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5,363,900 | 25023634 | 30,825 | The GCKR rs780094 polymorphism is associated with elevated fasting serum triacylglycerol, reduced fasting and OGTT-related insulinaemia, and reduced risk of type 2 diabetes | [
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933,912 | 27336035 | 7,485 | The present results suggest an interaction between DRD2 rs1076560 and AKT1 rs2494732 genotypes on psychosis risk among cannabis users. Individuals carrying the DRD2 T allele or the AKT1 C allele have an increased psychosis risk in the context of cannabis use; however, the risk is especially increased in subjects who ca... | [
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209,805 | 20156327 | 7,985 | Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome | [
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2,307,113 | 35998911 | 9,826 | Genotyping of A2748G mutant mtDNA | [
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2,054,301 | 22504937 | 125 | Diaminoterephthalates with a maleimide moiety were synthesized and used as fluorescence dyes for sensing thiols. Whereas these "NiWa Blue" dyes showed no emission, the conjugate addition of a thiol to the maleimide group turned on a fluorescence at about 400 nm when irradiating the dye at 338 nm. The neuronal-calcium s... | [
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1,872,427 | 35897799 | 17,831 | FTO (rs9939609), GHRL (rs34911341), LEPR (rs1137101), polymorphisms which affect the amount of food consumed and the feeling of satiety; | [
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1,170,528 | 31223424 | 7,401 | Animal experiments were approved by the Committee of Medical Ethics and Welfare for Experimental Animals of Henan University School of Medicine (HUSOM-2017-189) in compliance with the Experimental Animal Regulations formulated by the National Science and Technology Commission, China. Animal studies were conducted as pr... | [
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859,791 | 32566830 | 23,306 | Optical rotations were measured on a Jasco P-2000 polarimeter (Easton, MD, USA) at 25 C in CHCl3. FTIR spectra were acquired on Bruker Vertex 70 (Bruker, Billerica, MA, USA) and PerkinElmer Frontier (Waltham, MA, USA) spectrometers. 1D- and 2D-NMR spectra were recorded on a Bruker AVANCE III HD 800 MHz spectrometer (... | [
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4,574,866 | 27170758 | 35,174 | In addition to their role in AAV DNA replication, the Rep proteins coordinate the temporal regulation of transcription of the viral genome during the AAV life cycle. In the absence of helper virus, the Rep proteins participate in repressing transcription from the three viral promoters, p5, p19, and p40, ensuring minute... | [
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729,295 | 37074909 | 10,218 | Cross Math1-Cre/Ptch1loxp/wt mice with Ptch1loxp/wt/R26R-GFP mice to obtain MPG mice. | [
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4,953,410 | 35626123 | 26,682 | Compound EGFR mutations were identified in 40 patients in the afatinib uncommon EGFR mutation database. Among these patients, 26 out of 40 had at least 1 major uncommon EGFR mutation. Patients were treated with afatinib as a first-line treatment, and in assessable patients, the ORR was 77%. The median duration of respo... | [
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3,539,336 | 39722885 | 28,040 | (A) Dynamic cross-correlation analysis (DCCA) of WT EFE. Differential DCCA (d-DCCA) comparison of the WT enzyme versus (B) A198V, (C) D191E, (D) E215A, and (E) R171A variants of EFE. The positive values shown in cyan represent the positively correlated motions. The negative values in pink represent anticorrelated motio... | [
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266,612 | 34680476 | 42,359 | Finally, even variants that alter FFA fluxes into the liver or their catabolism, such as the rs56225452 in fatty acid transport proteins (FATP5) or the rs13412852 in Lipin1 (LPIN1), may leverage IR and steatosis. | [
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249,957 | 35661827 | 15,717 | We identified significant (P < 5 x 10-8) rare variant (MAF < 0.01) associations in 25 genes, 15 of which had nonsynonymous variant or gene burden associations (Fig. 1b, Table 2, Supplementary Data 6 & 7). Five of the 15 genes also had significant common variant associations within 1 Mb (KLHDC7B, SYNJ2, GJB2, EYA4, and ... | [
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785,972 | 36569427 | 9,816 | The 10S structure consisted of residues 2-528 in chain A and residues 2-529 in chain B with the loop between residues 451-455 omitted in both chains. Although density is observed within this region, the main chain cannot be reliably modeled within this density. Numerous attempts were made to soak tryptamine into 10S cr... | [
