Experts and Doctors on mutation in Jinan, Shandong Sheng, China


Locale: Jinan, Shandong Sheng, China
Topic: mutation

Top Publications

  1. Chen C, Cao Y, Hu W. Apolipoprotein C-II promoter T-->A substitution at position -190 affects on the transcription of the gene and its relationship to hyperlipemia. Biochem Biophys Res Commun. 2007;354:62-5 pubmed
    ..These results suggested that T-->A substitution at position -190 in the apoC-II gene promoter only partly affected transcriptional activity of the apoC-II promoter, leading to decrease of apoC-II expression in quantity. ..
  2. Qin Y, Zhao H, Kovanci E, Simpson J, Chen Z, Rajkovic A. Mutation analysis of NANOS3 in 80 Chinese and 88 Caucasian women with premature ovarian failure. Fertil Steril. 2007;88:1465-7 pubmed
    ..No additional single-nucleotide polymorphisms or mutations were found in exons encoding for NANOS3. Our findings suggest that mutations in NANOS3 exons are rare in both Chinese and Caucasian women with premature ovarian failure. ..
  3. Lyu Y, Huang J, Zhang K, Liu G, Gao M, Gai Z, et al. [Diagnosis of a case with oculocutaneous albinism type ? with next generation exome capture sequencing]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017;34:73-77 pubmed publisher
    ..T405N) and c.1333dupG, which were inherited from his mother and father, respectively. Neither mutation was reported previously. The child has suffered from oculocutaneous albinism type ? caused by mutations of the TYRP1 gene. ..
  4. Xu B, Sun Z, Liu Z, Guo H, Liu Q, Jiang H, et al. Replication stress induces micronuclei comprising of aggregated DNA double-strand breaks. PLoS ONE. 2011;6:e18618 pubmed publisher
    ..Classification of MN according to their ?-H2AX status may provide a more refined evaluation of intrinsic genomic instabilities and the various environmental genotoxicants. ..
  5. Tang N, Guo J, Zhang Q, Wang Y, Wang Z. Greater efficacy of chemotherapy plus bevacizumab compared to chemo- and targeted therapy alone on non-small cell lung cancer patients with brain metastasis. Oncotarget. 2016;7:3635-44 pubmed publisher
    ..For patients with EGFR wild-type, chemotherapy plus bevacizumab did improve PFS and OS. Furthermore, regimens including pemetrexed led to a greater RR. ..
  6. Jiang L, Song L, Wang H, Wang J, Wang P, Zhou H, et al. Identification and functional characterization of a novel mutation P459H and a rare mutation R483W in the CYP21A2 gene in two Chinese patients with simple virilizing form of congenital adrenal hyperplasia. J Endocrinol Invest. 2012;35:485-9 pubmed publisher
    ..Clinically, 21-OHD is categorized into saltwasting, simple-virilizing (SV), and non-classical (NC) forms. It is well recognized that a good correlation exists between genotype and clinical phenotype of CAH...
  7. Su J, Wang Q, Feng J, Zhang C, Zhu D, Wei T, et al. Engineered Thermoplasma acidophilum factor F3 mimics human aminopeptidase N (APN) as a target for anticancer drug development. Bioorg Med Chem. 2011;19:2991-6 pubmed publisher
    ..coli APN as the target model. We do propose here now that engineered factor F3 can be employed as a reasonable alternative of hAPN for drug design and development. ..
  8. Xu C, Wang L, Wu X, Zhao J, Du Y, Jiang C. [Study on the association of thrombin activatable fibrinolysis inhibitor and the Thr325Ile and Thr147Ala polymorphisms of its encoding gene CPB2 in patients with coronary heart disease]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008;25:438-42 pubmed
    ..The Thr325Ile polymorphism had obvious effect on TAFI antigen levels, but the Thr325Ile and Thr147Ala polymorphism had no association with coronary heart disease. ..
  9. 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. ..

More Information


  1. Qu X, Wang K, Dong W, Shen H, Wang Y, Liu Q, et al. Association between two CHRNA3 variants and susceptibility of lung cancer: a meta-analysis. Sci Rep. 2016;6:20149 pubmed publisher
    ..Moreover, smoking status might contribute to part of heterogeneity under allele model. In summary, this meta-analysis suggested both rs578776 and rs938682 were significantly associated with the susceptibility of lung cancer. ..
