Genomes and Genes
Experts and Doctors on phenotype in Kyoto, Japan
Locale: Kyoto, Japan
Publications161 found, 100 shown here
- Isozumi R, Ito Y, Ishida T, Hirai T, Ito I, Maniwa K, et al. Molecular characteristics of serotype 3 Streptococcus pneumoniae isolates among community-acquired pneumonia patients in Japan. J Infect Chemother. 2008;14:258-61 pubmed publisher..Routine surveillance for the ST180 S. pneumoniae clone may soon become necessary. ..
- Miki T, Kiyonaka S, Uriu Y, De Waard M, Wakamori M, Beedle A, et al. Mutation associated with an autosomal dominant cone-rod dystrophy CORD7 modifies RIM1-mediated modulation of voltage-dependent Ca2+ channels. Channels (Austin). 2007;1:144-7 pubmed..1 and L-type Ca(v)1.4 channels. Thus, our data can raise an interesting possibility that CORD7 phenotypes including retinal deficits and enhanced cognition are at least partly due to altered regulation of presynaptic VDCC currents. ..
- Yoshida Y, Sano R, Wada T, Takabayashi J, Okada K. Jasmonic acid control of GLABRA3 links inducible defense and trichome patterning in Arabidopsis. Development. 2009;136:1039-48 pubmed publisher..These results indicate that GL3 is a key transcription factor of wound-induced trichome formation acting downstream of JA signaling in Arabidopsis. ..
- Sato M, Hosokawa M, Doi M. Somaclonal variation is induced de novo via the tissue culture process: a study quantifying mutated cells in Saintpaulia. PLoS ONE. 2011;6:e23541 pubmed publisher..The origins of mutations were successfully distinguished; it was confirmed that somaclonal variations are mainly caused by newly generated mutations arising from tissue culture process. ..
- Koyama N, Okubo Y, Nakao K, Osawa K, Fujimura K, Bessho K. Pluripotency of mesenchymal cells derived from synovial fluid in patients with temporomandibular joint disorder. Life Sci. 2011;89:741-7 pubmed publisher..These cells may play a role in the regenerative response during arthritic diseases and are promising candidates for developing novel cell-based therapeutic approaches for postnatal skeletal tissue repair. ..
- Wheeler E, Leong A, Liu C, Hivert M, Strawbridge R, Podmore C, et al. Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis. PLoS Med. 2017;14:e1002383 pubmed publisher..Screening with direct glucose measurements, or genetically-informed HbA1c diagnostic thresholds in people with G6PD deficiency, may be required to avoid missed or delayed diagnoses. ..
- Shimizu M, Higuchi K, Bennett B, Xia C, Tsuboyama T, Kasai S, et al. Identification of peak bone mass QTL in a spontaneously osteoporotic mouse strain. Mamm Genome. 1999;10:81-7 pubmed..This association was consistent with the distribution of peak bone mass in the F1 and F2. These findings should be useful to elucidate the genetics of osteoporosis. ..
- Okudaira K, Ohno K, Yoshida H, Asano M, Hirose F, Yamaguchi M. Transcriptional regulation of the Drosophila orc2 gene by the DREF pathway. Biochim Biophys Acta. 2005;1732:23-30 pubmed..The results, taken together, demonstrate that the orc2 gene is under the control of DREF pathway. ..
- Okafuji I, Nishikomori R, Kanazawa N, Kambe N, Fujisawa A, Yamazaki S, et al. Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis. Arthritis Rheum. 2009;60:242-50 pubmed publisher..However, when attention was focused on the 2 most frequent mutations, R334W and R334Q, R334W tended to cause more obvious visual impairment. NOD2 genotyping may help predict disease progression in patients with Blau syndrome/EOS. ..
- Morimoto H, Kanatsu Shinohara M, Takashima S, Chuma S, Nakatsuji N, Takehashi M, et al. Phenotypic plasticity of mouse spermatogonial stem cells. PLoS ONE. 2009;4:e7909 pubmed publisher..These results indicate that SSCs can change their phenotype according to their microenvironment and stochastically express Kit. Our results also suggest that activated and non-activated SSCs show distinct phenotypes. ..
- Prigent S, Matsubayashi H, Yamamoto M. Transgenic Drosophila simulans strains prove the identity of the speciation gene Lethal hybrid rescue. Genes Genet Syst. 2009;84:353-60 pubmed..Transgenic experiments in D. simulans with the native promoter of CG18468 prove that it is the Lhr gene of D. simulans by inducing the lethality of the hybrid males. ..
