Experts and Doctors on mutation in Shanghai, Shanghai Shi, China


Locale: Shanghai, Shanghai Shi, China
Topic: mutation

Top Publications

  1. Xie P, Zeng A, Lv X, Cheng Q, Qin Z. A putative transglycosylase encoded by SCO4132 influences morphological differentiation and actinorhodin production in Streptomyces coelicolor. Acta Biochim Biophys Sin (Shanghai). 2013;45:296-302 pubmed publisher
    ..tgdA expression is temporally and developmentally regulated. The tgdA orthologs in Streptomyces avermilitis and Streptomyces lividans also affect differentiation. ..
  2. Fu Q, Wang H, Wang M, Ding Q, Wu W, Hu Y, et al. [Two novel factor V gene mutations associated with congenital coagulation factor V deficiency, study of one pedigree]. Zhonghua Yi Xue Za Zhi. 2003;83:312-5 pubmed
    ..No 1348G-->T mutation was found in the 108 controls. The FV deficiency of the propositus is caused by missense mutation of G1348T and frameshift mutation of 4887 approximately 8delG, which haven't been identified previously. ..
  3. Wang J, Yao M, Zhang Z, Zhang Y, Wang Y, Liu X. HSF1 blockade-induced tumor thermotolerance abolishment is mediated by JNK-dependent caspase-3 activation. Biochem Biophys Res Commun. 2004;321:736-45 pubmed
    ..Our results suggest that mHSF1 plays a valuable role in the thermotolerance abolishment of Bcap37 cells, which likely contributes to tumor therapy in combination with hyperthermia. ..
  4. Wang M, Wang J, Zhang Z, Zhao Z, Zhang R, Hu X, et al. Dissecting phenotypic variation among AIS patients. Biochem Biophys Res Commun. 2005;335:335-42 pubmed
  5. Wang L, Liang Y, Li Z, Cai X, Zhang W, Wu G, et al. Increase in beta1-6 GlcNAc branching caused by N-acetylglucosaminyltransferase V directs integrin beta1 stability in human hepatocellular carcinoma cell line SMMC-7721. J Cell Biochem. 2007;100:230-41 pubmed
    ..Glycosylation caused by GnT-V directs integrin beta1 stability and more delivery to plasma membrane, subsequently promotes Fn-based cell migration and invasion. ..
  6. Li Q, Xin T, Chen W, Zhu M, Li M. Lethal(2)giant larvae is required in the follicle cells for formation of the initial AP asymmetry and the oocyte polarity during Drosophila oogenesis. Cell Res. 2008;18:372-84 pubmed publisher
    ..Thus, we provide the first demonstration that lgl is implicated in the formation of the initial AP asymmetry and the patterning of the AP and DV axes in the oocyte by acting in the specification of a subset of somatic follicle cells. ..
  7. Chen Y, Jiang D, Yu L, Katz B, Zhang K, Wan B, et al. CYP1B1 and MYOC mutations in 116 Chinese patients with primary congenital glaucoma. Arch Ophthalmol. 2008;126:1443-7 pubmed publisher
    ..Clinical Relevance Patients with primary congenital glaucoma and CYP1B1 mutations tend to have a more severe phenotype than those without mutations. Genetic testing of CYP1B1 mutations may help predict new cases and their prognoses. ..
  8. Chen Y, Wang F, Xu J, Mehmood M, Xiao X. Physiological and evolutionary studies of NAP systems in Shewanella piezotolerans WP3. ISME J. 2011;5:843-55 pubmed publisher
    ..Moreover, the data presented here will be very useful for the designed engineering of Shewanella for more efficient respiring capabilities for environmental bioremediation. ..
  9. Zheng H, Yu Y. TOP2 gene is involved in the pathogenicity of Candida albicans. Mol Cell Biochem. 2012;364:45-52 pubmed publisher

More Information

Publications610 found, 100 shown here

  1. Xiang J, Zhang G, Qian Q, Xue H. Semi-rolled leaf1 encodes a putative glycosylphosphatidylinositol-anchored protein and modulates rice leaf rolling by regulating the formation of bulliform cells. Plant Physiol. 2012;159:1488-500 pubmed publisher
  2. Ji W, Benson M, Bhattacharya S, Chen Y, Hu J, Li F. Characterization of transcription factor AP-2 β mutations involved in familial isolated patent ductus arteriosus suggests haploinsufficiency. J Surg Res. 2014;188:466-472 pubmed publisher
    ..435_438delCCGG mutation did not impact the transactivation function activated by the wild-type TFAP2B. These results suggest that a haploinsufficiency effect of TFAP2B could be involved in familial isolated PDA. ..
