Experts and Doctors on mutation in Beijing, China


Locale: Beijing, China
Topic: mutation

Top Publications

  1. Jiang Y, Wan Y, Wang Z, Zhao B, Zhu J, Huang Y. [Germline E-cadherin gene mutation screening in familial gastric cancer kindreds]. Zhonghua Wai Ke Za Zhi. 2004;42:914-7 pubmed
    ..To evaluate the frequency and nature of E-cadherin gene (CDH1) germline mutations in familial gastric cancer kindreds of china...
  2. Yang Y, Wu Z, Kuo Y, Zhou B. Dietary rescue of fumble--a Drosophila model for pantothenate-kinase-associated neurodegeneration. J Inherit Metab Dis. 2005;28:1055-64 pubmed
    ..Our studies indicate that pantothenate is of limited value in alleviating fumble phenotypes and also suggest that some compounds might have deleterious effects. ..
  3. Wang J, Zhang Y, Liang J, Pan H, Wu H, Xu K, et al. CACNA1I is not associated with childhood absence epilepsy in the Chinese Han population. Pediatr Neurol. 2006;35:187-90 pubmed
    ..Thus, we do not consider the CACNA1I gene to be an important susceptibility gene for childhood absence epilepsy in the Chinese Han population. ..
  4. Liu W, Guo F, Lu B, Guo A. amnesiac regulates sleep onset and maintenance in Drosophila melanogaster. Biochem Biophys Res Commun. 2008;372:798-803 pubmed publisher
    ..Furthermore, age-related sleep fragmentation and initiation were inhibited in amn(X8) mutant flies. These data suggest that amn is required in initiation and maintenance of sleep. ..
  5. Xiao H, Yin L, Xu X, Li T, Han Z. The iron-regulated transporter, MbNRAMP1, isolated from Malus baccata is involved in Fe, Mn and Cd trafficking. Ann Bot. 2008;102:881-9 pubmed publisher
    ..MbNRAMP1 encodes a functional metal transporter capable of mediating the distribution of ions as well as transport of the micronutrients, Fe and Mn, and the toxic metal, Cd. ..
  6. Dai H, Zhang X, Zhao X, Deng T, Dong B, Wang J, et al. Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II. Mol Vis. 2008;14:2067-75 pubmed
    ..Mutations in the USH2A gene have been shown to be responsible for most cases of USH2. To further elucidate the role of USH2A in USH2, mutation screening was undertaken in three Chinese families with USH2...
  7. Wang J, Lu Y. Mitochondrial DNA 4977-bp deletion correlated with reactive oxygen species production and manganese superoxidedismutase expression in gastric tumor cells. Chin Med J (Engl). 2009;122:431-6 pubmed
    ..The decreased anti-oxidative ability, which leads to increased ROS contents, is correlated with the mtDNA damage during gastric carcinogenesis. ..
  8. Zhang Y, Xu S, Ding P, Wang D, Cheng Y, He J, et al. Control of salicylic acid synthesis and systemic acquired resistance by two members of a plant-specific family of transcription factors. Proc Natl Acad Sci U S A. 2010;107:18220-5 pubmed publisher
    ..Both proteins are recruited to the promoter of ICS1 in response to pathogen infections, suggesting that they control SA synthesis by regulating ICS1 at the transcriptional level. ..
  9. Liu J, Chen X, Xie Q, Zhang W, Wei L, Shen T, et al. Drug resistance and HCV coinfection in former blood donors infected with HIV type 1 in China. AIDS Res Hum Retroviruses. 2011;27:925-30 pubmed publisher
    ..These results suggest that improved adherence and treatment regimens will be critical to effectively treat HIV-1 and HCV-coinfected patients in resource-limited areas. ..

More Information

Publications588 found, 100 shown here

  1. Yuan Y, Yu F, Wang G, Huang S, Yu R, Zhang X, et al. Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2. J Transl Med. 2010;8:127 pubmed publisher
    ..Testing for the GJB2 IVS 1+1 G to A mutation explained deafness in 1.89% of Chinese GJB2 monoallelic patients, and it should be included in routine testing of patients with GJB2 monoallelic pathogenic mutation. ..
  2. Chen T, Wang J, Yang R, Li J, Lin M, Lin Z. Laboratory-evolved mutants of an exogenous global regulator, IrrE from Deinococcus radiodurans, enhance stress tolerances of Escherichia coli. PLoS ONE. 2011;6:e16228 pubmed publisher
    ..This new approach can be applied alone or in combination with other global methods, such as global transcriptional machinery engineering (gTME) for strain improvements. ..
  3. Wang K, Wang B, Zhang F, Zhao Y, Ma X, Zhu S. Novel beta-crystallin gene mutations in Chinese families with nuclear cataracts. Arch Ophthalmol. 2011;129:337-43 pubmed publisher
    ..This study helps expand the genotype of nuclear cataract and microcornea. ..
  4. Xu W, Dai H, Lu T, Zhang X, Dong B, Li Y. Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II. Mol Vis. 2011;17:1537-52 pubmed
    ..The results further support that mutations of USH2A are also responsible for non-syndromic RP. The mutation spectrum among Chinese patients might differ from that among European Caucasians. ..
