Alias: man, Homo sapiens, Homo sapiens Linnaeus, 1758

Top Publications

  1. Peng X, Huang H, Lu J, Liu X, Zhao F, Zhang B, et al. MiR-124 suppresses tumor growth and metastasis by targeting Foxq1 in nasopharyngeal carcinoma. Mol Cancer. 2014;13:186 pubmed publisher
    ..Then, we explored the role of miR-124 in NPC tumorigenesis by in vitro and in vivo experiments. Homo sapiens forkhead box Q1 (Foxq1) was confirmed as a novel direct target gene of miR-124 by the dual-luciferase assay and ..
  2. Ostenfeld M, Jeppesen D, Laurberg J, Boysen A, Bramsen J, Primdal Bengtson B, et al. Cellular disposal of miR23b by RAB27-dependent exosome release is linked to acquisition of metastatic properties. Cancer Res. 2014;74:5758-71 pubmed publisher
    ..Taken together, our results suggested that exosome-mediated secretion of tumor-suppressor miRNA is selected during tumor progression as a mechanism to coordinate activation of a metastatic cascade. ..
  3. Zhang C, Zhang J, Fan J, Cheng W, Du Y, Yu S, et al. Identification of ANKK1 rs1800497 variant in schizophrenia: new data and meta-analysis. Am J Med Genet B Neuropsychiatr Genet. 2014;165B:564-71 pubmed publisher
    ..These findings may represent a significant genetic clue for the etiology of schizophrenia in females, but further investigation is required to clarify the exact role of ANKK1 in the development of schizophrenia. ..
  4. Du H, Wu K, Didoronkute A, Levy M, Todi N, Shchelokova A, et al. MID1 catalyzes the ubiquitination of protein phosphatase 2A and mutations within its Bbox1 domain disrupt polyubiquitination of alpha4 but not of PP2Ac. PLoS ONE. 2014;9:e107428 pubmed publisher
  5. Huang H, Tao Y. Functions of the DRY motif and intracellular loop 2 of human melanocortin 3 receptor. J Mol Endocrinol. 2014;53:319-30 pubmed publisher
    ..In summary, we demonstrated that the cytoplasmic end of TM3 and the ICL2 were critical for MC3R function. We also reported for the first time biased signaling in MC3R. ..
  6. Theurillat J, Udeshi N, Errington W, Svinkina T, Baca S, Pop M, et al. Prostate cancer. Ubiquitylome analysis identifies dysregulation of effector substrates in SPOP-mutant prostate cancer. Science. 2014;346:85-89 pubmed publisher
    ..DEK stabilization promoted prostate epithelial cell invasion, which implicated DEK as an oncogenic effector. More generally, these results provide a framework to decipher tumorigenic mechanisms linked to dysregulated ubiquitylation. ..
  7. Antoniou A, Casadei S, Heikkinen T, Barrowdale D, Pylkäs K, Roberts J, et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med. 2014;371:497-506 pubmed publisher
    ..Germline loss-of-function mutations in PALB2 are known to confer a predisposition to breast cancer. However, the lifetime risk of breast cancer that is conferred by such mutations remains unknown...
  8. Lin Moshier Y, Keebler M, Hooper R, Boulware M, Liu X, Churamani D, et al. The Two-pore channel (TPC) interactome unmasks isoform-specific roles for TPCs in endolysosomal morphology and cell pigmentation. Proc Natl Acad Sci U S A. 2014;111:13087-92 pubmed publisher
    ..Here, we compiled a proteomic characterization of the human TPC interactome, which revealed that TPCs complex with many proteins involved in Ca(2+) homeostasis, trafficking, ..
  9. Traylor M, Mäkelä K, Kilarski L, Holliday E, Devan W, Nalls M, et al. A novel MMP12 locus is associated with large artery atherosclerotic stroke using a genome-wide age-at-onset informed approach. PLoS Genet. 2014;10:e1004469 pubmed publisher
    ..001). Our results show that a covariate-informed design, by adjusting for age-at-onset of stroke, can detect variants not identified by conventional GWAS. ..

More Information

Publications249 found, 100 shown here

  1. Sutinen P, Rahkama V, Rytinki M, Palvimo J. Nuclear mobility and activity of FOXA1 with androgen receptor are regulated by SUMOylation. Mol Endocrinol. 2014;28:1719-28 pubmed publisher
    ..Moreover, the mutation altered the ability of FOXA1 to influence proliferation of LNCaP cells. Taken together, these results strongly suggest that the SUMOylation can regulate the transcriptional activity of FOXA1 with the AR. ..
  2. Grass G, Dai L, Qin Z, Parsons C, Toole B. CD147: regulator of hyaluronan signaling in invasiveness and chemoresistance. Adv Cancer Res. 2014;123:351-73 pubmed publisher
    ..We conclude that cooperativity between HA, HA receptors, and CD147 may be a major driver of the interconnected pathways of invasiveness and chemoresistance widely critical to malignancy. ..