  3. Qian R, Cao Y, Long Y. Dual-Targeting Nanovesicles for In Situ Intracellular Imaging of and Discrimination between Wild-type and Mutant p53. Angew Chem Int Ed Engl. 2016;55:719-23 pubmed publisher
    ..Thus, a one-step incubation method for the in situ imaging of intracellular WTp53 and MUp53 was obtained; this was used to monitor the p53 level under a drug treatment. ..
  4. Zhang J, Lu B, Liu D, Shen R, Yan Y, Yang L, et al. EBI-907, a novel BRAF(V600E) inhibitor, has potent oral anti-tumor activity and a broad kinase selectivity profile. Cancer Biol Ther. 2016;17:199-207 pubmed publisher
    ..Our findings present EBI-907 as a potent and promising BRAF inhibitor, which might be useful in broader indications. ..
  5. Sun Y, Zhou Q, Zhang W, Fu Y, Huang H. ASYMMETRIC LEAVES1, an Arabidopsis gene that is involved in the control of cell differentiation in leaves. Planta. 2002;214:694-702 pubmed
    ..High levels of AS1 expression were found in tissues with highly proliferative cells, which further suggests a role in cell division and early cell differentiation. ..
  6. Liu L, Furuta H, Minami A, Zheng T, Jia W, Nanjo K, et al. A novel mutation, Ser159Pro in the NeuroD1/BETA2 gene contributes to the development of diabetes in a Chinese potential MODY family. Mol Cell Biochem. 2007;303:115-20 pubmed
    ..These results suggest that the novel Ser159Pro mutation in the NeuroD1/BETA2 gene contributes to the development of diabetes in a Chinese potential MODY family. ..
  7. Wang Y, Kanegane H, Wang X, Han X, Zhang Q, Zhao S, et al. Mutation of the BTK gene and clinical feature of X-linked agammaglobulinemia in mainland China. J Clin Immunol. 2009;29:352-6 pubmed publisher
    ..Clinical features and serum Igs levels range variedly and were not correlated with genotypes. Our results demonstrated molecular genetic characteristics of XLA in mainland China. ..
  8. Xiao M, Wang Y, Zhu Z, Yu J, Wan L, Chen J. Influence of NS5A protein of classical swine fever virus (CSFV) on CSFV internal ribosome entry site-dependent translation. J Gen Virol. 2009;90:2923-8 pubmed publisher
  9. Li H, Deng Y, Wu T, Subramanian S, Yu O. Misexpression of miR482, miR1512, and miR1515 increases soybean nodulation. Plant Physiol. 2010;153:1759-70 pubmed publisher
    ..These results suggested that miRNAs play important roles in soybean nodule development. ..
  10. Yu J, Niu C, Wang D, Li M, Teo W, Sun G, et al. MMAR_2770, a new enzyme involved in biotin biosynthesis, is essential for the growth of Mycobacterium marinum in macrophages and zebrafish. Microbes Infect. 2011;13:33-41 pubmed publisher
    ..The potential role of MMAR_2770 in mycobacterial biotin biosynthesis is discussed...
  11. Gong R, Li L, Liu Y, Wang P, Yang H, Wang L, et al. Crystal structure of the Gtr1p-Gtr2p complex reveals new insights into the amino acid-induced TORC1 activation. Genes Dev. 2011;25:1668-73 pubmed publisher
    ..Our results reveal a structural model for the mechanism of the Rag GTPases in TORC1 activation and amino acid signaling. ..
  12. Qi J, Zhang K, Zhang Q, Sun Y, Fu T, Li G, et al. Identification, characterization, and epitope mapping of human monoclonal antibody J19 that specifically recognizes activated integrin ?4?7. J Biol Chem. 2012;287:15749-59 pubmed publisher
    ..Taken together, J19 is a potentially powerful tool for both studies on ?(4)?(7) activation mechanism and development of novel therapeutics targeting the activated lymphocyte expressing high affinity ?(4)?(7). ..
  13. Cheng R, Li M, Zhang H, Guo Y, Chen X, Tao J, et al. Common FLG mutation K4671X not associated with atopic dermatitis in Han Chinese in a family association study. PLoS ONE. 2012;7:e49158 pubmed publisher
    ..AD patients from none-IV family trios have low probability of carrying FLG mutations. The present family samples confirmed the susceptibility of mutation 3321delA to AD in Han Chinese. K4671X was not a pathogenic mutation. ..
