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3,787,340 | 40263271 | 13,845 | A characteristic feature of the ETB-CN-FKBP12 complex is the acquired interaction between ETB and calcineurin. In general, receptors and fusion partners are inherently non-interacting combinations and do not interact outside of the fusion point (Supplementary Fig. 8a). The intracellular side of ETB is positively charge... | [
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1,015,056 | 36829940 | 37,175 | Wildtype DsbA structures had revealed that E24, E37 and K58 directly coordinate a network of water molecules (w1-w4) in a buried channel extending from the bulk solvent to the active site. Extensive hydrogen bond networks between water molecules and the polar side chains of residues have been previously identified in t... | [
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2,079,583 | 9158154 | 49 | Sanfilippo A syndrome (mucopolysaccharidosis type IIIA, MPS-IIIA) is an autosomal recessive neurodegenerative disorder due to an enzymatic defect of the lysosomal enzyme sulphamidase (EC 3.10.1.1) required for the degradation of heparan sulphate. In this study, molecular defects in the sulphamidase gene of MPS-IIIA pat... | [
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1,884,897 | 26057335 | 24,809 | Among other serotonin-related genes, found an association between early-onset BD (<=16 years) and Cys23Ser polymorphism of the serotonin 2C receptor gene (HTR2C). In 151 Kurdish-Iranian BD-I patients, however, did not find a significant overrepresentation of the HTR2C Ser allele in early-onset cases (<=19 years). did n... | [
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537,088 | 32941798 | 4,069 | Here, we specifically address the contribution of PPARgamma S273 phosphorylation to the development of insulin resistance, using a genetically modified mouse model where PPARgamma cannot be phosphorylated at S273. These data demonstrate that genetic prevention of PPARgamma S273 phosphorylation is an insulin-sensitizing... | [
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2,836,067 | 37483002 | 23,300 | p value for the interaction term estimated from the full Cox models for late-life BP variable and FOXO3 genotype, adjusting for baseline variables: age, education (years), APOE e4, CASI score, BMI, plasma glucose, smoking (pack- year), alcohol drinking (ounces/month), physical activity index, and prevalent diabetes, ... | [
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176,448 | 35921893 | 3,119 | The placenta is formed from trophoblast subtypes derived from the trophectoderm (TE), endothelial cells derived from the fetal mesenchyme, and decidual cells derived from the mother. TE-derived cells undergo extensive cell proliferation and differentiation to form the trophoblasts of the placenta. A functional placenta... | [
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4,935,091 | 34837662 | 6,779 | The HEXACO Personality Inventory-Revised HEXACO PI-R (Lee & Ashton,) contains 100 items with a 5-point Likert-type scale ranging from 1 (strongly disagree) to 5 (strongly agree). It assesses six personality domains: Honesty/humility, Emotionality, eXtraversion, Agreeableness, Conscientiousness, and Openness. We used th... | [
528
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4,646,630 | 30919020 | 41,324 | Gene Variant Chromosome/position P value Type of study Training schedule Type of exercise test Population Author; year Heart rate increase CREB1a rs2253206 2:208100223 1.6 x 10-5 GWAS 20 weeks, 3 times a day, 30-50 min at submaximal HR Submaximal bicycle Healthy, but sedentary Rankinen et al. (2012) GCH1a rs2... | [
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1,930,342 | 34347777 | 22,884 | To better understand the molecular basis for the paclitaxel-resistance (PacR) phenotype, gene expression profiling was conducted on the PacR ovarian cancer cell lines and matched parental controls. Gene expression differences associated with paclitaxel resistance revealed common changes in certain transcripts irrespect... | [
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4,936,193 | 31134011 | 33,253 | Structural and sequence analysis revealed that the stalk domain possesses a conserved sequence motif, NINQ. These residues, together with a few flanking residues (I70, N73, Q74, and R77), form a patch on the surface of PcfF (Supplementary Figure S4). We gained evidence that this patch mediates binding of PcfF to PcfG b... | [
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1,847,317 | 23707061 | 23,479 | (A,B) Thin layer chromatography analysis of cGAS cyclic dinucleotide synthesis. Purified full-length cGAS was incubated with substrate nucleotides and immune-stimulatory DNA (ISD DNA) as indicated. An E225A/D227A mutation to the cGAS active site (Mut) ablates cyclic dinucleotide production. Dotted radioactive spots cor... | [
