Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome - Wikidata - awgldk - TriplyDB

Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome

Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome

http://www.wikidata.org/entity/Q24321611

about

Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome SBDS expression and localization at the mitotic spindle in human myeloid progenitors Diverse diseases from a ubiquitous process: the ribosomopathy paradox The genomics of inherited bone marrow failure: from mechanism to the clinic.Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses.Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disorders Ribosomopathies: human disorders of ribosome dysfunction.SBDS protein expression patterns in the bone marrow.Spindle microtubule dysfunction and cancer predisposition Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome The emerging importance of ribosomal dysfunction in the pathogenesis of hematologic disorders.Marrow failure: a window into ribosome biology Ribosomopathies: mechanisms of disease.A combination of two electrophoretical approaches for detailed proteome-based characterization of SCLC subtypes.In Vivo Senescence in the Sbds-Deficient Murine Pancreas: Cell-Type Specific Consequences of Translation Insufficiency.Alterations in the ribosomal machinery in cancer and hematologic disorders.SBDS-Deficient Cells Have an Altered Homeostatic Equilibrium due to Translational Inefficiency Which Explains their Reduced Fitness and Provides a Logical Framework for Intervention.Clinical spectrum and molecular pathophysiology of Shwachman-Diamond syndrome Impaired ribosomal subunit association in Shwachman-Diamond syndrome.Translational control in cancer etiology.Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome.Pathophysiology and management of inherited bone marrow failure syndromes.Genetic predispositions to childhood leukemia.Shwachman-Diamond syndrome: implications for understanding the molecular basis of leukaemia.Ewing sarcoma fusion protein EWSR1/FLI1 interacts with EWSR1 leading to mitotic defects in zebrafish embryos and human cell lines.Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment.Neutropenia and primary immunodeficiency diseases.Role of prolonged mitotic checkpoint activation in the formation and treatment of cancer.Primary immunodeficiency diseases associated with neurologic manifestations.Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update.Cellular stress pathways in pediatric bone marrow failure syndromes: many roads lead to neutropenia.Shwachman-Bodian-Diamond syndrome (SBDS) protein deficiency impairs translation re-initiation from C/EBPα and C/EBPβ mRNAs Concise Review: The Malignant Hematopoietic Stem Cell Niche.Immunophenotypic analysis of hematopoiesis in patients suffering from Shwachman-Bodian-Diamond Syndrome.Impaired growth, hematopoietic colony formation, and ribosome maturation in human cells depleted of Shwachman-Diamond syndrome protein SBDS.Of blood, bones, and ribosomes: is Swachman-Diamond syndrome a ribosomopathy?Pluripotent stem cell models of Shwachman-Diamond syndrome reveal a common mechanism for pancreatic and hematopoietic dysfunction.A novel mouse model provides insights into the neutropenia associated with the ribosomopathy Shwachman-Diamond syndrome.Mislocalization or low expression of mutated Shwachman-Bodian-Diamond syndrome protein.

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P2860

Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome

http://www.wikidata.org/entity/Q24321611

description

2008 nî lūn-bûn

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2008 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2008 թվականի ապրիլին հրատարակված գիտական հոդված

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2008年の論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年论文

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name

Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome

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Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome

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Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome

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Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome

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type

label

Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome

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Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome

@en

Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome

@en-gb

Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome

@nl

prefLabel

Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome

@ast

Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome

@en

Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome

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Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome

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P1433

Journal of Clinical Investigation

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Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome

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P2093

Akiko Shimamura

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Alejandro B Balazs

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Asmin Tulpule

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David Pellman

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Karyn M Austin

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Mohan L Gupta

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Richard C Mulligan

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Scott A Coats

http://www.w3.org/2001/XMLSchema#string

P2860

A telomerase component is defective in the human disease dyskeratosis congenita

The Shwachman-Diamond SBDS protein localizes to the nucleolus

The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

The conserved KMN network constitutes the core microtubule-binding site of the kinetochore

The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism.

Yeast Rrp14p is required for ribosomal subunit synthesis and for correct positioning of the mitotic spindle during mitosis.

The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast.

A panoramic view of yeast noncoding RNA processing.

The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita

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1511-8

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scholarly article

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1843230

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10.1172/JCI33764

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P433

4

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118

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Gustavo Mostoslavsky

George Q. Daley

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2008-04-01T00:00:00Z

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5528681

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18324336

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microtubule binding

SBDS ribosome maturation factor

P932

2263145

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