Impaired ribosomal subunit association in Shwachman-Diamond syndrome.
about
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancyThe inherited bone marrow failure syndromesModeling Human Bone Marrow Failure Syndromes Using Pluripotent Stem Cells and Genome EngineeringStructural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.The emerging importance of ribosomal dysfunction in the pathogenesis of hematologic disorders.Marrow failure: a window into ribosome biologyIdentification of the interactors of human nibrin (NBN) and of its 26 kDa and 70 kDa fragments arising from the NBN 657del5 founder mutation.In Vivo Senescence in the Sbds-Deficient Murine Pancreas: Cell-Type Specific Consequences of Translation Insufficiency.Deficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes.Structural dynamics of the yeast Shwachman-Diamond syndrome protein (Sdo1) on the ribosome and its implication in the 60S subunit maturationEvaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome.Functional analysis of the uL11 protein impact on translational machineryGenetic predispositions to childhood leukemia.Understanding chronic neutropenia: life is short.The microenvironment in myelodysplastic syndromes: niche-mediated disease initiation and progression.Shwachman-Bodian-Diamond syndrome (SBDS) protein deficiency impairs translation re-initiation from C/EBPα and C/EBPβ mRNAsThe Contributions of the Ribosome Biogenesis Protein Utp5/WDR43 to Craniofacial DevelopmentGene Signatures of 1,25-Dihydroxyvitamin D3 Exposure in Normal and Transformed Mammary Cells.Mechanistic insight into eukaryotic 60S ribosomal subunit biogenesis by cryo-electron microscopyPluripotent stem cell models of Shwachman-Diamond syndrome reveal a common mechanism for pancreatic and hematopoietic dysfunction.SHPRH regulates rRNA transcription by recognizing the histone code in an mTOR-dependent manner.Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).Differential expression of ribosomal proteins in myelodysplastic syndromes.
P2860
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P2860
Impaired ribosomal subunit association in Shwachman-Diamond syndrome.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Impaired ribosomal subunit association in Shwachman-Diamond syndrome.
@ast
Impaired ribosomal subunit association in Shwachman-Diamond syndrome.
@en
type
label
Impaired ribosomal subunit association in Shwachman-Diamond syndrome.
@ast
Impaired ribosomal subunit association in Shwachman-Diamond syndrome.
@en
prefLabel
Impaired ribosomal subunit association in Shwachman-Diamond syndrome.
@ast
Impaired ribosomal subunit association in Shwachman-Diamond syndrome.
@en
P2093
P2860
P1433
P1476
Impaired ribosomal subunit association in Shwachman-Diamond syndrome.
@en
P2093
Akiko Shimamura
Nicholas Burwick
Scott A Coats
Tomoka Nakamura
P2860
P304
P356
10.1182/BLOOD-2012-04-420166
P407
P577
2012-10-31T00:00:00Z