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60,321 | PMC12472048 | 17,259 | All cases in our series had a substantial history of cigarette smoking (mean pack-years 62.7). Because smoking is a strong risk factor for LC, the high and relatively homogeneous smoking exposure in our case group may have obscured small/moderate effects of the NQO1 C609T polymorphism. This limits our ability to dise... | [
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595,533 | 25829402 | 25,826 | We investigated whether the anti-melanoma activity observed in vitro could be extended to an in vivo mouse model. T cells co-expressing Firefly luciferase (ffLuc) and HERV-K env-specific CAR were generated by "double transposition" using the SB system (Supplemental Fig. 5A). The growth kinetics, cytotoxicity, and speci... | [
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5,294,075 | 19340315 | 14,500 | To rule out pH dependent effects on PTP activity in the wild type HD-PTP, we performed enzymatic assays in the pH range between pH 4 to 8.5 using the catalytic domain and compared this activity to the S/A mutant (Fig. 2E, F). While the CD-S/A mutant harbored enzymatic activity in the entire pH range tested with an opti... | [
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493,868 | 28493957 | 7,689 | The cDNA encoding human ezrin (Uniprot code: P15311) was produced from mRNA derived from A431 epithelial carcinoma cells. The amplified gene was then cloned into the same pET-based expression vector containing N-terminal His6-tag and a TEV protease cleavage site. The N-ERMAD (Met1-Lys296) and its F2 lobe (Glu87-Glu199)... | [
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1,920,502 | 33510300 | 17,641 | Photosynthetic pigments (Chl a, Chl c, fucoxanthin) all varied with all factors through several interactions (Table 1, Supplementary Table S3). The content of Chl a in juvenile Macrocystis sporophytes was affected by temperature, location and trial through two-way interactions (Table 1), but unaffected by pCO2/pH. Temp... | [
1169
] | [
8
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565,394 | 34137515 | 39,191 | Can echocardiography and ECG discriminate hereditary transthyretin V30M amyloidosis from hypertrophic cardiomyopathy? | [
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67
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263,510 | 27929062 | 22,692 | The conservation of the buried cysteine residues, their location close to the Hha interaction site, and the fact that C18 in YmoB experiences similar oxidation processes as those observed in Hha suggest that this residue may be involved in the oxidation enhancement mechanism. However, the fact that a variant of YmoB wi... | [
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2,771,835 | 40463963 | 65,488 | 800 mg of each sample was prepared by adding 5 ml of methanol (80 % v/v; EMD OmniSolv LCMS Methanol, Sigma Aldrich, St. Louis, MO, USA) and 0.1 mul of internal standard (IS), a mix of 17 amino acids. Samples were vortexed for two minutes, centrifuged at 1000 rpm for 20 min, and the supernatants were transferred to mic... | [
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] | [
22
] | [
2
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594,394 | 21883982 | 35,845 | This is the first report of Griscelli syndrome type III (GSIII) in Arab pedigrees as well as a thorough cellular and biochemical study of epidermal GSIII melanocytes. All seven patients carried the same, previously reported, amino acid substitution in melanophilin (MLPH): p.R35W. We showed that, although endogenous lev... | [
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4,313,054 | 35400674 | 9,987 | Gene symbol Primer Sequences (5'- 3') Product size Accession number GAPDH F GTTCAACGGCACAGTCAAGGCAGAG 130 NM_001034034 R ACCACATACTCAGCACCAGCATCAC IL10 F GGCCTGACATCAAGGAGCAC 103 NM_174088 R CTCTTGTTTTCGCAGGGCAGA IL4 F ATCAAAACGCTGAACATCCTC 142 NM_173921 R TCCTGTAGATACGCCTAAGCTC IL17A F TCCACCGCAATGAGGACC... | [
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1,996,527 | 30366412 | 12,595 | Free and esterified cholesterol, as well as triacylglycerides (TG), were analyzed by GC-FID. The total amount of neutral lipids was unchanged between IDH1 WT and R132H cells, but the distribution of the molecular species was different. Indeed, we observed a decrease in esterified cholesterol in mutant cell counterbalan... | [
162
] | [
5
] | [
2
] |
2,336,036 | 29599605 | 27,405 | HCV NS5A is a phosphoprotein existing in two different forms: a basic phosphorylated NS5A, p56, and a hyperphosphorylatedNS5A, p58. It appears to play an important role in viral replication, since most of the adaptive mutations determined so far are located within the region of NS5A. The three domains in NS5A include: ... | [
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4,071,951 | 38753016 | 5,065 | The GNB3 gene codes for the beta 3 subunit of guanine nucleotide-binding proteins. A polymorphism C825T in exon 10 of the GNB3 (rs5443) gene has been identified. These nucleotide-binding proteins play a significant role in defining the cellular response to stimuli by integrating signals between receptor and effector pr... | [
