Citations for
1EFL1, EIF6, SBDS, SDS1
Heterozygous missense variant in EIF6 gene: A novel form of Shwachman-Diamond syndrome?
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.
Am J Med Genet A. Sep;182(9):2010-2020. doi: 10.1002/ajmg.a.61758. Epub 2020 Jul 13. 2020
2EFL1, SBDS, SDS1
Exploring the role of elongation Factor-Like 1 (EFL1) in Shwachman-Diamond syndrome through molecular dynamics.
Delre P, Alberga D, Gijsbers A, Sánchez-Puig N, Nicolotti O, Saviano M, Siliqi D, Mangiatordi GF.
J Biomol Struct Dyn. Oct;38(17):5219-5229. doi: 10.1080/07391102.2019.1704883. Epub 2019 Dec 20. 2020
3SBDS
IDH1 as a Cooperating Mutation in AML Arising in the Context of Shwachman-Diamond Syndrome
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.
Front Oncol. Aug 14;9:772. doi: 10.3389/fonc.2019.00772 2019
4SBDS, TPP1
Shwachman-Diamond Syndrome Protein SBDS Maintains Human Telomeres by Regulating Telomerase Recruitment
Liu Y, Liu F, Cao Y, Xu H, Wu Y, Wu S, Liu D, Zhao Y, Songyang Z, Ma W.
Cell Rep. Feb 13;22(7):1849-1860. doi: 10.1016/j.celrep.2018.01.057 2018
5SBDS, SDS1
Shwachman-Bodian-Diamond syndrome (SBDS) protein deficiency impairs translation re-initiation from C/EBPα and C/EBPβ mRNAs
In K, Zaini MA, Müller C, Warren AJ, von Lindern M, Calkhoven CF.
Nucleic Acids Res. May 19;44(9):4134-46. doi: 10.1093/nar/gkw005. Epub 2016 Jan 13. 2016
6EFL1, SBDS
Defective Guanine Nucleotide Exchange in the Elongation Factor-like 1 (EFL1) GTPase by Mutations in the Shwachman-Diamond Syndrome Protein.
García-Márquez A, Gijsbers A, de la Mora E, Sánchez-Puig N.
J Biol Chem. Jul 17;290(29):17669-78. doi: 10.1074/jbc.M114.626275. Epub 2015 May 19. 2015
7EFL1, SBDS
Direct interaction between EFL1 and SBDS is mediated by an intrinsically disordered insertion domain.
Asano N, Atsuumi H, Nakamura A, Tanaka Y, Tanaka I, Yao M.
Biochem Biophys Res Commun. Jan 24;443(4):1251-6. doi: 10.1016/j.bbrc.2013.12.143. Epub 2014 Jan 7. 2014
8EFL1, SBDS
Guanine nucleotide exchange in the ribosomal GTPase EFL1 is modulated by the protein mutated in the Shwachman-Diamond syndrome.
Gijsbers A, García-Márquez A, Luviano A, Sánchez-Puig N.
Biochem Biophys Res Commun. Aug 2;437(3):349-54. doi: 10.1016/j.bbrc.2013.06.077. Epub 2013 Jul 4 2013
9SBDS
Impaired growth, hematopoietic colony formation, and ribosome maturation in human cells depleted of Shwachman-Diamond syndrome protein SBDS.
Sezgin G, Henson AL, Nihrane A, Singh S, Wattenberg M, Alard P, Ellis SR, Liu JM.
Pediatr Blood Cancer Feb;60(2):281-6. doi: 10.1002/pbc.24300. Epub 2012 Sep 19 2013
10SBDS, SDS1
Increase in central striatal dopamine transporters in patients with Shwachman-Diamond syndrome: additional evidence of a brain phenotype
Booij J, Reneman L, Alders M, Kuijpers TW.
Am J Med Genet A. Jan;161A(1):102-7. doi: 10.1002/ajmg.a.35687. Epub 2012 Dec 14 2013
11SBDS, SDS1
Mitochondrial function is impaired in yeast and human cellular models of Shwachman Diamond syndrome
Henson AL, Moore JB 4th, Alard P, Wattenberg MM, Liu JM, Ellis SR.
Biochem Biophys Res Commun. Jul 19;437(1):29-34. doi: 10.1016/j.bbrc.2013.06.028. Epub 2013 Jun 19. 2013
12SBDS, SDS1
Ubiquitin-proteasome-rich cytoplasmic structures in neutrophils of patients with Shwachman-Diamond syndrome
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.