  14. Liu R, Zhou M, Fang Z, Wang M, Zhou X, Wang E. The tRNA recognition mechanism of the minimalist SPOUT methyltransferase, TrmL. Nucleic Acids Res. 2013;41:7828-42 pubmed publisher
  15. Zhang Y, Jin B, Shao M, Dong Y, Lou Y, Huang A, et al. Monitoring of carcinoembryonic antigen levels is predictive of EGFR mutations and efficacy of EGFR-TKI in patients with lung adenocarcinoma. Tumour Biol. 2014;35:4921-8 pubmed publisher
    ..The variation types of CEA level could help us to predict the efficacy of EGFR-TKI in patients harboring EGFR mutation within only 1 month of tyrosine kinase inhibitor therapy. ..
  16. Akiyama Y, Koda Y, Byeon S, Shimada S, Nishikawaji T, Sakamoto A, et al. Reduced expression of SET7/9, a histone mono-methyltransferase, is associated with gastric cancer progression. Oncotarget. 2016;7:3966-83 pubmed publisher
    ..These data suggest that SET7/9 has tumor suppressor functions, and loss of SET7/9 may contribute to gastric cancer progression. ..
  17. Sun J, Groppi V, Gui H, Chen L, Xie Q, Liu L, et al. High-Throughput Screening for Drugs that Modulate Intermediate Filament Proteins. Methods Enzymol. 2016;568:163-85 pubmed publisher
    ..The ultimate goal of this drug screening approach is to identify effective and safe compounds that can potentially be tested for clinical efficacy in patients. ..
  18. Zeng B, Huang Y, Xu J, Shiotsuki T, Bai H, Palli S, et al. The FOXO transcription factor controls insect growth and development by regulating juvenile hormone degradation in the silkworm, Bombyx mori. J Biol Chem. 2017;292:11659-11669 pubmed publisher
    ..mori In conclusion, we have uncovered a pivotal role for FOXO in regulating JH signaling to control insect development. ..
  19. Guo J, Yang Z, Song W, Chen Q, Wang F, Zhang Q, et al. Nudel contributes to microtubule anchoring at the mother centriole and is involved in both dynein-dependent and -independent centrosomal protein assembly. Mol Biol Cell. 2006;17:680-9 pubmed
    ..Moreover, Nudel seems to tether dynactin and dynein to the mother centriole for MT anchoring. ..
  20. Chen L, Feng Y, Zhou Y, Zhu W, Shen X, Chen K, et al. Dual role of Zn2+ in maintaining structural integrity and suppressing deacetylase activity of SIRT1. J Inorg Biochem. 2010;104:180-5 pubmed publisher
    ..On the other hand, Zn(2+) may also bind to another site different from the zinc-finger motif or the binding sites for the substrates or resveratrol and act as a potent inhibitor of SIRT1. ..
  21. Xing Y, Qiu W, Ye J, Han L, Xu S, Zhang H, et al. [Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010;27:180-5 pubmed publisher
    ..To investigate the clinical and laboratory features of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and to characterize the molecular basis and prognosis of this disease...
  22. Jin P, Jiang W, Yan H, Liu L, Gu S, Wang X, et al. Novel mutations in congenital factor XII deficiency. Front Biosci (Landmark Ed). 2016;21:419-29 pubmed
    ..Such dominant negative effects were not due to the dimerization of FXII. Our findings suggest that the three mutations in the F12 gene are the causing reasons for the cross-reactive material-negative FXII deficiencies. ..
  23. Guo L, Li G, Xu H, Huang Q, Lin W, Ling W, et al. [p53 gene expression of human hepatoma cell lines and their sensitivities to parvovirus H-1]. Shi Yan Sheng Wu Xue Bao. 1999;32:23-9 pubmed
    ..The present study serves as a preliminary evidence that enhancement of the sensitivity of human hepatoma cell lines to H-1 is correlated to the abnormality of the structure and/or function of the p53 gene...
  24. Zhou X, He X, Li A, Lei F, Kieser T, Deng Z. Streptomyces coelicolor A3(2) lacks a genomic island present in the chromosome of Streptomyces lividans 66. Appl Environ Microbiol. 2004;70:7110-8 pubmed
    ..lividans ZX1 and its progenitor 66, as well as the sequenced genome of its close relative, Streptomyces coelicolor M145, reveals that the ca. 90-kb deletion in strain ZX1 may have originated from an insertion from an unknown source...