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1,834,068 | 20480039 | 18,259 | As Asn9 is already able to interact with the 3'-hydroxy and 2'-phosphate group of the cofactors adenine ribose moiety in the wild-type enzyme, it is reasonable that changing the properties of this amino acids side chain from polar but uncharged (Asn) to charged (Asp, Glu) brings about the electrostatic repulsion needed... | [
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1,951,701 | 30944684 | 22,737 | Envelope protein mutations L107F and E138K are important for neurovirulence attenuation for Japanese encephalitis virus SA14-14-2 strain | [
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4,239,227 | 35156780 | 68,069 | CFBE mCherry-Flag-CFTR cells (WT or F508del variants) were cultured in DMEM high glucose (Corning 10-013-CV) supplemented with 10% fetal bovine serum (Gibco 10270), 10 mug/ml of blasticidin (Invivogen #ant-bl) and 2 mug/ml of puromycin (Invivogen #ant-pr-1) at 37 C and 5% CO2. CFBE cells constitutively expressing WT-/F... | [
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5,050,099 | 36155857 | 19,344 | However, the LEP gene had one variation (G281A) in intron 2 when compared with GenBank (acc. no. EU220012.1) and was submitted to GenBank with accession number OM418855 (Fig. 5B, C). On the other hand, exon 3 did not have any variation from the sequence on GenBank (acc. no. MH716185.1). All previous mutations have been... | [
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222,599 | 36232890 | 30,109 | Plasmid coding for HA-CDH1 was obtained from Dr Michele Pagano, and those coding for GFP-Ubi-K11 and GFP-Ubi-K11R from Dr Michel Bouvier. Plasmids coding for Stau155-HA3, STAU1Delta37-HA3, STAU1Delta46-HA3, STAU1Delta60-HA3, and STAU1Delta88-HA3 were previously described. RBD2-YFP, RBD2Delta51-YFP, RBD2Delta46-YFP, and... | [
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4,708,064 | 36116149 | 18,868 | Clade Genomic Frequency Nucleotide Protein Protein Mapped with Coding and Position Change Change Coordinate Non-Coding Region 19A 11083 425 GA, GT Synonymous, LF 37 NSP6 13730 374 CT AV 97 RdRp 28311 364 CT PL 13 Nucleocapsid 23929 360 CT Synonymous 789 Spike 6312 359 CT, CA TI, TK 1198 NSP3 19524 ... | [
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1,667,971 | 24196318 | 17,017 | (a) Schematic illustration of the device structure. The device includes a 20 nm thick permalloy film separated from the striplines by 50 nm of SiO2. The striplines are in an asymmetric coplanar waveguide configuration made of Cr (5 nm)/Ag (150 nm)/Pt (5 nm) with a signal width (S) of 3 mum and ground width (W) of 9 mum... | [
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5,451,625 | 26438795 | 72 | Helicobacter pylori exhibits a high level of intraspecies genetic diversity. In this study, we investigated whether the diversification of H. pylori is influenced by the composition of the diet. Specifically, we investigated the effect of a high-salt diet (a known risk factor for gastric adenocarcinoma) on H. pylori di... | [
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4,571,300 | 32708184 | 0 | The Lipid Receptor G2A (GPR132) Mediates Macrophage Migration in Nerve Injury-Induced Neuropathic Pain | [
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3,519,187 | 39268259 | 21,360 | Thrombophilia, hypofibrinolysis, the eNOS T-786C polymorphism, and multifocal osteonecrosis | [
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1,849,189 | 19040733 | 7,666 | The genetic selection model was calculated for the evolution of the 677C>T genotypes. The genetic selection could be classified as codominant or incompletely dominant and directional with the heterozygous genotype having an intermediate fitness. For this kind of selection, the most appropriate mathematical model is dq ... | [
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3,768,238 | 34203356 | 7,197 | The inverse-variance weighted method with random-effects was used as the main analysis. This method provides the most accurate estimate but is sensitivity to pleiotropy. Thus, we employed the weighted median approach and MR-Egger regression as sensitivity analyses. The weighted median method can generate consistent cau... | [
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4,943,118 | 28720660 | 39,942 | Because the WMD bears resemblance to PX domains, we finally tested whether residues predicted to be part of this domain were required for PI(3)P binding in vitro and for membrane localization in cells. We generated a R29A/F30A mutant version of the WMD fused to MBP and purified it alongside the wild-type MBP-WMD (Figur... | [