  5. Yang X, Dong Y, Zhang X, Liang Y, Zhang Y, Meng Y, et al. [Significance of phosphoinositide 3 kinase/AKT pathway alterations in endometrial carcinoma]. Zhonghua Bing Li Xue Za Zhi. 2011;40:799-804 pubmed
    ..PIK3CA mutations at exon 9 or 20 may have different impact on the prognosis. The function of PTEN loss and p-AKT expression may vary according to different hormone status. ..
  6. Cao Q, Wang X, Liu C, Liu D, Li L, Gao Y, et al. Inhibitory mechanism of caspase-6 phosphorylation revealed by crystal structures, molecular dynamics simulations, and biochemical assays. J Biol Chem. 2012;287:15371-9 pubmed publisher
    ..These results disclosed the inhibition mechanism of CASP6 phosphorylation and laid the foundation for a new strategy of rational CASP6 drug design. ..
  7. Guo X, Liu C, Dai H, Guo Q. Mutations in the mitochondrial ATPase6 gene are frequent in human osteosarcoma. Exp Mol Pathol. 2013;94:285-8 pubmed publisher
    ..These data demonstrated that mtDNA mutations within the ATPase6 gene are a frequent event in Chinese patients with osteosarcoma. ..
  8. Zhang Y, Wang Z, Sun H. Meta-analysis of the influence of Parkin p.Asp394Asn variant on the susceptibility of Parkinson's disease. Neurosci Lett. 2012;524:60-4 pubmed publisher
    ..16-4.35). The OR for the heterozygote was 1.08 (95% CI=0.73-1.60) while the OR for the homozygote was 0.85 (95% CI=0.16-4.61). Concluding, our study does not support an association between the Parkin p.Asp394Asn variant and PD risk. ..
  9. Zhang Z, Zhang Q, Wu J, Zheng X, Zheng S, Sun X, et al. Gene knockout study reveals that cytosolic ascorbate peroxidase 2(OsAPX2) plays a critical role in growth and reproduction in rice under drought, salt and cold stresses. PLoS ONE. 2013;8:e57472 pubmed publisher
    ..Taken together, the cytosolic ascorbate peroxidase OsAPX2 plays an important role in rice growth and development by protecting the seedlings from abiotic stresses through scavenging reactive oxygen species. ..
  10. Miao C, Tang D, Zhang H, Wang M, Li Y, Tang S, et al. Central region component1, a novel synaptonemal complex component, is essential for meiotic recombination initiation in rice. Plant Cell. 2013;25:2998-3009 pubmed publisher
    ..We found that CRC1 is also essential for the recruitment of PAIR2 onto meiotic chromosomes. The roles of CRC1 identified here have not been reported for Pch2 or TRIP13. ..
  11. Wei Y, Diao L, Lu S, Wang H, Suo F, Dong M, et al. SUMO-Targeted DNA Translocase Rrp2 Protects the Genome from Top2-Induced DNA Damage. Mol Cell. 2017;66:581-596.e6 pubmed publisher
    ..The budding yeast homolog of Rrp2, Uls1, plays a similar role, indicating that this genome protection mechanism is widely employed, a finding with implications for cancer treatment. ..
  12. Chen J, Song G, Chen G. A lower specificity PhaC2 synthase from Pseudomonas stutzeri catalyses the production of copolyesters consisting of short-chain-length and medium-chain-length 3-hydroxyalkanoates. Antonie Van Leeuwenhoek. 2006;89:157-67 pubmed
    ..61-3. This study also indicated that the monomer composition and content of the synthesized PHA can be effectively modulated by controlling the addition of carbon sources or by modifying metabolic pathways in the hosts...
  13. Wang Y, Liu J, Xia R, Wang J, Shen J, Cao R, et al. The protein kinase TOUSLED is required for maintenance of transcriptional gene silencing in Arabidopsis. EMBO Rep. 2007;8:77-83 pubmed
    ..Our results provide direct evidence for a crucial role of the TOUSLED protein kinase in the maintenance of transcriptional gene silencing in some genomic regions in a DNA-methylation-independent manner in Arabidopsis. ..
  14. Qian W, Yu C, Qin H, Liu X, Zhang A, Johansen I, et al. Molecular and functional analysis of phosphomannomutase (PMM) from higher plants and genetic evidence for the involvement of PMM in ascorbic acid biosynthesis in Arabidopsis and Nicotiana benthamiana. Plant J. 2007;49:399-413 pubmed publisher
    ..Collectively, this study improves our understanding on the molecular and functional properties of plant PMM and provides genetic evidence on the involvement of PMM in the biosynthesis of AsA in Arabidopsis and N. benthamiana plants...
  15. Wu B, Liu Y, Zhao Q, Liao S, Zhang J, Bartlam M, et al. Crystal structure of RS21-C6, involved in nucleoside triphosphate pyrophosphohydrolysis. J Mol Biol. 2007;367:1405-12 pubmed
    ..Tetramer formation is shown to be required for substrate binding. ..
  16. Li F, Wang S, Gao C, Liu S, Zhao B, Zhang M, et al. Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts. Mol Vis. 2008;14:378-86 pubmed
    ..This is the first reported case of a congenital coralliform cataract phenotype associated with the mutation of Gly61Cys (P.G61C) in the CRYGD gene; it demonstrates a possible mechanism of action for the mutant gene. ..