  3. Mizielinska S, Grönke S, Niccoli T, Ridler C, Clayton E, Devoy A, et al. C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins. Science. 2014;345:1192-1194 pubmed publisher
    ..These findings are consistent with a dual toxicity mechanism, whereby both arginine-rich proteins and repeat RNA contribute to C9orf72-mediated neurodegeneration. ..
  4. West J, Davis C, Sunwoo H, Simon M, Sadreyev R, Wang P, et al. The long noncoding RNAs NEAT1 and MALAT1 bind active chromatin sites. Mol Cell. 2014;55:791-802 pubmed publisher
    ..purify endogenous RNAs and their associated factors, we mapped the genomic binding sites for two highly expressed human lncRNAs, NEAT1 and MALAT1...
  5. Tsai Y, Lai C, Lai C, Chang K, Wu K, Tseng S, et al. The role of homeostatic regulation between tumor suppressor DAB2IP and oncogenic Skp2 in prostate cancer growth. Oncotarget. 2014;5:6425-36 pubmed
    ..The outcome of this study has identified new potential targets for developing new therapeutic strategy for PCa. ..
  6. Ito S, Horikawa S, Suzuki T, Kawauchi H, Tanaka Y, Suzuki T, et al. Human NAT10 is an ATP-dependent RNA acetyltransferase responsible for N4-acetylcytidine formation in 18 S ribosomal RNA (rRNA). J Biol Chem. 2014;289:35724-30 pubmed publisher
    b>Human N-acetyltransferase 10 (NAT10) is known to be a lysine acetyltransferase that targets microtubules and histones and plays an important role in cell division...
  7. Lorente L, Martín M, González Rivero A, Ferreres J, Solé Violán J, Labarta L, et al. Serum levels of caspase-cleaved cytokeratin-18 and mortality are associated in severe septic patients: pilot study. PLoS ONE. 2014;9:e109618 pubmed publisher
    ..The major novel finding of our study, the largest cohort of septic patients providing data on circulating CCCK-18 levels, was that serum CCCK-18 levels are associated with mortality in severe septic patients. ..
  8. Prensner J, Chen W, Han S, Iyer M, Cao Q, Kothari V, et al. The long non-coding RNA PCAT-1 promotes prostate cancer cell proliferation through cMyc. Neoplasia. 2014;16:900-8 pubmed publisher
    ..This work establishes a basis for the oncogenic role of PCAT-1 in cancer cell proliferation and is the first study to implicate lncRNAs in the regulation of cMyc in prostate cancer. ..
  9. Lee S, Byoun Y, Jeong S, Woo B, Jang E, Kim J, et al. Role of the PNPLA3 I148M polymorphism in nonalcoholic fatty liver disease and fibrosis in Korea. Dig Dis Sci. 2014;59:2967-74 pubmed publisher
    ..035-169.526, p = 0.010) or a BARD score ?2 (odds ratio 4.040, 95% CI 1.084-15.048, p = 0.037). The PNPLA3 rs738409 polymorphism is common and may confer a significant risk of NAFLD and advanced liver fibrosis in the Korean population. ..
  10. Makarevic J, Rutz J, Juengel E, Kaulfuss S, Reiter M, Tsaur I, et al. Amygdalin blocks bladder cancer cell growth in vitro by diminishing cyclin A and cdk2. PLoS ONE. 2014;9:e105590 pubmed publisher
    ..Amygdalin, therefore, may block tumor growth by down-modulating cdk2 and cyclin A. In vivo investigation must follow to assess amygdalin's practical value as an anti-tumor drug. ..
  11. Xie L, Mouillet J, Chu T, Parks W, Sadovsky E, Knöfler M, et al. C19MC microRNAs regulate the migration of human trophoblasts. Endocrinology. 2014;155:4975-85 pubmed publisher
    ..The largest human microRNA (miRNA) gene cluster, the chromosome 19 miRNA cluster (C19MC), is expressed almost exclusively in the ..
  12. Ye M, DU Y, Nie Y, Zhou Z, Cao J, Li Y. Overexpression of activated leukocute cell adhesion molecule in gastric cancer is associated with advanced stages and poor prognosis and miR-9 deregulation. Mol Med Rep. 2015;11:2004-12 pubmed publisher
    Activated leukocyte cell adhesion molecule (ALCAM) has been identified as a novel potential molecular marker of human tumors...
  13. Chen A, Beetham H, Black M, Priya R, Telford B, Guest J, et al. E-cadherin loss alters cytoskeletal organization and adhesion in non-malignant breast cells but is insufficient to induce an epithelial-mesenchymal transition. BMC Cancer. 2014;14:552 pubmed publisher
  14. Faraj S, Chaux A, Gonzalez Roibon N, Munari E, Ellis C, Driscoll T, et al. ARID1A immunohistochemistry improves outcome prediction in invasive urothelial carcinoma of urinary bladder. Hum Pathol. 2014;45:2233-9 pubmed publisher
    ..There was a tendency for low ARID1A expression to predict better outcome. More importantly, the findings indicate that adding ARID1A expression to pathologic features increases the goodness of fit of the predictive model. ..