- Komiya T, Fujita S, Watanabe K. A novel resource polymorphism in fish, driven by differential bottom environments: an example from an ancient lake in Japan. PLoS ONE. 2011;6:e17430 pubmed publisher..This is a novel example of resource polymorphism in fish within an Asian ancient lake, emphasizing the importance and generality of feeding adaptation as an evolutionary mechanism that generates morphological diversification. ..
- Fukui H, Shiba D, Asakawa K, Kawakami K, Yokoyama T. The ciliary protein Nek8/Nphp9 acts downstream of Inv/Nphp2 during pronephros morphogenesis and left-right establishment in zebrafish. FEBS Lett. 2012;586:2273-9 pubmed publisher..Interestingly, nek8 mRNA rescued inv morphant phenotypes, although inv mRNA could not rescue nek8 morphant phenotypes. These results suggest that Nek8 acts downstream of Inv function. ..
- Konuma J, Sota T, Chiba S. Quantitative genetic analysis of subspecific differences in body shape in the snail-feeding carabid beetle Damaster blaptoides. Heredity (Edinb). 2013;110:86-93 pubmed publisher..We suggest that the morphological integration of forebody parts in a small number of loci has facilitated the marked morphological diversification between subspecies of D. blaptoides. ..
- Azetsu Y, Inohaya K, Takano Y, Kinoshita M, Tasaki M, Kudo A. The sp7 gene is required for maturation of osteoblast-lineage cells in medaka (Oryzias latipes) vertebral column development. Dev Biol. 2017;431:252-262 pubmed publisher..Nevertheless, our results verified that sp7 gene expression in osteoblast-lineage cells is required for differentiation into mature osteoblasts to form the vertebral column and other skeletal structures. ..
- Umehara M, Ichikawa A, Sakamoto H, Yamada A, Yoshioka Y, Yamaguchi M, et al. Over-expression of transglutaminase in the Drosophila eye imaginal disc induces a rough eye phenotype. Mol Cell Biochem. 2010;342:223-32 pubmed publisher..These results suggested that the rough eye phenotype induced by the over-expression of dTG-A is related to an enhancement of JNK signaling pathway. ..
- Kobori A, Sarai N, Shimizu W, Nakamura Y, Murakami Y, Makiyama T, et al. Additional gene variants reduce effectiveness of beta-blockers in the LQT1 form of long QT syndrome. J Cardiovasc Electrophysiol. 2004;15:190-9 pubmed..Multiple mutations in different LQTS-related genes may modify clinical characteristics. Expanded gene survey may be required in LQT1 patients who are resistant to beta-blocker therapy. ..
- Chen E, Sutani T, Yanagida M. Cti1/C1D interacts with condensin SMC hinge and supports the DNA repair function of condensin. Proc Natl Acad Sci U S A. 2004;101:8078-83 pubmed..Cti1 is the first example of the protein that interacts with the hinge domain of SMC. Cti1 may have a supporting role for the DNA repair function of condensin. ..
- Nakatsuka R, Iwaki R, Matsuoka Y, Sumide K, Kawamura H, Fujioka T, et al. Identification and Characterization of Lineage(-)CD45(-)Sca-1(+) VSEL Phenotypic Cells Residing in Adult Mouse Bone Tissue. Stem Cells Dev. 2016;25:27-42 pubmed publisher..Further studies will therefore be required to elucidate their cellular and/or SC characteristics and the potential relationship between BD VSELs and BM VSELs. ..
- Nishikawa Y, Yamamoto H, Okegawa Y, Wada S, Sato N, Taira Y, et al. PGR5-dependent cyclic electron transport around PSI contributes to the redox homeostasis in chloroplasts rather than CO(2) fixation and biomass production in rice. Plant Cell Physiol. 2012;53:2117-26 pubmed publisher..These results suggest that CO(2) fixation and growth rate are very robust in the face of alterations in the fundamental reactions of photosynthesis under constant light conditions in rice. ..
- Ai T, Fujiwara Y, Tsuji K, Otani H, Nakano S, Kubo Y, et al. Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia. Circulation. 2002;105:2592-4 pubmed..Mutations in the KCNJ2 gene, which codes cardiac and skeletal inward rectifying K+ channels (Kir2.1), produce Andersen's syndrome, which is characterized by periodic paralysis, cardiac arrhythmia, and dysmorphic features...
