Experts and Doctors on mutation in Kunming, Yunnan, China


Locale: Kunming, Yunnan, China
Topic: mutation

Top Publications

  1. He Y, Xie Y, Chen Y, Qian W, Lai J, Tan D. [Cloning and analysis of a novel gene encoding N-terminal acetyltransferase subunit]. Sheng Wu Hua Xue Yu Sheng Wu Wu Li Xue Bao (Shanghai). 2002;34:353-7 pubmed
    ..Result of in situ hybridization in testis of rat showed that expression of NAT1 was high and its expression was different in different phases of spermatogenesis. The gene may play an important role in spermatogenesis. ..
  2. Rao F, Cai X, Cheng F, Cheng W, Fang X, Li N, et al. Mutations in LRP5,FZD4, TSPAN12, NDP, ZNF408, or KIF11 Genes Account for 38.7% of Chinese Patients With Familial Exudative Vitreoretinopathy. Invest Ophthalmol Vis Sci. 2017;58:2623-2629 pubmed publisher
  3. Bai S, Feng Q, Pan X, Zou H, Chen H, Wang P, et al. Overexpression of wild-type p21Ras plays a prominent role in colorectal cancer. Int J Mol Med. 2017;39:861-868 pubmed publisher
    ..Our findings indicate that overexpression of wild-type p21Ras may play a prominent role in the development of CRC in addition to ras mutations and could be a promising target for CRC therapy. ..
  4. Wu Y, Zhou C, Hu C, Feng J, Lu S, Huang Y, et al. Afatinib versus cisplatin plus gemcitabine for first-line treatment of Asian patients with advanced non-small-cell lung cancer harbouring EGFR mutations (LUX-Lung 6): an open-label, randomised phase 3 trial. Lancet Oncol. 2014;15:213-22 pubmed publisher
    ..Afatinib should be considered as a first-line treatment option for this patient population. Boehringer Ingelheim. ..
  5. Zhang J, Zhu B, He J, Zeng X, Su J, Xu X, et al. The spectrum of ?- and ?-thalassemia mutations in Yunnan Province of Southwestern China. Hemoglobin. 2012;36:464-73 pubmed
    ..In this study, we provide a complete mutation spectrum of ?- and ?-thal mutations and a valuable strategy for accurate molecular diagnostic testing in Yunnan Province, People's Republic of China (PRC). ..
  6. Nian Y, Zhu H, Tang W, Luo Y, Du J, Qiu M. Triterpenes from the aerial parts of Cimicifuga yunnanensis and their antiproliferative effects on p53(N236S) mouse embryonic fibroblasts. J Nat Prod. 2013;76:896-902 pubmed publisher
    ..8, 8.6, and 6.0 ?M, respectively. Compound 4 exhibited greater selectivity against the p53(-/-)+p53(N236S)+H-RasV12 cells (IC50 5.5 ?M) than against the WT MEFs cells (IC50 14.3 ?M)...
  7. Kong Q, Salas A, Sun C, Fuku N, Tanaka M, Zhong L, et al. Distilling artificial recombinants from large sets of complete mtDNA genomes. PLoS ONE. 2008;3:e3016 pubmed publisher
    ..All these recombinant sequences were subsequently corrected by de novo experiments--fully concordant with the predictions from our data-analytical approach. ..
  8. Zhang P, Li D, Stewart Jones G, Shao X, Zhang Y, Chen Q, et al. A single amino acid defines cross-species reactivity of tree shrew (Tupaia belangeri) CD1d to human invariant natural killer T (iNKT) cells. Immunology. 2009;128:500-10 pubmed publisher
    ..Also, a naturally occurring CD1d mutation(s) that confers inability to stimulate iNKT cell function may have implications for future studies on CD1d/iNKT-associated diseases...
  9. Shi L, Li M, Lin Q, Qi X, Su B. Functional divergence of the brain-size regulating gene MCPH1 during primate evolution and the origin of humans. BMC Biol. 2013;11:62 pubmed publisher

More Information


  1. Liu G. Isolation, sequence identification, and tissue expression profile of 3 novel porcine genes: NCF2, BCKDHB and BCKDHA. J Appl Genet. 2009;50:47-50 pubmed publisher
    ..Tissue expression profile analysis revealed that porcine NCF2, BCKDHB and BCKDHA genes were differentially expressed in tissues, including skeletal muscle, the heart, liver, fat, kidney, lung, small and large intestine. ..