  15. Zhang C, Liu J, Wang X, Wu R, Lin M, Laddha S, et al. MicroRNA-339-5p inhibits colorectal tumorigenesis through regulation of the MDM2/p53 signaling. Oncotarget. 2014;5:9106-17 pubmed
    ..Our results highlighted an important role of microRNA-339-5p in suppression of colorectal tumorigenesis, and also revealed that regulating the p53 function is an important mechanism for microRNA-339-5p in tumor suppression. ..
  16. Zhang J, Mai S, Huang X, Wang F, Liao Y, Lin M, et al. MiR-29c mediates epithelial-to-mesenchymal transition in human colorectal carcinoma metastasis via PTP4A and GNA13 regulation of β-catenin signaling. Ann Oncol. 2014;25:2196-204 pubmed publisher
    ..miR-29c has been implicated as a tumor suppressor in several human cancers...
  17. Bejar R, Lord A, Stevenson K, Bar Natan M, Pérez Ladaga A, Zaneveld J, et al. TET2 mutations predict response to hypomethylating agents in myelodysplastic syndrome patients. Blood. 2014;124:2705-12 pubmed publisher
    ..002) but not Tet2-WT cells (P = .212). Overall, Tet2 loss appears to sensitize cells to treatment with AZA in vivo, and TET2 mutations can identify patients more likely to respond to HMAs. ..
  18. Gong P, Liu J, Li S, Zhou X. Serotonin receptor gene (5-HT1A) modulates alexithymic characteristics and attachment orientation. Psychoneuroendocrinology. 2014;50:274-9 pubmed publisher
    ..These findings provide the first evidence for the link between 5-HT1A and the development of alexithymic characteristics and attachment orientation. ..
  19. Skibola C, Berndt S, Vijai J, Conde L, Wang Z, Yeager M, et al. Genome-wide association study identifies five susceptibility loci for follicular lymphoma outside the HLA region. Am J Hum Genet. 2014;95:462-71 pubmed publisher
    Genome-wide association studies (GWASs) of follicular lymphoma (FL) have previously identified human leukocyte antigen (HLA) gene variants...
  20. Ohoka N, Nagai K, Hattori T, Okuhira K, Shibata N, Cho N, et al. Cancer cell death induced by novel small molecules degrading the TACC3 protein via the ubiquitin-proteasome pathway. Cell Death Dis. 2014;5:e1513 pubmed publisher
    ..These results suggest that protein knockdown of TACC3 by SNIPER(TACC3) is a potential strategy for treating cancers overexpressing the TACC3 protein. ..
  21. Kelly B, Graham S, Liska N, Dannhauser P, Höning S, Ungewickell E, et al. Clathrin adaptors. AP2 controls clathrin polymerization with a membrane-activated switch. Science. 2014;345:459-63 pubmed publisher
    ..This molecular switching mechanism can couple AP2's membrane recruitment to its key functions of cargo and clathrin binding. ..
  22. Akita H, Marquardt J, Durkin M, Kitade M, Seo D, Conner E, et al. MYC activates stem-like cell potential in hepatocarcinoma by a p53-dependent mechanism. Cancer Res. 2014;74:5903-13 pubmed publisher
    ..Together, our results confirm the role of c-MYC as a master regulator during hepatocarcinogenesis and establish a new gatekeeper role for p53 in repressing c-MYC-induced CSC phenotype in liver cancer cells. ..
  23. Gwak J, Kim H, Kim E, Chung Y, Yun S, Seo A, et al. MicroRNA-9 is associated with epithelial-mesenchymal transition, breast cancer stem cell phenotype, and tumor progression in breast cancer. Breast Cancer Res Treat. 2014;147:39-49 pubmed publisher
    ..This study was designed to evaluate the expression levels of these miRNAs in human breast cancer samples and analyzed their relationship with clinicopathologic features of the tumor including ..
  24. Kabir S, Hockemeyer D, de Lange T. TALEN gene knockouts reveal no requirement for the conserved human shelterin protein Rap1 in telomere protection and length regulation. Cell Rep. 2014;9:1273-80 pubmed publisher
    The conserved protein Rap1 functions at telomeres in fungi, protozoa, and vertebrates. Like yeast Rap1, human Rap1 has been implicated in telomere length regulation and repression of nonhomologous end-joining (NHEJ) at telomeres...
  25. Durcan T, Tang M, Pérusse J, Dashti E, Aguileta M, McLelland G, et al. USP8 regulates mitophagy by removing K6-linked ubiquitin conjugates from parkin. EMBO J. 2014;33:2473-91 pubmed publisher
    ..This work uncovers a novel role for USP8-mediated deubiquitination of K6-linked ubiquitin conjugates from parkin in mitochondrial quality control. ..