  25. Guo L, Chen X, Zhao B, Shi Y, Li W, Xue H, et al. Human tryptophanyl-tRNA synthetase is switched to a tRNA-dependent mode for tryptophan activation by mutations at V85 and I311. Nucleic Acids Res. 2007;35:5934-43 pubmed
    ..The results suggest that an aaRS that does not normally require tRNA for amino acid activation can be switched to a tRNA-dependent mode. ..
  26. Liu P, Nie S, Li B, Yang Z, Xu Z, Fei J, et al. Deficiency in a glutamine-specific methyltransferase for release factor causes mouse embryonic lethality. Mol Cell Biol. 2010;30:4245-53 pubmed publisher
    ..Thus, N6amt1 is the first glutamine-specific protein methyltransferase characterized in vivo in mammals and methylation of eRF1 by N6amt1 might be essential for the viability of early embryos. ..
  27. Zhao X, Li Z, Zhang X. G6PD-MutDB: a mutation and phenotype database of glucose-6-phosphate (G6PD) deficiency. J Bioinform Comput Biol. 2010;8 Suppl 1:101-9 pubmed
    ..This database is available from ..
  28. Wu Y, Li X, Zhu J, Xie W, Le W, Fan Z, et al. Resveratrol-activated AMPK/SIRT1/autophagy in cellular models of Parkinson's disease. Neurosignals. 2011;19:163-74 pubmed publisher
  29. Han Z. Functional genomic studies: insights into the pathogenesis of liver cancer. Annu Rev Genomics Hum Genet. 2012;13:171-205 pubmed publisher
  30. Wang R, Pan Y, Li C, Hu H, Zhang Y, Li H, et al. The use of quantitative real-time reverse transcriptase PCR for 5' and 3' portions of ALK transcripts to detect ALK rearrangements in lung cancers. Clin Cancer Res. 2012;18:4725-32 pubmed publisher
    ..Real-time RT-PCR is a rapid and accurate method for diagnosing ALK-rearranged lung cancers. Coupling of 5' RACE to this method should further facilitate rapid identification of novel ALK fusion genes. ..
  31. Wang F, Wang Y, Cao Q, Zhang J, Huang L, Sang T, et al. Hydrogen peroxide induced impairment of endothelial progenitor cell viability is mediated through a FoxO3a dependant mechanism. Microvasc Res. 2013;90:48-54 pubmed publisher
    ..Our data indicate FoxO3a as a potential therapeutic target for improvement of EPC number and function in patients with ischemic heart disease. ..
  32. Zhu Z, Yan J, Jiang W, Yao X, Chen J, Chen L, et al. Arctigenin effectively ameliorates memory impairment in Alzheimer's disease model mice targeting both ?-amyloid production and clearance. J Neurosci. 2013;33:13138-49 pubmed publisher
  33. Jiang L, Liu X, Xiong G, Liu H, Chen F, Wang L, et al. DWARF 53 acts as a repressor of strigolactone signalling in rice. Nature. 2013;504:401-5 pubmed publisher
    ..Moreover, D53 can interact with transcriptional co-repressors known as TOPLESS-RELATED PROTEINS. Our results suggest a model of SL signalling that involves SL-dependent degradation of the D53 repressor mediated by the D14-D3 complex. ..
  34. Zhou C, Yao L. Strategies to Improve Outcomes of Patients with EGRF-Mutant Non-Small Cell Lung Cancer: Review of the Literature. J Thorac Oncol. 2016;11:174-86 pubmed publisher
    ..Results of ongoing studies will provide more insight into effective treatment strategies for patients with EGFR mutations. ..
  35. Ju L, Han M, Zhao C, Li X. EGFR, KRAS and ROS1 variants coexist in a lung adenocarcinoma patient. Lung Cancer. 2016;95:94-7 pubmed publisher
    ..This patient had an excellent response to Icotinib but not crizotinib, suggesting that the EGFR mutation was the oncogenic driver but ROS1 fusion and KRAS mutation not. ..
  36. Yang Y, Li J, Lin X, Yang Y, Hong K, Wang L, et al. Novel KCNA5 loss-of-function mutations responsible for atrial fibrillation. J Hum Genet. 2009;54:277-83 pubmed publisher
    ..These findings expand the spectrum of mutations in KCNA5 linked to AF and provide new insight into the molecular mechanism involved in AF. ..