  17. Yan Y, Scott D, Wilkinson T, Ji J, Tregear G, Bathgate R. Identification of the N-linked glycosylation sites of the human relaxin receptor and effect of glycosylation on receptor function. Biochemistry. 2008;47:6953-68 pubmed publisher
    ..Additionally, it is likely that glycosylation is also essential for the conformational changes required for G-protein coupling and subsequent cAMP signaling. ..
  18. Du J, Zhang Q, Tao X, Li H, Liang G, Tang Q. [Characterization of RdRp gene of rabies virus in China]. Zhonghua Shi Yan He Lin Chuang Bing Du Xue Za Zhi. 2008;22:171-3 pubmed
    ..The characterization of complete L genes will be helpful for research on new functional regions, antiviral drugs targeted at RdRp and phylogenetic analyses. ..
  19. Liang W, Li C, Liu F, Jiang H, Li S, Sun J, et al. The Arabidopsis homologs of CCR4-associated factor 1 show mRNA deadenylation activity and play a role in plant defence responses. Cell Res. 2009;19:307-16 pubmed publisher
    ..Our results suggest roles of the AtCAF1 proteins in regulated mRNA deadenylation and defence responses to pathogen infections. ..
  20. Song Q, Sun K, Shuai Y, Lin R, You W, Wang L, et al. Suppressor of Hairless is required for long-term memory formation in Drosophila. J Neurogenet. 2009;23:405-11 pubmed publisher
    ..Our data clearly demonstrate that transcriptional activity of Su(H) in Notch signaling in the mushroom bodies is critical for the formation of long-term memory. ..
  21. Chen B, Cai Z, Wu W, Huang Y, Pleiss J, Lin Z. Morphing activity between structurally similar enzymes: from heme-free bromoperoxidase to lipase. Biochemistry. 2009;48:11496-504 pubmed publisher
    ..The design strategy used in this study could serve as a useful approach for constructing variants with targeted catalytic properties using the alpha/beta-hydrolase fold. ..
  22. Liu Z, Huang Y, Zhang Y, Chen D, Zhang Y. Drosophila Acyl-CoA synthetase long-chain family member 4 regulates axonal transport of synaptic vesicles and is required for synaptic development and transmission. J Neurosci. 2011;31:2052-63 pubmed publisher
    ..Defects in axonal transport and synaptic function may account, at least in part, for the pathogenesis of ACSL4-related mental retardation. ..
  23. Qin L, Zhong W, Zhang L, Li L, Wang M. Comparison of three methods for detecting epidermal growth factor receptor mutations in plasma DNA samples of Chinese patients with advanced non-small cell lung cancer. Chin Med J (Engl). 2011;124:887-91 pubmed
    ..DHPLC is slightly less sensitive than Scorpion ARMS. EGFR mutations in exons 19 (deletion mutation) and 21 (L858R mutation) predict a longer PFS. ..
  24. Guo W, Chen Y, Zhou X, Kar A, Ray P, Chen X, et al. An ALS-associated mutation affecting TDP-43 enhances protein aggregation, fibril formation and neurotoxicity. Nat Struct Mol Biol. 2011;18:822-30 pubmed publisher
  25. Yang H, Han Z, Cao Y, Fan D, Li H, Mo H, et al. A companion cell-dominant and developmentally regulated H3K4 demethylase controls flowering time in Arabidopsis via the repression of FLC expression. PLoS Genet. 2012;8:e1002664 pubmed publisher
  26. Sui L, Pflugfelder G, Shen J. The Dorsocross T-box transcription factors promote tissue morphogenesis in the Drosophila wing imaginal disc. Development. 2012;139:2773-82 pubmed publisher
    ..In these folds, integrins and extracellular matrix proteins were depleted. Overexpression of Doc along the blade/hinge folds caused precocious wing disc bending, which could be suppressed by co-expressing MMP2RNAi. ..
  27. Jiang S, Yang Z, Li W, Li X, Wang Y, Zhang J, et al. Re-evaluation of the carcinogenic significance of hepatitis B virus integration in hepatocarcinogenesis. PLoS ONE. 2012;7:e40363 pubmed publisher
    ..The frequency and patterns of HBV insertions were similar between tumor and their adjacent non-tumor samples indicating that the majority of HBV DNA integration events are not associated with hepatocarcinogenesis...
  28. Tian C, Liu D, Chen C, Xu Y, Gong H, Chen C, et al. Global transcriptional profiling of the postmortem brain of a patient with G114V genetic Creutzfeldt-Jakob disease. Int J Mol Med. 2013;31:676-88 pubmed publisher
    ..The data of the present study provide useful insights into the pathogenesis of G114V gCJD and potential biomarkers for diagnostic and therapeutic purposes. ..
  29. Chen J, Fu R, Cui Y, Li Y, Pan J, Liu J, et al. LIM-homeodomain transcription factor Isl-1 mediates the effect of leptin on insulin secretion in mice. J Biol Chem. 2013;288:12395-405 pubmed publisher
    ..These findings are crucial for understanding the mechanisms regulating insulin secretion and metabolism in related diseases, such as obesity and type 2 diabetes. ..
