Results 51 to 60 of about 7,368 (202)

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, Mare L, Marletta C, Maserati E, Montalbano G, Pasquali F, Pressato B, Valli R   +7 more
core   +1 more source

Ubiquitin-proteasome-rich cytoplasmic structures in neutrophils of patients with Shwachman-Diamond syndrome

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, Antonella Minelli, Patrizia Sommi, Agostina Vitali, Roberta Caruso, Daniela Longoni, Maria Rita Frau, Cristina Nasi, Fabiola De Gregorio, Marco Zecca, Vittorio Ricci, Cesare Danesino, Enrico Solcia   +12 more
doaj   +1 more source

Shwachman-Diamond syndrome mimicking mitochondrial hepatopathy. [PDF]

JPGN Rep
AbstractShwachman–Diamond syndrome (SDS) is a genetic disorder caused by mutations in the Shwachman–Bodian–Diamond syndrome (SBDS) gene. The syndrome is characterized by multiorgan dysfunction primarily involving the bone marrow and exocrine pancreas.
Kaufman O, Donnelly C, Cork E, Fiel MI, Chu J, Ganesh J.   +5 more
europepmc   +3 more sources

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, Bunka, David HJ, Chong, James PJ, Isupov, Michail N, Koonin, Eugene V, Lebedev, Andrey A, Ng, C Leong, Ortiz-Lombardia, Miguel, Stockley, Peter G, Walters, Alison D, Waterman, David G   +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, Laëtitia Kermasson, Christine Hilcenko, Vasileios Kargas, David Traynor, Ahmed Z. Boukerrou, Norberto Escudero-Urquijo, Alexandre Faille, Alexis Bertrand, Maxim Rossmann, Beatriz Goyenechea, Li Jin, Jonathan Moreil, Olivier Alibeu, Blandine Beaupain, Christine Bôle-Feysot, Stefano Fumagalli, Sophie Kaltenbach, Jean-Alain Martignoles, Cécile Masson, Patrick Nitschké, Mélanie Parisot, Aurore Pouliet, Isabelle Radford-Weiss, Frédéric Tores, Jean-Pierre de Villartay, Mohammed Zarhrate, Ai Ling Koh, Kong Boo Phua, Bruno Reversade, Peter J. Bond, Christine Bellanné-Chantelot, Isabelle Callebaut, François Delhommeau, Jean Donadieu, Alan J. Warren, Patrick Revy   +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, Costa, Elísio, Lima, Rosa, Rocha, Cristina, Rocha, Herculano, Santos, Rosário, Vieira, Emília   +6 more
core   +1 more source

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, Ken-ichiro Watanabe, Chhaya Ambekar, Hanming Wang, Aaron Schimmer, Joseph Beyene, Yigal Dror   +6 more
doaj   +1 more source

Ichthyosis, exocrine pancreatic insufficiency, impaired neutrophil chemotaxis, growth retardation, and metaphyseal dysplasia (Shwachman syndrome). [PDF]

, 1991
The Shwachman syndrome comprises exocrine pancreatic insufficiency, growth retardation, and bone marrow hypoplasia resulting in neutropenia. Clinical, morphological, and ultrastructural studies, as well as hair analysis, were performed in a patient with ...
Goeteyn, M. (M.), Groot, R. (Ronald) de, Oranje, A.P. (Arnold), Suijlekom-Smit, L.W.A. (Lisette) van, Vuzevski, V.D. (Vojislav)   +4 more
core   +1 more source

Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up

Haematologica, 2018
The National Cancer Institute Inherited Bone Marrow Failure Syndromes Cohort enrolls patients with the four major syndromes: Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome, and follows them with a common ...
Blanche P. Alter, Neelam Giri, Sharon A. Savage, Philip S Rosenberg   +3 more
doaj   +1 more source

Shwachman–Diamond Syndrome (SDS) [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2008
Intermittent neutropenia is the most common haematological finding (85-100%); in addition aplastic anemia (80%), increased hemoglobin F levels (80%), thrombocytopenia (25-85%) and impaired neutrophil chemotaxis, Band T-cell defects can be found. Fluctuating or persistent exocrine pancreatic dysfunction (with low serum amylase in 50-75%, low serum ...
M Schmugge, D Betts
openaire   +2 more sources