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1,797,148 | 25187956 | 18,216 | The outer LAMP primer pair, designated F3 and B3, was initially tested for the amplification of S. mansoni DNA by a touchdown-PCR to verify whether the correct target was amplified. The PCR assay was conducted in 25 microL reaction mixture containing 2.5 microL of 10x buffer, 1.5 microL of 25 mmol/L MgCl2, 2.5 microL o... | [
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] | [
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4,523,422 | 18937046 | 24,076 | Km1 (mmol/L) Km2 (mmol/L) Turnover number (min-1) DMGDH 0.039 +- 0.010 15.4 +- 1.2 18.2 +- 1.7 DMGDH + 4 mumol/L THF 0.045 +- 0.011 1.10 +- 0.55 13.5 +- 1.8 DMGDH H109R 2.55 +- 1.7 - 0.600 +- 0.55 | [
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1,109,912 | 36353523 | 52,688 | ID virus isolate Nucleotide at indicated position along the fusion gene HRc 476 479 482 486 494 498 Codon 1426-1428 1435-1437 1444-1446 1456-1458 1480-1482 1492-1492 KU665482.1 LaSota.71.IR/2016 AAT AAT GAC AGA AAA ACA OK491971 Avian orthoavulavirus 1 isolate KN 14 AAT GAC (N479D) GCA (E482A) AAC ... | [
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4,790,256 | 21359411 | 0 | Acquired von Willebrand syndrome type 2A in a JAK2-positive essential thrombocythaemia-affected member of a large von Willebrand disease family with a novel autosomal dominant A1716P mutation. | [
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4,833,613 | 40298089 | 7,057 | Blood samples (N = 22) were collected from before drug administration to120 h after administration for each subject at the following time points: 0 h (immediately before dosing) and 0.5, 1, 1.5, 2, 2.5, 3, 3.5, 4, 4.5, 5, 6, 8, 9, 10, 11, 12, 24, 48, 72, 96 and 120 h after administration. A total of 4 mL of whole blood... | [
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3,965,051 | 34368464 | 33,807 | Successful targeted insertion was detected at the ES cell stage by long-range PCR (upstream primers: AGCCATTGCCTTTTATGGT & GCCCCTCTCAGGTTAATCCCAG, 2843 bp amplicon; downstream primers: TGTGCGCTATGACAGCTCCCTG and CGGGAGAAATGGATATGAAGTACTGGGC, 1557 bp amplicon).; DreamTaq Green PCR Master Mix (2X), #K1081 Thermo Fisher S... | [
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2,038,408 | 15305888 | 81 | BACKGROUND: Several studies have demonstrated an association of type 1 diabetes with specific alleles of HLA class II molecules, as with polymorphisms of insulin gene region. The aim of our study was to evaluate the interaction of insulin -2221 MspI polymorphism to type 1 diabetes susceptibility in connection with auto... | [
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3,967,584 | 33193720 | 27,142 | 7We replicated the results in a separate sample (N = 2,216) collected from China, but without available genotyping data. By using alcohol flushing reaction (i.e., a proxy to ALDH2 rs671) as IV, we found that alcohol consumption was also related to the lower risk of depression, consistent with our main MR results. Detai... | [
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3,414,666 | PMC12427569 | 9,922 | Activating mutations in KRAS or NRAS bypass the need for EGFR signaling by locking the RAF, MEK ERK pathway in a permanently active state. Similarly, the BRAFV600E mutation acts further downstream to provide a continuous growth signal independent of receptor activation. In parallel, alterations in PIK3CA or loss of PTE... | [
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1,597,274 | 32884031 | 13,973 | SNP rs2798631, suggestively associated with circulating FGF23 levels, is located within TGFB2 (Transforming growth factor beta-2), which is involved in cell proliferation, differentiation, inflammation and apoptosis. A recent study has demonstrated that TGF-beta2 directly enhanced FGF23 production in rat osteoblast-lik... | [
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791,262 | 37146086 | 22,431 | (A) Denaturing urea-PAGE gels showing assays of FEN, (B) FEND192N, or (C) Pol I activity on blunt duplex structures. The mean percent uncut substrate remaining from three replicates is quantified under the appropriate gel. Black bars represent standard deviation and asterisks symbolize significance: * p<0.05, ** p<0.01... | [
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405
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813,114 | PMC12874559 | 86,398 | The combination of CBD and IM produced characteristic responses in sensitive versus resistant K562 cells. In K-562S cells, a dose-dependent synergy was discovered. While certain low-dose combinations elicited antagonism, treatments with clinically relevant concentrations elicited strong synergy. These heterogenic effec... | [
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3,615,919 | 36591511 | 26,282 | In case 1 we observed the patient was diagnosed as the proband of the Lynch family at the age of 80 years; this is significantly older than the age generally observed in cases of the classical Lynch syndrome (<=50 years). Lynch syndrome caused by germline pathogenic variations in MSH6 can have a late onset and is often... | [