  2. Li B, Li N, Wang F, Guo L, Huang Y, Liu X, et al. Structural insight of a concentration-dependent mechanism by which YdiV inhibits Escherichia coli flagellum biogenesis and motility. Nucleic Acids Res. 2012;40:11073-85 pubmed publisher
    ..Consequently, the ring-like structure opened up, and the complex lost DNA-binding ability. Thus, YdiV inhibits FlhD(4)C(2) only at relatively high concentrations. ..
  3. Zhong L, Chen W, Ji X, Zhang M, Zhao Y, Yao G, et al. Dominant-negative mutation of monocyte chemoattractant protein-1 prevents vulnerable plaques from rupture in rabbits independent of serum lipid levels. J Cell Mol Med. 2008;12:2362-71 pubmed publisher
    ..These therapeutic effects are independent of serum lipid levels and demonstrate that inhibition of plaque inflammation alone without lipid lowering can stabilize vulnerable plaques. ..
  4. Qin Y, Wei X, Song X, Qu Y. Engineering endoglucanase II from Trichoderma reesei to improve the catalytic efficiency at a higher pH optimum. J Biotechnol. 2008;135:190-5 pubmed publisher
    ..More stable helixes and changed electrostatic interactions between the catalytic residues and substrates may explain the higher activities and higher pH optima of the variants. ..
  5. Wei T, Zhang S, Hou L, Ni J, Sheng D, Shen Y. The carboxyl terminal of the archaeal nuclease NurA is involved in the interaction with single-stranded DNA-binding protein and dimer formation. Extremophiles. 2011;15:227-34 pubmed publisher
    ..These results established that the C-terminal conserved aromatic residue Y291 is involved in dimer formation and the C-terminal residues 304-331 of NurA are involved in the interaction with single-stranded DNA-binding protein. ..
  6. Dong X, Zhao X, Hao Y, Wei Y, Yin Q, Du J. Response to first-line chemotherapy in patients with non-small-cell lung cancer according to epidermal growth factor receptor and K-RAS mutation status. Clin Lung Cancer. 2013;14:680-7 pubmed publisher
    ..In patients with EGFR mutations, PFS for docetaxel and gemcitabine was higher than for vinorelbine-based chemotherapies. The predictive meaning of EGFR mutation for chemotherapy should be further investigated. ..
  7. Huo Y, Huang Q, Lu M, Wu J, Lin S, Zhu F, et al. Attenuation mechanism of virulent infectious bronchitis virus strain with QX genotype by continuous passage in chicken embryos. Vaccine. 2016;34:83-9 pubmed publisher
    ..This work confirmed the high safety and immune efficacy of P110 in SPF chickens. Thus, P110 can serve as an attenuated IBV vaccine candidate. ..
  8. Pan K, Sun Q, Zhang J, Ge S, Li S, Zhao Y, et al. Multilineage differentiation of dental follicle cells and the roles of Runx2 over-expression in enhancing osteoblast/cementoblast-related gene expression in dental follicle cells. Cell Prolif. 2010;43:219-28 pubmed publisher
    ..In addition, mutant Runx2-induced changes in DFCs were more prominent than those induced by full-length Runx2. ..
  9. Sun Y, Li X, Li W, Zhao M, Wang L, Liu S, et al. Proteomic analysis of the function of spot in Helicobacter pylori anti-oxidative stress in vitro and colonization in vivo. J Cell Biochem. 2012;113:3393-402 pubmed publisher
    ..Conclusively, we speculate that spoT is a key regulator of the genes for H. pylori spreading in the air and colonization in host stomach. ..
  10. Zhao Q, Liu H, Zhang Y, Zhang Y. Engineering of protease-resistant phytase from Penicillium sp.: high thermal stability, low optimal temperature and pH. J Biosci Bioeng. 2010;110:638-45 pubmed publisher
    ..0 by facilitating the interaction between the substrate and the catalytic centre. The substitution of N354D influenced the pH profile by weakening the bondage with the side chain of D353, which caused a pKa shift of the catalytic centre. ..
  11. Shea Y, Chu L, Chan A, Ha J, Li Y, Song Y. A systematic review of familial Alzheimer's disease: Differences in presentation of clinical features among three mutated genes and potential ethnic differences. J Formos Med Assoc. 2016;115:67-75 pubmed publisher
    ..02). Thus, clinical features could be modified by underlying mutations, and Asian FAD patients may have different clinical features when compared with whites. ..