  2. Shen Y, Liang L, Li G, Murphy R, Zhang Y. Parallel evolution of auditory genes for echolocation in bats and toothed whales. PLoS Genet. 2012;8:e1002788 pubmed publisher
  3. Hu Y, Chen L, Wang H, Zhang L, Wang F, Yu D. Arabidopsis transcription factor WRKY8 functions antagonistically with its interacting partner VQ9 to modulate salinity stress tolerance. Plant J. 2013;74:730-45 pubmed publisher
    ..These results provided strong evidence that the VQ9 protein acts as a repressor of the WRKY8 factor to maintain an appropriate balance of WRKY8-mediated signaling pathways to establish salinity stress tolerance. ..
  4. Xiang K, Ouzhuluobu -, Peng Y, Yang Z, Zhang X, Cui C, et al. Identification of a Tibetan-specific mutation in the hypoxic gene EGLN1 and its contribution to high-altitude adaptation. Mol Biol Evol. 2013;30:1889-98 pubmed publisher
  5. Wu D, Jin W, Hao X, Tang N, Zhang Y. Evidence for positive selection on the Osteogenin (BMP3) gene in human populations. PLoS ONE. 2010;5:e10959 pubmed publisher
    ..In conclusion, we provide evidence for recent positive selection operating upon a crucial gene in skeletal development, which may provide new insight into the evolution of the skeletal system and bone development. ..
  6. Zhou Q, Wang J, Huang L, Nie W, Wang J, Liu Y, et al. Neo-sex chromosomes in the black muntjac recapitulate incipient evolution of mammalian sex chromosomes. Genome Biol. 2008;9:R98 pubmed publisher
    ..The regular mammalian X and Y chromosomes diverged from each other at least 166 to 148 million years ago, leaving few traces of their early evolution, including degeneration of the Y chromosome and evolution of dosage compensation...
  7. Gao L, Xu H. Comparisons of mutation rate variation at genome-wide microsatellites: evolutionary insights from two cultivated rice and their wild relatives. BMC Evol Biol. 2008;8:11 pubmed publisher
    ..In general, different population histories occurred along different lineages may result in the observed variation of population mutation rates at microsatellites among the studied Oryza species. ..
  8. Deng Z, Yang F, Bai Y, He L, Li Q, Wu Y, et al. Co-inheritance of glucose-6-phosphate dehydrogenase deficiency mutations and hemoglobin E in a Kachin population in a malaria-endemic region of Southeast Asia. PLoS ONE. 2017;12:e0177917 pubmed publisher
    ..The presence of 6% males with severe G6PD deficiency raised a major concern in the use of primaquine for radical cure of vivax malaria. ..
  9. Hu Y, Jiang L, Wang F, Yu D. Jasmonate regulates the inducer of cbf expression-C-repeat binding factor/DRE binding factor1 cascade and freezing tolerance in Arabidopsis. Plant Cell. 2013;25:2907-24 pubmed publisher
    ..Taken together, our study provides evidence that jasmonate functions as a critical upstream signal of the ICE-CBF/DREB1 pathway to positively regulate Arabidopsis freezing tolerance...
  10. Wang J, Nie H, Tam S, Huang H, Zheng Y. Anti-HIV-1 property of trichosanthin correlates with its ribosome inactivating activity. FEBS Lett. 2002;531:295-8 pubmed
    ..Another mutant TCS(R122G), which exhibited a 160-fold decrease in RI activity, retained some anti-HIV activity. The results from this study suggested that RI activity of TCS may have significant contribution to its anti-HIV-1 property. ..
  11. Yu X, Yang M, Zhou B, Wang G, Huang Y, Wu L, et al. Characterization of Somatic Mutations in Air Pollution-Related Lung Cancer. EBioMedicine. 2015;2:583-90 pubmed publisher
    ..This study uncovers the mutation spectrum of air pollution-related lung cancers, and provides evidence for pollution exposure-genomic mutation relationship at a large scale. ..
  12. Chen Y, Yu J, Niu Y, Qin D, Liu H, Li G, et al. Modeling Rett Syndrome Using TALEN-Edited MECP2 Mutant Cynomolgus Monkeys. Cell. 2017;169:945-955.e10 pubmed publisher
  13. Yin C, Yao Y, Yan Z, Yang H. [Correlation between mutation of p53 gene 2-4 exons from peripheral blood and HPV16 positive cervical cancer susceptibility and clinical significance]. Zhonghua Fu Chan Ke Za Zhi. 2017;52:320-326 pubmed publisher
    ..029]???????????????????????????????????????????????????????????p>0.05?? ??? ????p53??2~4??????hpv16?????????????????????c?a2?????gg?a1a2????c-a2?g-a1???????????????????????????????p53???????????????????????????????. ..