  37. Zhang B, Tan Z, Zhang C, Shi Y, Lin Z, Gu N, et al. Polymorphisms of chromogranin B gene associated with schizophrenia in Chinese Han population. Neurosci Lett. 2002;323:229-33 pubmed
    ..01). Our results confirm the role of neuropeptides in the pathogenesis of schizophrenia. ..
  38. Zha M, Guo Q, Zhang Y, Yu B, Ou Y, Zhong C, et al. Molecular mechanism of ADP-ribose hydrolysis by human NUDT5 from structural and kinetic studies. J Mol Biol. 2008;379:568-78 pubmed publisher
    ..Structural comparison of different ADPRases also suggests that most dimeric ADPRases may share a similar catalytic mechanism of ADPR hydrolysis. ..
  39. Wang L, Yin H, Qian Q, Yang J, Huang C, Hu X, et al. NECK LEAF 1, a GATA type transcription factor, modulates organogenesis by regulating the expression of multiple regulatory genes during reproductive development in rice. Cell Res. 2009;19:598-611 pubmed publisher
    ..On the basis of these findings, we propose that NL1 is an intrinsic factor that modulates and coordinates organogenesis through regulating the expression of PLA1 and other regulatory genes during reproductive development in rice...
  40. Chen Y, Zhao W, Li F, Ji W, Fu Q, Zhang Z, et al. [Mutation of TFAP-2B gene in patients with patent ductus arteriosus]. Zhonghua Er Ke Za Zhi. 2010;48:900-4 pubmed
    ..513, P = 0.012). We identified a novel splice-junction in TFAP-2B gene which might lead to hereditary PDA in a Chinese family. However, the mechanism by which this mutation results in PDA is still to be ascertained. ..
  41. Yu Q, Wang T, Zhou X, Wu J, Chen X, Liu Y, et al. Wld(S) reduces paraquat-induced cytotoxicity via SIRT1 in non-neuronal cells by attenuating the depletion of NAD. PLoS ONE. 2011;6:e21770 pubmed publisher
  42. Chen L, Zhang Q, Chang W, Du Y, Zhang H, Cao G. Viral and host inflammation-related factors that can predict the prognosis of hepatocellular carcinoma. Eur J Cancer. 2012;48:1977-87 pubmed publisher
  43. Yang H, Ye D, Guan K, Xiong Y. IDH1 and IDH2 mutations in tumorigenesis: mechanistic insights and clinical perspectives. Clin Cancer Res. 2012;18:5562-71 pubmed publisher
    ..Therapeutically, unique features of IDH1 and IDH2 mutations make them good biomarkers and potential drug targets. ..
  44. Cao Y, He M, Gao Z, Peng Y, Li Y, Li L, et al. Activating hotspot L205R mutation in PRKACA and adrenal Cushing's syndrome. Science. 2014;344:913-7 pubmed publisher
    ..Moreover, we discovered the recurrently mutated gene DOT1L in AIMAHs and CLASP2 in ADOs. Collectively, these data highlight potentially functional mutated genes in adrenal Cushing's syndrome. ..
  45. Cui L, Zhu Y, Guan X, Deng Z, Bai L, Feng Y. De Novo Biosynthesis of β-Valienamine in Engineered Streptomyces hygroscopicus 5008. ACS Synth Biol. 2016;5:15-20 pubmed publisher
    ..This work provides a powerful alternative for preparing the chiral intermediates for pharmaceutical development. ..
  46. Zeng L, Gu S, Li Y, Zhao E, Xu J, Ye X, et al. Identification of a novel human doublecortin-domain-containing gene (DCDC1) expressed mainly in testis. J Hum Genet. 2003;48:393-6 pubmed
    ..Expression analysis showed that DCDC1 was mainly expressed in adult testis. Furthermore, the expression level of DCDC1 in fetal brain was much higher than in adult brain. ..
  47. Liu L, Wang X, Wang Z, Zhu Q, Wang J. Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT. J Pediatr Gastroenterol Nutr. 2010;50:179-83 pubmed publisher
    ..The aim of the study was to elucidate the role and characteristics of ATP8B1 gene mutations in mainland Chinese children with progressive intrahepatic cholestasis and low gamma-glutamyltransferase (GGT)...
  48. Cui Y, Jia Q, Yin Q, Lin G, Kong M, Yang Z. The GDC1 gene encodes a novel ankyrin domain-containing protein that is essential for grana formation in Arabidopsis. Plant Physiol. 2011;155:130-41 pubmed publisher
    ..This shows that GDC1 may play an indirect role in LHCII trimerization during grana formation. ..
