SBDS

Shwachman-Bodian-Diamond syndrome, also known as SBDS, is a human gene.cite web | title = Entrez Gene: SBDS Shwachman-Bodian-Diamond syndrome| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51119| accessdate = ]

PBB_Summary
section_title =
summary_text = This gene encodes a member of a highly conserved protein family that exists from archaea to vertebrates and plants. The encoded protein may function in RNA metabolism. Mutations within this gene are associated with Shwachman-Bodian-Diamond syndrome. An alternative transcript has been described, but its biological nature has not been determined. This gene has a closely linked pseudogene that is distally located.cite web | title = Entrez Gene: SBDS Shwachman-Bodian-Diamond syndrome| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51119| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Lai CH, Chou CY, Ch'ang LY, "et al." |title=Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. |journal=Genome Res. |volume=10 |issue= 5 |pages= 703–13 |year= 2000 |pmid= 10810093 |doi=
*cite journal | author=Popovic M, Goobie S, Morrison J, "et al." |title=Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene. |journal=Eur. J. Hum. Genet. |volume=10 |issue= 4 |pages= 250–8 |year= 2002 |pmid= 12032733 |doi= 10.1038/sj.ejhg.5200798
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Boocock GR, Morrison JA, Popovic M, "et al." |title=Mutations in SBDS are associated with Shwachman-Diamond syndrome. |journal=Nat. Genet. |volume=33 |issue= 1 |pages= 97–101 |year= 2003 |pmid= 12496757 |doi= 10.1038/ng1062
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Nakashima E, Mabuchi A, Makita Y, "et al." |title=Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome. |journal=Hum. Genet. |volume=114 |issue= 4 |pages= 345–8 |year= 2004 |pmid= 14749921 |doi= 10.1007/s00439-004-1081-2
*cite journal | author=Woloszynek JR, Rothbaum RJ, Rawls AS, "et al." |title=Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome. |journal=Blood |volume=104 |issue= 12 |pages= 3588–90 |year= 2004 |pmid= 15284109 |doi= 10.1182/blood-2004-04-1516
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Andersen JS, Lam YW, Leung AK, "et al." |title=Nucleolar proteome dynamics. |journal=Nature |volume=433 |issue= 7021 |pages= 77–83 |year= 2005 |pmid= 15635413 |doi= 10.1038/nature03207
*cite journal | author=Kuijpers TW, Alders M, Tool AT, "et al." |title=Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship. |journal=Blood |volume=106 |issue= 1 |pages= 356–61 |year= 2005 |pmid= 15769891 |doi= 10.1182/blood-2004-11-4371
*cite journal | author=Austin KM, Leary RJ, Shimamura A |title=The Shwachman-Diamond SBDS protein localizes to the nucleolus. |journal=Blood |volume=106 |issue= 4 |pages= 1253–8 |year= 2005 |pmid= 15860664 |doi= 10.1182/blood-2005-02-0807
*cite journal | author=Kawakami T, Mitsui T, Kanai M, "et al." |title=Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations. |journal=Tohoku J. Exp. Med. |volume=206 |issue= 3 |pages= 253–9 |year= 2005 |pmid= 15942154 |doi=
*cite journal | author=Boocock GR, Marit MR, Rommens JM |title=Phylogeny, sequence conservation, and functional complementation of the SBDS protein family. |journal=Genomics |volume=87 |issue= 6 |pages= 758–71 |year= 2006 |pmid= 16529906 |doi= 10.1016/j.ygeno.2006.01.010
*cite journal | author=Erdos M, Alapi K, Balogh I, "et al." |title=Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene. |journal=Exp. Hematol. |volume=34 |issue= 11 |pages= 1517–21 |year= 2007 |pmid= 17046571 |doi= 10.1016/j.exphem.2006.06.009
*cite journal | author=Nishimura G, Nakashima E, Hirose Y, "et al." |title=The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type. |journal=J. Med. Genet. |volume=44 |issue= 4 |pages= e73 |year= 2007 |pmid= 17400792 |doi= 10.1136/jmg.2006.043869
*cite journal | author=Calado RT, Graf SA, Wilkerson KL, "et al." |title=Mutations in the SBDS gene in acquired aplastic anemia. |journal=Blood |volume=110 |issue= 4 |pages= 1141–6 |year= 2007 |pmid= 17478638 |doi= 10.1182/blood-2007-03-080044
*cite journal | author=Wang Y, Yagasaki H, Hama A, "et al." |title=Mutation of SBDS and SH2D1A is not associated with aplastic anemia in Japanese children. |journal=Haematologica |volume=92 |issue= 11 |pages= 1573 |year= 2007 |pmid= 18024409 |doi= 10.3324/haematol.11568

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