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161.
Omasu F Ezura Y Kajita M Ishida R Kodaira M Yoshida H Suzuki T Hosoi T Inoue S Shiraki M Orimo H Emi M 《Journal of human genetics》2003,48(7):342-345
Twin and family studies had shown that genetic factors are important determinants of bone mass. Multiple genes might be involved.
One candidate gene, the reversion-induced LIM gene (RIL), is a PDZ and LIM-domain-containing protein and has been localized within the cytokine cluster of chromosome 5 (5q31.1).
In a genetic study of 370 adult Japanese women, we investigated the correlation between radial bone mineral density (BMD)
and a genetic variation (−3333T→C) of the 5'-flanking region of RIL gene. A significant association was identified between the RIL variation −3333T→C and radial BMD (r=0.15, P=0.003). The variation of the RIL locus may be an important determinant of osteoporosis. 相似文献
162.
Satoshi Fujishita Noritoshi Shibuya Norio Niikawa Shigenobu Nagataki 《Journal of human genetics》1991,36(4):317-324
Polymerase chain reaction (PCR)-based diagnosis was carried out in 62 patients (57 probands) with Duchenne or Becker muscular dystrophy (DMD or BMD) and 226 members in 57 families. The PCR studies were also performed for carrier detection in 57 mothers and 58 sisters, and prenatal diagnosis of 4 fetuses at risk of DMD. The PCR with 7 sets of primers, which amplify 7 different exon-sequences of the dystrophin gene, detected gene deletion of at least one exon in 49% of the probands. The PCR with the other 4 primer sets, which amplify 3 intragenic loci, and subsequent endonuclease digestion detected in 84% of the mothers a heterozygous pattern in at least one such locus/segment. Using the same primer sets, carrier detection was successful in 5 sisters of familial DMD cases, while recombination between the ERT87 and the 3 end intragenic loci was observed in 11% of family members studied. Prenatal diagnosis was made in all the 4 fetuses; two males were affected, one male fetus non-affected, and the remaining one female fetus a carrier. Thus, the PCR study and the primers used in the present study are useful and convincing for rapid diagnosis of DMD and/or BMD. 相似文献
163.
Satoshi Kitajima Sachiko Miyagawa-Tomita Tohru Inoue Jun Kanno Yumiko Saga 《Developmental dynamics》2006,235(2):395-402
Previous fate mapping analysis, using Cre recombinase driven by the Mesp1 locus, revealed that Mesp1 is expressed in almost all of the precursors of the cardiovascular system, including the endothelium, endocardium, myocardium, and epicardium. Mesp1-nonexpressing cells were found to be restricted to the outflow tract cushion and along the interventricular septum (IVS), which is a location that is suggestive of specialized cardiac conduction system (CCS). In our current study, we examined the identity of these IVS cells by using the pattern of beta-galactosidase activity in CCS-lacZ mice. In addition, by crossing Mesp1-Cre and floxed GFP reporter mice with CCS-lacZ mice, we have calculated that approximately 20% of the ventricular CCS within the IVS corresponds to Mesp1-nonexpressing cells. These data suggest that the ventricular CCS is of heterocellular origin. Furthermore, we indicate a possibility that a population of the cells that contribute to the ventricular CCS might be distinguished at an early stage of development. 相似文献
164.