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2,333,632 | 34960755 | 25,056 | Similarly, GMTs against B.1.1.7 (955 for Pfizer and 1917 for Moderna) and B.1.429 variant with the L452R substitution (1063 for Pfizer and 1799 for Moderna) were comparable to those against WT(D614G). Consistent with previous observations, the B.1.351 variant (GMT 169 for Pfizer and 306 for Moderna) displayed ~7-fold l... | [
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54,515 | 38000896 | 57,908 | Overlapping of translated uORFs. A to C) Translational profiles of 3 CPuORF genes showing the overlapping of translated uORFs. The positions of CPuORFs (red boxes) and other uORFs (blue or teal boxes, depending on their reading frame) are indicated. In B) and C), zoom-ins of the overlapping region between the CPuORF an... | [
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1,339,319 | 39940106 | 18,338 | Pre-assembled signalling complexes are an emerging general feature of signal transduction. cAMP signalling is organised in nanodomains, with close coordination of cyclases, phosphodiesterases and cAMP receptors in complexes often nucleated by AKAPs. However, given that cyclases are the source of all cAMP signals, it mi... | [
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3,545,146 | PMC12897130 | 33,622 | Frequent carriage of pESI-like megaplasmids among S. Infantis supports the global pattern of MDR S. Infantis lineages reported across the Americas, Europe, and the Eastern Mediterranean. The pESI-like features observed in this study, including ESBL-associated determinants (e.g., blaCTX-M-65), IncFIB(K) replicons, and Q... | [
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2,854,228 | PMC12841848 | 91,920 | Whole-Exome Sequencing and Experimental Validation Unveil the Roles of TMEM229A Q200del Mutation in Lung Adenocarcinoma | [
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2,330,953 | 29315345 | 3,122 | Interestingly, SOX10 expression is required for efficient therapeutic targeting of the activating BRAFV600E mutation in melanoma. This BRAF mutation is found in approximately 50% of patients with advanced melanoma and causes constitutive activation of the Mitogen Activated Protein Kinase (MAPK) pathway. Targeted inhibi... | [
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1,304,256 | 31877994 | 30,405 | The signals comprising both potential and current traces were stored online and sampled at 10 kHz using an ASUS VivoBook Flip-14 touchscreen laptop computer (TP412U; Taipei City, Taiwan), which was equipped with a Digidata 1440A interface (Molecular Devices) for analog-to-digital/digital-to-analog conversion. During th... | [
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1,806,182 | 22787448 | 66,555 | Role of the S6 C-terminus in KCNQ1 channel gating | [
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2,823,559 | 39114506 | 18,215 | SNP PP.H0.abf PP.H1.abf PP.H2.abf PP.H3.abf PP.H4.abf rs1959910 0.04808632 0.9048905 0.001337023 0.025139612 0.02054654 rs34292801 0.46447663 0.4899215 0.006157673 0.006462019 0.03298217 rs4814813 0.01312701 0.956298 0.000171904 0.012505231 0.01789786 rs73088610 0.45102883 0.4911956 0.015389112 0.01673395 0.025... | [
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857,401 | 28401144 | 21,021 | The conservation of the [4Fe-4S] cluster in these mutant proteins indicates that these mutants may actively conduct the SP TpT repair. Considering that an alanine is only slight bigger than a glycine residue and position 168 is located at a flexible junction of a beta-strand and a peptide loop, we expect that the SPL G... | [
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778,008 | 37485173 | 5,942 | ECD is driven by somatic mutations of BRAF and/or other signaling molecules. No infectious or environmental cause of ECD has been identified in the literature, and there is no evidence to suggest that it is inherited. BRAF V600E mutation has been detected in approximately half of ECD patients. As a result, symptomatic ... | [
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3,187,061 | 33069768 | 30,224 | In summary, here we describe a new tumor suppressor protein function of AGGF1 and we propose a novel signaling mechanism of tumor suppression. We show, using in vivo, in vitro, and human cancer mutations, that AGGF1 is a potent inhibitor of proliferation of multiple types of tumor cells. Importantly, we show that three... | [
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811,315 | 41560006 | 8,080 | Time node Critical incident Laboratory/Imaging results Treatment measures 0 h after admission Emergency visit, ECG: STEMI Platelet 784 x 109/L troponin I normal BP 98/62 mm Hg Aspirin 300 mg,Clopidogrel 300 mg heparin 2 h after admission TroponinI:4.75 ng/mLECG: STEMI Thrombus in the distal middle segment of the ri... | [