  30. Wu T, Liu Y, Li X, Wang Q, DING Y, Ma Y, et al. Five novel mutations in ARG1 gene in Chinese patients of argininemia. Pediatr Neurol. 2013;49:119-23 pubmed publisher
    ..The clinical manifestations in patients are similar to cerebral palsy so the diagnosis is usually much delayed. Reports of argininemia from mainland China are few, and genetic analyses have not been reported...
  31. Cheng Z, Yi P, Wang X, Chai Y, Feng G, Yang Y, et al. Conditional targeted genome editing using somatically expressed TALENs in C. elegans. Nat Biotechnol. 2013;31:934-7 pubmed publisher
    ..Our results show that TALENs expressed in the somatic cells of model organisms provide a versatile tool for functional genomics. ..
  32. Zhang H, Li D, Zhao L, Fleming J, Lin N, Wang T, et al. Genome sequencing of 161 Mycobacterium tuberculosis isolates from China identifies genes and intergenic regions associated with drug resistance. Nat Genet. 2013;45:1255-60 pubmed publisher
    ..Our work indicates that the genetic basis of drug resistance is more complex than previously anticipated and provides a strong foundation for elucidating unknown drug resistance mechanisms. ..
  33. Shi W, Chen X, Wang L, Gong Z, Li S, Li C, et al. Cellular and molecular insight into the inhibition of primary root growth of Arabidopsis induced by peptaibols, a class of linear peptide antibiotics mainly produced by Trichoderma spp. J Exp Bot. 2016;67:2191-205 pubmed publisher
    ..The cellular and molecular insight into the peptaibol-induced inhibition of plant root growth advances our understanding of Trichoderma-plant interactions. ..
  34. Zhao M, Jia W, Jiang W, Wang P, DU G, Cheng S, et al. ADAM29 Expression in Human Breast Cancer and its Effects on Breast Cancer Cells In Vitro. Anticancer Res. 2016;36:1251-8 pubmed
    ..ADAM29 may represent a prognostic factor in human breast cancer, as well as a novel molecular candidate to be used as a therapeutic target. ..
  35. Pan H, Wang Y, Bao X, Meng H, Zhang Y, Wu X, et al. MECP2 gene mutation analysis in Chinese patients with Rett syndrome. Eur J Hum Genet. 2002;10:484-6 pubmed
    ..A novel missense variant was detected in the C-terminal region in a patient and her father who was normal. In addition, there was a single nucleotide variant in the 3'UTR. ..
  36. Yu J, Zou L, He J, Liu N, Zhang W, Lu L, et al. [Analysis of mutation of BIGH3 gene in Chinese patients with corneal dystrophies]. Zhonghua Yan Ke Za Zhi. 2003;39:582-6 pubmed
    ..To study whether Chinese patients with various corneal dystrophy carry mutations in BIGH3 gene...
  37. Xiao D, Wang C, Du M, Pang B, Zhang H, Xiao B, et al. Relationship between polymorphisms of genes encoding microsomal epoxide hydrolase and glutathione S-transferase P1 and chronic obstructive pulmonary disease. Chin Med J (Engl). 2004;117:661-7 pubmed
    ..The interaction might exist between mEH genotype and smoke. The gene polymorphism for GSTP1 might not be associated with susceptibility to COPD in the Chinese population. ..
  38. Lu X, Jiang X, Lu Y, Bai J, Mao Z. Characterization of a novel positive transcription regulatory element that differentially regulates the insulin-like growth factor binding protein-3 (IGFBP-3) gene in senescent cells. J Biol Chem. 2005;280:22606-15 pubmed
    ..These results point to the IEE as being a positive transcription regulatory element that contributes to the up-regulation of IGFBP-3 during cellular senescence. ..
  39. Zhuang T, Qiu Z, Wei M, Huang S. [Mutation analysis of glycogen debrancher enzyme gene in five Chinese patients with glycogen storage disease type III]. Zhonghua Er Ke Za Zhi. 2005;43:85-8 pubmed
    ..GSD-III patients have variable phenotypic characteristics. Administration of raw-corn-starch can effectively improve the disease outcome. We identified 8 new mutations on AGL gene through nucleotide sequence analysis. ..
  40. Pan H, Xiong H, Wu Y, Zhang Y, Bao X, Jiang Y, et al. ABCD1 gene mutations in Chinese patients with X-linked adrenoleukodystrophy. Pediatr Neurol. 2005;33:114-20 pubmed
    ..However, over half of the mutations (19/34) were located in exon 1 and exon 6, suggesting possible hot exons. No obvious relationship between genotype and phenotype was observed...
  41. Zhang Y, Ma Y, Qi S, Meng B, Chaudhry M, Liu S, et al. Responses to arsenate stress by Comamonas sp. strain CNB-1 at genetic and proteomic levels. Microbiology. 2007;153:3713-21 pubmed
    ..Of these spots, 18 were unique proteins. These proteins were identified to be phosphate transporters, heat-shock proteins involved in protein refolding, and enzymes participating in carbon and energy metabolism...