  12. Wang Z, Li M, Li L, Sun H, Lin X. Association of single nucleotide polymorphisms in the CYP1B1 gene with the risk of primary open-angle glaucoma: a meta-analysis. Genet Mol Res. 2015;14:17262-72 pubmed publisher
    ..These results must be further validated with larger-scale evaluations. ..
  13. Xia M, Zhao H, Qin Y, Mu Y, Wang J, Bian Y, et al. LHX1 mutation screening in 96 patients with müllerian duct abnormalities. Fertil Steril. 2012;97:682-5 pubmed publisher
    ..No causative perturbation was identified in the LHX1 gene. Mutations in the coding regions of LHX1 may not be a common genetic etiologic factor involved in Han Chinese MDA patients. ..
  14. Gao L, Gao F, Wang L, Geng C, Chi L, Zhao J, et al. N-glycoform diversity of cellobiohydrolase I from Penicillium decumbens and synergism of nonhydrolytic glycoform in cellulose degradation. J Biol Chem. 2012;287:15906-15 pubmed publisher
    ..These results may provide new guidelines for cellulase engineering. ..
  15. Gong B, Liu L, Li Z, Ye Z, Xiao Y, Zeng G, et al. Novel Compound Heterozygous CBS Mutations Cause Homocystinuria in a Han Chinese Family. Sci Rep. 2015;5:17947 pubmed publisher
    ..This study provides a mutation spectrum of CBS resulting in homocystinuriain a Chinese population, which may shed light on the molecular pathogenesis and clinical diagnosis of CBS-associated homocystinuria. ..
  16. Chen L, Ren Y, Lin J, Liu X, Pang X, Lin J. Acidithiobacillus caldus sulfur oxidation model based on transcriptome analysis between the wild type and sulfur oxygenase reductase defective mutant. PLoS ONE. 2012;7:e39470 pubmed publisher
    ..However, the development of genetic manipulation method for A. caldus in recent years provides powerful tools for constructing genetic mutants to study the sulfur oxidation system...
  17. Zhao G, Chen X, Zhao H, Xie B, Zhou B, Zhang Y. Hydrolysis of insoluble collagen by deseasin MCP-01 from deep-sea Pseudoalteromonas sp. SM9913: collagenolytic characters, collagen-binding ability of C-terminal polycystic kidney disease domain, and implication for its novel role in deep-sea sedimen. J Biol Chem. 2008;283:36100-7 pubmed publisher
    ..Moreover, the PKD domain was experimentally proven to bind to insoluble protein for the first time. These results imply that MCP-01 would play an important role in the degradation of deep-sea sedimentary particulate organic nitrogen...
  18. Liu L, Elmalk A, Aartsma T, Thomas J, Lamers G, Zhou B, et al. Light-induced energetic decoupling as a mechanism for phycobilisome-related energy dissipation in red algae: a single molecule study. PLoS ONE. 2008;3:e3134 pubmed publisher
    ..The orange carotenoid protein in some cyanobacteria has been demonstrated to play roles in the photoprotective mechanism. The PBsome-itself-related energy dissipation mechanism is still unclear...
  19. Guo H, Wan Y, Tian G, Liu Q, Kang Y, Li Y, et al. EGFR mutations predict a favorable outcome for malignant pleural effusion of lung adenocarcinoma with Tarceva therapy. Oncol Rep. 2012;27:880-90 pubmed publisher
    ..Detection of EGFR mutations may determine the responsiveness of malignant pleural effusion to Tarceva treatment. ..
  20. Ma J, Qin Y, Liu W, Duan H, Xia M, Chen Z. Analysis of PBX1 mutations in 192 Chinese women with Müllerian duct abnormalities. Fertil Steril. 2011;95:2615-7 pubmed publisher
    ..61 > A in exon 1 and c.998-1330A>G in intron 7. Future studies in large cohorts of different ethnic populations are warranted to establish definite associations between the PBX1 gene and Müllerian duct abnormalities...
  21. Mackay A, Burford A, Carvalho D, Izquierdo E, Fazal Salom J, Taylor K, et al. Integrated Molecular Meta-Analysis of 1,000 Pediatric High-Grade and Diffuse Intrinsic Pontine Glioma. Cancer Cell. 2017;32:520-537.e5 pubmed publisher
  22. Liu Q, Gong Y, Chen B, Guo C, Li J, Guo Y. [Linkage analysis and mutation detection of GRIA3 in Smith--Fineman--Myers syndrome]. Yi Chuan Xue Bao. 2001;28:985-90 pubmed
    ..No disease--causing mutation was found within the open reading frame of GRIA3 gene. The disease in SFMS family from Shandong (China) is not caused by the mutation within open reading frame of GRIA3 gene. ..