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2,972,063 | 35974058 | 31,399 | Finally, density functional theory (DFT), QTAIM and NBO calculations were employed to study binary systems' intramolecular and structural properties. Different kinds of DFT functional, including B3LYP-D3 (BJ), M062X and WB97X-D3 combined with two 6-311G (d,p) basis sets were used. The formation energies confirmed that ... | [
210
] | [
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] | [
2
] |
3,553,235 | 26437765 | 25,715 | Hypertension, smoking, blood lipids and obesity were the "environmental factors" selected for interaction analyses, as they are risk factors with large environmental impact for different diseases, especially cardiovascular diseases. We observed interactions between NOS3 SNP rs1800779 with HDL-C, triglycerides and obesi... | [
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] |
3,448,575 | 9585551 | 0 | Site-directed mutagenesis of Phe 97 to Glu in amicyanin alters the electronic coupling for interprotein electron transfer from quinol methylamine dehydrogenase. | [
29
] | [
13
] | [
2
] |
3,917,686 | 20802490 | 32,681 | For immunoprecipitation, cells were lysed in IP buffer (see above), centrifuged to remove cell debris, and incubated ~18 h at 4 C with 1 mug antibody. Complexes were precipitated with Protein A-sepharose or glutathione sepharose, as appropriate. Bound proteins were eluted by boiling in Laemmli sample buffer, centrifuge... | [
128
] | [
8
] | [
1
] |
454,420 | 34614421 | 34,349 | We also investigated multiple behaviors related to ASD circuits. First, we investigated cognitive inflexibility, sensory sensitivity, repetitive behaviors, and stereotypies across multiple assays. In the spontaneous alternation T-maze, Hets exhibited comparable percentage alternation as WT mice (with both different fro... | [
1447,
903
] | [
5,
2
] | [
4,
2
] |
5,420,548 | 21852679 | 4,893 | Data on women undergoing fertility treatment were obtained from CHS pharmacies' computerized database using the following anatomic therapeutic chemical classifications: G03G (gonadotropins and other ovulation stimulants), H01CA (gonadotropin-releasing hormones [GnRH]), and L02AE (GnRH analogs). Usually, the prescriptio... | [
262,
602,
566,
549,
281,
169
] | [
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] | [
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1
] |
825,588 | 35315933 | 30,648 | C___2530382_10 for rs800292, C___9626217_10 for rs1560833, and C___1366493_10 for rs11225395, Applied Biosystems, Thermo Fisher Scientific, Waltham, MA, USA | [
19,
82,
48
] | [
8,
10,
9
] | [
3,
3,
3
] |
508,455 | 37697232 | 64,335 | Vasav AP, Barvkar VT. Phylogenomic analysis of cytochrome P450 multigene family and their differential expression analysis in Solanum lycopersicum L. suggested tissue specific promoters. BMC Genomics. 2019;20. | [
58
] | [
4
] | [
2
] |
3,377,432 | 33846460 | 16,521 | The evolutionary relationships among the cisZOG proteins were determined using maximum likelihood (ML; Fig. 4, simplified Supplementary Fig. S2) and maximum parsimony (MP; Supplementary Fig. S2a,b) analyses based on multiple alignment, producing a phylogenetic tree depicting the relationships among all currently access... | [
1008
] | [
19
] | [
2
] |
2,846,276 | 41256051 | 63,953 | Calorimetric thermal unfolding measurements of WT and mutant RK were performed on a Nano-DSC (TA Instruments, New Castle, Delaware) at a protein concentration of 0.6 mg/mL in 20 mM HEPES pH 8.0, 150 mM NaCl, 0.5 mM TCEP. All samples were heated at a scanning rate of 1 C/min from 20 C to 100 C at 5 atm in the presenc... | [
61,
295
] | [
2,
6
] | [
4,
1
] |
916,615 | 25763819 | 23,968 | The findings of this study demonstrate that there are at least two regions of the mouse genome that modify the ALS phenotype in the G59S-hDCTN1 mouse. Some genetic modifiers of disease onset are located within the 16-53 MB proximal segment of chromosome 17 whereas modifiers of survival are located elsewhere. In order t... | [
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2,085,880 | 29336553 | 35,908 | In contrast, the pH-rate profiles of for all three cruzain substrates were characterized by essential unprotonated and protonated catalytic groups with and , respectively, consistent with neutral forms of the His and Cys species at the pH optimum of cruzain. Other studies described herein confirm the assignment of th... | [
850,
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446,
355
] | [
3,
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1,607,174 | 23023261 | 20,600 | X-ray diffraction data were processed using autoPROC with either mosflm or XDS as the indexing and integration program and then reduced further using the CCP4 suite of programs (see supplementary table 2) . The crystals belong to spacegroup P212121 with unit cell dimensions a=91.2A, b=110.7A, c=142.3A, and with two cop... | [