  42. Qin W, Jia J. Down-regulation of insulin-degrading enzyme by presenilin 1 V97L mutant potentially underlies increased levels of amyloid beta 42. Eur J Neurosci. 2008;27:2425-32 pubmed publisher
    ..Our findings provide evidence for the molecular basis of familial Alzheimer's disease pathogenesis. ..
  43. Sun J, Ma L, Yu X, Huang Y, Yuan L, Shao Y. Replication and drug resistant mutation of HIV-1 subtype B' (Thailand B) variants isolated from HAART treatment individuals in China. Virol J. 2009;6:201 pubmed publisher
    ..These data suggested that the drug resistant level could not reduce in vitro in absence of antiretroviral drugs in few weeks. And maybe helpful for these HAART experienced individuals when change antiretroviral drugs. ..
  44. Zhao X, Yang C, Tong Y, Zhang X, Xu L, Li Y. Identification a novel MYOC gene mutation in a Chinese family with juvenile-onset open angle glaucoma. Mol Vis. 2010;16:1728-35 pubmed
    ..To describe the clinical and genetic findings in one Chinese family with juvenile-onset open angle glaucoma (JOAG)...
  45. Luo Y, Qin G, Zhang J, Liang Y, Song Y, Zhao M, et al. D-myo-inositol-3-phosphate affects phosphatidylinositol-mediated endomembrane function in Arabidopsis and is essential for auxin-regulated embryogenesis. Plant Cell. 2011;23:1352-72 pubmed publisher
    ..We conclude that myo-inositol serves as the main substrate for synthesizing PtdIns and phosphatidylinositides, which are essential for endomembrane structure and trafficking and thus for auxin-regulated embryogenesis...
  46. Jiang W, Sun T, Lei P, Zhu X. Genotype-phenotype correlation in Chinese patients with dystrophic epidermolysis bullosa pruriginosa. Acta Derm Venereol. 2012;92:50-3 pubmed publisher
  47. Zhou M, Gao L, Jing Y, Xu Y, Ding Y, Wang N, et al. Detection of ETV6 gene rearrangements in adult acute lymphoblastic leukemia. Ann Hematol. 2012;91:1235-43 pubmed publisher
  48. Ji S, Hao J, Li L, Zhang J, Zheng Q, Li X, et al. Expression of inhibin-alpha is regulated synergistically by Wilms' tumor gene 1 (Wt1) and steroidogenic factor-1 (Sf1) in sertoli cells. PLoS ONE. 2013;8:e53140 pubmed publisher
  49. Liu H, Jiang Y, Dou X, Wang H, Zhao X, Zhang W, et al. pstS1 polymorphisms of Mycobacterium tuberculosis strains may reflect ongoing immune evasion. Tuberculosis (Edinb). 2013;93:475-81 pubmed publisher
    ..A unique single nucleotide polymorphism of the M. bovis and BCG strains was found in this antigen and may be useful for differentiating M. bovis and BCG strains from M. tuberculosis strains. ..
  50. Zhou H, Zhang F, Ma Z, Huang H, Jiang L, Cai T, et al. Folate polyglutamylation is involved in chromatin silencing by maintaining global DNA methylation and histone H3K9 dimethylation in Arabidopsis. Plant Cell. 2013;25:2545-59 pubmed publisher
    ..Our study makes an important contribution to understanding the complex interplay among metabolism, development, and epigenetic regulation. ..
  51. Yao T, Jin D, Liu Q, Gong Z. Abscisic acid suppresses the highly occurred somatic homologous recombination in Arabidopsis rfc1 mutant. J Genet Genomics. 2013;40:465-71 pubmed publisher
    ..However, ABA treatment greatly reduces HR and also reduces the expression of the DNA-damaged marker genes in rfc1. These results suggest that RFC1 plays critical roles in ABA-mediated HR in Arabidopsis. ..
  52. Qu S, Liu L, Gan S, Feng H, Zhao J, Zhao J, et al. Detection of low-level DNA mutation by ARMS-blocker-Tm PCR. Clin Biochem. 2016;49:287-91 pubmed publisher
    ..Our results indicated that this new assay is a highly selective, convenient, and economical method for detecting rare mutations in the presence of higher concentrations of wild-type DNA. ..
  53. Kang L, Zheng J, Zhu X. [Relationship between EGFR Mutations and Pathological Classification and 
Specimen of Lung Adenocarcinoma]. Zhongguo Fei Ai Za Zhi. 2017;20:382-388 pubmed publisher
  54. Pan H, Xiong H, Zhang Y, Wu Y, Bao X, Jiang Y, et al. [X-linked adrenoleukodystrophy ABCD1 gene mutation analysis in China]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004;21:1-4 pubmed
    ..To investigate mutations of ABCD1 gene in X- linked adrenoleukodystrophy (ALD) patients in China...
  55. He H, Feng S, Pang M, Zhou H, Yan Y. Role of the linker between the N- and C-terminal domains in the stability and folding of rabbit muscle creatine kinase. Int J Biochem Cell Biol. 2007;39:1816-27 pubmed publisher
    ..The results herein indicated that in addition to its role in the in vivo functions, the linker also played a crucial role in the stability and folding of CK...
