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- Imanishi, T., et al.
(author)
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Integrative annotation of 21,037 human genes validated by full-length cDNA clones
- 2004
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In: PLoS biology. - : Public Library of Science (PLoS). - 1544-9173 .- 1545-7885. ; 2:6, s. 856-875
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Journal article (peer-reviewed)abstract
- The human genome sequence defines our inherent biological potential; the realization of the biology encoded therein requires knowledge of the function of each gene. Currently, our knowledge in this area is still limited. Several lines of investigation have been used to elucidate the structure and function of the genes in the human genome. Even so, gene prediction remains a difficult task, as the varieties of transcripts of a gene may vary to a great extent. We thus performed an exhaustive integrative characterization of 41,118 full-length cDNAs that capture the gene transcripts as complete functional cassettes, providing an unequivocal report of structural and functional diversity at the gene level. Our international collaboration has validated 21,037 human gene candidates by analysis of high-quality full-length cDNA clones through curation using unified criteria. This led to the identification of 5,155 new gene candidates. It also manifested the most reliable way to control the quality of the cDNA clones. We have developed a human gene database, called the H-Invitational Database (H-InvDB; http://www.h-invitational.jp/). It provides the following: integrative annotation of human genes, description of gene structures, details of novel alternative splicing isoforms, non-protein-coding RNAs, functional domains, subcellular localizations, metabolic pathways, predictions of protein three-dimensional structure, mapping of known single nucleotide polymorphisms (SNPs), identification of polymorphic microsatellite repeats within human genes, and comparative results with mouse full-length cDNAs. The H-InvDB analysis has shown that up to 4% of the human genome sequence (National Center for Biotechnology Information build 34 assembly) may contain misassembled or missing regions. We found that 6.5% of the human gene candidates (1,377 loci) did not have a good protein-coding open reading frame, of which 296 loci are strong candidates for non-protein-coding RNA genes. In addition, among 72,027 uniquely mapped SNPs and insertions/deletions localized within human genes, 13,215 nonsynonymous SNPs, 315 nonsense SNPs, and 452 indels occurred in coding regions. Together with 25 polymorphic microsatellite repeats present in coding regions, they may alter protein structure, causing phenotypic effects or resulting in disease. The H-InvDB platform represents a substantial contribution to resources needed for the exploration of human biology and pathology.
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| 2. |
- Fujita, Y, et al.
(author)
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Evidence for the existence of the [202]3/2 deformed band in mirror nuclei Mg-25 and Al-25
- 2004
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In: Physical Review Letters. - 1079-7114. ; 92:6
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Journal article (peer-reviewed)abstract
- After 50 years of its prediction, the highest-lying [2 0 2]3/2 orbit among the six Nilsson single-particle orbits originating from the sd shells in prolately deformed nuclei and the rotational band on this orbit were identified. The band members were observed in Al-25 at excitation energies of 6-7.5 MeV in a high-resolution Mg-25(He-3,t) charge-exchange reaction at 0degrees having a strong selectivity for Gamow-Teller transitions. In the comparison with the analogous M1 transitions in Mg-25, the J(pi)=3/2(+) bandhead state and the excited 5/2(+) and 7/2(+) members were clearly assigned.
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| 3. |
- Kyle, RA, et al.
(author)
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Criteria for the classification of monoclonal gammopathies, multiple myeloma and related disorders: a report of the International Myeloma Working Group
- 2003
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In: British Journal of Haematology. - : Wiley. - 0007-1048. ; 121:5, s. 749-757
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Journal article (peer-reviewed)abstract
- The monoclonal gammopathies are a group of disorders associated with monoclonal proliferation of plasma cells. The characterization of specific entities is an area of difficulty in clinical practice. The International Myeloma Working Group has reviewed the criteria for diagnosis and classification with the aim of producing simple, easily used definitions based on routinely available investigations. In monoclonal gammopathy of undetermined significance (MGUS) or monoclonal gammopathy, unattributed/unassociated (MG[u]), the monoclonal protein is < 30 g/l and the bone marrow clonal cells < 10% with no evidence of multiple myeloma, other B-cell proliferative disorders or amyloidosis. In asymptomatic (smouldering) myeloma the M-protein is greater than or equal to 30 g/l and/or bone marrow clonal cells greater than or equal to 10% but no related organ or tissue impairment (ROTI)(end-organ damage), which is typically manifested by increased calcium, renal insufficiency, anaemia, or bone lesions (CRAB) attributed to the plasma cell proliferative process. Symptomatic myeloma requires evidence of ROTI. Non-secretory myeloma is characterized by the absence of an M-protein in the serum and urine, bone marrow plasmacytosis and ROTI. Solitary plasmacytoma of bone, extramedullary plasmacytoma and multiple solitary plasmacytomas (+/- recurrent) are also defined as distinct entities. The use of these criteria will facilitate comparison of therapeutic trial data. Evaluation of currently available prognostic factors may allow better definition of prognosis in multiple myeloma.