  26. Otti G, Saleh L, Velicky P, Fiala C, Pollheimer J, Knöfler M. Notch2 controls prolactin and insulin-like growth factor binding protein-1 expression in decidualizing human stromal cells of early pregnancy. PLoS ONE. 2014;9:e112723 pubmed publisher
    Decidualization, the transformation of the human uterine mucosa into the endometrium of pregnancy, is critical for successful implantation and embryonic development...
  27. Huang C, Chang W, Shui H, Hsieh Y, Loh C, Wang H, et al. Evaluation of the contribution of methylenetetrahydrofolate reductase genotypes to Taiwan breast cancer. Anticancer Res. 2014;34:4109-15 pubmed
    ..20-1.90). Our results indicate that MTHFR C677T T allele was associated with increased risk of breast cancer in Taiwan, especially in cases who were 45.4 old or younger and with earlier menarche age (<12.2 years). ..
  28. Martin C, Ahmad I, Klingseisen A, Hussain M, Bicknell L, Leitch A, et al. Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. Nat Genet. 2014;46:1283-1292 pubmed publisher
    ..primordial dwarfism and additional congenital anomalies, including retinopathy, thereby extending the human phenotypic spectrum associated with centriole dysfunction...
  29. Valiente Echeverría F, Melnychuk L, Vyboh K, Ajamian L, Gallouzi I, Bernard N, et al. eEF2 and Ras-GAP SH3 domain-binding protein (G3BP1) modulate stress granule assembly during HIV-1 infection. Nat Commun. 2014;5:4819 pubmed publisher
    ..Understanding how HIV-1 counters anti-viral stress responses will lay the groundwork for new therapeutic strategies to bolster host cell immune defences against HIV-1 and other pathogens. ..
  30. Pancera M, Zhou T, Druz A, Georgiev I, Soto C, Gorman J, et al. Structure and immune recognition of trimeric pre-fusion HIV-1 Env. Nature. 2014;514:455-61 pubmed publisher
    The human immunodeficiency virus type 1 (HIV-1) envelope (Env) spike, comprising three gp120 and three gp41 subunits, is a conformational machine that facilitates HIV-1 entry by rearranging from a mature unliganded state, through ..
  31. Zhou X, Chen J, Tang W. The molecular mechanism of HOTAIR in tumorigenesis, metastasis, and drug resistance. Acta Biochim Biophys Sin (Shanghai). 2014;46:1011-5 pubmed publisher
    ..transcript antisense intergenic RNA (HOTAIR), a long non-coding RNA, is pervasively over-expressed in most human cancers compared with non-cancerous adjacent tissues...
  32. Zhang J, Shen C, Wang L, Ma Q, Xia P, Qi M, et al. Metformin inhibits epithelial-mesenchymal transition in prostate cancer cells: involvement of the tumor suppressor miR30a and its target gene SOX4. Biochem Biophys Res Commun. 2014;452:746-52 pubmed publisher
    ..In all, our study suggested that inhibition of EMT by metformin in PCa cells may involve upregulation of miR30a and downregulation of SOX4. ..
  33. Zhang Y, Molavi O, Su M, Lai R. The clinical and biological significance of STAT1 in esophageal squamous cell carcinoma. BMC Cancer. 2014;14:791 pubmed publisher
    ..To conclude, our findings suggest that STAT1 is a tumor suppressor in ESCC. Loss of STAT1, which is frequent in ESCC, contributes to the pathogenesis of these tumors. ..
  34. Marzese D, Liu M, Huynh J, Hirose H, Donovan N, Huynh K, et al. Brain metastasis is predetermined in early stages of cutaneous melanoma by CD44v6 expression through epigenetic regulation of the spliceosome. Pigment Cell Melanoma Res. 2015;28:82-93 pubmed publisher
    ..Overall, these findings open a new avenue for understanding the high affinity of melanoma to progress to MBM, suggesting CD44v6 as a potential MBM-specific factor with theranostic utility for stratifying patients. ..
  35. Lessel D, Vaz B, Halder S, Lockhart P, Marinovic Terzic I, Lopez Mosqueda J, et al. Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features. Nat Genet. 2014;46:1239-44 pubmed publisher
    ..In addition to demonstrating the pathogenicity of identified SPRTN mutations, our findings provide a molecular explanation of how SPRTN dysfunction causes accelerated aging and susceptibility toward carcinoma. ..
  36. Yang H, Li J, Liu S, Zhao J, Jiang Y, Song A, et al. Aggregation of polyglutamine-expanded ataxin-3 sequesters its specific interacting partners into inclusions: implication in a loss-of-function pathology. Sci Rep. 2014;4:6410 pubmed publisher
  37. Fan H, Zhao Y, Zhu J, Song F. Urine neutrophil gelatinase-associated lipocalin in septic patients with and without acute kidney injury. Ren Fail. 2014;36:1399-403 pubmed publisher
    ..12; 95% CI: 6.21-90.37; p?<?0.0001). uNGAL is independently associated with subsequent AKI among patients with sepsis. ..