  56. Huang X, Qian Q, Liu Z, Sun H, He S, Luo D, et al. Natural variation at the DEP1 locus enhances grain yield in rice. Nat Genet. 2009;41:494-7 pubmed publisher
    ..We also show that a functionally equivalent allele is present in the temperate cereals and seems to have arisen before the divergence of the wheat and barley lineages...
  57. Yuan Y, Dai P, Zhu Q, Kang D, Huang D. [Sequencing analysis of whole SLC26A4 gene related to IVS7-2A > G mutation in 1552 moderate to profound sensorineural hearing loss patients in China]. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2009;44:449-54 pubmed
    ..The discovery of novel variants of SLC26A4 gene makes the mutational and polymorphic spectrum more plentiful in Chinese population. We also provide preliminary evidence for the hot spot areas of SLC26A4. ..
  58. Tian Y, Li Z, Hu W, Ren H, Tian E, Zhao Y, et al. C. elegans screen identifies autophagy genes specific to multicellular organisms. Cell. 2010;141:1042-55 pubmed publisher
    ..This study establishes C. elegans as a multicellular genetic model to delineate the autophagy pathway and provides mechanistic insights into the metazoan-specific autophagic process. ..
  59. Xiong G, Li R, Qian Q, Song X, Liu X, Yu Y, et al. The rice dynamin-related protein DRP2B mediates membrane trafficking, and thereby plays a critical role in secondary cell wall cellulose biosynthesis. Plant J. 2010;64:56-70 pubmed publisher
    ..Mutation of OsDRP2B disturbs the membrane trafficking that is essential for normal cellulose biosynthesis of the secondary cell wall, thereby leading to inferior mechanical properties in rice plants. ..
  60. Jia L, Li X, Yu W, Zeng W, Liang C. Novel frizzled-4 gene mutations in chinese patients with familial exudative vitreoretinopathy. Arch Ophthalmol. 2010;128:1341-9 pubmed publisher
    ..The profile of the mutations obtained in FZD4 further illustrates the complexity of FEVR and provides a better understanding of the genotype-phenotype correlations. ..
  61. Wang Z, Meng P, Zhang X, Ren D, Yang S. BON1 interacts with the protein kinases BIR1 and BAK1 in modulation of temperature-dependent plant growth and cell death in Arabidopsis. Plant J. 2011;67:1081-93 pubmed publisher
    ..Our findings suggest that BIR1 functions as a negative regulator of plant resistance and that BON1 and BIR1 might modulate both PAMP- and R protein-triggered immune responses. ..
  62. Liu J, Wu Q, He D, Ma T, Du L, Dui W, et al. Drosophila sbo regulates lifespan through its function in the synthesis of coenzyme Q in vivo. J Genet Genomics. 2011;38:225-34 pubmed publisher
    ..Taken together, we conclude that sbo is an essential gene for Drosophila development, mutation of which leads to an extension of lifespan most likely by altering endogenous CoQ biosynthesis. ..
  63. Song X, Li P, Zhai J, Zhou M, Ma L, Liu B, et al. Roles of DCL4 and DCL3b in rice phased small RNA biogenesis. Plant J. 2012;69:462-74 pubmed publisher
    ..Our results revealed significant roles of OsDCL4, OsDCL3b and OsDCL1 in the 21- and 24-nucleotide phased small RNA biogenesis pathway in rice. ..
  64. Jiang L, Wang S, Li H, Zhang G, Li H. EMBRYONIC FACTOR 31 encodes a tyrosyl-tRNA synthetase that is essential for seed development. Mol Biol Rep. 2012;39:8297-305 pubmed publisher
    ..Our findings suggest that FAC31 is essential for the seed development through regulation the expanding of embryo sac and proliferation of endosperm nucleolus. ..
  65. Su H, Zhu J, Cai C, Pei W, Wang J, Dong H, et al. FIMBRIN1 is involved in lily pollen tube growth by stabilizing the actin fringe. Plant Cell. 2012;24:4539-54 pubmed publisher
    ..Thus, our study has identified a fimbrin that may stabilize the actin fringe by cross-linking actin filaments into bundles, which is important for proper tip growth of lily pollen tubes. ..
  66. Dong Z, Jiang C, Chen X, Zhang T, Ding L, Song W, et al. Maize LAZY1 mediates shoot gravitropism and inflorescence development through regulating auxin transport, auxin signaling, and light response. Plant Physiol. 2013;163:1306-22 pubmed publisher
    ..Therefore, ZmLA1 might mediate the cross talk between shoot gravitropism and inflorescence development by regulating auxin transport, auxin signaling, and probably light response in maize...
  67. Kang X, Song C, Du X, Zhang C, Liu Y, Liang L, et al. PTEN stabilizes TOP2A and regulates the DNA decatenation. Sci Rep. 2015;5:17873 pubmed publisher
    ..We propose that PTEN controls DNA decatenation to maintain genomic stability and integrity. ..
  68. Duan X, Li Y, Du Q, Huang Q, Guo S, Xu M, et al. Mycobacterium Lysine ?-aminotransferase is a novel alarmone metabolism related persister gene via dysregulating the intracellular amino acid level. Sci Rep. 2016;6:19695 pubmed publisher
    ..In summary, our study firstly reported the involvement of mycobacterium LAT in persister formation, and possibly through altering the intracellular amino acid metabolism balance. ..