699
] | [
9
] | [
2
] |
1,595,587 | 22173670 | 30,676 | Moleculocytogenetic specification of chromosome 12 and NAV3 aberrations in colon cancer cell lines. The aberrant cells of lines CCL-230 (A-G) and CRL-2577 (H-J) most commonly showed three copies of chromosome 12 (A, H: centromere 12 green), with loss of NAV3 by specific bacterial artificial chromosome (BAC)-probes in o... | [
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4,498,690 | 23115189 | 5,945 | Cortical neurons maintained in vitro for 12-14 days or HEK293 cells were lysed in modified RIPA buffer (in mM, 50 Tris-HCl, pH 7.4, 150 NaCl, 1% NP-40, 0.25% sodium deoxycholate, 5 EDTA, 3 sodium vanadate, 1 PMSF, and proteinase inhibitors); following centrifugation, the supernatant was used for experiments and referre... | [
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3,763,243 | 20689704 | 6,297 | [La(NO3)2L](NO3) 3MeOH (1) Anal. Calc. for C23H34N7O14La: C, 35.80; H, 4.45; N, 12.71. Found: C, 35.96; H, 4.09; N, 12.57%. Selected IR data (cm-1): 3377 mw [m(O-H)], 3070 w [m(C-H)ar], 2980 w [m(C-H)al], 1759 m, 1733 m [nu 1 + nu 4 of the nitrate], 1641 s [m(C=N)], 1590 ms, 1572 m [ring stretching vibrations], 1492 ve... | [
487,
547
] | [
6,
7
] | [
1,
1
] |
1,175,934 | 38062361 | 2,720 | Staphylococcal biofilm development is a complex mechanism with three major stages: (i) initial attachment of S. aureus cells to biotic or abiotic surfaces, (ii) production of extracellular polymeric substances (EPS) such as polysaccharides, proteins, teichoic acids and extracellular DNA (eDNA), (iii) biofilm structurin... | [
688
] | [
16
] | [
2
] |
3,538,999 | 41327309 | 101,512 | T1-P15 A new Plasmodium vivax reference genome for South American isolates | [
3
] | [
5
] | [
2
] |
1,539,209 | 19147577 | 26,380 | The thyroglobulin (TG) gene cluster and shared haplotype in the 8q24 locus. The cluster consists of the large TG gene (48 exons total); the SLA gene encoded by the opposite strand in TG introns 41, 42 and 43; and three cDNAs encoded in introns of SLA. The relative positions of the SNP markers forming a shared haplotype... | [
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2,336,606 | 25078077 | 46,036 | FtsZ-K190V confers significant resistance to SlmA. At the high levels of SlmA induction where the FtsZ-K190V mutant is killed, the killing is no longer dependent on the presence of the plasmid containing SBS sites and appears to be due to interference with DNA segregation as suggested earlier. Interestingly, the K190 r... | [
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3,880,805 | 21583190 | 42,743 | D:H A D:H H A D A D:H A O1:H1 O3 0.82 1.99 2.802 (6) 171 O2:H2 O4 0.82 1.97 2.781 (4) 176 C50:H50C O7i 0.96 2.59 3.487 (10) 156 C68:H68B O10 0.96 2.39 3.247 (13) 148 C65:H65A Cg1 0.96 2.66 3.590 (6) 163 | [
20,
180,
100
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3,
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2,
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2,095,528 | 37745519 | 6,755 | Zymosan A from Saccharomyces cerevisiae (Sigma #Z4250) and MLi-2 from Merck (Tocris #5756) were used for these experiments as TLR2 inflammatory stimuli and LRRK2 kinase inhibitor respectively. For immunoblots, primary microglia from wild-type and G2019S-LRRK2 Tg mice were treated with 200mug/ml zymosan and 1muM MLi-2 f... | [
126,
254,
247
] | [
4,
5,
6
] | [
4,
4,
2
] |
632,374 | 39337676 | 30,987 | The PrimeScript II 1st Strand cDNA Synthesis Kit (6210A, TaKaRa, Japan) was employed for synthesizing the 1st strand of cDNA. HvPLATZ genes were amplified with gene-specific primers (File S7) using Phanta Max Master Mix (P525, Vazyme, China). The pYES2-NTB was linearized using KpnI-HF (R3142V, New England Biolabs, Ips... | [
288
] | [
6
] | [
2
] |
3,717,250 | 24348328 | 52,005 | Alpha-conotoxin BuIA[T5A;P6O]: a novel ligand that discriminates between alpha6ss4 and alpha6ss2 nicotinic acetylcholine receptors and blocks nicotine-stimulated norepinephrine release. | [
21
] | [
3
] | [
1
] |
4,616,463 | 34502116 | 77,076 | Changed conformation of mutant Tau-P301L underlies the moribund tauopathy, absent in progressive, nonlethal axonopathy of Tau-4R/2N transgenic mice | [
122,
31,
35
] | [
3,
3,
5
] | [
4,
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] |
821,317 | 30597163 | 41,342 | (A) Staining of chicken trachea with PR8 D190 and pig primary bronchus with PR8 D190E (B) Staining of tissues with PR8 D190 and PR8 D190E precomplexed with alpha-strep-tag mouse antibody and goat-alpha-mouse-HRP in a 4:2:1 molar ratio (C) Staining of tissue with PR8 D190 and PR8 D190E precomplexed with alpha-strep-tag-... | [
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424,365 | 31251605 | 15,657 | Y955 is located on the nucleotide binding O-helix and is proposed to be involved in dNTP selection. A957 is located on the connecting loop between the O- and O1-helix. Both helices undergo open-to-closed conformational changes when the correct dNTP is bound. | [