  38. Tu K, Li C, Zheng X, Yang W, Yao Y, Liu Q. Prognostic significance of miR-218 in human hepatocellular carcinoma and its role in cell growth. Oncol Rep. 2014;32:1571-7 pubmed publisher
    MicroRNA-218 (miR-218) is considered a tumor suppressor in human cancer. In the present study, miR-218 expression was found to be significantly lower in human hepatocellular carcinoma (HCC) than in normal tumor-adjacent tissues...
  39. Cezar de Mello P, Toledo Pinto T, Marques C, Arnez L, Cardoso C, Guerreiro L, et al. Pre-miR-146a (rs2910164 G>C) single nucleotide polymorphism is genetically and functionally associated with leprosy. PLoS Negl Trop Dis. 2014;8:e3099 pubmed publisher
    ..In both cases lower TNF levels correlates with subjects carrying the risk C-allele, (p = 0.0453 and p = 0.0352; respectively), which is consistent with an immunomodulatory role of this miRNA in leprosy. ..
  40. Xu C, Wang X, Liu K, Roundtree I, Tempel W, Li Y, et al. Structural basis for selective binding of m6A RNA by the YTHDC1 YTH domain. Nat Chem Biol. 2014;10:927-9 pubmed publisher
  41. Siroy A, Boland G, Milton D, Roszik J, Frankian S, Malke J, et al. Beyond BRAF(V600): clinical mutation panel testing by next-generation sequencing in advanced melanoma. J Invest Dermatol. 2015;135:508-515 pubmed publisher
    ..These results enrich our understanding of the patterns and clinical associations of oncogenic mutations in melanoma. ..
  42. Genre F, López Mejías R, García Bermúdez M, Castañeda S, González Juanatey C, Llorca J, et al. Osteoprotegerin CGA haplotype protection against cerebrovascular complications in anti-CCP negative patients with rheumatoid arthritis. PLoS ONE. 2014;9:e106823 pubmed publisher
    ..022, respectively). Our results indicate a protective effect of the OPG CGA haplotype on cardiovascular risk, mainly due to a protective effect against cerebrovascular events in anti-CCP negative rheumatoid arthritis patients. ..
  43. Chen H, Li L, Wang S, Lei Y, Ge Q, Lv N, et al. Reduced miR-126 expression facilitates angiogenesis of gastric cancer through its regulation on VEGF-A. Oncotarget. 2014;5:11873-85 pubmed
    ..Overall, the results from our study suggested that miR-126 could suppress tumor growth and tumor angiogenesis of GC through VEGF-A signaling, and it is a novel potential therapeutic target for GC. ..
  44. Genre F, López Mejías R, Miranda Filloy J, Ubilla B, Carnero López B, Palmou Fontana N, et al. Osteoprotegerin correlates with disease activity and endothelial activation in non-diabetic ankylosing spondylitis patients undergoing TNF-α antagonist therapy. Clin Exp Rheumatol. 2014;32:640-6 pubmed
    ..OPG shows a correlation with markers of disease activity and endothelial activation in non-diabetic ankylosing spondylitis patients undergoing TNF-α antagonist therapy. ..
  45. Conway V, Allard M, Minihane A, Jackson K, Lovegrove J, Plourde M. Postprandial enrichment of triacylglycerol-rich lipoproteins with omega-3 fatty acids: lack of an interaction with apolipoprotein E genotype?. Lipids Health Dis. 2014;13:148 pubmed publisher
    ..Registered at ..
  46. Cravens S, Hobson M, Stivers J. Electrostatic properties of complexes along a DNA glycosylase damage search pathway. Biochemistry. 2014;53:7680-92 pubmed publisher
    b>Human uracil DNA glycosylase (hUNG) follows an extended reaction coordinate for locating rare uracil bases in genomic DNA...
  47. Di Micco R, Fontanals Cirera B, Low V, Ntziachristos P, Yuen S, Lovell C, et al. Control of embryonic stem cell identity by BRD4-dependent transcriptional elongation of super-enhancer-associated pluripotency genes. Cell Rep. 2014;9:234-47 pubmed publisher
    ..Our study describes a mechanism of regulation of ESC identity that could be applied to improve the efficiency of ESC differentiation. ..
  48. Hashemi M, Omrani M, Eskandari Nasab E, Hasani S, Mashhadi M, Taheri M. A 40-bp insertion/deletion polymorphism of Murine Double Minute2 (MDM2) increased the risk of breast cancer in Zahedan, Southeast Iran. Iran Biomed J. 2014;18:245-9 pubmed
    ..Overexpression of MDM2 gene has been reported in several human tumors...