  69. Han X, Xu R, Duan P, Yu H, Luo Y, Li Y. Genetic analysis and identification of candidate genes for two spotted-leaf mutants (spl101 and spl102) in rice. Yi Chuan. 2017;39:346-353 pubmed publisher
    ..In addition, our results also validate the effectiveness of the Mutmap method in cloning the candidate mutations. ..
  70. Shi C, Guo Y, Lyu Y, Nanding Z, Gao W, Shi T, et al. [Clinical pathological characteristics of resectable papillary thyroid microcarcinoma]. Zhonghua Zhong Liu Za Zhi. 2017;39:361-366 pubmed publisher
    ..05)???????ptmc???????1.6%(2/122)??ptc???????4.9%(4/82)? ??? ???????????braf v600e?????ptmc???????????????ptmc???????ptc????????????braf v600e?????ptmc???????????????braf v600e????????????ptmc????????????????????????????. ..
  71. Liang Z, Cheng Y, Chen Y, Hu Y, Liu W, Lu Y, et al. EGFR T790M ctDNA testing platforms and their role as companion diagnostics: Correlation with clinical outcomes to EGFR-TKIs. Cancer Lett. 2017;403:186-194 pubmed publisher
    ..Managing these outcomes with appropriate companion diagnostics using ctDNA in early detection of these genetic alterations will improve patient care. ..
  72. Peng X, Jiang L, Chen C, Qin Y, Yuan T, Wang O, et al. Increased urinary prostaglandin E2 metabolite: A potential therapeutic target of Gitelman syndrome. PLoS ONE. 2017;12:e0180811 pubmed publisher
    ..Higher urinary PGEM levels indicated more severe clinical manifestations and NCC dysfunction in GS patients. COX2 inhibition might be a potential therapeutic target in GS patients with elevated PGEM levels. ..
  73. Su Z, Chai M, Lu P, An R, Chen J, Wang X. AtMTM1, a novel mitochondrial protein, may be involved in activation of the manganese-containing superoxide dismutase in Arabidopsis. Planta. 2007;226:1031-9 pubmed
    ..Our results suggest that AtMTM1 encodes a mitochondrial protein that may be playing an important role in activation of MnSOD1 in Arabidopsis. ..
  74. Yuan Y, Wu J, Sun R, Zhang X, Xu D, Bonnema G, et al. A naturally occurring splicing site mutation in the Brassica rapa FLC1 gene is associated with variation in flowering time. J Exp Bot. 2009;60:1299-308 pubmed publisher
    ..rapa accessions and in a segregating Chinese cabbage doubled-haploid population. These findings suggest that a naturally occurring splicing mutation in the BrFLC1 gene contributes greatly to flowering-time variation in B. rapa. ..
  75. Shi Q, Zhang B, Gao C, Han J, Wang G, Chen C, et al. The diversities of PrP(Sc) distributions and pathologic changes in various brain regions from a Chinese patient with G114V genetic CJD. Neuropathology. 2012;32:51-9 pubmed publisher
    ..The data here provide the pathogenic and neuropathological features of G114V gCJD. ..
  76. Zheng J, Chen F, Wang Z, Cao H, Li X, Deng X, et al. A novel role for histone methyltransferase KYP/SUVH4 in the control of Arabidopsis primary seed dormancy. New Phytol. 2012;193:605-16 pubmed publisher
    ..Genetic analysis showed that DOG1 and HUB1 are epistatic to KYP/SUVH4, suggesting that these genes regulate seed dormancy in the same genetic pathway. ..
  77. Liu W, Sun Y, Chen W, Liu W, Wan Z, Bu D, et al. The T788G mutation in the cyp51C gene confers voriconazole resistance in Aspergillus flavus causing aspergillosis. Antimicrob Agents Chemother. 2012;56:2598-603 pubmed publisher
    ..Further comprehensive surveillance for antifungal susceptibility, as well as intensive study on the mechanism of azole resistance in A. flavus causing IA, would be required to fully understand this mechanism. ..
  78. Su N, Hu M, Wu D, Wu F, Fei G, Lan Y, et al. Disruption of a rice pentatricopeptide repeat protein causes a seedling-specific albino phenotype and its utilization to enhance seed purity in hybrid rice production. Plant Physiol. 2012;159:227-38 pubmed publisher
    ..We further demonstrated that ysa can be used as an early marker for efficient identification and elimination of false hybrids in commercial hybrid rice production, resulting in yield increases by up to approximately 537 kg ha(-1). ..
  79. Xiong Y, Zhao K, Wu J, Xu Z, Jin S, Zhang Y. HDAC6 mutations rescue human tau-induced microtubule defects in Drosophila. Proc Natl Acad Sci U S A. 2013;110:4604-9 pubmed publisher
    ..These findings reveal HDAC6 as a unique potential drug target for AD and related tauopathies. ..
  80. Sun Q, Xie S, Feng L, Wang Y, Xu J, Qiu C, et al. [Audiological and vestibular evaluation of new coagulation factor C homology mutation carriers in a Chinese family]. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2007;42:594-8 pubmed
    ..There is a genotype-phenotype correlation in DFNA9. ..