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| 4. |
- Shimbara, Y, et al.
(author)
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Suppression of Gamow-Teller and M1 transitions in deformed mirror nuclei Mg-25 and Al-25 - Direct observation of K selection rules
- 2004
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In: European Physical Journal A. Hadrons and Nuclei. - : Springer Science and Business Media LLC. - 1434-6001. ; 19:1, s. 25-31
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Journal article (peer-reviewed)abstract
- The mirror nuclei Mg-25 and Al-25 are expected to have very similar structures. The Gamow-Teller (GT) transitions from the J(pi) = 5/2(+) ground state of Mg-25 to the excited states in Al-25 were studied by high-resolution measurements of the Mg-25(He-3,t) charge-exchange reaction at 0degrees and at 140 MeV/nucleon. Assuming the usual DeltaJ(pi) = 1(+) selection rule for the spin-isospin-type GT transitions, the states with J(pi) = 3/2(+), 5/2(+), and 7/2 (+) should be excited. However, of the more than ten states with these J(pi) values below 6 MeV excitation energy, only the 5/2 (+) ground state and the 7/2 (+) , 1.613 MeV state in Al-25 were strongly populated, while all other states were strongly suppressed. The analysis of M1 transitions in Mg-25 also suggested a very similar feature for the analogous M1 transitions. Both Mg-25 and Al-25 are known to be largely deformed, and most low-lying states can be interpreted in terms of one-particle quantum numbers in the deformed potential and the associated rotational spectra. The observed suppression can be explained in terms of the K quantum number selection rules that are inherent to axially deformed nuclei.
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| 7. |
- Mochizuki, S., et al.
(author)
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JIKEI HEART Study--a morbi-mortality and remodeling study with valsartan in Japanese patients with hypertension and cardiovascular disease
- 2004
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In: Cardiovasc Drugs Ther. - 0920-3206. ; 18:4, s. 305-9
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Journal article (peer-reviewed)abstract
- BACKGROUND: Several recent clinical trials have demonstrated that angiotensin II receptor blockers (ARBs) have cardiovascular as well as renal protective effects. Asian patients including Japanese were under-represented in these trials, however, and no large-scale clinical trials of ARBs have yet been performed in Japan. It is therefore important to verify that the results of these studies are also valid for Japanese patients. The JIKEI HEART Study has been designed to investigate whether concomitant treatment with valsartan, an angiotensin II receptor blocker, in addition to conventional treatment, will improve the prognosis of Japanese patients with cardiovascular diseases (hypertension, ischemic heart disease, congestive heart failure). METHOD AND EVALUATION OF RESULTS: Around 3,000 patients with hypertension, ischemic heart disease and/or congestive heart failure will be randomized to receive either additional treatment with valsartan (80 mg/day) or conventional therapy. The follow-up period will be three years. The primary endpoint will be the onset of any cardiovascular event. Secondary endpoints will include death from any cause, changes in left ventricular size and function, renal function, changes in neuro-hormonal levels and quality-of-life assessments. Sub-studies will explore the effect in patients with diabetes mellitus, hyperlipidemia and the effects of combination of drugs. CONCLUSION: Improved prognosis would confirm the role of angiotensin II receptor blockers in the treatment of the cardiovascular disease in Japanese patients.
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