  49. Huang T, Niu S, Xu Z, Huang Y, Kong X, Cai Y, et al. Predicting transcriptional activity of multiple site p53 mutants based on hybrid properties. PLoS ONE. 2011;6:e22940 pubmed publisher
    ..Our study has provided a new and promising approach for finding functionally important sites and the relevant features for in-depth study of p53 protein and its action mechanism. ..
  50. Chen F, Zhang Z, Lin K, Qian T, Zhang Y, You D, et al. Crystal structure of the cysteine desulfurase DndA from Streptomyces lividans which is involved in DNA phosphorothioation. PLoS ONE. 2012;7:e36635 pubmed publisher
  51. Huang M, Huang T, Xiang Y, Xie Z, Chen Y, Yan R, et al. Ptf1a, Lbx1 and Pax2 coordinate glycinergic and peptidergic transmitter phenotypes in dorsal spinal inhibitory neurons. Dev Biol. 2008;322:394-405 pubmed publisher
    ..Our studies therefore suggest a coordinated and hierarchical specification of a variety of neurotransmitters in dorsal spinal inhibitory neurons. ..
  52. Hu T, Zhang Y, Li L, Wang K, Chen S, Chen J, et al. Two adjacent mutations on the dimer interface of SARS coronavirus 3C-like protease cause different conformational changes in crystal structure. Virology. 2009;388:324-34 pubmed publisher
    ..Moreover, a plausible dimerization mechanism was also deduced from structural analysis. Our work is expected to provide insight on the dimerization-function relationship of SARS-CoV 3CL(pro). ..
  53. Kang C, Lian H, Wang F, Huang J, Yang H. Cryptochromes, phytochromes, and COP1 regulate light-controlled stomatal development in Arabidopsis. Plant Cell. 2009;21:2624-41 pubmed publisher
    ..These findings suggest that light-controlled stomatal development is likely mediated through a crosstalk between the cryptochrome-phytochrome-COP1 signaling system and the mitogen-activated protein kinase signaling pathway. ..
  54. Gao H, Chu Y, Xue H. Phosphatidic acid (PA) binds PP2AA1 to regulate PP2A activity and PIN1 polar localization. Mol Plant. 2013;6:1692-702 pubmed publisher
    ..As PA and PP2A are conserved among eukaryotes, other organisms might use similar mechanisms to mediate multiple biological processes. ..
  55. Yang Y, Shi C, Sun H, Yin W, Zhou X, Zhang L, et al. Elderly male smokers with right lung tumors are viable candidates for KRAS mutation screening. Sci Rep. 2016;6:18566 pubmed publisher
    ..Elderly male smokers with right lung tumors were viable candidates for KRAS mutation screening. ..
  56. Gao B, Guo J, She C, Shu A, Yang M, Tan Z, et al. Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1. Nat Genet. 2001;28:386-8 pubmed
    ..The three mutant amino acids, which are conserved across all vertebrates and invertebrates studied so far, are predicted to be adjacent on the surface of IHH...
  57. Wu Z, Lin Y, Chen W, Zhao G, Xie H, Murong S, et al. Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families. Clin Genet. 2008;74:513-21 pubmed publisher
    ..However, it is necessary to know the genetic defects of DRD patients in clinics, which will help elucidate the mode of inheritance, facilitate causal therapy with levodopa and evaluate the prognosis. ..
  58. Zhang R, Chen C, Sun Z, Tan F, Zhuang J, Tian D, et al. Disulfide linkages mediating nucleocapsid protein dimerization are not required for porcine arterivirus infectivity. J Virol. 2012;86:4670-81 pubmed publisher
    ..These results demonstrate that the disulfide linkages mediating the N dimerization are not required for PRRSV viability and help to promote our understanding of the mechanism underlying arterivirus particle assembly. ..
  59. Li G, Zhang J, Li J, Yang Z, Huang H, Xu L. Imitation Switch chromatin remodeling factors and their interacting RINGLET proteins act together in controlling the plant vegetative phase in Arabidopsis. Plant J. 2012;72:261-70 pubmed publisher
    ..Our study reveals that AtISWI and RLTs represent a previously unrecognized genetic pathway that is required for the maintenance of the plant vegetative phase. ..
  60. Huang Y, Liu X, Tang K, Zuo K. Functional analysis of the seed coat-specific gene GbMYB2 from cotton. Plant Physiol Biochem. 2013;73:16-22 pubmed publisher
    ..These results indicate that GbMYB2 is an R2R3-MYB gene that is involved in fiber development. ..