Juvenile hyaline fibromatosis: A report of two unrelated adult sibling cases and a literature review
Hideto Senzaki Yasuhiko Kiyozuka Yoshiko Uemura Nobuaki Shikata Satoshi Ueda Airo Tsubura 《Pathology international》1998,48(3):230-236
Two unrelated adult sibling cases (36- and 32-year-old females) of Juvenile hyaline fibromatosis are presented. The parents of one of these patients were non-consanguineous but natives of a small Island, and one elder sister among four siblings was affected with the same disease. The parents of the other patient were consanguineous, and one other sibling suffered from the identical disease. Both patients presented with multiple subcutaneous nodules, which they had had since infancy, and had undergone numerous surgical excisions. Light microscopy examination of skin lesions from both patients showed identical histology; an abundance of a homogenous, amorphous, eosinophlllc extracellular matrix in which spindle-shaped cells were embedded. Electron microscopically, the spindle-shaped cells had hypertrophic Golgi apparatus and dilated, rough endoplasmlc reticulum. Fine flbrillar and granular material-filled structures, the contents of which were occasionally released into the extracellular matrix, were also seen, immunohistochemically, the spindle-shaped cells were vlmentin-positive but negative for α-smooth muscle actln and S-100 protein, and the hyaline ground substance was positive for type I and type III collagen but negative for type II and type IV collagen and tenascin. Matrix metalloprotelnase-1, -2, and -9, and tissue inhibitor of matrix metalloproteinase (TlMP)-2 was positive but TIMP-1 was negative. A review of 39 cases of juvenile hyaline fibromatosis In the literature is also presented. In summary, skin lesions may be the most outstanding symptoms of juvenile hyaline fibromatosis, but joint contracture and gingival hypertrophy precede the skin manifestation. 相似文献
165.
Koichi Yamada Hiroko Inoue Satoshi Kida Shoichi Masushige Tatsuaki Nishiyama Kenji Mishima Ichiro Saito 《Pathobiology》2006,73(1):1-7
OBJECTIVE: Saliva secretion is mediated by cAMP and the calcium signaling pathway in salivary acinar cells. The PKA signaling pathway plays an important role in protein secretion through the activation of cAMP, in fluid secretion through the elevation of intracellular calcium and in the activation of cAMP response element-binding protein (CREB), which is involved in these signaling cascades. In this study, we investigated whether the activation of CREB plays a part in the salivary secretion in mice. METHODS: We examined CREB activation by assessing phosphorylation at the serine-133 position using Western blotting. RESULTS: Carbachol (a muscarinic acetylcholine agonist) and isoproterenol (a beta-adrenergic agonist) markedly activated CREB in parotid acinar cells. Carbachol and isoproterenol-induced CREB phosphorylation was blocked by atropine (a muscarinic acetylcholine antagonist) and propranolol (a beta-adrenergic antagonist), respectively. The PKA inhibitor H89 inhibited CREB activation, but the PLC inhibitor U73122 did not. Moreover, carbachol- and isoproterenol-stimulated amylase secretion from parotid acinar cells was inhibited by H89 and adenoviral dominant-negative CREB. CONCLUSION: These results indicate that the muscarinic and beta-adrenergic activation of CREB was mediated through the PKA pathway and that CREB is involved in protein secretion from parotid acinar cells. 相似文献
166.
Lehmann A Katayama S Harrison C Dhut S Kitamura K McDonald N Toda T 《Genes to cells : devoted to molecular & cellular mechanisms》2004,9(5):367-382
Skp1 is a central component of the E3 ubiquitin ligase SCF (Skp1-Cullin-1-F-box). It forms an adapter bridge between Cullin-1 and the substrate-determining component, the F-box protein. In order to establish the role of Skp1, a temperature sensitive (ts) screen was carried out using mutagenic PCR (polymerase chain reaction) and 9 independent ts mutants were isolated. Mapping the mutated residues on the 3-D structure of human Skp1 suggested that the mutants would be compromised in binding to F-box proteins but not Cullin-1 (Pcu1). In order to assess the binding properties of ts Skp1, 12 F-box proteins and Pcu1 were epitope-tagged, and co-immunoprecipitation performed. This systematic analysis showed that ts Skp1 retains binding to Pcu1. However, binding to three specific F-box proteins, essential Pof1, Pof3 involved in maintaining genome integrity, and nonessential Pof10, was reduced. skp1ts cells exhibit a G2 cell cycle delay, which is attributable to activation of the DNA damage checkpoint. Intriguingly, contrary to pof3 mutants, in which this checkpoint is required for survival, checkpoint abrogation in skp1(ts) suppresses a G2 delay and furthermore almost rescues the ts phenotype. The activation mechanism of the DNA damage checkpoint therefore differs between pof3Delta and skp1(ts), implicating a novel role for Skp1 in the checkpoint-signalling cascade. 相似文献
167.
