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11.
H. Kawakami 《复旦学报(自然科学版)》2005,44(5):740-741
Recently, a great interest has been noted in the synthesis of inorganic membranes for gas separation. One of the candidates is a carbon molecular sieve (CMS) membrane, which is synthesized by the pyrolysis of a polymer. However, CMS membranes are very brittle and fragile. Additionally, it requires more careful handling and it is very difficult to prepare a thin CMS membrane because of its poor mechanical property. Therefore, the gas permeances of CMS membranes were not very high. 相似文献
12.
Asakawa Kazuhide Handa Hiroshi Kawakami Koichi 《Cellular and molecular life sciences : CMLS》2021,78(10):4453-4465
Cellular and Molecular Life Sciences - Transactive response DNA-binding protein 43 kDa (TDP-43) encoded by the TARDBP gene is an evolutionarily conserved heterogeneous nuclear... 相似文献
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A human lymphoid-specific transcription factor that activates immunoglobulin genes is a homoeobox protein 总被引:86,自引:0,他引:86
C Scheidereit J A Cromlish T Gerster K Kawakami C G Balmaceda R A Currie R G Roeder 《Nature》1988,336(6199):551-557
14.
Functional haplotypes of PADI4, encoding citrullinating enzyme peptidylarginine deiminase 4, are associated with rheumatoid arthritis 总被引:28,自引:0,他引:28
15.
L. Xue Y. Kawakami 《复旦学报(自然科学版)》2005,44(5):798-799
1 Introduction Silicon-containing polymers have been intensively studied in the past half-century, and a great number of papers, patents and books have been published on the synthesis, properties and applications. Silicon-containing polymers, especially polymers containing silicon atoms in the backbone, including some major species as polysiloxane, polysilane, polysilazane, etc. have chains constructed of alternately arranged silicon and oxygen atoms with organic groups attached to the silicon… 相似文献
16.
Bourdon A Minai L Serre V Jais JP Sarzi E Aubert S Chrétien D de Lonlay P Paquis-Flucklinger V Arakawa H Nakamura Y Munnich A Rötig A 《Nature genetics》2007,39(6):776-780
Mitochondrial DNA (mtDNA) depletion syndrome (MDS; MIM 251880) is a prevalent cause of oxidative phosphorylation disorders characterized by a reduction in mtDNA copy number. The hitherto recognized disease mechanisms alter either mtDNA replication (POLG (ref. 1)) or the salvage pathway of mitochondrial deoxyribonucleosides 5'-triphosphates (dNTPs) for mtDNA synthesis (DGUOK (ref. 2), TK2 (ref. 3) and SUCLA2 (ref. 4)). A last gene, MPV17 (ref. 5), has no known function. Yet the majority of cases remain unexplained. Studying seven cases of profound mtDNA depletion (1-2% residual mtDNA in muscle) in four unrelated families, we have found nonsense, missense and splice-site mutations and in-frame deletions of the RRM2B gene, encoding the cytosolic p53-inducible ribonucleotide reductase small subunit. Accordingly, severe mtDNA depletion was found in various tissues of the Rrm2b-/- mouse. The mtDNA depletion triggered by p53R2 alterations in both human and mouse implies that p53R2 has a crucial role in dNTP supply for mtDNA synthesis. 相似文献
17.