  49. Kwon I, Xiang S, Kato M, Wu L, Theodoropoulos P, Wang T, et al. Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells. Science. 2014;345:1139-45 pubmed publisher
    ..Both peptides bound to hnRNPA2 hydrogels independent of CLK1/2 activity. When applied to cultured cells, both peptides entered cells, migrated to the nucleus, bound nucleoli, and poisoned RNA biogenesis, which caused cell death. ..
  50. Muller V, Gade S, Steinbach B, Loibl S, von Minckwitz G, Untch M, et al. Changes in serum levels of miR-21, miR-210, and miR-373 in HER2-positive breast cancer patients undergoing neoadjuvant therapy: a translational research project within the Geparquinto trial. Breast Cancer Res Treat. 2014;147:61-8 pubmed publisher
    Trastuzumab and lapatinib are established treatments for patients with HER2 (human epidermal growth factor receptor 2)-positive breast cancer with different mechanisms of action...
  51. Kastirr I, Maglie S, Paroni M, Alfen J, Nizzoli G, Sugliano E, et al. IL-21 is a central memory T cell-associated cytokine that inhibits the generation of pathogenic Th1/17 effector cells. J Immunol. 2014;193:3322-31 pubmed publisher
    ..Anti-IL-21 treatment of autoimmune patients is therefore a therapeutic option, but the role of IL-21 in human T cell differentiation is incompletely understood...
  52. Espert A, Uluocak P, Bastos R, Mangat D, Graab P, Gruneberg U. PP2A-B56 opposes Mps1 phosphorylation of Knl1 and thereby promotes spindle assembly checkpoint silencing. J Cell Biol. 2014;206:833-42 pubmed publisher
    ..Our findings extend the previously reported role for BubR1-associated PP2A-B56 in opposing Aurora B and suggest that BubR1-bound PP2A-B56 integrates kinetochore surveillance and silencing of the SAC. ..
  53. Smadja D, Dorfmuller P, Guerin C, Bieche I, Badoual C, Boscolo E, et al. Cooperation between human fibrocytes and endothelial colony-forming cells increases angiogenesis via the CXCR4 pathway. Thromb Haemost. 2014;112:1002-13 pubmed publisher
    ..IPF-Fy co-implanted with human ECFC in Matrigel plugs in immunodeficient mice formed functional microvascular beds, whereas fibroblasts did not...
  54. He J, Liao X, Zhu J, Xue W, Shen G, Huang S, et al. Association of MTHFR C677T and A1298C polymorphisms with non-Hodgkin lymphoma susceptibility: evidence from a meta-analysis. Sci Rep. 2014;4:6159 pubmed publisher
    ..Increased NHL risk was also shown for A1298C among Asians. These findings warrant validation in large and well-designed prospective studies. ..
  55. Sun Z, Meng C, Wang S, Zhou N, Guan M, Bai C, et al. MicroRNA-1246 enhances migration and invasion through CADM1 in hepatocellular carcinoma. BMC Cancer. 2014;14:616 pubmed publisher
    ..Our study showed that miR-1246, by down-regulation CADM1, enhances migration and invasion in HCC cells. ..
  56. Hsiao C, Lin X, Barney R, Shippy R, Li J, Vinogradova O, et al. Synthesis of a phosphoantigen prodrug that potently activates V?9V?2 T-lymphocytes. Chem Biol. 2014;21:945-54 pubmed publisher
    ..prodrug is the most potent phosphoantigen described to date, with stronger stimulation of V?9V?2 T cells from human peripheral blood and greater ability to induce lysis of Daudi lymphoma cells relative to the previously most ..
  57. Boone P, Yuan B, Campbell I, Scull J, Withers M, Baggett B, et al. The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. Am J Hum Genet. 2014;95:143-61 pubmed publisher
    ..Moreover, we provide further mechanistic insights into Alu-mediated copy-number change that are extendable to other loci. ..
  58. Lou S, Zhao Z, Qian J, Zhao K, Wang R. Association of single nucleotide polymorphisms in ADAM12 gene with susceptibility to knee osteoarthritis: a case-control study in a Chinese Han population. Int J Clin Exp Pathol. 2014;7:5154-9 pubmed
    ..In conclusion, our data demonstrated the ADAM12 rs1871054 variant was found to be significantly associated with increased OA susceptibility in a Chinese Han population. ..
  59. Seymen F, Lee K, Koruyucu M, Gencay K, Bayram M, Tuna E, et al. ENAM mutations with incomplete penetrance. J Dent Res. 2014;93:988-92 pubmed publisher
    ..We believe that these findings will broaden our understanding of the clinical phenotype of AI caused by ENAM mutations. ..