  14. Jia S, Zhao L, Tang W, Luo Y. The gain of function of p53 mutant p53S in promoting tumorigenesis by cross-talking with H-RasV12. Int J Biol Sci. 2012;8:596-605 pubmed publisher
    ..This study revealed an important aspect of gain of function for p53 mutant, therefore might shed light on the clinical strategy in targeting p53 mutant. ..
  15. Liu Z, Wu X, Duan Y, Wang Y, Shan B, Kong J, et al. AID expression is correlated with Bcr-Abl expression in CML-LBC and can be down-regulated by As2O3 and/or imatinib. Leuk Res. 2011;35:1355-9 pubmed publisher
    ..We also observed satisfied therapy effects of As(2)O(3) and imatinib on patients with CML blast crisis. These data suggest that decreasing AID expression in CML-LBC by As(2)O(3) may be a promising approach to CML treatment. ..
  16. Lu Z, Peng J, Su B. A human-specific mutation leads to the origin of a novel splice form of neuropsin (KLK8), a gene involved in learning and memory. Hum Mutat. 2007;28:978-84 pubmed
    ..Our results demonstrate a molecular mechanism for the creation of novel proteins through alternative splicing in the central nervous system during human evolution. ..
  17. Li W, Wang R, Li M, Li L, Wang C, Welti R, et al. Differential degradation of extraplastidic and plastidic lipids during freezing and post-freezing recovery in Arabidopsis thaliana. J Biol Chem. 2008;283:461-8 pubmed
    ..These data suggest a negative role for PLDalpha1 and a positive role for PLDdelta in freezing tolerance. ..
  18. Zhang A, Zou Y, Guo X, Jia X, Zhang Q, Yao Y. Mitochondrial DNA mutation m.3635G>A may be associated with Leber hereditary optic neuropathy in Chinese. Biochem Biophys Res Commun. 2009;386:392-5 pubmed publisher
    ..3635G>A decreases the protein hydrophobicity. Our current observations provide further support for a pathogenic role of m.3635G>A in patients with LHON. ..
  19. Zhou Z, Liu R, Chen C. The WWP1 ubiquitin E3 ligase increases TRAIL resistance in breast cancer. Int J Cancer. 2012;130:1504-10 pubmed publisher
    ..Depletion of the initial caspase-8 blocked WWP1 inhibition-induced apoptosis in MCF7. These findings suggest that inhibition of WWP1 may be combined with TRAIL to suppress ER?-positive breast cancer cell survival. ..
  20. Palanichamy M, Zhang Y. Potential pitfalls in MitoChip detected tumor-specific somatic mutations: a call for caution when interpreting patient data. BMC Cancer. 2010;10:597 pubmed publisher
    ..more care should be taken in maintaining sample identity and 2. analysis should always be undertaken with respect to all the data available and within an evolutionary framework to eliminate artifacts and mix-ups. ..
  21. Hao M, Jia D, Li Q, He Y, Yuan L, Xu S, et al. In vitro sensitivities of Plasmodium falciparum isolates from the China-Myanmar border to piperaquine and association with polymorphisms in candidate genes. Antimicrob Agents Chemother. 2013;57:1723-9 pubmed publisher
    ..However, we could not establish a link between PPQ responses and the polymorphisms in the three genes associated with quinoline drug resistance. ..
  22. Zou Y, Zeng Y, Zhang D, Zou S, Cheng Y, Yao Y. IDH1 and IDH2 mutations are frequent in Chinese patients with acute myeloid leukemia but rare in other types of hematological disorders. Biochem Biophys Res Commun. 2010;402:378-83 pubmed publisher
    ..9% and 8.3%, respectively. Our results supported the recent findings that IDH gene mutations were common in AML. Conversely, IDH mutations were rather rare in Chinese patients with other types of hematological disorders. ..
  23. Bi R, Zhang A, Yu D, Chen D, Yao Y. Screening the three LHON primary mutations in the general Chinese population by using an optimized multiplex allele-specific PCR. Clin Chim Acta. 2010;411:1671-4 pubmed publisher
    ..The optimized MAS-PCR assay provides an easier, faster and more cost-effective method for detection of the three LHON primary mutations, making it practical for clinical diagnosis...