  23. Su B, Ji Y, Sun X, Liu X, Chen Z. Brain-derived neurotrophic factor (BDNF)-induced mitochondrial motility arrest and presynaptic docking contribute to BDNF-enhanced synaptic transmission. J Biol Chem. 2014;289:1213-26 pubmed publisher
    ..Together, these data suggest that mitochondrial transport and distribution play essential roles in BDNF-mediated synaptic transmission. ..
  24. Guo X, Sun S, Wang W, Wei F, Yu H, Ma B. Alterations of p16INK4a tumour suppressor gene in mucoepidermoid carcinoma of the salivary glands. Int J Oral Maxillofac Surg. 2007;36:350-3 pubmed
    ..These findings suggest that the main mechanisms of inactivation of the p16(INK4a) gene in MEC of the salivary glands are promoter hypermethylation and homozygous deletion...
  25. Zhang Z, Wang Y, Wang L, Gao P. The combined effects of amino acid substitutions and indels on the evolution of structure within protein families. PLoS ONE. 2010;5:e14316 pubmed publisher
    ..These results may further improve our understanding of the evolutionary mechanisms of protein structures. ..
  26. Chen L, Xu Y, Zhou C, Zhao J, Li C, Wang R. Overexpression of CDR1 and CDR2 genes plays an important role in fluconazole resistance in Candida albicans with G487T and T916C mutations. J Int Med Res. 2010;38:536-45 pubmed
    ..In conclusion, overexpression of the CDR1 and CDR2 genes may play an important role in fluconazole-resistant C. albicans with G487T and T916C mutations. ..
  27. Yan X, Yu C, Fu X, Bao F, Du D, Wang C, et al. CARD9 mutation linked to Corynespora cassiicola infection in a Chinese patient. Br J Dermatol. 2016;174:176-9 pubmed publisher
    ..All of her clinical features pointed towards a genetic linkage. Hence, whole-exome sequencing and Sanger sequencing were performed on this patient. One mutation of CARD9 was detected. ..
  28. Zhao X, Wang Z, Qi Q. [The product specificity evolution of cyclodextrin glucanotransferase: problems and challenges]. Sheng Wu Gong Cheng Xue Bao. 2007;23:181-8 pubmed
    ..Here, the recent research progresses of cyclodextrin glucanotransferase, especially those about the evolution of product specificity, were reviewed, and the scientific problems were discussed...
  29. Guo D, Ye J, Dai J, Li L, Chen F, Ma D, et al. Notch-1 regulates Akt signaling pathway and the expression of cell cycle regulatory proteins cyclin D1, CDK2 and p21 in T-ALL cell lines. Leuk Res. 2009;33:678-85 pubmed publisher
    ..In addition, our results demonstrated that down-regulation of Notch-1 signaling could sensitize SupT1 cells to adriamycin. Taken together, cell cycle regulatory proteins and Akt signaling may be attractive targets in T-ALL. ..
  30. Li G, Tillard P, Gojon A, Maurel C. Dual regulation of root hydraulic conductivity and plasma membrane aquaporins by plant nitrate accumulation and high-affinity nitrate transporter NRT2.1. Plant Cell Physiol. 2016;57:733-42 pubmed publisher
    ..1 plants. In conclusion, this work reveals that control of Arabidopsis Lpr and PIP functions by NO3(-) involves novel shoot to root signaling and NRT2.1-dependent functions. ..
  31. Gao C, Jiang T, Dou P, Ma C, Li L, Kong J, et al. NAD-independent L-lactate dehydrogenase is required for L-lactate utilization in Pseudomonas stutzeri SDM. PLoS ONE. 2012;7:e36519 pubmed publisher
    ..Various Pseudomonas strains can use L-lactate as their sole carbon source for growth. However, the L-lactate-utilizing enzymes in Pseudomonas have never been identified and further studied...
  32. Jin M, Jusiak B, Bai Z, Mardon G. Eyes absent tyrosine phosphatase activity is not required for Drosophila development or survival. PLoS ONE. 2013;8:e58818 pubmed publisher
    ..Our study suggests the need for a re-evaluation of the mechanism of Eya action and underscores the importance of studying genes in their native context. ..