  60. Sun X, Jiang F, Zhang R, Tang S, Chen M, Peng D, et al. Serum uric acid levels are associated with polymorphisms in the SLC2A9, SF1, and GCKR genes in a Chinese population. Acta Pharmacol Sin. 2014;35:1421-7 pubmed publisher
  61. Liu J, Voisin V, Wang S, Wang D, Jones R, Datti A, et al. Combined deletion of Pten and p53 in mammary epithelium accelerates triple-negative breast cancer with dependency on eEF2K. EMBO Mol Med. 2014;6:1542-60 pubmed publisher
    ..elongation factor-2 kinase (eEF2K) inhibitors as more potent than PI3K/AKT/mTOR inhibitors on both mouse and human Pten/p53-deficient TNBC cells. Sensitivity to eEF2K inhibition correlated with AKT pathway activity...
  62. Miyazaki T, Ikeda K, Horie Inoue K, Inoue S. Amyloid precursor protein regulates migration and metalloproteinase gene expression in prostate cancer cells. Biochem Biophys Res Commun. 2014;452:828-33 pubmed publisher
    ..APP has also been implicated in several human malignancies...
  63. Johnson K, Bottero V, Flaherty S, Dutta S, Singh V, Chandran B. IFI16 restricts HSV-1 replication by accumulating on the hsv-1 genome, repressing HSV-1 gene expression, and directly or indirectly modulating histone modifications. PLoS Pathog. 2014;10:e1004503 pubmed publisher
    ..IFI16 is a restriction factor for human cytomegalovirus (HCMV) and herpes simplex virus (HSV-1), though the mechanisms of HSV-1 restriction are not yet ..
  64. Krishnamurthy S, Warner K, Dong Z, Imai A, Nör C, Ward B, et al. Endothelial interleukin-6 defines the tumorigenic potential of primary human cancer stem cells. Stem Cells. 2014;32:2845-57 pubmed publisher
    ..Here, we report that stromal interleukin (IL)-6 defines the tumorigenic capacity of CSC sorted from primary human HNSCC and transplanted into mice...
  65. Bleck M, Itano M, Johnson D, Thomas V, North A, Bieniasz P, et al. Temporal and spatial organization of ESCRT protein recruitment during HIV-1 budding. Proc Natl Acad Sci U S A. 2014;111:12211-6 pubmed publisher
  66. Lei Y, Hu X, Li B, Peng M, Tong S, Zu X, et al. miR-150 modulates cisplatin chemosensitivity and invasiveness of muscle-invasive bladder cancer cells via targeting PDCD4 in vitro. Med Sci Monit. 2014;20:1850-7 pubmed publisher
    ..Thus, modulation of the miR-150-PDCD4 axis shows promise as a therapeutic strategy for MIBC. ..
  67. Arsenault B, Pelletier Beaumont E, Almeras N, Tremblay A, Poirier P, Bergeron J, et al. PCSK9 levels in abdominally obese men: association with cardiometabolic risk profile and effects of a one-year lifestyle modification program. Atherosclerosis. 2014;236:321-6 pubmed publisher
  68. Foulkes W, Priest J, Duchaine T. DICER1: mutations, microRNAs and mechanisms. Nat Rev Cancer. 2014;14:662-72 pubmed publisher
    ..This Review reflects on the molecular properties of the Dicer enzymes in small RNA silencing pathways, and rationalizes the newly discovered mutations on the basis of the activities and functions of its determinants. ..
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    ..Funded by the Frederick Adler Fund and others.). ..
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    ..Our findings reveal a coordinated action between CRL4B and SIN3A-HDAC complexes in transcriptional repression. ..
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    ..g. CASP4/9/10 and APAF1). In light of the established role of HNF1A in the regulation of pancreatic development and homeostasis, our data suggest that it also functions as an important tumor suppressor in the pancreas. ..
  73. Vanlander A, Menten B, Smet J, De Meirleir L, Sante T, De Paepe B, et al. Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2). Hum Mutat. 2015;36:222-31 pubmed publisher
    ..This confirmed the pathogenic nature of the variant. To conclude, the reported variant in NARS2 results in a combined OXPHOS complex deficiency involving complex I and IV, making NARS2 a new member of disease-associated aaRS2. ..
  74. Amorim N, da Silva E, de Castro R, da Silva Januário M, Mendonça L, Bonifacino J, et al. Interaction of HIV-1 Nef protein with the host protein Alix promotes lysosomal targeting of CD4 receptor. J Biol Chem. 2014;289:27744-56 pubmed publisher
    Nef is an accessory protein of human immunodeficiency viruses that promotes viral replication and progression to AIDS through interference with various host trafficking and signaling pathways...
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    ..In hypoacylated endotoxins all acyl chains could be accommodated within the binding pocket of the human hMD-2. Nevertheless, tetra- and pentaacylated endotoxins activate the TLR4/MD-2 receptor of several species...
  76. Wendt L, Albring A, Benson S, Engler H, Engler A, Hinney A, et al. Catechol-O-methyltransferase Val158Met polymorphism is associated with somatosensory amplification and nocebo responses. PLoS ONE. 2014;9:e107665 pubmed publisher
    ..Together these data demonstrate potential genetic and psychological variables predicting nocebo responses after drug and placebo intake, which might be utilized to minimize nocebo effects in clinical trials and medical practice. ..