- Hirasugi K, Hisa Y, Setsu T, Terashima T. Ambiguus motoneurons innervating laryngeal and esophageal muscles are malpositioned in the Reelin-deficient mutant rat, Shaking Rat Kawasaki. Acta Otolaryngol. 2007;127:213-20 pubmed
- Yoshida A, Yamamoto N, Kinoshita M, Hiroi N, Hiramoto T, Kang G, et al. Localization of septin proteins in the mouse cochlea. Hear Res. 2012;289:40-51 pubmed publisher..Immunohistochemical analysis of Sept4 null mice showed that compensatory expression of SEPT5 in the phalangeal process of Deiters' cells may have caused functional compensation of hearing ability in Sept4 null mice...
- Kihara A, Akiyama Y, Ito K. Revisiting the lysogenization control of bacteriophage lambda. Identification and characterization of a new host component, HflD. J Biol Chem. 2001;276:13695-700 pubmed..We suggest that HflD is a factor that sequesters CII from the target promoters and recruits it to the membrane where the FtsH protease is localized. ..
- Hashimoto R, Voigt B, Ishimaru Y, Hokao R, Chiba S, Serikawa T, et al. Identification of QTLs involved in the development of amygdala kindling in the rat. Exp Anim. 2013;62:181-7 pubmed..These findings clearly prove the existence of genetic influences that are involved in kindling development and suggest that substantial genetic components contribute to the progression of partial seizures into generalized seizures. ..
- Oda H, Tsukita S. Dynamic features of adherens junctions during Drosophila embryonic epithelial morphogenesis revealed by a Dalpha-catenin-GFP fusion protein. Dev Genes Evol. 1999;209:218-25 pubmed..Thus, the Dalpha-catenin-GFP fusion protein is a helpful tool to simultaneously observe morphogenetic movements and AJ dynamics at high spatio-temporal resolution. ..
- Ono M, Yaguchi H, Ohkura N, Kitabayashi I, Nagamura Y, Nomura T, et al. Foxp3 controls regulatory T-cell function by interacting with AML1/Runx1. Nature. 2007;446:685-9 pubmed..This transcriptional control of T(R)-cell function by an interaction between Foxp3 and AML1 can be exploited to control physiological and pathological T-cell-mediated immune responses. ..
- Yonezawa A, Inui K. Novel riboflavin transporter family RFVT/SLC52: identification, nomenclature, functional characterization and genetic diseases of RFVT/SLC52. Mol Aspects Med. 2013;34:693-701 pubmed publisher..In this review, we summarize recent findings on the cloning, nomenclature, functional characterization and genetic diseases of RFVT1/SLC52A1, RFVT2/SLC52A2 and RFVT3/SLC52A3. ..
- Yorifuji T, Kurokawa K, Mamada M, Imai T, Kawai M, Nishi Y, et al. Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: Phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism. J Clin Endocrinol Metab. 2004;89:2905-8 pubmed..In addition, the two cases described here show that additional factors, genetic or environmental, can have a significant influence on the phenotypic expression of HNF-1beta mutations. ..
- Nakata I, Yamashiro K, Nakanishi H, Akagi Kurashige Y, Miyake M, Tsujikawa A, et al. Prevalence and characteristics of age-related macular degeneration in the Japanese population: the Nagahama study. Am J Ophthalmol. 2013;156:1002-1009.e2 pubmed publisher..The prevalence of late AMD in Japanese people aged <70 years was similar to that observed in white populations, whereas that in Japanese people aged ?70 years was relatively lower. ..
- Ida H, Yoshida H, Nakamura K, Yamaguchi M. Identification of the Drosophila eIF4A gene as a target of the DREF transcription factor. Exp Cell Res. 2007;313:4208-20 pubmed..The results suggest that the eIF4A gene is under the control of the DREF pathway and DREF is therefore involved in the regulation of protein synthesis. ..
- Shimizu M, Higuchi K, Kasai S, Tsuboyama T, Matsushita M, Matsumura T, et al. A congenic mouse and candidate gene at the Chromosome 13 locus regulating bone density. Mamm Genome. 2002;13:335-40 pubmed..The CAG trinucleotide repeat numbers in exon 1 of this gene differ among SAM strains. We found an association of CAG repeat length with relative peak bone mass in mice. ..
