Results 51 to 60 of about 2,254,317 (172)

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

Deficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes

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, Eric M. J. Bindels, Paulina M. H. Van Strien, Marijke G. Valkhof, Maria N. Adisty, Remco M. Hoogenboezem, Mathijs A. Sanders, Johanna M. Rommens, Ivo P. Touw, Marc H. G. P. Raaijmakers   +9 more
doaj   +1 more source

Altered Conformational Landscape upon Sensing Guanine Nucleotides in a Disease Mutant of Elongation Factor-like 1 (EFL1) GTPase

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, Juana Virginia Tapia-Vieyra, Gabriel Gutiérrez-Magdaleno, Nuria Sánchez-Puig   +3 more
doaj   +1 more source

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

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
doaj   +1 more source

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

Shwachman-Diamond Syndrome Protein SBDS Maintains Human Telomeres by Regulating Telomerase Recruitment

Cell Reports, 2018
Summary: Shwachman-Diamond syndrome (SDS) is a rare pediatric disease characterized by various systemic disorders, including hematopoietic dysfunction.
Yi Liu, Feng Liu, Yizhao Cao, Huimin Xu, Yangxiu Wu, Su Wu, Dan Liu, Yong Zhao, Zhou Songyang, Wenbin Ma   +9 more
doaj   +1 more source

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., Andre\ub4 V., Bresolin S., Bugarin C., Cappuzzello C., D\u2019Amico G, Dander E., Di Meglio A., G Cazzaniga G., G te Kronnie G., Galbiati M., L Sainati L., Longoni D., M Cipolli M., Maserati E., Nicolis E., Serafini M., Warren AJ.   +17 more
core   +1 more source

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
doaj   +1 more source