Gene Symbol: Sbds
Description: SBDS, ribosome maturation factor
Alias: ribosome maturation protein SBDS, SBDS ribosome assembly guanine nucleotide exchange factor, Shwachman-Bodian-Diamond syndrome homolog, shwachman-Bodian-Diamond syndrome protein homolog
Boocock G, Morrison J, Popovic M, Richards N, Ellis L, Durie P, et al
. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet. 2003;33:97-101 pubmed publisher
..Here, we report identification of disease-associated mutations in an uncharacterized gene, SBDS, in the interval of 1.9 cM at 7q11 previously shown to be associated with the disease. We report that SBDS has a 1...
Austin K, Leary R, Shimamura A. The Shwachman-Diamond SBDS protein localizes to the nucleolus. Blood. 2005;106:1253-8 pubmed
..The gene for this syndrome, SBDS, encodes a highly conserved novel protein...
Zhang S, Shi M, Hui C, Rommens J. Loss of the mouse ortholog of the shwachman-diamond syndrome gene (Sbds) results in early embryonic lethality. Mol Cell Biol. 2006;26:6656-63 pubmed
Mutations in SBDS are responsible for Shwachman-Diamond syndrome (SDS), a disorder with clinical features of exocrine pancreatic insufficiency, bone marrow failure, and skeletal abnormalities...
Ganapathi K, Austin K, Lee C, Dias A, Malsch M, Reed R, et al
. The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA. Blood. 2007;110:1458-65 pubmed
..Mutations in the SBDS gene are identified in most patients with SDS. SBDS encodes a highly conserved protein of unknown function...
Austin K, Gupta M, Coats S, Tulpule A, Mostoslavsky G, Balazs A, et al
. Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome. J Clin Invest. 2008;118:1511-8 pubmed publisher
Deficiencies in the SBDS gene result in Shwachman-Diamond syndrome (SDS), an inherited bone marrow failure syndrome associated with leukemia predisposition...
Stepanovic V, Wessels D, Goldman F, Geiger J, Soll D. The chemotaxis defect of Shwachman-Diamond Syndrome leukocytes. Cell Motil Cytoskeleton. 2004;57:158-74 pubmed
..While mutations at a single gene locus (SBDS) appear to be responsible for SDS in a majority of patients, the function of that gene and a specific defect in SDS ..
Hesling C, Oliveira C, Castilho B, Zanchin N. The Shwachman-Bodian-Diamond syndrome associated protein interacts with HsNip7 and its down-regulation affects gene expression at the transcriptional and translational levels. Exp Cell Res. 2007;313:4180-95 pubmed
..SDS has been associated to mutations in the SBDS gene, encoding a highly conserved protein that was shown to function in ribosome biogenesis in yeast...
Kuijpers T, Nannenberg E, Alders M, Bredius R, Hennekam R. Congenital aplastic anemia caused by mutations in the SBDS gene: a rare presentation of Shwachman-Diamond syndrome. Pediatrics. 2004;114:e387-91 pubmed
..Two common mutations in the SBDS gene (183-184TA-->CT [K62X] and IVS2(258)+2T--> C [C84fs]) were found...
Toiviainen Salo S, Mäyränpää M, Durie P, Richards N, Grynpas M, Ellis L, et al
. Shwachman-Diamond syndrome is associated with low-turnover osteoporosis. Bone. 2007;41:965-72 pubmed
..and determinants of osteopenia and osteoporosis in patients with SDS and disease-causing mutations in the SBDS gene. Eleven patients (8 males) aged from 5 to 37 years (median 16...