- Ariyasu H, Takaya K, Iwakura H, Hosoda H, Akamizu T, Arai Y, et al. Transgenic mice overexpressing des-acyl ghrelin show small phenotype. Endocrinology. 2005;146:355-64 pubmed..These data suggest that overexpressed des-acyl ghrelin may modulate the GH-IGF-I axis and result in small phenotype in transgenic mice. ..
- Sakurai A, Matsuda M, Kiyokawa E. Activated Ras protein accelerates cell cycle progression to perturb Madin-Darby canine kidney cystogenesis. J Biol Chem. 2012;287:31703-11 pubmed publisher..The system developed here can be applied to drug screening for various cancers originating from epithelial cells...
- Akiyama Y, Kihara A, Mori H, Ogura T, Ito K. Roles of the periplasmic domain of Escherichia coli FtsH (HflB) in protein interactions and activity modulation. J Biol Chem. 1998;273:22326-33 pubmed..These results suggest that the periplasmic region of FtsH has crucial roles in the protein-protein interactions of this complex and in the modulation of its proteolytic functions against different substrates. ..
- Matsumi R, Manabe K, Fukui T, Atomi H, Imanaka T. Disruption of a sugar transporter gene cluster in a hyperthermophilic archaeon using a host-marker system based on antibiotic resistance. J Bacteriol. 2007;189:2683-91 pubmed..The Deltaapu(Tk) strain could not grow on pullulan and displayed only low levels of growth on amylose, suggesting that Apu(Tk) is a major polysaccharide-degrading enzyme in T. kodakaraensis...
- Anh N, Nishitani M, Harada S, Yamaguchi M, Kamei K. Essential role of Duox in stabilization of Drosophila wing. J Biol Chem. 2011;286:33244-51 pubmed publisher..These dDuox-knockdown fly lines would be useful tools for further studying dDuox functions during the development of Drosophila...
- Nishijima Y, Hagiya Y, Kubo T, Takei R, Katoh Y, Nakayama K. RABL2 interacts with the intraflagellar transport-B complex and CEP19 and participates in ciliary assembly. Mol Biol Cell. 2017;28:1652-1666 pubmed publisher..These results indicate that RABL2 localized to the basal body plays crucial roles in ciliary/flagellar assembly via its interaction with the IFT-B complex. ..
- Wada H, Hasegawa K, Morimoto T, Kakita T, Yanazume T, Abe M, et al. Calcineurin-GATA-6 pathway is involved in smooth muscle-specific transcription. J Cell Biol. 2002;156:983-91 pubmed..These findings demonstrate that the calcineurin pathway is associated with GATA-6 and is required for the maintenance of the differentiated phenotype in VSMCs. ..
- Shimatani K, Nakashima Y, Hattori M, Hamazaki Y, Minato N. PD-1+ memory phenotype CD4+ T cells expressing C/EBPalpha underlie T cell immunodepression in senescence and leukemia. Proc Natl Acad Sci U S A. 2009;106:15807-12 pubmed publisher..The results suggest that global T cell immunodepression in senescence and leukemia is attributable to the increase in PD-1(+) MP CD4(+) T cells expressing C/EBPalpha. ..
- Ohno S, Deguchi A, Hosokawa M, Tatsuzawa F, Doi M. A basic helix-loop-helix transcription factor DvIVS determines flower color intensity in cyanic dahlia cultivars. Planta. 2013;238:331-43 pubmed publisher..The transcripts of the genes from these promoters encoded full-length predicted proteins. These results suggested that the genotype of the promoter region in DvIVS is one of the key factors determining the flower color intensity. ..
- Kawamata J, Ikeda A, Fujita Y, Usui K, Shimohama S, Takahashi R. Mutations in LGI1 gene in Japanese families with autosomal dominant lateral temporal lobe epilepsy: the first report from Asian families. Epilepsia. 2010;51:690-3 pubmed publisher..These findings suggest that LGI1 mutations in Japanese ADLTE families may not be uncommon, and that diverse clinical phenotypes make adequate diagnosis of ADLTE difficult when only based on clinical information. ..
- Yagi N, Takeda S, Matsumoto N, Okada K. VAJ/GFA1/CLO is involved in the directional control of floral organ growth. Plant Cell Physiol. 2009;50:515-27 pubmed publisher..Our results showed that VAJ/GFA1/CLO has a novel role in the directional control of floral organ growth in Arabidopsis, possibly acting through pre-mRNA splicing. ..