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3,011,337 | 16738139 | 14,331 | The PS1betaH and hydrophobic loop form a ringed array in the central channel of T-antigen, through which DNA is proposed to thread as it is unwound. Wild-type E1HD bound ssDNA to a greater extent in the presence of ATP (ATP/Mg2+; herein referred to simply as ATP) compared with its absence (Figure 5a, lanes 2-4, top com... | [
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2,885,309 | 34191960 | 48,362 | Communication from the Commission Temporary Framework for State Aid Measures to Support the Economy in the Current COVID-19 Outbreak 2020/C 91 I/01, C/2020/1863 [2020] OJ C 91I/1-9. | [
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5,064,421 | 26748988 | 4,455 | Patient# Gender Age Inheritance Genetic mutation BCVAa (decimal) fERGa (mV) 1 M 38 Autosomal recessive CERKL R257X (homozygous) 0.39 0.30 2 M 28 Autosomal recessive Unknown 0.17 0.09 3 M 59 Autosomal dominant Unknown 0.85 0.58 4 M 69 Autosomal recessive CRX V242M (heterozygous) 0.32 0.12 5 F 48 Autosomal domi... | [
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2,218,961 | 32575418 | 2,837 | Pancreatic neuroendocrine neoplasms (pNENs) are the second most common malignancies of the pancreas and mainly occur in elderly patients. Their incidence of currently 1-2/100000 inhabitants in the United States and Europe is steadily increasing. A recent multicenter study in Austria has shown 5 and 10 year survival rat... | [
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364,488 | 29330839 | 39,772 | Association between smoking, nicotine dependence, and BDNF Val66Met polymorphism with BDNF concentrations in serum | [
86,
54,
59
] | [
4,
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8
] | [
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3,853,935 | 34857772 | 22,643 | Using two-sample MR, we confirm a significant causal association between serum CD33 (myeloid cell surface antigen CD33) and Alzheimer's disease (AD; BETA = 0.0091; SE = 0.0017; inverse variance-weighted [IVW] Padj = 3.62 x 10-4) (Figs. 3 and 4a). The role of CD33 in AD is further affirmed by positive colocalisation bet... | [
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4,498,207 | 38439078 | 86,575 | Depletion of mast cells and macrophages impairs heterotopic ossification in an Acvr 1(R206H) mouse model of fibrodysplasia ossificans progressiva | [
86
] | [
5
] | [
2
] |
1,047,117 | 35055209 | 14,086 | Figure 4a,b represent the current-voltage (I-V) curves of the different types of devices under dark and light illumination of 0.1 mWcm-2, respectively. In addition to the single layer (D1) and trilyer (D4) devices, we added two more devices for comparison, i.e., the bilayer perovskite devices with glass/GO/Perovskite (... | [
466
] | [
8
] | [
2
] |
3,175,376 | 32064097 | 23,787 | IL-1alpha and IL-1beta, two members of IL-1, have a common receptor with shared SNPs (IL-1alpha-889C>T and IL-1beta-3737C>T). Our results show that C:T polymorphisms of the IL-1alpha-889C>T and IL-1beta-3737C>T were associated with MM risk. IL-10 is one of the well-investigated pro-inflammatory cytokines. It is documen... | [
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661,023 | 19877176 | 105 | 3-M syndrome is an autosomal recessive disorder characterized by severe pre- and postnatal growth retardation and minor skeletal changes. We have previously identified CUL7 as a disease-causing gene but we have also provided evidence of genetic heterogeneity in the 3-M syndrome. By homozygosity mapping in two inbred fa... | [
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4,630,852 | 20339440 | 3,329 | The HA-tagged NUP98-DDX10 cDNA was generated by PCR and subcloned into EcoRI/XbaI sites of pTracer-CMV/Bsd. The NUP98-DDX10/3Q mutant was created by replacing an EagI/HindIIII fragment with a synthetic fragment containing 3 arginine to glutamine mutations in the YIHRAGRTAR motif. HA-tagged NUP98-DDX10 and NUP98-DDX10/3... | [
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2,459,357 | 30105048 | 25,122 | HIV Gene Position (amino acid residue) SNP (Chromosome: bp) P-value PR 35(E) rs2596477 (6:31327723) 8.503e-28 35(D) rs17199328 (6:31322395) 4.083e-25 12(T) rs75344417 (6:31429439) 1.559e-15 12(A) rs116855165 (6:31059097) 1.266e-11 37(N) rs2596477 (6:31327723) 3.370e-14 93(I) rs9378249 (6:31327701) 1.95... | [
