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1. 混合性結合組織病における抗U1-RNP抗体anti u1 rnp antibodies in mixed connective tissue disease [show details]
…percent, respectively) . Autoimmunity to specific components of the spliceosome is the immunological signature of MCTD. Spliceosomes are complex nuclear particles that are involved in the processing of …
2. 分子遺伝学の原理principles of molecular genetics [show details]
…to production of several different proteins from one gene. The following factors are involved: Spliceosomes are enzymatic ribonucleoprotein complexes that remove introns from the primary RNA transcript …
3. 抗核抗体染色パターンおよび関連自己抗体の臨床的意義clinical significance of antinuclear antibody staining patterns and associated autoantibodies [show details]
4. 研究用生物学的マーカーによる関節リウマチの診断および評価まinvestigational biologic markers in the diagnosis and assessment of rheumatoid arthritis [show details]
…or psoriatic arthropathy . The RA33 antibody is directed against a functional component of the spliceosome and is also found in systemic lupus erythematosus (SLE) and mixed connective tissue disease (MCTD); …
5. 骨髄異形成症候群における細胞遺伝学および分子遺伝学cytogenetics and molecular genetics of myelodysplastic syndromes [show details]
…a nuclear ribonucleoprotein that complexes with other nuclear ribonucleoproteins to create the spliceosome that is responsible for splicing messenger RNA. Recurrent somatic point mutations in this gene …

English Journal

Dyskeratosis congenita as a disorder of telomere maintenance.

Nelson ND, Bertuch AA.SourceDepartment of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, 1102 Bates, FC 1200, Houston, TX 77030, United States.
Mutation research.Mutat Res.2012 Feb 1;730(1-2):43-51. Epub 2011 Jul 2.
Since 1998, there have been great advances in our understanding of the pathogenesis of dyskeratosis congenita (DC), a rare inherited bone marrow failure and cancer predisposition syndrome with prominent mucocutaneous abnormalities and features of premature aging. DC is now characterized molecularly
PMID 21745483

Cwc2 and its human homologue RBM22 promote an active conformation of the spliceosome catalytic centre.

Rasche N, Dybkov O, Schmitzová J, Akyildiz B, Fabrizio P, Lührmann R.SourceDepartment of Cellular Biochemistry, Max-Planck-Institute of Biophysical Chemistry, Göttingen, Germany.
The EMBO journal.EMBO J.2012 Jan 13. doi: 10.1038/emboj.2011.502. [Epub ahead of print]
RNA-structural elements play key roles in pre-mRNA splicing catalysis; yet, the formation of catalytically competent RNA structures requires the assistance of spliceosomal proteins. We show that the S. cerevisiae Cwc2 protein functions prior to step 1 of splicing, and it is not required for the Prp2
PMID 22246180