- Takeda S, Iwasaki A, Matsumoto N, Uemura T, Tatematsu K, Okada K. Physical interaction of floral organs controls petal morphogenesis in Arabidopsis. Plant Physiol. 2013;161:1242-50 pubmed publisher..These results suggest that the FOP1/WSD11 products synthesized in the petal epidermis may act as a lubricant, enabling uninhibited growth of the petals as they extend between the sepals and the anthers. ..
- Zhou F, Liu Y, Rohde C, Pauli C, Gerloff D, Köhn M, et al. AML1-ETO requires enhanced C/D box snoRNA/RNP formation to induce self-renewal and leukaemia. Nat Cell Biol. 2017;19:844-855 pubmed publisher..Collectively, these findings indicate that induction of C/D box snoRNA/RNP function constitutes an important pathway in leukaemogenesis. ..
- Shiga K, Noto Y, Mizuta I, Hashiguchi A, Takashima H, Nakagawa M. A novel EGR2 mutation within a family with a mild demyelinating form of Charcot-Marie-Tooth disease. J Peripher Nerv Syst. 2012;17:206-9 pubmed publisher..Of note, both the proband and her asymptomatic son exhibited neither pes cavus nor champagne-bottle leg atrophy, suggesting that the heterozygous T387N mutation may result in a relatively mild phenotype of demyelinating CMT. ..
- Asai J, Takenaka H, Hirakawa S, Sakabe J, Hagura A, Kishimoto S, et al. Topical simvastatin accelerates wound healing in diabetes by enhancing angiogenesis and lymphangiogenesis. Am J Pathol. 2012;181:2217-24 pubmed publisher..In conclusion, a simple strategy of topically applied simvastatin may have significant therapeutic potential for enhanced wound healing in patients with impaired microcirculation such as that in diabetes. ..
- Kaya H, Shibahara K, Taoka K, Iwabuchi M, Stillman B, Araki T. FASCIATA genes for chromatin assembly factor-1 in arabidopsis maintain the cellular organization of apical meristems. Cell. 2001;104:131-42 pubmed..We suggest that CAF-1 plays a critical role in the organization of SAM and RAM during postembryonic development by facilitating stable maintenance of gene expression states. ..
- Haruna Y, Kobori A, Makiyama T, Yoshida H, Akao M, Doi T, et al. Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome. Hum Mutat. 2007;28:208 pubmed..In our study, all of the clinically diagnosed ATS patients had KCNJ2 mutations and showed a high penetrance with regard to the typical cardiac phenotypes: predominant U wave and ventricular arrhythmias, typically bidirectional VT...
- Akiyama H, Stadler H, Martin J, Ishii T, Beachy P, Nakamura T, et al. Misexpression of Sox9 in mouse limb bud mesenchyme induces polydactyly and rescues hypodactyly mice. Matrix Biol. 2007;26:224-33 pubmed..These results provide evidence that Sox9 induces ectopic chondrogenesis in mesenchymal cells and strongly suggest that its expression may be regulated by Hox genes during limb bud development...
- Takaoka M, Nakamura T, Ban Y, Kinoshita S. Phenotypic investigation of cell junction-related proteins in gelatinous drop-like corneal dystrophy. Invest Ophthalmol Vis Sci. 2007;48:1095-101 pubmed
- Sawa S, Watanabe K, Goto K, Liu Y, Shibata D, Kanaya E, et al. FILAMENTOUS FLOWER, a meristem and organ identity gene of Arabidopsis, encodes a protein with a zinc finger and HMG-related domains. Genes Dev. 1999;13:1079-88 pubmed..Our results indicate that cells at the abaxial side of the lateral organs are responsible for the normal development of the organs as well as for maintaining the activity of meristems. ..