  33. Zhang J, Zhang Y, Zhong Y, Qu Y, Wang T. Ras GTPases modulate morphogenesis, sporulation and cellulase gene expression in the cellulolytic fungus Trichoderma reesei. PLoS ONE. 2012;7:e48786 pubmed publisher
    ..reesei in cellular morphogenesis, especially in cellulase gene expression, which contribute to deciphering the powerful competitive ability of plant cell wall degrading fungi in nature. ..
  34. Zhang F, Yan X, Jiang D, Tian H, Wang C, Yu L. Eight novel mutations of ATP2C1 identified in 17 Chinese families with Hailey-Hailey disease. Dermatology. 2007;215:277-83 pubmed
    ..Eight mutations were found in 8 unrelated families and 1 sporadic case, and these new findings have further improved our understanding of the role of ATP2C1 in HHD. ..
  35. Wang B, Jin S, Hu H, Sun Y, Wang Y, Han P, et al. UGT87A2, an Arabidopsis glycosyltransferase, regulates flowering time via FLOWERING LOCUS C. New Phytol. 2012;194:666-75 pubmed publisher
    ..Our findings imply that UGT87A2 regulates flowering time via the flowering repressor FLOWERING LOCUS C. These data highlight an important role for the family 1 glycosyltransferases in the regulation of plant flower development. ..
  36. Qin Y, Zhao H, Kovanci E, Simpson J, Chen Z, Rajkovic A. Analysis of LHX8 mutation in premature ovarian failure. Fertil Steril. 2008;89:1012-4 pubmed
    ..1787A>G) of the LHX8 gene. These polymorphisms also were found in controls (n = 94), at frequencies that were not statistically different from those in POF women. Mutations in the LHX8 exons are uncommon in Caucasian women with POF. ..
  37. Wang H, Sun M, Qin Y, Xia T, Ma J, Chen Z. Mutations in DMC1 are not responsible for premature ovarian failure in Chinese women. Reprod Biomed Online. 2013;26:175-8 pubmed publisher
    ..No additional single-nucleotide polymorphisms or mutations were found. The results suggested mutations in the coding sequence of DMC1 are not associated with premature ovarian failure in Chinese women. ..
  38. Lu W, Kong J, Kong W. Construction and application of a food-grade expression system for Lactococcus lactis. Mol Biotechnol. 2013;54:170-6 pubmed publisher
    ..These results indicate that this food-grade host/vector expression system has application potential as an excellent antigen delivery vehicle, and is also suitable for the use in the manufacture of ingredients for the food industry...
  39. Zhao H, Qin Y, Kovanci E, Simpson J, Chen Z, Rajkovic A. Analyses of GDF9 mutation in 100 Chinese women with premature ovarian failure. Fertil Steril. 2007;88:1474-6 pubmed
    ..Thr238Ala) and was not present in any of 96 controls. Substitution of the hydrophobic amino acid residue alanine for hydrophilic threonine may disrupt growth differentiation factor 9 function. ..
  40. Huang S, Duan S, Sun T, Wang J, Zhao L, Geng Z, et al. JIP3 mediates TrkB axonal anterograde transport and enhances BDNF signaling by directly bridging TrkB with kinesin-1. J Neurosci. 2011;31:10602-14 pubmed publisher
  41. Lian P, Liu L, Shi Y, Bu Y, Wei D. Tethered-hopping model for protein-DNA binding and unbinding based on Sox2-Oct1-Hoxb1 ternary complex simulations. Biophys J. 2010;98:1285-93 pubmed publisher
    ..We propose a simple two-step reaction model of protein-DNA binding, called the tethered-hopping model, that explains the importance of the cofactor Sox2 and may apply to similar ternary protein-DNA complexes. ..
  42. Li Y, Chen G, Liu W. Multiple metabolic signals influence GAL gene activation by modulating the interaction of Gal80p with the transcriptional activator Gal4p. Mol Microbiol. 2010;78:414-28 pubmed
    ..These results indicate that multiple metabolic signals exist to facilitate the efficient and appropriate dissociation of Gal80p from Gal4p by Gal3p to achieve the fully active state of Gal4p in the nucleus. ..
  43. Zou Y, Mi J, Cui J, Lu D, Zhang X, Guo C, et al. Characterization of nuclear localization signal in the N terminus of CUL4B and its essential role in cyclin E degradation and cell cycle progression. J Biol Chem. 2009;284:33320-32 pubmed publisher
    ..NLS-deleted CUL4B was distributed in cytoplasm and failed to promote cell proliferation. Therefore, the nuclear localization of CUL4B mediated by NLS is critical for its normal function in cell proliferation. ..