Haematologica. Jul;97(7):1057-63. doi: 10.3324/haematol.2011.048462. Epub 2012 Jan 22. 2012
13EFL1, EIF6, SBDS, SDS1
Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome.
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.
Genes Dev. May 1;25(9):917-29. doi: 10.1101/gad.623011 2011
14SBDS, SDS1
SBDS-deficiency results in specific hypersensitivity to Fas stimulation and accumulation of Fas at the plasma membrane.
Watanabe K, Ambekar C, Wang H, Ciccolini A, Schimmer AD, Dror Y.
Apoptosis 14(1):77-89. 2009
15SBDS
Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses.
Ball HL, Zhang B, Riches JJ, Gandhi R, Li J, Rommens JM, Myers JS.
Hum Mol Genet 18(19):3684-95. Epub 2009 Jul 14.PMID: 19602484 2009
16SBDS, SDS1
Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome.
Austin KM, Gupta ML, Coats SA, Tulpule A, Mostoslavsky G, Balazs AB, Mulligan RC, Daley G, Pellman D, Shimamura A.
J Clin Invest 118(4):1511-8. 2008
17SBDS, SDS1
Hematologically important mutations: Shwachman-Diamond syndrome.
Costa E, Santos R.
Blood Cells Mol Dis 40(2):183-4. Epub 2007 Oct 4.PMID: 17916435 2008
18SBDS, SDS1, SMD3
The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type.
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.
J Med Genet 44(4):e73. 2007
19SBDS
Mutations in the SBDS gene in acquired aplastic anemia.
Calado RT, Graf SA, Wilkerson KL, Kajigaya S, Ancliff PJ, Dror Y, Chanock SJ, Lansdorp PM, Young NS.
Blood 110(4):1141-6. Epub 2007 May 3. 2007
20NIP7, SBDS, SDS1
The Shwachman-Bodian-Diamond syndrome associated protein interacts with HsNip7 and its down-regulation affects gene expression at the transcriptional and translational levels.
Hesling C, Oliveira CC, Castilho BA, Zanchin NI.
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
21SBDS, SDS1
Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies.
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.
Genes Chromosomes Cancer 45(4):375-82. 2006
22SBDS, SDS1
Shwachman-Diamond syndrome: an inherited model of aplastic anaemia with accelerated angiogenesis.
Leung EW, Rujkijyanont P, Beyene J, Wei K, Abdelhaleem M, Freedman MH, Dror Y.
Br J Haematol 133(5):558-61. 2006
23SBDS, SDS1
Identification of novel mutations in patients with Shwachman-Diamond syndrome.
Nicolis E, Bonizzato A, Assael BM, Cipolli M.
Hum Mutat 25(4):410. 2005
24SBDS, SDS1
Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations.
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.
Tohoku J Exp Med 206(3):253-9. 2005
25SBDS
The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism.
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.
J Biol Chem 280(19):19213-20. Epub 2005 Feb 8. 2005
26SBDS
The Shwachman-Diamond SBDS protein localizes to the nucleolus.
Austin KM, Leary RJ, Shimamura A.
Blood 106(4):1253-8. Epub 2005 Apr 28. 2005
27SBDS, SDS1
Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome.
Nakashima E, Mabuchi A, Makita Y, Masuno M, Ohashi H, Nishimura G, Ikegawa S.
Hum Genet 114(4):345-8. Epub 2004 Jan 29. 2004
28SBDS, SDS1
Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome.
Woloszynek JR, Rothbaum RJ, Rawls AS, Minx PJ, Wilson RK, Mason PJ, Bessler M, Link DC.
Blood 104(12):3588-90. Epub 2004 Jul 29. 2004
29SBDS, SBDSP1, SDS1
Mutations in SBDS are associated with Shwachman-Diamond syndrome.
Boocock GR, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, Rommens JM.
Nat Genet 33(1):97-101. 2003
30SBDS
Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene.
Popovic M, Goobie S, Morrison J, Ellis L, Ehtesham N, Richards N, Boocock G, Durie PR, Rommens JM.
Eur J Hum Genet 10(4):250-8. 2002
31SBDS, SDS1
Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7.
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.
Am J Hum Genet 68(4):1048-54. 2001
32SBDS, SDS
Human liver serine dehydratase. cDNA cloning and sequence homology with hydroxyamino acid dehydratases from other sources.
Ogawa H, Gomi T, Konishi K, Date T, Nakashima H, Nose K, Matsuda Y,Peraino C, Pitot HC, Fujioka M.
J Biol Chem 264(27):15818-23. 1989
33SBDS
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.
Ogawa H, et al.
Proc Natl Acad Sci U S A 85(16):5809-13 1988