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5,273,412 | 22771212 | 25,240 | While our studies revealed an unexpected role for Sgf11 in maintaining the overall folding of the DUBm into a compact complex, it is possible that the Sgf11-ZnF also contributes to Ubp8 activity by stabilizing the catalytically competent configuration of the active site through interactions with loops L2. We were unabl... | [
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5,188,519 | 34680268 | 23,383 | Sarcomatous transformation of a conventional GCTB (secondary malignant GCTB) is a rather uncommon phenomenon accounting for an incidence of 2.4% of all GCTB cases. Most cases occur after radiotherapy, although occasionally malignancy may arise subsequent to denosumab treatment. The malignant part of the otherwise conve... | [
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3,033,614 | 28224001 | 17,410 | Gene name Gene ID* Nucleotide level Protein level PmLEA8 Pm026682 r.135A > C r.292_396dup r.646_699dup Q45H D98_T132dup P216_T233dup PmLEA10 Pm026684 r.93G > C r.461A > G r.513G > C D154G PmLEA19 Pm020945 No No PmLEA20 Pm021811 r.266A > G r.416C > A r.537T > C r.609T > G N89S T139K PmLEA29 Pm006114 r.336C > T... | [
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4,843,180 | 39766603 | 66,325 | Substitution of lysine for isoleucine at the center of the nonpolar face of the antimicrobial peptide, piscidin-1, leads to an increase in the rapidity of bactericidal activity and a reduction in toxicity | [
16
] | [
21
] | [
2
] |
1,613,033 | 28607813 | 104 | Bone morphogenetic proteins (Bmp) are well-known to induce bone formation following chondrogenesis, but the direct role of Bmp signaling in the osteoblast lineage is not completely understood. We have recently shown that deletion of the receptor Bmpr1a in the osteoblast lineage with Dmp1-Cre reduces osteoblast activity... | [
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583,470 | 36032194 | 21,459 | TRPA1 is a heat-sensitive ion channel and contributes to thermal detection and thermotaxis behavior in reptiles. We performed electrophysiological and laser irradiation experiments to examine divergence between wild-type and mutant TRPA1 (ie, with three T. baileyi-specific replacements) in response to heat. Figure 5A s... | [
805
] | [
6
] | [
1
] |
384,402 | 21773006 | 48,901 | To identify common polymorphisms, extensive sequencing of the Apo A5 interval in humans has been performed. A set of 4 common polymorphisms (SNPs1 through 4; also named 259T/C, IVS3+476G/A, -1131T/C, and -12,238T/C, resp.) were first identified within the human Apo A5. Statistical analysis indicated that the minor alle... | [
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1,911,749 | 34324310 | 33,294 | In previous studies, we attributed the inability of the Y75H holo-HasAp to activate the CSS cascade to the potential of a stronger bis-His ligation. In an effort to further understand the significance of the His-Tyr motif in controlling the release of heme to HasR, we performed spectroscopic and structural analysis of ... | [
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2,427,562 | 24207128 | 37,832 | Reexamination of the role of the leucine/isoleucine zipper residues of phospholamban in inhibition of the Ca2+ pump of cardiac sarcoplasmic reticulum | [
33
] | [
18
] | [
2
] |
669,343 | 11500821 | 80 | The ability of specific virally encoded proteins to down-regulate MHC class I molecules may enable infected cells to elude killing by CTL. In the case of HIV-1, Nef appears to be responsible for this effect. Thus, interfering with Nef-induced MHC class I down-regulation would be a strategy for increasing HIV-1-specific... | [
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1,952,791 | 19905033 | 32,337 | Channel activity was assayed by TEVC for A/M2 channels expressed in Xenopus oocytes. Responses in the presence of various concentrations of an inhibitor (I) were normalized to the current evoked by application of the activating (pH 5.5) solution without inhibitor (I0). The experimental data are the average of three ind... | [
521,
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630
] | [
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] | [
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847,261 | 38813459 | 7,565 | The total fat of Zhenba Bacon was extracted to measuring the peroxide value (POV) and acid value (AV). Take 5 g samples of Zhenba bacon from different periods (M, S8D, F16D and F32D), homogenize the tissue with a 2:1 chloroform-methanol mixture, and extracts were washed with 0.2 volumes of water or the appropriate salt... | [
168,
177
] | [
4,
4
] | [
2,
2
] |
3,188,729 | 31921875 | 23,776 | Associations of TM6SF2 167K allele with liver enzymes and lipid profile in children: the PANIC Study | [
16,
23
] | [
6,
4
] | [
4,
2
] |