- Kimura F, Hasegawa G, Obayashi H, Adachi T, Hara H, Ohta M, et al. Serum extracellular superoxide dismutase in patients with type 2 diabetes: relationship to the development of micro- and macrovascular complications. Diabetes Care. 2003;26:1246-50 pubmed
- Ohsako T, Hirai K, Yamamoto M. The Drosophila misfire gene has an essential role in sperm activation during fertilization. Genes Genet Syst. 2003;78:253-66 pubmed
- Aoi S, Shimotake T, Tsuda T, Deguchi E, Iwai N. Impaired expression of myogenic regulatory molecules in the pelvic floor muscles of murine embryos with anorectal malformations. J Pediatr Surg. 2005;40:805-9 pubmed..These results suggest that myogenic stem cells, available from bone marrow contents, may be used for postnatal muscle regeneration to reinforce the pelvic floor muscle function in children with ARM. ..
- Kanatsu Shinohara M, Inoue K, Ogonuki N, Miki H, Yoshida S, Toyokuni S, et al. Leukemia inhibitory factor enhances formation of germ cell colonies in neonatal mouse testis culture. Biol Reprod. 2007;76:55-62 pubmed..These results demonstrate that LIF is useful in the initiation of GS cell culture and suggest that LIF or a related cytokine is involved in the maturation of gonocytes into spermatogonia. ..
- Hirata T, Fujioka M, Takahashi K, Asano T, Ishida M, Akioka K, et al. Low molecular weight phenotype of Apo(a) is a risk factor of corticosteroid-induced osteonecrosis of the femoral head after renal transplant. J Rheumatol. 2007;34:516-22 pubmed..75, 95% CI 1.76-18.74, p = 0.0038). No significant relationships were observed between ONF and plasma Lp(a) level and SNP. Apo(a) molecular weight phenotype would be a useful predictor of ONF that develops after corticosteroid treatment. ..
- Kondo T, Asai M, Tsukita K, Kutoku Y, Ohsawa Y, Sunada Y, et al. Modeling Alzheimer's disease with iPSCs reveals stress phenotypes associated with intracellular A? and differential drug responsiveness. Cell Stem Cell. 2013;12:487-96 pubmed publisher..It also illustrates how patient-specific iPSCs can be useful for analyzing AD pathogenesis and evaluating drugs. ..
- Kobayashi D, Asano Hoshino A, Nakakura T, Nishimaki T, Ansai S, Kinoshita M, et al. Loss of zinc finger MYND-type containing 10 (zmynd10) affects cilia integrity and axonemal localization of dynein arms, resulting in ciliary dysmotility, polycystic kidney and scoliosis in medaka (Oryzias latipes). Dev Biol. 2017;430:69-79 pubmed publisher..Adult mutants exhibited sperm dysmotility, scoliosis and progressive polycystic kidney. ..
- Ohira Y, Yoshinaga T, Nomura T, Kawano F, Ishihara A, Nonaka I, et al. Gravitational unloading effects on muscle fiber size, phenotype and myonuclear number. Adv Space Res. 2002;30:777-81 pubmed..These data also indicate that predominantly slow muscles are more responsive to unloading than predominantly fast muscles. ..
- Yoshioka Y, Suyari O, Yamada M, Ohno K, Hayashi Y, Yamaguchi M. Complex interference in the eye developmental pathway by Drosophila NF-YA. Genesis. 2007;45:21-31 pubmed..On the other hand, crossing the dNF-YA over-expressing flies with Notch mutant resulted in no apparent effect on the phenotype. These results suggest that dNF-YA can disturb eye disc specification, but not eye disc growth. ..
- Kotani A, Kakazu N, Tsuruyama T, Okazaki I, Muramatsu M, Kinoshita K, et al. Activation-induced cytidine deaminase (AID) promotes B cell lymphomagenesis in Emu-cmyc transgenic mice. Proc Natl Acad Sci U S A. 2007;104:1616-20 pubmed..Thus, AID may play multiple roles in B cell lymphomagenesis. ..
- Hochegger H, Sonoda E, Takeda S. Post-replication repair in DT40 cells: translesion polymerases versus recombinases. Bioessays. 2004;26:151-8 pubmed..In this article, we aim to summarize our current understanding of post-replication repair in DT40 in the perspective of bacterial, yeast and mammalian genetics. ..
- Li Q, Ishikawa T, Miyoshi H, Oshima M, Taketo M. A targeted mutation of Nkd1 impairs mouse spermatogenesis. J Biol Chem. 2005;280:2831-9 pubmed..These results suggest that deletion of the EF-hand from Nkd1 reduces the number of the elongating spermatids at haploid stage. In contrast, the mutant Nkd1 did not affect intestinal polyposis in Apc(Delta716) mice. ..