100
] | [
4
] | [
2
] |
5,470,587 | 17218168 | 84 | AP endonuclease (AP endo), a key enzyme in repair of abasic sites in DNA, makes a single nick 5' to the phosphodeoxyribose of an abasic site (AP-site). We recently proposed a novel mechanism, whereby the enzyme uses a key tyrosine (Tyr(171)) to directly attack the scissile phosphate of the AP-site. We showed that loss ... | [
1099
] | [
24
] | [
2
] |
4,534,780 | 21725312 | 60,031 | A structural basis for substrate specificities of protein Ser/Thr kinases: primary sequence preference of casein kinases I and II, NIMA, phosphorylase kinase, calmodulin-dependent kinase II, CDK5, and Erk1 | [
159,
58
] | [
10,
7
] | [
4,
2
] |
123,797 | 41350799 | 27,091 | Some variants such as the double mutants L163F/L167R and A26T/Q92K may be geared toward increasing the dimerization/multimerization probability of the PPE68 protein by increasing disordered regions. In both cases the Rg values were increased suggesting loose packing of the structures, but these mutants were the most st... | [
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782,344 | 39269178 | 10,626 | ALKG1202R/L1196M confers clinical resistance to lorlatinib and has been reported to confer resistance to 1G, 2G, and 3G ALK TKIs in vitro. Indeed, 1G, 2G, and 3G ALK TKIs inhibited recombinant ALKG1202R/L1196M with IC50 > 100 nmol/L. By contrast, NVL-655 potently inhibited ALKG1202R/L1196M with an IC50 of 1.8 nmol/L (F... | [
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1,982,894 | 28829913 | 5,078 | The first screening was performed on HIV-RT using a crystal structure of the enzyme co-crystallised with tenofovir diphosphate (PDB: 1T05). The original structure was used for the 6-modified ACV derivatives, while the substitution of a thymine by a cytidine was necessary for the 6-carbonyl derivatives. All the compound... | [
236
] | [
21
] | [
2
] |
1,395,118 | 7994644 | 94 | A simple and rapid PCR-RFLP method was used to detect a mutation hotspot of adenomatous polyposis coli (APC) gene. Among seven familial adenomatous polyposis (FAP) families, we found individuals in family FD carrying a mutated APC gene or a mutated APC allele with AAAGA deletion in codon 1,309 region. Two young affecte... | [
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249,
271,
667
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26,
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3,409,248 | 16495255 | 129 | Fluoroquinolone resistance in Streptococcus pyogenes has been described only anecdotally. In this study we describe two invasive ciprofloxacin-resistant S. pyogenes isolates (ciprofloxacin MICs, 8 mg/liter), one of which shows evidence of interspecies recombination. The quinolone resistance-determining regions of gyrA ... | [
450,
539,
1053
] | [
4,
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4
] | [
2,
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4,073,853 | 21942893 | 141 | Carbonyl-ene reactions, which involve C-C bond formation, are essential in many chemical syntheses. The formaldehyde-propene reaction catalyzed by several of the group 11 metal cations, Cu(+), Ag(+), and Au(+) exchanged on the faujasite zeolite (metal-FAU) has been investigated by density functional theory at the M06-L... | [
315
] | [
5
] | [
2
] |
4,037,927 | PMC12209099 | 20,082 | Brachydactyly type A1 caused by IHH mutation is an autosomal dominant disorder. In this study, we investigated a fetus with short limb deformities that could be attributable to a heterozygous mutation in the IHH gene. WES of the proband and his family members revealed a novel IHH c.331_333delCTG (p.Leu111del) mutation ... | [
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1,793,042 | 22832862 | 17,342 | The risk allele 'A' of rs17321515, originally associated with higher blood TC in GWAS for blood lipid levels was found to associate with shorter sleep length (P=0.04, OR=1.109, 95% CI=1.004-1.22 in dichotomous analysis). In addition, individuals having genotype major/major AA of rs17321515 had the shortest mean sleep l... | [
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3,364,169 | 33289952 | 23,617 | The parameter estimation revealed 79% lower CLactive,u in 521CC relative to 521TT, which was slightly lower than in vitro-estimated genotype effect based on comparison of CPI uptake in donors with 521TT and 521CC genotype (85.6 +- 6%; Table S3 ). Estimated CLactive,u in Asian-Indians was 42% lower than that in Caucas... | [
58,
197,
76,
207
] | [
5,
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] | [
1,
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] |
491,869 | 19716789 | 16,230 | We observed that moderate overexpression of Chk1 (approximately two-fold over the endogenous level) led to a G1/S-phase arrest, as indicated by reduced BrdU incorporation and decreased expression of the Chk1 target protein, Cdc25A (Supplementary Figure S6A and B, and data not shown). Interestingly, Schizoaccharomyces p... | [
44,