2,331,811 | 33597243 | 1,336 | Wnt/beta-catenin signaling is required for many cell fate decisions in animal development and adult tissue homeostasis. Misregulation of the pathway has been linked to many cancers and other human pathologies. This pathway is centered around the stability of beta-catenin. In the absence of Wnt stimulation, beta-catenin... | [
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3,803,481 | 19245693 | 20,967 | To investigate the effect on a population-based level, analyses of obesity-related traits were moreover performed in the population-based Inter99 cohort. The association with body weight and height remained significant for CTNNBL1 rs6020846, while no associations were demonstrated for FDFT1 rs7001819, Additional file 2... | [
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5,332,507 | 32341402 | 28,092 | Single Nucleotide Polymorphism (SNP) genotyping was used on all included human samples. Allelic discrimination method was performed using TaqMan assays on an ABI Step-One Plus (Applied Biosystems, Foster City, CA) real-time PCR instrument according to manufacturer's instruction. Pre-designed SNP Genotyping Assay probe... | [
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3,060,434 | 28594932 | 28,192 | Slower kinetics of RNA synthesis inhibition by an NS5A inhibitor for H77S.3 compared to H77D. | [
88
] | [
4
] | [
2
] |
1,364,441 | 40564901 | 29,058 | L-ASNase TsAI (GenBank accession No. WP_015849943.1) was heterologously expressed in E. coli cells using synthetic gene tsA_mod (GenBank accession No. MW981255) inserted into the pET-28a(+) vector. TsAID54G/T56Q mutant was designed and constructed as previously described. | [
207
] | [
4
] | [
2
] |
3,105,303 | 36506180 | 44,607 | Sequence alignment between KirBac1.1 and other Kir channels is shown in Figure 6. Many residues examined above are partially or completely conserved, implying relevance to hKir channels (Figure 6B-D). Q92 and D115 are not conserved in other channels. Since activity upon mutation to alanine was not significantly impacte... | [
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2,980,226 | 31363383 | 52,957 | (a) Reaction scheme of pairwise addition of p-H2 to allyl 1-13C-pyruvate in CD3OD followed by polarization transfer to 13C nuclei (HA and HB are two atoms from the same p-H2 molecule, cat. = [Rh(NBD)(dppb)]BF4). (b) Reaction scheme of the competing process of norbornadiene hydrogenation with p-H2. (c) 1H NMR spectrum a... | [
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1,757,472 | 36457028 | 26,515 | To test this hypothesis, we first demonstrated the direct relationship between HPV16 early genes and the expression of c-Rel, p65, p50 coding genes Rel,Rela and Nfkappab1. Overexpression and shRNA vectors were constructed respectively to modulate HPV16 E5, E6,and E7 which expressed separately from the corresponding ect... | [
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2,239,572 | 32520643 | 36,662 | The CRM1(E571K) mutation has been found in a variety of cancer types, with enrichment in advanced hematologic diseases. We examined the subcellular localization of 4E-T in tumor cells from CLL patients with and without a heterozygous E571K CRM1 mutation (Supplemental Figure 5). Patient samples across a range of cytogen... | [
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5,436,114 | 19290710 | 49,896 | Nutrition stage PCa Cb Pc Ad Me M(SD) M(SD) M(SD) M(SD) M(SD) Pair comparisons Linear termF = Quadratic termF = Cubic termF = Fourth-orderterm F = Behavior: Portions of Fruit and vegetables per day 2.95 (1.77) 3.10 (3.14) 3.80 (2.65) 5.14 (2.49) 6.79 (10.12) PC = C = P < A < M 125.46** 10.14** 0.03 0.03 Int... | [
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651
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] |
598,967 | 31551747 | 14,210 | A ball-screw type linear motion module (RS-075N-Z05PR, Robostar, South Korea) was combined to a 100 W AC servo motor (APM-SA01ACN2, LS Mecapion, South Korea) to build the linear actuator. The motor includes an electromagnetic brake to fix the position of the handle. The maximum stroke of the module was 400 mm, which wa... | [
96
] | [
5
] | [
2
] |
5,109,761 | 36477686 | 19,301 | Histological and immunohistochemical features of xenotransplanted tumor, inoculated cloned cells with V595E ( +) or V595E ( -) | [
102,
116
] | [
5,
5
] | [
2,
2
] |
5,326,583 | 35153790 | 9,494 | Total protein was extracted from samples using RIPA buffer (P0013C, Beyotime) containing 1% phosphatase and protease inhibitors (P1206, Applygen) following the instructions. The nuclear and cytoplasm protein fractions were isolated using the NE-PER Nuclear and Cytoplasmic Extraction Reagents (78,835, Thermo Scientific)... | [