  61. Li M, Wu J, Liu X, Lin J, Wei D, Chen H. Enhanced production of dihydroxyacetone from glycerol by overexpression of glycerol dehydrogenase in an alcohol dehydrogenase-deficient mutant of Gluconobacter oxydans. Bioresour Technol. 2010;101:8294-9 pubmed publisher
    ..2g/g CDW/h. These results indicated that this newly developed strain G. oxydans M5AM/GDH with high productivity and increased tolerance against product inhibition has potential for DHA production in an industrial bioconversion process...
  62. Liu X, Wang J, Yang Y, Zhang Y, Chen X, Zhang W, et al. Novel NKX2-5 mutations in patients with familial atrial septal defects. Pediatr Cardiol. 2011;32:193-201 pubmed publisher
    ..The findings expand the spectrum of mutations in NKX2-5 linked to ASD and contribute to genetic counseling, clinical interventions, and prenatal prevention of ASD for individuals with genetic susceptibility. ..
  63. Zhang H, Xu C, He Y, Zong J, Yang X, Si H, et al. Mutation in CSA creates a new photoperiod-sensitive genic male sterile line applicable for hybrid rice seed production. Proc Natl Acad Sci U S A. 2013;110:76-81 pubmed publisher
    ..The csa-based photoperiod-sensitive male sterile line allows the establishment of a stable two-line hybrid system, which promises to have a significant impact on agriculture. ..
  64. Xie W, Chang C, Xu Y, Li R, Qu X, Fang W, et al. Prevalence and spectrum of Nkx2.5 mutations associated with idiopathic atrial fibrillation. Clinics (Sao Paulo). 2013;68:777-84 pubmed publisher
    ..These results also have potential implications for early prophylaxis and allele-specific therapy of this common arrhythmia. ..
  65. Mao J, Zhang Y, Sang Y, Li Q, Yang H. From The Cover: A role for Arabidopsis cryptochromes and COP1 in the regulation of stomatal opening. Proc Natl Acad Sci U S A. 2005;102:12270-5 pubmed
    ..These results indicate that CRY functions additively with PHOT in mediating blue light-induced stomatal opening and that COP1 is a repressor of stomatal opening and likely acts downstream of CRY and PHOT signaling pathways. ..
  66. Ding Z, Chen D, Ni F, Zheng Q, Cai B, Yao W, et al. Incorporation of a glycine within the conserved TCPCP motif of human neuronal growth inhibitory factor significantly reduces its bioactivity. Biochem Biophys Res Commun. 2008;372:779-84 pubmed publisher
  67. Liu Q, Yao X, Pi L, Wang H, Cui X, Huang H. The ARGONAUTE10 gene modulates shoot apical meristem maintenance and establishment of leaf polarity by repressing miR165/166 in Arabidopsis. Plant J. 2009;58:27-40 pubmed publisher
    ..These results indicate that AGO10 and RDR6/AGO7 may act in parallel in modulating accumulation of miR165/166 for normal plant development. ..
  68. Wang Z, Li Y, Wang B, He Y, Wang Y, Xi H, et al. A haplotype of the catalase gene confers an increased risk of essential hypertension in Chinese Han. Hum Mutat. 2010;31:272-8 pubmed publisher
    ..9%) in blood from normal individuals (P<0.01). We therefore hypothesize that CATH1 and CATH2 may play alternating roles at different level of oxidative stress. ..
  69. Su J, Zhou Q, Zhang H, Li Y, Huang X, Xu Y. Medium optimization for phenazine-1-carboxylic acid production by a gacA qscR double mutant of Pseudomonas sp. M18 using response surface methodology. Bioresour Technol. 2010;101:4089-95 pubmed publisher
    ..The double mutant M18GQ produced 4032.2mg/L PCA, which was almost 2 to 3.3-fold that produced by either single mutant M18G and M18Q. The achieved production level is economically useful for industrial application. ..
  70. Yin J, Xie J, Liu S, Zhang H, Han L, Lu W, et al. Association between the various mutations in viral core promoter region to different stages of hepatitis B, ranging of asymptomatic carrier state to hepatocellular carcinoma. Am J Gastroenterol. 2011;106:81-92 pubmed publisher
    ..C1673T, A1726C, A1727T, C1730G, C1766T, T1768A, C1773T, and C1799G in genotype C are specific for cirrhosis. A1846T and T1674C/G are novel factors independently associated with cirrhosis and HCC, respectively. ..