  24. Jiang W, Yu D. Arabidopsis WRKY2 transcription factor mediates seed germination and postgermination arrest of development by abscisic acid. BMC Plant Biol. 2009;9:96 pubmed publisher
    ..ABI5, ABI3, ABA2 and ABA3 are important regulators of the transcripts of WRKY2 by ABA treatment. Our results suggest that WRKY2 transcription factor mediates seed germination and postgermination developmental arrest by ABA. ..
  25. Yang J, Hu A, Wang L, Li B, Chen Y, Zhao W, et al. NOEY2 mutations in primary breast cancers and breast hyperplasia. Breast. 2009;18:197-203 pubmed publisher
    ..The presence of NOEY2 mutations in human breast cancer and early-stage lesions indicates that NOEY2 mutations may be partly associated with breast tumourigenesis. ..
  26. Yao Y, Kong Q, Salas A, Bandelt H. Pseudomitochondrial genome haunts disease studies. J Med Genet. 2008;45:769-72 pubmed publisher
    ..Appropriate database searches and a phylogenetic approach can prevent hasty claims for novelty of mitochondrial DNA (mtDNA) variants inadvertently derived from NUMTs and help to direct investigators to the real source. ..
  27. Kong Q, Bandelt H, Sun C, Yao Y, Salas A, Achilli A, et al. Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations. Hum Mol Genet. 2006;15:2076-86 pubmed
    ..g. appropriate association studies. Following a guideline based on the phylogenetic knowledge as proposed here could help avoiding similar problems in the future. ..
  28. Zeng W, Yang J, Dong Y, Shi H, Gao L, Yang Z, et al. [The frequency distribution of flavin-containing monooxygenase 3 mutant alleles in 28 populations from Yunnan]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003;20:318-21 pubmed
    ..It was found that the frequencies of FMO3 mutant alleles varied not only in different ethnic groups, but also in different populations that stemmed from the same ethnic group. ..
  29. Zou Y, Jia X, Zhang A, Wang W, Li S, Guo X, et al. The MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with clinical features of LHON but lacking the three primary mutations. Biochem Biophys Res Commun. 2010;399:179-85 pubmed publisher
    ..Variants m.3736G>A (p.V144I) in family Le1235 and m.10680G>A (p.A71T) in Le1107 can be the pathogenic mutations for LHON. ..
  30. Jiang Y, Liang G, Yu D. Activated expression of WRKY57 confers drought tolerance in Arabidopsis. Mol Plant. 2012;5:1375-88 pubmed publisher
    ..Establishment of the functions of WRKY57 will enable improvement of plant drought tolerance through gene manipulation approaches. ..
  31. Li H, Wang C, Wang J, Wu G, Yu P, Yan X, et al. Mutation analysis of a large Chinese pedigree with congenital preaxial polydactyly. Eur J Hum Genet. 2009;17:604-10 pubmed publisher
    ..The etiology of this PPD family still remains unclear and the question whether another limb-specific regulatory element of shh gene exists in the noncoding region in this 1.7 cM interval remains open for future research. ..
  32. Pillar N, Pleniceanu O, Fang M, Ziv L, Lahav E, Botchan S, et al. A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism. Hum Genet. 2017;136:835-845 pubmed publisher
    ..Altogether, our data suggest that FHL1 is a novel regulator of calcium homeostasis and implicate it as the causative gene for X-linked recessive hypoparathyroidism. ..
  33. Xi D, Wu M, Fan Y, Huo Y, Leng J, Gou X, et al. Isolation and characteristics of the melanocortin 1 receptor gene (MC1R) in the Chinese yakow (Bos grunniens√óBos taurus). Gene. 2012;498:259-63 pubmed publisher
    ..However, three classical bovine MC1R loci the E(D), E(+) and e were not retrieved in the Chinese yakow, indicating other genes or factors could be involved in affecting coat colour in this species. ..
  34. Yang J, Xu X, Mi H, Jiang Y, Ma X, Li L. [NKX2.5 and TBX5 gene mutations in in vitro fertilization children with congenital heart disease]. Zhongguo Dang Dai Er Ke Za Zhi. 2017;19:652-657 pubmed
    ..There is no difference in NKX2.5 and TBX5 gene mutations between IVF and naturally conceived children with CHD. Therefore, it is presumed that assisted reproductive technology may not lead to mutations in the NKX2.5 and TBX5 genes. ..