  44. Shao M, Liu Z, Wang C, Li H, Carron C, Zhang H, et al. Down syndrome critical region protein 5 regulates membrane localization of Wnt receptors, Dishevelled stability and convergent extension in vertebrate embryos. Development. 2009;136:2121-31 pubmed publisher
  45. Gong G, Sun X, Liu X, Hu W, Cao W, Liu H, et al. Mutation and a high-throughput screening method for improving the production of Epothilones of Sorangium. J Ind Microbiol Biotechnol. 2007;34:615-23 pubmed
    ..Furthermore, the production was greatly increased by the genome shuffling. For epothilone B, the production of one fusant was increased about 130 times compared to the starting strain, increasing from 0.8 mg l(-1) to 104 mg l(-1)...
  46. Ma J, Ma D, Ji C. The role of IL-21 in hematological malignancies. Cytokine. 2011;56:133-9 pubmed publisher
    ..In this review, we will discuss the expression of IL-21/IL-21R and its effect in different types of hematological malignancies. ..
  47. Shen H, Luan F, Liu H, Gao L, Liang X, Zhang L, et al. ZHX2 is a repressor of alpha-fetoprotein expression in human hepatoma cell lines. J Cell Mol Med. 2008;12:2772-80 pubmed publisher
    ..These data support the idea that ZHX2 contributes to AFP repression in the liver after birth and may also be involved in AFP reactivation in liver cancer. ..
  48. Lin R, Nie J, Ren J, Liang R, Li D, Wang P, et al. USP4 interacts and positively regulates IRF8 function via K48-linked deubiquitination in regulatory T cells. FEBS Lett. 2017;591:1677-1686 pubmed publisher
    ..In addition, the deficiency of USP4 alleviated the suppressive function of Treg cells. Taken together, our results suggest that USP4 interacts with and stabilizes IRF8 to promote the suppressive function of Treg cells. ..
  49. Chen L, Liu L, Wang M, Fu J, Zhang Z, Hou J, et al. Hal2p functions in Bdf1p-involved salt stress response in Saccharomyces cerevisiae. PLoS ONE. 2013;8:e62110 pubmed publisher
    ..Our findings shed new light towards our understanding about the molecular mechanism of Bdf1p-involved salt stress response in budding yeast. ..
  50. Willis M, Holley D, Wang Z, Chen X, Quintana M, Jensen B, et al. BRG1 and BRM function antagonistically with c-MYC in adult cardiomyocytes to regulate conduction and contractility. J Mol Cell Cardiol. 2017;105:99-109 pubmed publisher
    ..BRG1/BRM and c-MYC have an antagonistic relationship regulating the expression of cardiac conduction genes that maintain contractility, which is reminiscent of their antagonistic roles as a tumor suppressor and oncogene in cancer. ..
  51. Zhang F, Liu H, Jiang D, Tian H, Wang C, Yu L. Six novel mutations of the ADAR1 gene in Chinese patients with dyschromatosis symmetrica hereditaria. J Dermatol Sci. 2008;50:109-14 pubmed publisher
    ..Six novel mutations were found in five unrelated families and one sporadic case, which have further improved our understanding on the role of ADAR1 in DSH. Interestingly, we failed to detect any mutations of ADAR1 in two families. ..
  52. Zheng J, Wang Y, He Y, Zhou J, Li Y, Liu Q, et al. Overexpression of an S-like ribonuclease gene, OsRNS4, confers enhanced tolerance to high salinity and hyposensitivity to phytochrome-mediated light signals in rice. Plant Sci. 2014;214:99-105 pubmed publisher
    ..Our findings supply new evidence on the functions of monocot S-like RNase in regulating photosensitivity and abiotic stress responses...
  53. Tian H, Yan X, Liu H, Yu Y, Zhang F. Six novel ATP2C1 mutations identified in Chinese patients with Hailey-Hailey disease. J Dermatol Sci. 2010;58:80-2 pubmed publisher
  54. Zhou Y, Zheng P, Yang Y, Ge Z, Kang W. A novel PITX2c loss?of?function mutation underlies lone atrial fibrillation. Int J Mol Med. 2013;32:827-34 pubmed publisher
  55. Qin Z, Xu H, Ouyang W, Wang Y, Wang L, Yuan X, et al. [Correlation of the neutralization index in chicken embryo with the homologies of F and HN gene of different Newcastle-disease isolates]. Wei Sheng Wu Xue Bao. 2008;48:226-33 pubmed
    ..05, r = 0.20 or 0.19) with the F gene, and non-correlated with 374 nt segment. This implied that the genetic mutations of HN resulted in antigenic variations of these viruses and the search for new vaccines would be necessary...