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415,
348
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1,381,076 | 26936824 | 165 | Most clinical reports have suggested that patients with congenital profound hearing loss have recessive mutations in deafness genes, whereas dominant alleles are associated with progressive hearing loss (PHL). Jackson shaker (Ush1gjs) is a mouse model of recessive deafness that exhibits congenital profound deafness cau... | [
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3,179,056 | 32093658 | 11,146 | GTEx tissue analysis found that for lean mass, two genes: NUDT3 and KLF5, were enriched in skeletal muscles (Figs. 1, 2), and they were also found in Westra et al. eQTL analysis for appendicular lean mass (Table 1), although not in whole body in the case of Westra et al. study (Table 2). Venn diagram in Fig. 1 is deriv... | [
58,
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18,080 | 2895667 | 171 | Three mutations in the uncB gene encoding the a-subunit of the F0 portion of the F0F1-ATPase of Escherichia coli were produced by site-directed mutagenesis. These mutations directed the substitution of Glu-219 by Gln, or of Lys-203 by Ile, or of Glu-196 by Ala. Strains carrying either the Lys-203 or Glu-196 substitutio... | [
202,
246,
539
] | [
25,
14,
14
] | [
2,
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] |
3,275,095 | 24835494 | 29,645 | Besides interferon-alpha, at present five nucleoside/nucleotide analogues (NAs) have been introduced worldwide for treatment of chronic hepatitis B (CHB) targeting the viral polymerase (reverse transcriptase, RT). Of these, lamivudine (LAM, 3TC) was the antiviral drug first approved in 1995. Although the introduction o... | [
1603,
1011,
1085
] | [
5,
5,
5
] | [
2,
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2
] |
2,224,684 | 35353868 | 33,979 | While this paper was under peer review, we were able to test binding of the single hits and multiple leads to SARS-CoV-2 B.1.1.529 (Omicron) S RBD. As predicted structurally, parental VHH-72-Fc and single mutants had very low dissociation constants (Table 2). Remarkably, the multiple mutants were able to rescue binding... | [
184,
382,
377,
372
] | [
6,
4,
4,
4
] | [
4,
2,
2,
2
] |
3,816,886 | 31012846 | 16,254 | Even though ESCs lack an IFN response, we wondered whether the differential resistance to viral infections were the result of abnormal IFN activation due to the absence of miRNAs. To test this hypothesis, we transfected the dsRNA analogue, poly(I:C) and the immunogenic G3-YSD DNA in Dgcr8 or Dicer deficient mESCs, and ... | [
284,
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479,
785,
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2,392,843 | 38786947 | 34,736 | Cytotoxic effects of guava leaves extracts (non-concentrated-NC and concentrated-C10 and C20) on A549 and Vero cells by sulforhodamine B assay, before and after gastrointestinal simulation or storage for 125 days. The results are expressed as IC50 (microg mL-1) and selectivity indices (SI = IC50 Vero/IC50 A549)). | [
81,
89
] | [
3,
3
] | [
1,
2
] |
3,548,443 | 35563794 | 24,013 | Reliable detection and quantification of senescence have been major challenges ever since its first description decades ago. Heterogeneous cell populations, combined with a strong dependency on cell type and senescence trigger, increased the difficulty of developing universal molecular markers. To date, the only genera... | [
644
] | [
9
] | [
2
] |
4,662,122 | 38778217 | 30,946 | We further probed the O-GlcNAcylation levels of c-Myc in different cell lines. We observed that c-Myc glycosylation levels were significantly higher in RKO, SW620, HT-29 and HCT116 cells compared to NCM460 cells (Fig. S8A). To investigate the functional role of c-Myc glycosylation, we depleted endogenous c-Myc with shR... | [
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4,082,495 | 11593097 | 150 | OBJECTIVE: This study examined the frequency of the Lys198Asn polymorphism in the endothelin-1 (ET-1) gene in women with pre-eclampsia and normal pregnancy; and its contribution to levels of plasma ET-1 and blood pressure. DESIGN AND METHODS: This was a retrospective study examining the frequency of the ET-1 Lys198Asn ... | [
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4
] |
1,298,529 | 36752629 | 13,451 | Crystallographically identified sodium-binding site residues are not essential for MurJTa function. (A) Spot dilution assay on various agar plates for MurJTa variants with changes in the sodium-binding site conducted as in Fig. 1. Haploid DeltamurJ::FRT E. coli strains complemented with plasmids encoding wild-type (lab... | [
1155,
408,
385
] | [
5,
5,
5
] | [
2,
2,
2
] |
1,592,978 | 35053197 | 30,940 | The cataract related mutation N188T in human connexin46 (hCx46) revealed a critical role for residue N188 in the docking process of gap junction channels | [
101,
30
] | [
4,
5
] | [
2,
2
] |