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1,435,615 | 38510292 | 27,056 | The initial treatment primarily focuses on weight reduction through lifestyle modifications and has a hemoglobin A1C target of <7%. When pharmacotherapy is initiated, metformin is typically first line for both children and adults, with alternative or additional medications considered based on comorbidities, response, a... | [
113
] | [
3
] | [
1
] |
4,480,690 | 39091725 | 42,955 | UU2612 transformant colonies carrying mutant pRR53 derivatives were transferred with toothpicks to T swim plates and incubated at 32.5 C for 6-7 hours. | [
135
] | [
9
] | [
1
] |
2,053,622 | 38658600 | 3,143 | Two of the most distinct SBS signatures with respect to their trinucleotide contexts are signatures SBS2 and SBS13. These signatures were identified already in the breast cancer study by Nik-Zainal et al. and have been associated with the activity of APOBEC cytidine deaminases (APOBEC mutagenesis). APOBEC mutagenesis h... | [
25,
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791,
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1,370,719 | 21482677 | 0 | Luminal expression of PIK3CA mutant H1047R in the mammary gland induces heterogeneous tumors. | [
22,
36
] | [
6,
6
] | [
4,
2
] |
3,877,719 | 27279750 | 16,781 | Allelic and genotypic distributions of rs3024974 in the study population are shown in Table 2. The genotype distribution of the rs3024974 was in Hardy-Weinberg equilibrium in the controls (P = 0.43) but not in the malaria cases (P = 0.00018). | [
39,
128
] | [
9,
9
] | [
3,
3
] |
3,183,102 | 28773413 | 11,258 | A combination of analytical techniques was used allowing the full characterization of the g-C3N4-TiO2 samples produced. These techniques included XRD using a Siemens D 500 X-ray diffractometer (Siemens, Germany) with the diffraction angles scanning from 2theta = 20 -80 , using a Cu Kalpha radiation source. XRD was util... | [
166
] | [
7
] | [
2
] |
2,264,486 | 35236987 | 31,329 | ESI-MS experiments were performed using Elite hybrid linear ion trap-orbitrap mass spectrometer equipped with a heated-electrospray ionization (HESI) source (Thermo). All solutions for ESI-MS samples were prepared using LC-MS grade water (JT Baker). The concentrations of (AB)2 dimers were adjusted to 5 muM in 20 mM NH4... | [
1232,
535
] | [
5,
6
] | [
2,
2
] |
5,368,707 | 36831384 | 57,116 | Interaction of E3 Arkadia with wt UbcH7 and UbcH7 K96S mutant. (a) Diagram of the total CSPs measured at a 1:2 molar ratio (saturation point) for 15N Ark RING/14N wt UbcH7, *: represents disappeared residues, +: represents residues with no information. (b) Ark RING mapping (PDBid: 2KIZ) after the addition of UbcH7 (res... | [
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2,
2
] |
4,672,033 | 34953453 | 27,876 | The GABAA agonistic activity of MG has also been reported to have antiepileptic and alcohol detoxification effects, such as benzodiazepine. Pretreatment with MG attenuated picrotoxin- and pilocarpine-induced seizures at both behavioral and electroencephalogram levels. Pretreatment with a GLO1 inhibitor also alleviated ... | [
4,
289,
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1,842,265 | 37863881 | 21,947 | We further employed hydrogen-deuterium exchange mass spectrometry (HDX-MS) to elucidate the protein conformation of GuApiGT, and L369/H373Q and I136T/L369/H373Q mutants in the solution state. The peptide coverage was 90.1% (Supplementary Figs. 133, 134). Compared with the wild type, peptide L363-D372 of the mutants sho... | [
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2,720,280 | 39043961 | 32,437 | RCP analysis of two independent Hi-C experiments revealed consistent alterations in chromatin interactions in K202R mutant cells compared to WT cells, though these alterations were less pronounced than those observed in K202Q mutant cells. Notably, no evident changes were consistently observed in the aggregate intensit... | [
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469,241 | 21752155 | 24,524 | Is there an association between GNbeta3 C825T genotype and lower functional gastrointestinal disorders? | [
40
] | [
5
] | [
1
] |
1,921,394 | 26060510 | 22,691 | Recent studies have demonstrated the power of combining the CRISPR-Cas9 system with well-studied conditional mouse models of cancer. Notably, a somatic genome engineering approach that combines Cre-dependent somatic activation of KrasG12D with CRISPR-Cas9-mediated genome editing of tumor suppressor genes has been shown... | [
699,
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269,276 | 18662000 | 6,950 | Calculations are based on the crystal-lographic structure of Bacillus halodurans RNase H complexed with the hybrid RNA DNA substrate as in the D192N mutated conformation (pdb code 1ZBL, 2.2 A resolution). Although the mutant enzyme is completely inactive, D192N substitution supposedly does not significantly affect the ... | [