  56. Liu Q, Xia Y, Zhang W, Li J, Wang P, Li H, et al. A functional polymorphism in the SPINK5 gene is associated with asthma in a Chinese Han Population. BMC Med Genet. 2009;10:59 pubmed publisher
    ..Our findings indicate that the -206G>A polymorphism in the SPINK5 is associated with asthma susceptibility in a Chinese Han population. ..
  57. Li H, Chen Q, Liu F, Zhang X, Liu T, Li W, et al. Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles. J Hum Genet. 2011;56:335-8 pubmed publisher
    ..1523T>C (p.L508S) was 25% in the Chinese patients with DMRV. Our findings expand the genetic spectrum of DMRV and indicate that the common mutations of GNE gene in DMRV may be variable among different ethnic populations...
  58. Xiao P, Shin K, Wang T, Yu J. Aspergillus fumigatus flbB encodes two basic leucine zipper domain (bZIP) proteins required for proper asexual development and gliotoxin production. Eukaryot Cell. 2010;9:1711-23 pubmed publisher
    ..fumigatus development. Finally, Northern blot analyses reveal that both AfuflbB and AfuflbE are necessary for expression of AfuflbD, suggesting that FlbD functions downstream of FlbB/FlbE in aspergilli. ..
  59. Zhou L, Wang H, Ju Z, Zhang Y, Huang J, Qi C, et al. Association of novel single nucleotide polymorphisms of the CXCR1 gene with the milk performance traits of Chinese native cattle. Genet Mol Res. 2013;12:2725-39 pubmed publisher
  60. Zhu G, Ke X, Liu Q, Li J, Chen B, Shao C, et al. Recurrence of the D100N mutation in a Chinese family with brachydactyly type A1: evidence for a mutational hot spot in the Indian hedgehog gene. Am J Med Genet A. 2007;143A:1246-8 pubmed
  61. Shao M, Wang M, Liu Y, Ge Y, Zhang Y, Shi D. Vegetally localised Vrtn functions as a novel repressor to modulate bmp2b transcription during dorsoventral patterning in zebrafish. Development. 2017;144:3361-3374 pubmed publisher
    ..Our work unveils a novel maternal mechanism regulating zygotic BMP gradient in dorsoventral patterning. ..
  62. Lin B, Sun X, Su S, Lv C, Zhang X, Lin L, et al. HIV drug resistance in HIV positive individuals under antiretroviral treatment in Shandong Province, China. PLoS ONE. 2017;12:e0181997 pubmed publisher
    ..However, patients on second line ART regimens and those with low educational level need continuous monitoring. Active drug resistance testing can effectively prevent the development of drug resistance. ..
  63. Guan H, Du Y, Ning Y, Cao X. A brief perspective of drug resistance toward EGFR inhibitors: the crystal structures of EGFRs and their variants. Future Med Chem. 2017;9:693-704 pubmed publisher
    ..Moreover, new strategies for avoiding EGFR drug resistance in cancer treatments are also discussed. ..
  64. Wang M, Zhao Q, Yang J, Jiang B, Wang F, Liu K, et al. A mitogen-activated protein kinase Tmk3 participates in high osmolarity resistance, cell wall integrity maintenance and cellulase production regulation in Trichoderma reesei. PLoS ONE. 2013;8:e72189 pubmed publisher
    ..reesei is evolved to favor solid state growth, bringing up the proposal that the submerged condition normally used during investigations on fungal physiology might be misleading. ..
  65. Liu J, Zhang F, Zhou J, Chen F, Wang B, Xie X. Phytochrome B control of total leaf area and stomatal density affects drought tolerance in rice. Plant Mol Biol. 2012;78:289-300 pubmed publisher
    ..Considering all these findings, we propose that phyB deficiency causes both reduced total leaf area and reduced transpiration per unit leaf area, which explains the reduced water loss and improved drought tolerance of phyB mutants. ..
  66. Chu F, Wen H, Hou G, Lin B, Zhang W, Song Y, et al. [Study on functions of N-carbohydrate chains in human parainfluenza virus type 3 hemagglutinin-neuraminidase protein]. Bing Du Xue Bao. 2013;29:500-8 pubmed
    ..We propose that the loss of N-glycans change the conformation or orientation of globular domain that is responsible for receptor binding and lower receptor binding activity and cell fusion promotion activi ty. ..