2,488,965 | 38168428 | 5,851 | Human NSCLC lines A549, H460, H1944, H1792, H23, H1299, H1975 and H1650 were purchased from LGC Ltd. H460 FLuc were purchased from PerkinElmer. H1299 FLuc were purchased from AMS biotec. A549 NRF2 knockout (KO), A549 KO-restored (KO-R), H1299 T80K and H1299 PLX317 were previously described . To pharmacologically activa... | [
192,
323,
378,
243
] | [
4,
4,
5,
4
] | [
4,
4,
4,
2
] |
1,826,207 | 35542722 | 41,990 | Complexes Solvent Vmax (M s-1) KM (M) kcat (h-1) Ref. [CoIII(HL3)2](OAc) H2O CH3OH (3.36 +- 0.339) x 10-5 (7.38 +- 0.597) x 10-4 1210 CH3CN (5.99 +- 0.198) x 10-5 (4.90 +- 0.597) x 10-4 2160 DCM (4.06 +- 0.571) x 10-5 (1.25 +- 0.229) x 10-3 1460 [CoII3(L4)(OAc)2(CH3OH)2] 2CHCl3 CH3CN 1.02 x 10-7 5.20 x 10-3 14... | [
1758
] | [
4
] | [
2
] |
490,593 | 33667550 | 50,507 | For molecular mass determination of the decameric species using SEC-static light scattering, reduced WT and C172W mutant were separated as above, except at room temperature with a flow rate of 0.4 ml/min and the column connected to a Viscotek 302 to 040 Triple Detector PGC/SEC system (Malvern). Molecular weights were c... | [
108
] | [
5
] | [
2
] |
4,858,516 | 38366023 | 17,909 | In this study, we examined the expression levels of four missense variants of SLC22A18 and their effects on the progression of colon cancer cells. We observed that three variants:p.Ala6Thr, p.Arg12Gln, and p.Arg86His:had significantly lower cell expression than the wild type, and these variants increased the proliferat... | [
78,
447,
764,
518,
529,
545,
179,
190,
206
] | [
8,
8,
8,
9,
10,
10,
9,
10,
10
] | [
4,
4,
4,
2,
2,
2,
2,
2,
2
] |
4,548,263 | 27448274 | 13,634 | To further investigate the role of the hydrogen bonds between K664 side chain and V667 backbone as well as S1117 side chain on stabilizing the complex, we performed additional MD simulations for the complex with K664A substitution in EctopoI. Simulations were run under the same conditions as for the wild-type (WT) RNAP... | [
62,
498,
212
] | [
4,
4,
5
] | [
2,
2,
2
] |
511,349 | 34349737 | 7,706 | Two hundred and fifty-five S. agalactiae isolates were analyzed. A total of 224 isolates were collected at the University Hospital of Tours, France, between 2002 and 2016; 26 were collected by the National Reference Center for Streptococci in 2012 and five were reference strains. Among the clinical isolates, 198 were i... | [
925
] | [
7
] | [
2
] |
2,630,707 | 18836447 | 5,098 | Human SBE2 sequences containing either the wild type SBE2(C) or variant SBE2(T) residue were tested for their ability to drive lacZ expression in transgenic embryos. Embryos carrying the wild type SBE2(C) reporter construct showed little variability in the spatial distribution of X-gal staining, recapitulating Shh expr... | [
6,
53,
72,
197,
312,
472,
654,
709,
959,
1121,
800
] | [
4,
4,
4,
4,
3,
4,
4,
4,
4,
3,
3
] | [
4,
4,
4,
4,
4,
4,
4,
4,
4,
4,
1
] |
479,537 | 35400206 | 21,533 | By directed enzyme evolution, the RhlI-4M1 mutant of Pseudomonas aeruginosa was generated and discovered to contain five amino acid substitutions crucial for its increased activities. We created a phylogenetic tree of this protein sequence with LuxI homologs in the present study; intriguingly, it was clustered with Rai... | [
528,
967,
625,
522
] | [
3,
24,
4,
4
] | [
2,
2,
2,
2
] |
420,624 | 37638884 | 44,753 | Dicentric chromatin bridges exhibit impaired formation of double-strand DNA ends at the bridge DNA next to the midbody. (A) Localization of RFC4 in BE cells with chromatin bridges. (B) Mean intensity of Rad17 at the bridge DNA next to the midbody on chromatin bridges of various lengths. Values in <20 muM were set to 1.... | [
140,
203,
494,
602,
637,
881,
888,
893,
901,
908,
918,
972,
981,
1233,
1486,
1593,
1741,
2296,
2309,
2509,
1196,
1177,
1045
] | [
4,
5,
5,
5,
8,
5,
3,
6,
5,
8,
9,
5,
9,
9,
3,
3,
3,
3,
3,
3,
5,
5,
5
] | [
4,
4,
4,
4,
4,
4,
4,
4,
4,
4,
4,
4,
4,
4,
4,
4,
4,
4,
4,
4,
2,
2,
2
] |
4,900,436 | 41365879 | 105,126 | Whole metaphase-arrested Xenopus egg extract and demembranated sperm nuclei were prepared as described. Female frogs were primed with 50 units of Folligon (Pregnant Mare Serum Gonadotrophin) 3 days prior to the eggs being required to increase the number of stage 6 mature oocytes and 2 days later, were injected with 500... | [
463
] | [
6
] | [
1
] |
3,999,591 | 22233601 | 12,903 | SNP ID Position F_U Associated allele OR (95% CI) p Other disease Location (LD)* Gene expression UK SLE rs1269852 32188169 0.11 C 2.68 (2.16 to 3.33) 2.48x10-19 TNXB-ATF6B (760 kb) rs3906272 31370903 0.04 A 2.84 (2.05 to 3.92) 2.95x10-10 HLA-C-HLA-B (22 kb) rs3129868 32512355 0.11 T 1.67 (1.29 to 2.14) 8.6... | [
167,
172,
248,
254,
328,
336,
424,
432,
448,
528,
730,
806,
819,
1077,
1083,
1154,
1168,
1233,
1246,
1250,
1002,
1098,
937,
1176,
471,
842,
751,
190,
367,
109,
548,
1020,
271,
644
] | [
4,
5,
5,
5,
5,
3,
5,
8,
5,
7,
4,
4,
4,
5,
4,
4,
4,
4,
3,
4,
5,
8,
9,
9,
9,
9,
8,
9,
9,
9,
9,
9,
9,
9
] | [
4,
4,
4,
4,
4,
4,
4,
4,
4,
4,
4,
4,
4,
4,
4,
4,
4,
4,
4,
4,
4,
3,
3,
3,
3,
3,
3,
3,
3,
3,
3,
3,
3,
3
] |
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