  71. Yang Y, Li L, Wang J, Liu X, Chen X, Zhang W, et al. A novel GATA4 loss-of-function mutation associated with congenital ventricular septal defect. Pediatr Cardiol. 2012;33:539-46 pubmed publisher
    ..The findings expand the mutational spectrum of GATA4 linked to VSD and provide more insight into the molecular mechanism of VSD. ..
  72. Wang Y, Chu Y, Xue H. Inositol polyphosphate 5-phosphatase-controlled Ins(1,4,5)P3/Ca2+ is crucial for maintaining pollen dormancy and regulating early germination of pollen. Development. 2012;139:2221-33 pubmed publisher
    ..The study reveals that independent of dehydration, the control of Ins(1,4,5)P(3)/Ca(2+) levels by Inositol polyphosphate 5-phosphatases is crucial for maintaining pollen dormancy. ..
  73. Ji H, Zhai Q, Zhu J, Yan M, Sun L, Liu X, et al. A novel protein MAJN binds to Jak3 and inhibits apoptosis induced by IL-2 deprival. Biochem Biophys Res Commun. 2000;270:267-71 pubmed
    ..Further studies are needed to elucidate how MAJN executes its function to antagonize BAF-B03beta cell death in the absence of IL-2. ..
  74. Cao C, Zhang Q, Wang Z, Wang Y, Wang Y, Wu H, et al. 1H NMR studies of the effect of mutation at Valine45 on heme microenvironment of cytochrome b5. Biochimie. 2003;85:1007-16 pubmed
    ..The relationships between the structure and biological function of the mutants are discussed in terms of the geometry of heme and axial ligands, the hydrophobicity of heme pocket and the electrostatic potential of the heme-exposed area. ..
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    ..These data contribute to information on spectrum of BRCA gene in Chinese population and also offer a recommended screening mode for clinical genetic testing programme in China. ..
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    ..These findings suggest that chronic drug-use-induced transcriptional activation of genes, such as CaMKIIalpha, modulated by H3 acetylation in the NAc is a critical regulatory mechanism underlying motivation for drug reinforcement. ..
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    ..The MQ-LCR technique established in this study is of low-cost, convenience, accuracy, high sensitivity and high specificity. It is suitable for large-scale detection and preventive diagnosis of mutations in deafness. ..
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    ..Therefore, our study represents the first functional characterization of the alternatively spliced AIRE mutation that may explain the pathogenetic role in APS-1. ..
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    ..Ultradeep sequencing can characterize intratumor heterogeneity and identify such mutations to ultimately affect treatment decisions. ..
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    ..Here, we determined the crystal structures of native TsaB and the VgrG3C-TsaB complex. VgrG3C adopts a canonical phage-T4-lysozyme-like fold. TsaB interacts with VgrG3C through molecular mimicry, and inserts into the VgrG3C pocket. ..
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    ..Genetic interactions between the key regulators during leaf patterning are discussed. ..
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    ..78; P < 0.001). The embB306 locus is a candidate marker for rapid detection of MDR and extremely drug resistant tuberculosis...
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    ..The method can thus be used for finding particular promoter sequences in the E. coli genome. ..
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    ..In summary, the functions of many human genes appear to be highly conserved, and the ability to identify them in Drosophila represents a powerful genetic tool for large-scale analysis of human transcripts in vivo. ..
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    ..2 g/L of succinic acid were produced from 15.6 g/L of glucose. Fed-batch culture was also performed, and the succinic acid concentration reached 31.9 g/L with a yield of 1.19 mol/mol glucose. ..
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    ..Azithromycin has been used to treat primary and secondary syphilis and as prophylaxis for sexual partners. We evaluated syphilis treatment failure in patients who received azithromycin therapy...
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    ..This work represents the first biochemical characterization of an O-carbamoyltransferase performing dual actions on both a polyketide backbone and a glycosyl moiety during ansamitocin biosynthesis. ..
  92. Zhang M, Liu Y, Sun S, Zhang H, Wang W, Ning G, et al. A prevalent and three novel mutations in CYP11B1 gene identified in Chinese patients with 11-beta hydroxylase deficiency. J Steroid Biochem Mol Biol. 2013;133:25-9 pubmed publisher
    ..The observations of a prevalent mutation and three novel mutations might have potential clinical utility for genetic counseling and prenatal diagnosis in Chinese 11?-OHD patients. ..