  67. Chen L, Li H, Zhang P, Wang S. Association between vitamin D receptor polymorphisms and periodontitis: a meta-analysis. J Periodontol. 2012;83:1095-103 pubmed publisher
  68. Zhang S, Wei T, Hou G, Zhang C, Liang P, Ni J, et al. Archaeal DNA helicase HerA interacts with Mre11 homologue and unwinds blunt-ended double-stranded DNA and recombination intermediates. DNA Repair (Amst). 2008;7:380-91 pubmed publisher
  69. Shan J, Wen B, Zhu J, Lin P, Zheng J, Yan C. Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration. Neurol Sci. 2013;34:561-3 pubmed publisher
    ..T1130C) in PANK2 gene, which were confirmed to be deleterious. We verify the clinical heterogeneity even in siblings with identical genotype and expand the gene mutation pool for PKAN. ..
  70. Qin Y, Choi Y, Zhao H, Simpson J, Chen Z, Rajkovic A. NOBOX homeobox mutation causes premature ovarian failure. Am J Hum Genet. 2007;81:576-81 pubmed
    ..Arg355His, disrupted NOBOX homeodomain binding to NOBOX DNA-binding element (NBE) and had a dominant negative effect on the binding of wild-type NOBOX to DNA. Our findings demonstrate that NOBOX mutations can cause POF. ..
  71. Han W, Gu J, Liu H, Li F, Wu Z, Li Y. An extra peptide within the catalytic module of a ?-agarase affects the agarose degradation pattern. J Biol Chem. 2013;288:9519-31 pubmed publisher
    ..Site-swapping experiments of Tyr(276) to 19 various other amino acids demonstrated that the characteristics of this residue were crucial for the AgaG4 degradation of agarose and the cleavage pattern of substrate. ..
  72. Zhang Q, Zhang Q, Cong H, Zhang X. The ectopic expression of BRCA1 is associated with genesis, progression, and prognosis of breast cancer in young patients. Diagn Pathol. 2012;7:181 pubmed publisher
    ..The virtual slide(s) for this article can be found here: ..
  73. Zhang S, Chen J, Cui P, Shi W, Shi X, Niu H, et al. Mycobacterium tuberculosis Mutations Associated with Reduced Susceptibility to Linezolid. Antimicrob Agents Chemother. 2016;60:2542-4 pubmed publisher
    ..Our findings provide useful information for the rapid detection of LZD resistance for improved treatment of MDR-TB. ..
  74. Zhang Y, Li R, Meng Y, Li S, Donelan W, Zhao Y, et al. Irisin stimulates browning of white adipocytes through mitogen-activated protein kinase p38 MAP kinase and ERK MAP kinase signaling. Diabetes. 2014;63:514-25 pubmed publisher
    ..In summary, our data suggest that irisin can potentially prevent obesity and associated type 2 diabetes by stimulating expression of WAT browning-specific genes via the p38 MAPK and ERK pathways. ..
  75. Kang Z, Wang Y, Gu P, Wang Q, Qi Q. Engineering Escherichia coli for efficient production of 5-aminolevulinic acid from glucose. Metab Eng. 2011;13:492-8 pubmed publisher
    ..The constructed E. coli DALA produced 4.13g/L ALA in modified minimal medium from glucose without adding any other co-substrate or inhibitor. This strategy offered an attractive potential to metabolic production of ALA in E. coli...
  76. Wu W, Pang X, Lin J, Liu X, Wang R, Lin J, et al. Discovery of a new subgroup of sulfur dioxygenases and characterization of sulfur dioxygenases in the sulfur metabolic network of Acidithiobacillus caldus. PLoS ONE. 2017;12:e0183668 pubmed publisher
    ..Taken together, the results suggest that sdo1 is essential for the survival of A. caldus when tetrathionate is used as the sole energy resource, and sdo2 may also play a role in sulfur metabolism. ..
  77. Sun H, Liu Y, Li N, Sun Z, Zhao H, Wang C, et al. Sublocalization of Rab23, a mediator of Sonic hedgehog signaling pathway, in hepatocellular carcinoma cell lines. Mol Med Rep. 2012;6:1276-80 pubmed publisher
    ..This difference depends on the GDP/GTP-binding form, and inhibition of the Rab23 cycle decreases the expression and nuclear localization of Gli1. ..