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    Whole exome sequencing has proven to be a powerful tool for understanding the genetic architecture of human disease. Here we apply it to more than 2,500 simplex families, each having a child with an autistic spectrum disorder...
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    ..We found that HOTAIR was involved in inhibition of apoptosis and promoted invasiveness, supporting a role for HOTAIR in carcinogenesis and progression of gastric cancer. ..
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    ..While the oncoprotein Mucin-1 (MUC1) performs multiple roles in the development of diverse human tumors, whether MUC1 is involved in acquired chemoresistance has not been determined...
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    ..Poly-GA-induced Unc119 loss of function may thereby contribute to selective vulnerability of neurons with DPR protein inclusions in the pathogenesis of C9orf72 FTLD/ALS. ..
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    ..By using an Affymetrix array that covers 723 human miRNAs, we identified 26 miRNAs with significant changes in expression in PBMCs of MDD patients...
  83. Alsaadi M, Erzurumluoglu A, Rodriguez S, Guthrie P, Gaunt T, Omar H, et al. Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia. Hum Mutat. 2014;35:1446-8 pubmed publisher
    ..Our finding also shows that given prior knowledge from model organisms, even a single whole-exome sequence can be sufficient to discover a novel causal gene. ..
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    ..13, meta-GCTA h(2)(24-30-months) = 0.14) and in concordance with additional twin analysis (5,733 pairs of European descent, h(2)(24-months) = 0.20). ..
  85. Hendershot J, O Brien P. Critical role of DNA intercalation in enzyme-catalyzed nucleotide flipping. Nucleic Acids Res. 2014;42:12681-90 pubmed publisher
    ..mutagenesis and transient kinetic approaches to dissect the energetic contribution of intercalation for human alkyladenine DNA glycosylase, an enzyme that initiates repair of alkylation damage...
  86. Gjyshi O, Bottero V, Veettil M, Dutta S, Singh V, Chikoti L, et al. Kaposi's sarcoma-associated herpesvirus induces Nrf2 during de novo infection of endothelial cells to create a microenvironment conducive to infection. PLoS Pathog. 2014;10:e1004460 pubmed publisher
    ..KSHV induces reactive oxygen species (ROS) early during infection of human dermal microvascular endothelial (HMVEC-d) cells that are critical for virus entry...
  87. Tu K, Zheng X, Dou C, Li C, Yang W, Yao Y, et al. MicroRNA-130b promotes cell aggressiveness by inhibiting peroxisome proliferator-activated receptor gamma in human hepatocellular carcinoma. Int J Mol Sci. 2014;15:20486-99 pubmed publisher
    ..Notably, PPAR-γ knockdown abolished down-regulation of miR-130b-inhibited EMT in MHCC97H cells. In conclusion, miR-130b may promote HCC cell migration and invasion by inhibiting PPAR-γ and subsequently inducing EMT. ..
  88. Pignatelli J, Goswami S, Jones J, Rohan T, Pieri E, Chen X, et al. Invasive breast carcinoma cells from patients exhibit MenaINV- and macrophage-dependent transendothelial migration. Sci Signal. 2014;7:ra112 pubmed publisher
    ..patients and found that, in an in vitro transendothelial migration assay, cells that migrated through a layer of human endothelial cells were enriched for the transcript encoding Mena(INV), an invasive isoform of Mena...
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    ..These findings suggest that inhibition of a Stat3 feedback loop may augment the response to a broad spectrum of drugs that target pathways of oncogene addiction. ..
  90. Xie H, Liu T, Wang N, Björnhagen V, Höög A, Larsson C, et al. TERT promoter mutations and gene amplification: promoting TERT expression in Merkel cell carcinoma. Oncotarget. 2014;5:10048-57 pubmed
    ..and clinical significance underlying cancer-specific TERT expression have been extensively investigated in various human malignancies, but little is known about these in Merkel cell carcinoma (MCC), an aggressive neuroendocrine skin ..
  91. Wang Z, Cui W, Yang L, Zhu Y, Wei W. Association of dietary intake of folate and MTHFR genotype with breast cancer risk. Genet Mol Res. 2014;13:5446-51 pubmed publisher
    ..We found any interaction between MTHFR C677T and folate intake (P for interaction = 0.02). In conclusion, our study demonstrated that MTHFR C677T polymorphism and folate are associated with risk of breast cancer. ..
  92. Borge M, Remes Lenicov F, Nannini P, de los Ríos Alicandú M, Podaza E, Ceballos A, et al. The expression of sphingosine-1 phosphate receptor-1 in chronic lymphocytic leukemia cells is impaired by tumor microenvironmental signals and enhanced by piceatannol and R406. J Immunol. 2014;193:3165-74 pubmed publisher
    ..Based on our results, we suggest that the regulated expression of S1PR1 might modulate the egress of the leukemic clone from lymphoid tissues. ..