Absence of acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 in a series of 10 patients with Shwachman-Diamond syndrome [PDF]
, 2014 We report that acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 was not identified in a series of 10 patients with Shwachman\u2013Diamond syndrome (SDS)
Cannioto, Z. +12 more
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Telomere length in inherited bone marrow failure syndromes
Haematologica, 2015 Telomeres are long DNA repeats and a protein complex at chromosome ends that are essential for genome integrity. Telomeres are very short in patients with dyskeratosis congenita due to germline mutations in telomere biology genes.
Blanche P. Alter +3 more
doaj +1 more source
Incidence of Shwachman-Diamond syndrome [PDF]
, 2012 No abstract ...
Cannioto Z +9 more
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Delayed diagnosis of Shwachman diamond syndrome with short telomeres and a review of cases in Asia
Leukemia Research Reports, 2018 Inherited bone marrow failure syndrome (IBMFS) including Shwachman Diamond Syndrome (SDS) can present initially to the hematologist with myelodysplastic syndrome (MDS).
Shin Yeu Ong +5 more
doaj +1 more source
Different loss of material in recurrent chromosome 20 interstitial deletions in Shwachman-Diamond syndrome and in myeloid neoplasms [PDF]
, 2013 BACKGROUND: An interstitial deletion of the long arms of chromosome 20, del(20)(q), is frequent in the bone marrow (BM) of patients with myelodysplastic syndromes (MDS), acute myeloid leukemia (AML), and myeloproliferative neoplasms (MPN), and it is ...
Lo Curto F +7 more
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Haematologica, 2012 Background Shwachman–Diamond syndrome is an autosomal recessive disorder in which severe bone marrow dysfunction causes neutropenia and an increased risk of leukemia.
Vittorio Necchi +12 more
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Conformational flexibility and molecular interactions of an archaeal homologue of the Shwachman-Bodian-Diamond syndrome protein [PDF]
, 2011 RIGHTS : This article is licensed under the BioMed Central licence at http://www.biomedcentral.com/about/license which is similar to the 'Creative Commons Attribution Licence'.
Antson, Alfred A +10 more
core +2 more sources
Somatic genetic rescue of a germline ribosome assembly defect
Nature Communications, 2021 Shwachman-Diamond syndrome (SDS) is a leukemia predisposition disorder that is caused by defective release of eIF6 during ribosome assembly. Here the authors show that acquired somatic EIF6 mutations are frequent in the hematopoietic cells from ...
Shengjiang Tan +36 more
doaj +1 more source
Molecular characterization of a portuguese patient with Shwachman-Diamond syndrome [PDF]
, 2005 Shwachman-Diamond syndrome (SDS) a rare autosomal recessive disorder described first time 1964 (1), is characterized by the association of exocrine pancreatic and bone marrow dysfunction.
Barbot, José +6 more
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SBDS-deficient cells undergo accelerated apoptosis through the Fas-pathway
Haematologica, 2008 Background Shwachman-Diamond syndrome is an inherited multisystem disorder characterized by bone marrow and pancreatic dysfunction as well as metaphyseal dysostosis.
Piya Rujkijyanont +6 more
doaj +1 more source