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2,646,211 | 33746731 | 86,989 | Mutation-specific strategies would require new drugs that are capable of reversing some or all of the gating changes of Ca2+-channel GOF mutations. As a proof-of-concept it has already been shown that the tert-butyl dihydroquinone (BHQ) can modulate Cav2.1 channels in a manner that oppose altered channel gating of the ... | [
250,
120,
564,
335
] | [
6,
4,
5,
5
] | [
4,
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2,
2
] |
3,365,214 | 34677122 | 16,640 | The C2 vs C4 plot enables visualization of all possible evolutionary paths by joining the stepwise mutations from DmelIr75a to DmelIr75aT289S,Q536K,F538L. Most receptor variants are plotted close to the straight line (i.e., the shortest path) that joins the initial and final state, with the DmelIr75aF538L single mutant... | [
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142,
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] |
2,245,973 | 33473249 | 12,674 | Ripretinib has been studied preclinically across a broad range of models, including transfected CHO or Ba/F3 cells expressing KIT or PDGFRA mutants, primary human GIST cell lines and sublines, GIST xenografts and patient-derived xenografts (PDX). Overall, ripretinib and ripretinib active metabolite DP-5439 showed signi... | [
126,
133,
390,
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872,
879
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3,
6,
3,
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6,
5
] | [
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2
] |
555,230 | 33342090 | 7,115 | To generate GD1 patient-derived iPSCs, skin fibroblasts of the patient (29 years, male, GM00372) were obtained from the NIGMS Human Genetic Cell Repository at the Coriell Institute for Medical Research. The donor subject is a compound heterozygote for the following mutations: one allele carries a single-base mutation (... | [
336,
764,
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320,
394,
417,
476
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3,
4,
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7,
21,
5,
29
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4,
1,
2,
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1
] |
1,769,852 | 33372419 | 5,227 | A total of 99 p53-mutated and 99 EGFR-mutated NSCLC patients were selected from our database to explore whether hOGG1 Ser326Cys polymorphism might be associated with the occurrence of p53 and EGFR deletion mutations. The selection procedure is outlined in Fig. 1. The hOGG1 Ser326Cys polymorphisms in adjacent normal lun... | [
14,
33,
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268,
457,
649,
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274
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2
] |
4,757,851 | 40259053 | 14,461 | a Afatinib decreases the level of GTP-bound Rheb in PC9 and HCC827 cells. PC9 and HCC827 cells treated with or without 25 nM erlotinib or 25 nM afatinib for 12 h, were subjected to immunoprecipitation using Rheb-GTP agarose and analyzed by western blotting. b The Rheb-D60V mutant preferentially interacts with endogenou... | [
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2,639,709 | 29848757 | 7,389 | Detection of tumour EGFR mutations in plasma. EGFR mutation status in tumour samples was documented in the clinical record for 43 patients (Appendix Table S1), of which 38 had verified hotspot activating mutations (deletion in exon 19 for 23 patients and the L858R mutation for 15 patients), three patients had other mut... | [
20,
46,
330,
454,
259
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4,
4,
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4,
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2
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End of preview. Expand in Data Studio
Seed NER Dataset
This dataset was derived from Pubtator3 and verified for correctness by GPT 5.2. It contains close to 1,000 rows of text with entity annotations. The dataset is intended for research and development in protein and DNA mutations, SNP identifiers and other genetic variants.
Source
dataset_path:data/Seed Dataset/pubtator3_mutations_10k.jsonlpatch_responses_path:data/Seed Dataset/responses_gpt5.2_10k.jsonlgenerated_at_utc:2026-02-26 23:27:36Z
Schema
id(int64)text(string)offsets(list[int32])lenghts(list[int32])entity_types(ClassLabel sequence)
Entity Labels
CopyNumberVariant, DNAMutation, ProteinMutation, SNP
Size
- rows: 7565
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