- Nishi E, Klagsbrun M. Heparin-binding epidermal growth factor-like growth factor (HB-EGF) is a mediator of multiple physiological and pathological pathways. Growth Factors. 2004;22:253-60 pubmed
- Hoshino M, Nakamura S, Mori K, Kawauchi T, Terao M, Nishimura Y, et al. Ptf1a, a bHLH transcriptional gene, defines GABAergic neuronal fates in cerebellum. Neuron. 2005;47:201-13 pubmed..Our results suggest that Ptf1a is involved in driving neural precursors to differentiate into GABAergic neurons in the cerebellum. ..
- Thumkeo D, Shimizu Y, Sakamoto S, Yamada S, Narumiya S. ROCK-I and ROCK-II cooperatively regulate closure of eyelid and ventral body wall in mouse embryo. Genes Cells. 2005;10:825-34 pubmed..Consistently, ROCK-I(+/-)ROCK-II(+/-) double heterozygous mice also show the EOB and omphalocele phenotype...
- Chiba S, Ito K, Akiyama Y. The Escherichia coli plasma membrane contains two PHB (prohibitin homology) domain protein complexes of opposite orientations. Mol Microbiol. 2006;60:448-57 pubmed..We discuss possible significance of having PHB domains on both sides of the membrane. ..
- Shiota K, Yamada S, Komada M, Ishibashi M. Embryogenesis of holoprosencephaly. Am J Med Genet A. 2007;143A:3079-87 pubmed
- Yasuno S, Usami S, Kuwahara K, Nakanishi M, Arai Y, Kinoshita H, et al. Endogenous cardiac natriuretic peptides protect the heart in a mouse model of dilated cardiomyopathy and sudden death. Am J Physiol Heart Circ Physiol. 2009;296:H1804-10 pubmed publisher..Collectively, our findings suggest that endogenous ANP/BNP protects the heart against the death and progression of pathological remodeling in a mouse model of dilated cardiomyopathy and sudden death. ..
- Kobayashi Y, Kaya H, Goto K, Iwabuchi M, Araki T. A pair of related genes with antagonistic roles in mediating flowering signals. Science. 1999;286:1960-2 pubmed..FT acts in part downstream of CO and mediates signals for flowering in an antagonistic manner with its homologous gene, TERMINAL FLOWER1 (TFL1). ..
- Saitou M, Furuse M, Sasaki H, Schulzke J, Fromm M, Takano H, et al. Complex phenotype of mice lacking occludin, a component of tight junction strands. Mol Biol Cell. 2000;11:4131-42 pubmed..These phenotypes suggested that the functions of TJs as well as occludin are more complex than previously supposed. ..
- Kabashima K, Saji T, Murata T, Nagamachi M, Matsuoka T, Segi E, et al. The prostaglandin receptor EP4 suppresses colitis, mucosal damage and CD4 cell activation in the gut. J Clin Invest. 2002;109:883-93 pubmed..We conclude that EP4 maintains intestinal homeostasis by keeping mucosal integrity and downregulating immune response. ..
- Kishimoto Y, Koshida S, Furutani Seiki M, Kondoh H. Zebrafish maternal-effect mutations causing cytokinesis defect without affecting mitosis or equatorial vasa deposition. Mech Dev. 2004;121:79-89 pubmed..This indicates that the basic cell architectures of early embryos are largely established by the autonomous activities of the mitotic apparatus, without much dependence on the cell cleavage machinery. ..
- Shirakawa M, Ueda H, Shimada T, Koumoto Y, Shimada T, Kondo M, et al. Arabidopsis Qa-SNARE SYP2 proteins localized to different subcellular regions function redundantly in vacuolar protein sorting and plant development. Plant J. 2010;64:924-35 pubmed publisher..Thus, SYP2 proteins, including cytosolic SYP23/PLP, appear to function redundantly in vacuolar trafficking and plant development. ..
- Kuramoto N, Takizawa T, Takizawa T, Matsuki M, Morioka H, Robinson J, et al. Development of ichthyosiform skin compensates for defective permeability barrier function in mice lacking transglutaminase 1. J Clin Invest. 2002;109:243-50 pubmed..We suggest that the ichthyosiform skin phenotype in TGase 1 deficiency develops the massive hyperkeratosis as a physical compensation for the defective cutaneous permeability barrier required for survival in a terrestrial environment. ..
