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SBDS encodes a member of a highly conserved protein family that exists from archaea to vertebrates and plants. Additionally we are shipping Shwachman-Bodian-Diamond Syndrome Antibodies (44) and Shwachman-Bodian-Diamond Syndrome Proteins (17) and many more products for this protein.
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Knockdown of the zebrafish sbds ortholog fully recapitulates the spectrum of developmental abnormalities observed in the human Shwachman-Bodian-Diamond syndrome.
The sbds gene function is essential for normal pancreas and myeloid development in zebrafish. Zebrafish is a model system to study sbds gene function and for evaluation of novel therapies for Shwachman-Diamond syndrome.
The clinical diagnosis was confirmed by detection of compound heterozygous mutations in SBDS using whole-exome sequencing: a recurrent intronic mutation causing aberrant splicing (c.258+2T>C) and a novel missense variant in a highly conserved codon (c.41A>G, p.Asn14Ser), considered to be damaging for the protein structure by in silico prediction programs
Upon EFL1 (show EFNA1 ELISA Kits) binding, SBDS is repositioned around helix 69, thus facilitating a conformational switch in EFL1 (show EFNA1 ELISA Kits) that displaces eIF6 (show EIF6 ELISA Kits) by competing for an overlapping binding site on the 60S ribosomal subunit.
Association of EFL1 (show EFNA1 ELISA Kits) to SBDS did not modify the affinity for GTP (show AK3 ELISA Kits) but dramatically decreased that for GDP by increasing the dissociation rate of the nucleotide.
Genetic variations in exon 2 of SBDS gene do not appear to be contributing to aplastic anemia in the north Indian population.
The interaction between EFL1 (show EFNA1 ELISA Kits) and SBDS was analyzed by size exclusion chromatography, gel shift assay, and isothermal titration calorimetry. The results showed that EFL1 (show EFNA1 ELISA Kits) interacted directly with SBDS.
SBDS protein acts as a nucleotide exchange factor that stabilizes binding to GTP (show AK3 ELISA Kits) for human GTPase (show RACGAP1 ELISA Kits).
Lack of mutation in exon 2 of sbds protein in acute myeloid leukemia (show BCL11A ELISA Kits) suggests this subset is unlikely to have underlying sds (show SDS ELISA Kits)
We conclude that knockdown of SBDS leads to growth inhibition and defects in ribosome maturation
SBDS protein facilitates the release of eIF6 (show EIF6 ELISA Kits), a factor that prevents ribosome joining.
mesenchymal stromal cells from MDS (show PAFAH1B1 ELISA Kits) patients show low gene and protein expression of DICER1 (show DICER1 ELISA Kits) and DROSHA (show DROSHA ELISA Kits) which are involved in the microRNA biogenesis, as well as their target gene SBDS.
Deficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes
Sbds genotypes correlated with phenotypes in a mouse model of Shwachman-Diamond syndrome. Defects developed specifically in the pancreata of mice, reducing growth of mice and production of digestive enzymes.
Sbds is required for osteoclastogenesis by regulating monocyte migration via Rac2 (show RAC2 ELISA Kits) and osteoclast differentiation signaling downstream of RANK.
Sbds is an essential gene for early mammalian development, with an expression pattern consistent with a critical role in cell proliferation.
loss of Sbds is sufficient to induce abnormalities in hematopoiesis
The majority of Shwachman-Diamond syndrome cases are results of mutations in SBDS gene on chromosone 7q11.
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.
ribosome maturation protein SBDS
, shwachman-Bodian-Diamond syndrome protein homolog
, shwachman-Bodian-Diamond syndrome
, Shwachman-Bodian-Diamond syndrome homolog
, protein 22A3