Results 61 to 70 of about 7,368 (202)
Haematologica, 2015 Shwachman-Diamond syndrome is a congenital bone marrow failure disorder characterized by debilitating neutropenia. The disease is associated with loss-of-function mutations in the SBDS gene, implicated in ribosome biogenesis, but the cellular and ...
Noemi A. Zambetti +9 more
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Biomolecules, 2022 The final maturation step of the 60S ribosomal subunit requires the release of eukaryotic translation initiation factor 6 (human eIF6, yeast Tif6) to enter the pool of mature ribosomes capable of engaging in translation.
Jesús Pérez-Juárez +3 more
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Shwachman-Diamond Syndrome [PDF]
Journal of Pediatric Hematology/Oncology, 2013 Exocrine pancreatic insufficiency and diarrhea have been hallmarks in the diagnosis of Shwachman-Diamond syndrome (SDS). We report 2 cases of genetically confirmed SDS in patients who presented with an unusual phenotype. Patient #1 presented with pancytopenia without other system involvement, while patient #2 presented with severe neutropenia, anemia ...
Jeffrey R, Andolina +6 more
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Deletion of chromosome 20 in bone marrow of patients with Shwachman-Diamond syndrome, loss of the EIF6 gene and benign prognosis [PDF]
, 2012 Shwachman-Diamond Syndrome (SDS; On-line Mendelian Inheritance in Man database number 260400) is an autosomal recessive disorder caused by mutations in the SBDS gene in at least 90% of cases (Boocock et al, 2003).
Lo Curto F +7 more
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Shwachman-Diamond syndrome: UK perspective [PDF]
Archives of Disease in Childhood, 2006 So much has been added to our knowledge of Shwachman-Diamond syndrome (SDS) since it was last reviewed in this journal some 25 years ago, that there is now an urgent need to bring the condition to the attention of a new generation of paediatricians. SDS, although a rare autosomal recessive disorder, demands wide attention because it features in the ...
G W, Hall, P, Dale, J A, Dodge
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Congenital etiologies of exocrine pancreatic insufficiency
Frontiers in Pediatrics, 2022 Congenital exocrine pancreatic insufficiency is a rare condition. In a vast majority of patients, exocrine dysfunction occurs as part of a multisystemic disease, the most prevalent being cystic fibrosis and Shwachman-Bodian-Diamond syndrome.
Isabelle Scheers, Silvia Berardis
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Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome [PDF]
, 2017 Mutations that target the ubiquitous process of ribosome assembly paradoxically cause diverse tissue-specific disorders (ribosomopathies) that are often associated with an increased risk of cancer. Ribosomes are the essential macromolecular machines that
Warren, AJ
core +1 more source
Cell Reports, 2018 Summary: Shwachman-Diamond syndrome (SDS) is a rare pediatric disease characterized by various systemic disorders, including hematopoietic dysfunction.
Yi Liu +9 more
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Roles of ribosomal proteins in hematologic disorders and cancers: a review
Emergency and Critical Care Medicine, 2023 . Ribosomes are important organelles for synthesizing proteins in cells. They are composed of ribosomal RNA and more than 80 ribosomal proteins. It is well known that an essential function of ribosomal proteins is to participate in protein translation ...
Jie Wang, Feng Yan
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Mesenchymal stem cells from Shwachman\u2013Diamond syndromepatients display normal functions and do not contribute tohematological defects [PDF]
, 2012 Shwachman\u2013Diamond syndrome (SDS) is a rare inherited disorder characterized by bone marrow (BM) dysfunction and exocrine pancreatic insufficiency.
A Biondi A. +17 more
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