- Ohno M, Hiraoka Y, Matsuoka T, Tomimoto H, Takao K, Miyakawa T, et al. Nardilysin regulates axonal maturation and myelination in the central and peripheral nervous system. Nat Neurosci. 2009;12:1506-13 pubmed publisher..On the basis of these data, we propose that NRDc regulates axonal maturation and myelination in the CNS and PNS, in part, through the modulation of NRG1 shedding. ..
- Saito K, Takahashi K, Asahara M, Kiso H, Togo Y, Tsukamoto H, et al. Effects of Usag-1 and Bmp7 deficiencies on murine tooth morphogenesis. BMC Dev Biol. 2016;16:14 pubmed publisher..Bmp7 heterozygous mice exhibited significantly increased tooth sizes, suggesting that tooth size was controlled by specific gene expression. Our findings may be useful in applications of regenerative medicine and dentistry. ..
- Yamamoto N, Furuya K, Hanada K. Progressive development of the osteoblast phenotype during differentiation of osteoprogenitor cells derived from fetal rat calvaria: model for in vitro bone formation. Biol Pharm Bull. 2002;25:509-15 pubmed..This culture system provides us a suitable model for in vitro bone formation. ..
- Ishizaki R, Shin H, Mitsuhashi H, Nakayama K. Redundant roles of BIG2 and BIG1, guanine-nucleotide exchange factors for ADP-ribosylation factors in membrane traffic between the trans-Golgi network and endosomes. Mol Biol Cell. 2008;19:2650-60 pubmed publisher..Taken together with previous reports, these observations indicate that BIG2 and BIG1 play redundant roles in trafficking between the TGN and endosomes that involves the AP-1 complex. ..
- Trong Tue N, Thao D, Yamaguchi M. Role of DREF in transcriptional regulation of the Drosophila p53 gene. Oncogene. 2010;29:2060-9 pubmed publisher..These results indicate that DREF is necessary for dmp53 gene promoter activity. ..
- Sato D, Sugimura K, Satoh D, Uemura T. Crossveinless-c, the Drosophila homolog of tumor suppressor DLC1, regulates directional elongation of dendritic branches via down-regulating Rho1 activity. Genes Cells. 2010;15:485-500 pubmed publisher..All of our results suggest that Cv-c contributes to sprouting and subsequent growth of the A-P-oriented branches through negative regulation of Rho1. We discuss a role of Cv-c in dendritic growth in response to environmental cues. ..
- Miot C, Imai K, Imai C, Mancini A, Kucuk Z, Kawai T, et al. Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations. Blood. 2017;130:1456-1467 pubmed publisher..Transplantation did not appear to cure colitis, possibly as a result of cell-intrinsic disorders of the epithelial barrier. Overall, HSCT can cure most clinical features of patients with a variety of IKBKG mutations. ..
- Yamada S. Embryonic holoprosencephaly: pathology and phenotypic variability. Congenit Anom (Kyoto). 2006;46:164-71 pubmed..HPE is one of the major CNS anomalies which have been extensively studied and provides a clue to the mechanisms of normal and abnormal development of craniofacial structures. ..
- Kimura T, Nagao Y, Hashimoto H, Yamamoto Shiraishi Y, Yamamoto S, Yabe T, et al. Leucophores are similar to xanthophores in their specification and differentiation processes in medaka. Proc Natl Acad Sci U S A. 2014;111:7343-8 pubmed publisher..Our findings provide clues for revealing diverse evolutionary mechanisms of pigment cell formation in animals. ..
- Tsuruyama T, Nakamura T, Jin G, Ozeki M, Yamada Y, Hiai H. Constitutive activation of Stat5a by retrovirus integration in early pre-B lymphomas of SL/Kh strain mice. Proc Natl Acad Sci U S A. 2002;99:8253-8 pubmed..Consitutively high expression of Stat5a either by retrovirus integration or transfection of active mutant cDNA can be lymphomagenic to early pre-B cells in collaboration with a certain genetic background factor of mice. ..
- Okada T, Sonoda E, Yoshimura M, Kawano Y, Saya H, Kohzaki M, et al. Multiple roles of vertebrate REV genes in DNA repair and recombination. Mol Cell Biol. 2005;25:6103-11 pubmed..The present study gives us a new insight into cooperative function of three Rev molecules and the Polzeta (Rev3-Rev7)-independent role of Rev1 in vertebrate cells. ..