Natalio Garbi Satoshi Tanaka Maries Van Den Broek Frank Momburg Günter J. Hmmerling 《Immunological reviews》2005,207(1):77-88
Summary: Assembly of major histocompatibility complex (MHC) class I molecules in the endoplasmic reticulum is a highly coordinated process that results in abundant class I/peptide complexes at the cell surface for recognition by CD8+ T cells and natural killer cells. During the assembly process, a number of chaperones and accessory molecules, such as transporter associated with antigen processing, tapasin, ER60, and calreticulin, assist newly synthesized class I molecules to facilitate loading of antigenic peptides and to optimize the repertoire of surface class I/peptide complexes. This review focuses on the relative importance of these accessory molecules for CD8+ T‐cell responses in vivo and discusses reasons that may help explain why some CD8+ T‐cell responses develop normally in mice deficient in components of class I assembly, despite impaired antigen presentation. 相似文献
168.
Horikoshi H Kinomoto M Kurosu T Komoto S Shiraga M Otake T Mukai T Ikuta K 《Virology》2002,293(1):94-102
A significant increase in the CD38(+) population among T lymphocytes has been observed in human immunodeficiency virus type 1 (HIV-1)-infected carriers. We previously reported a higher replication rate of T-tropic HIV-1 in the CD4(+)CD38(+)CD62L(+) than CD38(-) subset under conditions of mitogen stimulation after infection. Here, we revealed a similarly high susceptibility in the CD38(+) subset on culture with conditioned medium containing Th2 cytokine, interleukin (IL)-4 that was produced endogenously from this subset on stimulation with mitogen or anti-CD3 antibody for 3 days. The contribution of IL-4 to the upregulated production of virus in the CD38(+) subset was confirmed by culture of this subset with recombinant human IL-4. In contrast, the rate of replication in the CD38(-) subset was not augmented in the conditioned medium from either subset or with IL-4. However, there were no differences in the surface expression of IL-4 receptor or HIV-1 receptors CD4 and CXCR4 between the two subsets. Thus, the CD4(+)CD38(+)CD62L(+) subset comprises a specific cell population secreting endogenous Th2 cytokine that contributes to the efficient production of T-tropic HIV-1 through upregulation at a certain stage of the viral life cycle, probably after the adsorption step. 相似文献
169.
170.
Electron-dense deposition patterns and the outcomes of idiopathic membranous nephropathy in Japanese 总被引:1,自引:0,他引:1
Hitoshi Yokoyama Keiichi Yoshimoto Takashi Wada Kengo Furuichi Satoshi Goshima Hiroshi Kida Ken-ichi Kobayashi 《Medical Electron Microscopy》2002,35(2):81-86
A considerable diversity in prognosis is seen with membranous nephropathy (MN). In terms of pathological findings, the presence of tubulointerstitial lesions was emphasized as a poor prognostic factor. However, the glomerular factors affecting the long-term outcome of idiopathic human MN have remained unclear. We reviewed the initial clinicopathological factors affecting the primary and secondary outcomes in 105 patients with primary MN, as well as reviewing previous reports. Based on electron microscopic (EM) findings, we could divide patients into two subtypes and one subgroup; i.e., homogeneous type with a synchronous phase of electron-dense deposits, with large dense deposits (deep subgroup) and heterogeneous type with various phases of dense deposits. The homogeneous type showed no endstage renal failure, and had earlier remission as compared with the heterogeneous type. For the secondary outcome, heterogeneous type and deep subgroup were also independent risk factors. However, there was no significant difference in the final primary or secondary outcome for any treatment subgroups. These results indicated that our category of EM findings was a beneficial marker of the primary and secondary outcomes in MN; the homogeneous type of MN with synchronous phase of electron-dense deposits (except for the "deep" subgroup) had a good outcome. 相似文献