نتایج جستجو برای: shwachman

تعداد نتایج: 1492  

Journal: :Turkish journal of haematology : official journal of Turkish Society of Haematology 2009
Namık Özbek

Several congenital disorders may cause neutropenia. The recent advances in the field of molecular biology have facilitated our knowledge concerning pathophysiological mechanisms leading to these disorders. The molecular basis of disorders with defective myelopoiesis (severe congenital neutropenia and cyclic neutropenia) and disorders due to defective RNA processing (Shwachman Diamond syndrome a...

Journal: :Haematologica 2000
F R Spirito B Crescenzi C Matteucci M F Martelli C Mecucci

We report on a case of acute myeloid leukemia in a 17-year old boy affected by Shwachman Diamond syndrome (SDS). Conventional cytogenetics at diagnosis revealed an abnormal clone with complex karyotypic changes including typical myeloid aberrations, such as monosomy 5, tetrasomy of chromosome 8, trisomy 9, and deletion of the short arm of chromosome 12. The boy was treated with conventional che...

2015
Sandra Perobelli Franco Alessandrini Giada Zoccatelli Elena Nicolis Alberto Beltramello Baroukh M. Assael Marco Cipolli

Shwachman-Diamond syndrome is a rare recessive genetic disease caused by mutations in SBDS gene, at chromosome 7q11. Phenotypically, the syndrome is characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal dysplasia and variable cognitive impairments. Structural brain abnormalities (smaller head circumference and decreased brain volume) have also been reported. No c...

Journal: :Blood 2012
Nicholas Burwick Scott A Coats Tomoka Nakamura Akiko Shimamura

Shwachman-Diamond syndrome (SDS) is an autosomal-recessive marrow failure syndrome with a predisposition to leukemia. SDS patients harbor biallelic mutations in the SBDS gene, resulting in low levels of SBDS protein. Data from nonhuman models demonstrate that the SBDS protein facilitates the release of eIF6, a factor that prevents ribosome joining. The complete abrogation of Sbds expression in ...

Journal: :The Journal of clinical investigation 2008
Karyn M Austin Mohan L Gupta Scott A Coats Asmin Tulpule Gustavo Mostoslavsky Alejandro B Balazs Richard C Mulligan George Daley David Pellman Akiko Shimamura

Deficiencies in the SBDS gene result in Shwachman-Diamond syndrome (SDS), an inherited bone marrow failure syndrome associated with leukemia predisposition. SBDS encodes a highly conserved protein previously implicated in ribosome biogenesis. Using human primary bone marrow stromal cells (BMSCs), lymphoblasts, and skin fibroblasts, we show that SBDS stabilized the mitotic spindle to prevent gen...

2017
Ling Zhang

Bone marrow failure syndromes (BMFS) are a cluster of inherited or acquired disorders characterized by peripheral cytopenia due to a decrease in hematopoietic progenitors or dysregulated hematopoiesis. Inherited bone marrow failure syndromes are mainly found in pediatric group, encompassing Diamond Blackfan anemia (DBA), Fanconi anemia (FA), congenital sideroblastic anemia (CSA), congenital neu...

2011
Olga Vasieva

Shwachman-Bodian-Diamond syndrome (SBDS) is linked to a mutation in a single gene. The SBDS proinvolved in RNA metabolism and ribosome-associated functions, but SBDS mutation is primarily linked to a defect in polymorphonuclear leukocytes unable to orient correctly in a spatial gradient of chemoattractants. Results of data mining and comparative genomic approaches undertaken in this study sugge...

Journal: :Journal of pediatric gastroenterology and nutrition 2005
Rosa M Lima Elísio Costa Cristina Rocha Emília Vieira Rosário dos Santos José Barbot Herculano Rocha

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. Other systemic findings (skeletal, liver and psychomotor) or problems secondary to bone marrow dysfunction may also be detected (1–4). Intermittent or persistent neutropenia is the most common hematologic find...

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