  81. Song S, Ge Q, Wang J, Chen H, Tang S, Bi J, et al. TRIM-9 functions in the UNC-6/UNC-40 pathway to regulate ventral guidance. J Genet Genomics. 2011;38:1-11 pubmed publisher
    ..Over-expression of the Netrin/UNC-6 receptor Frazzled suppresses the guidance defects in trim-9 mutants. Our study reveals an evolutionarily conserved function of TRIM-9 in the UNC-40/Frazzled-mediated UNC-6/Netrin attraction pathway. ..
  82. Zhang Z, Liu J, Xi Y, Yang R, Chen H, Li Z, et al. Two novel cis-elements involved in hepatocyte nuclear factor 4? regulation of acyl-coenzyme A:cholesterol acyltransferase 2 expression. Acta Biochim Biophys Sin (Shanghai). 2012;44:162-71 pubmed publisher
    ..These results provide more insights into transcriptional regulation of ACAT2 expression. ..
  83. Wang B, Xu B, Cheng Z, Zhou X, Wang J, Yang G, et al. A novel non-synonymous mutation in the homeodomain of HOXD13 causes synpolydactyly in a Chinese family. Clin Chim Acta. 2012;413:1049-52 pubmed publisher
    ..And the mutation affected the transcriptional activation ability of HOXD13. This finding expands the phenotypic spectrum associated with HOXD13 mutations and advances our understanding of human limb development. ..
  84. Pan Z, Lu T, Zhang X, Dai H, Yan W, Bai F, et al. Identification of two mutations of the RHO gene in two Chinese families with retinitis pigmentosa: correlation between genotype and phenotype. Mol Vis. 2012;18:3013-20 pubmed
    ..Two mutations of the RHO gene were identified in two Chinese families with adRP. Our findings further suggest codon 347 is the mutation hotspot of the RHO. ..
  85. Shi Y, Wang Z, Meng P, Tian S, Zhang X, Yang S. The glutamate carboxypeptidase AMP1 mediates abscisic acid and abiotic stress responses in Arabidopsis. New Phytol. 2013;199:135-50 pubmed publisher
    ..This study suggests that AMP1 modulates ABA, oxidative and abotic stress responses, and is involved in carbon and amino acid metabolism in Arabidopsis. ..
  86. Cui X, Lu F, Li Y, Xue Y, Kang Y, Zhang S, et al. Ubiquitin-specific proteases UBP12 and UBP13 act in circadian clock and photoperiodic flowering regulation in Arabidopsis. Plant Physiol. 2013;162:897-906 pubmed publisher
    ..Therefore, our work reveals a role for two deubiquitinases, UBP12 and UBP13, in the control of the circadian clock and photoperiodic flowering, which extends our understanding of ubiquitin in daylength measurement in higher plants. ..
  87. Qin L, Zhu Y, Ding Z, Zhang X, Ye S, Zhang R. Structure of iridoid synthase in complex with NADP(+)/8-oxogeranial reveals the structural basis of its substrate specificity. J Struct Biol. 2016;194:224-30 pubmed publisher
    ..We believe that the present work will help to elucidate the substrate specificity of IS and to integrate its detailed catalytic mechanism. ..
  88. Yang C, Yin L, Zhou P, Liu X, Yang M, Yang F, et al. Transcriptional regulation of IER5 in response to radiation in HepG2. Cancer Gene Ther. 2016;23:61-5 pubmed publisher
    ..Together, we propose the GCF regulated transcriptional activity, at least in part, contributed to the upregulation of IER5 on radiation. The present findings provide insights into understanding the regulatory mechanisms of IER5. ..
  89. Kong D, Zhu Y, Wu H, Cheng X, Liang H, Ling H. AtTHIC, a gene involved in thiamine biosynthesis in Arabidopsis thaliana. Cell Res. 2008;18:566-76 pubmed publisher
    ..In conclusion, AtTHIC is a gene involved in pyrimidine synthesis in the thiamine biosynthesis pathway of Arabidopsis, and our results provide some new clues for elucidating the pathway of thiamine biosynthesis in plants. ..
  90. Wang Q, Zhao C, Bai L, Deng X, Wu C. Reduction of drosopterin content caused by a 45-nt insertion in Henna pre-mRNA of Drosophila melanogaster. Sci China C Life Sci. 2008;51:702-10 pubmed publisher
  91. Li Y, Deng T, Tong Y, Peng S, Dong B, He D. Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy. Mol Vis. 2008;14:2451-7 pubmed
    ..A novel heterozygous nonsense mutation c.2197C>T(p.R733X)was detected in family F2. Our findings expand the spectrum of OPA1 mutations and further established the role of OPA1 gene in Chinese patients with ADOA. ..
  92. Zhou C, Rao Y, Rao Y. A subset of octopaminergic neurons are important for Drosophila aggression. Nat Neurosci. 2008;11:1059-67 pubmed publisher
    ..We carried out genetic rescue experiments that revealed the functional importance of neuronal octopamine and identified a small subset of octopaminergic neurons in the suboesophageal ganglion as being important for aggression. ..