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin 总被引:14,自引:0,他引:14
Otto EA Loeys B Khanna H Hellemans J Sudbrak R Fan S Muerb U O'Toole JF Helou J Attanasio M Utsch B Sayer JA Lillo C Jimeno D Coucke P De Paepe A Reinhardt R Klages S Tsuda M Kawakami I Kusakabe T Omran H Imm A Tippens M Raymond PA Hill J Beales P He S Kispert A Margolis B Williams DS Swaroop A Hildebrandt F 《Nature genetics》2005,37(3):282-288
Nephronophthisis (NPHP) is the most frequent genetic cause of chronic renal failure in children. Identification of four genes mutated in NPHP subtypes 1-4 (refs. 4-9) has linked the pathogenesis of NPHP to ciliary functions. Ten percent of affected individuals have retinitis pigmentosa, constituting the renal-retinal Senior-Loken syndrome (SLSN). Here we identify, by positional cloning, mutations in an evolutionarily conserved gene, IQCB1 (also called NPHP5), as the most frequent cause of SLSN. IQCB1 encodes an IQ-domain protein, nephrocystin-5. All individuals with IQCB1 mutations have retinitis pigmentosa. Hence, we examined the interaction of nephrocystin-5 with RPGR (retinitis pigmentosa GTPase regulator), which is expressed in photoreceptor cilia and associated with 10-20% of retinitis pigmentosa. We show that nephrocystin-5, RPGR and calmodulin can be coimmunoprecipitated from retinal extracts, and that these proteins localize to connecting cilia of photoreceptors and to primary cilia of renal epithelial cells. Our studies emphasize the central role of ciliary dysfunction in the pathogenesis of SLSN. 相似文献
18.
An aspartic acid repeat polymorphism in asporin inhibits chondrogenesis and increases susceptibility to osteoarthritis 总被引:21,自引:0,他引:21
Kizawa H Kou I Iida A Sudo A Miyamoto Y Fukuda A Mabuchi A Kotani A Kawakami A Yamamoto S Uchida A Nakamura K Notoya K Nakamura Y Ikegawa S 《Nature genetics》2005,37(2):138-144
Osteoarthritis is the most common form of human arthritis. We investigated the potential role of asporin, an extracellular matrix component expressed abundantly in the articular cartilage of individuals with osteoarthritis, in the pathogenesis of osteoarthritis. Here we report a significant association between a polymorphism in the aspartic acid (D) repeat of the gene encoding asporin (ASPN) and osteoarthritis. In two independent populations of individuals with knee osteoarthritis, the D14 allele of ASPN is over-represented relative to the common D13 allele, and its frequency increases with disease severity. The D14 allele is also over-represented in individuals with hip osteoarthritis. Asporin suppresses TGF-beta-mediated expression of the genes aggrecan (AGC1) and type II collagen (COL2A1) and reduced proteoglycan accumulation in an in vitro model of chondrogenesis. The effect on TGF-beta activity is allele-specific, with the D14 allele resulting in greater inhibition than other alleles. In vitro binding assays showed a direct interaction between asporin and TGF-beta. Taken together, these findings provide another functional link between extracellular matrix proteins, TGF-beta activity and disease, suggesting new therapeutic strategies for osteoarthritis. 相似文献
19.
A functional variant in FCRL3, encoding Fc receptor-like 3, is associated with rheumatoid arthritis and several autoimmunities 总被引:11,自引:0,他引:11
Kochi Y Yamada R Suzuki A Harley JB Shirasawa S Sawada T Bae SC Tokuhiro S Chang X Sekine A Takahashi A Tsunoda T Ohnishi Y Kaufman KM Kang CP Kang C Otsubo S Yumura W Mimori A Koike T Nakamura Y Sasazuki T Yamamoto K 《Nature genetics》2005,37(5):478-485
Rheumatoid arthritis is a common autoimmune disease with a complex genetic etiology. Here we identify a SNP in the promoter region of FCRL3, a member of the Fc receptor-like family, that is associated with susceptibility to rheumatoid arthritis (odds ratio = 2.15, P = 0.00000085). This polymorphism alters the binding affinity of nuclear factor-kappaB and regulates FCRL3 expression. We observed high FCRL3 expression on B cells and augmented autoantibody production in individuals with the disease-susceptible genotype. We also found associations between the SNP and susceptibility to autoimmune thyroid disease and systemic lupus erythematosus. FCRL3 may therefore have a pivotal role in autoimmunity. 相似文献
20.