 2008
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18 | SBDS, SDS1, SMD3
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| The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type.
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| Nishimura G, Nakashima E, Hirose Y, Cole T, Cox P, Cohn DH, Rimoin DL, Lachman RS, Miyamoto Y, Kerr B, Unger S, Ohashi H, Superti-Furga A, Ikegawa S.
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| J Med Genet 44(4):e73. 2007
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19 | SBDS
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| Mutations in the SBDS gene in acquired aplastic anemia.
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| Calado RT, Graf SA, Wilkerson KL, Kajigaya S, Ancliff PJ, Dror Y, Chanock SJ, Lansdorp PM, Young NS.
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| Blood 110(4):1141-6. Epub 2007 May 3.
2007
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20 | NIP7, SBDS, SDS1
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| The Shwachman-Bodian-Diamond syndrome associated protein interacts with HsNip7 and its down-regulation affects gene expression at the transcriptional and translational levels.
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| Hesling C, Oliveira CC, Castilho BA, Zanchin NI.
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| Exp Cell Res 313(20):4180-95. Epub 2007 Jul 10. Erratum in: Exp Cell Res. 2008 Feb 15;314(4):936-7. PMID: 17643419 2007
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21 | SBDS, SDS1
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| Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies.
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| Maserati E, Minelli A, Pressato B, Valli R, Crescenzi B, Stefanelli M, Menna G, Sainati L, Poli F, Panarello C, Zecca M, Curto FL, Mecucci C, Danesino C, Pasquali F.
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| Genes Chromosomes Cancer 45(4):375-82. 2006
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22 | SBDS, SDS1
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| Shwachman-Diamond syndrome: an inherited model of aplastic anaemia with accelerated angiogenesis.
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| Leung EW, Rujkijyanont P, Beyene J, Wei K, Abdelhaleem M, Freedman MH, Dror Y.
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| Br J Haematol 133(5):558-61. 2006
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23 | SBDS, SDS1
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| Identification of novel mutations in patients with Shwachman-Diamond syndrome.
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| Nicolis E, Bonizzato A, Assael BM, Cipolli M.
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| Hum Mutat 25(4):410. 2005
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24 | SBDS, SDS1
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| Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations.
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| Kawakami T, Mitsui T, Kanai M, Shirahata E, Sendo D, Kanno M, Noro M, Endoh M, Hama A, Tono C, Ito E, Tsuchiya S, Igarashi Y, Abukawa D, Hayasaka K.
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| Tohoku J Exp Med 206(3):253-9. 2005
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25 | SBDS
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| The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism.
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| Savchenko A, Krogan N, Cort JR, Evdokimova E, Lew JM, Yee AA, Sanchez-Pulido L, Andrade MA, Bochkarev A, Watson JD, Kennedy MA, Greenblatt J, Hughes T, Arrowsmith CH, Rommens JM, Edwards AM.
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| J Biol Chem 280(19):19213-20. Epub 2005 Feb 8. 2005
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26 | SBDS
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| The Shwachman-Diamond SBDS protein localizes to the nucleolus.
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| Austin KM, Leary RJ, Shimamura A.
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| Blood 106(4):1253-8. Epub 2005 Apr 28. 2005
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27 | SBDS, SDS1
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| Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome.
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| Nakashima E, Mabuchi A, Makita Y, Masuno M, Ohashi H, Nishimura G, Ikegawa S.
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| Hum Genet 114(4):345-8. Epub 2004 Jan 29. 2004
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28 | SBDS, SDS1
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| Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome.
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| Woloszynek JR, Rothbaum RJ, Rawls AS, Minx PJ, Wilson RK, Mason PJ, Bessler M, Link DC.
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| Blood 104(12):3588-90. Epub 2004 Jul 29. 2004
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29 | SBDS, SBDSP1, SDS1
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| Mutations in SBDS are associated with Shwachman-Diamond syndrome.
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| Boocock GR, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, Rommens JM.
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| Nat Genet 33(1):97-101. 2003
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30 | SBDS
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| Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene.
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| Popovic M, Goobie S, Morrison J, Ellis L, Ehtesham N, Richards N, Boocock G, Durie PR, Rommens JM.
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| Eur J Hum Genet 10(4):250-8. 2002
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31 | SBDS, SDS1
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| Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7.
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| Goobie S, Popovic M, Morrison J, Ellis L, Ginzberg H, Boocock GR, Ehtesham N, Betard C, Brewer CG, Roslin NM, Hudson TJ, Morgan K, Fujiwara TM, Durie PR, Rommens JM.
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| Am J Hum Genet 68(4):1048-54. 2001
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32 | SBDS, SDS
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| Human liver serine dehydratase. cDNA cloning and sequence homology with hydroxyamino acid dehydratases from other sources.
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| Ogawa H, Gomi T, Konishi K, Date T, Nakashima H, Nose K, Matsuda Y,Peraino C, Pitot HC, Fujioka M.
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| J Biol Chem 264(27):15818-23. 1989
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33 | SBDS
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| Isolation and nucleotide sequence of the cDNA for rat liver serine dehydratase mRNA and structures of the 5' and 3' flanking regions of the serine dehydratase gene.
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| Ogawa H, et al.
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| Proc Natl Acad Sci U S A 85(16):5809-13 1988
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