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  1. 197701
    “…In this cross-sectional and comparative study among ART-experienced ALPHI in Yaoundé-Cameroon, HIV-1 RNA was measured by Abbott Real-time PCR; CD4 cells were enumerated using flow cytometry; serum cytokines were measured by ELISA; HIV-1 proviral DNA was genotyped by Sanger-sequencing; and archived drug resistance mutations (ADRMs) were interpreted using Stanford HIVdb.v9.0.1. …”
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    Inflammatory profile of vertically HIV-1 infected adolescents receiving ART in Cameroon: a contribution toward optimal pediatric HIV control strategies
  2. 197702
    “…CONCLUSIONS: HCAs are particularly rare in children with liver tumors, and risk factors for the development of HCAs in children include sex hormone imbalance, obesity, Fanconi anemia (FA), glycogen storage diseases (GSDs) type I, III, and IV, galactosemia, immunodeficiency, congenital portosystemic shunts (CPSS), cardiac hepatopathy status-post Fontan procedure, Hurler syndrome, familial adenomatous polyposis, germline HNF1A mutations, and maturity-onset diabetes of the young type 3. …”
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    Hepatic adenoma in a 7-year-old girl: a case report and literature review
  3. 197703
    “…Only non-nucleoside reverse transcriptase inhibitor-associated mutations were identified on resistance testing. (K103N, E138K, Y118H). …”
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    Tenofovir diphosphate in dried blood spots and HIV-1 resistance in South Africa
  4. 197704
    “…BACKGROUND: Evolving mutations of the novel coronavirus continue to fuel up the pandemic. …”
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    Adipose-derived, autologous mesenchymal stem cell therapy for patients with post-COVID-19 syndrome: an intermediate-size expanded access program
  5. 197705
    “…RESULTS: Compared with control, CBX4 overexpression in OA chondrocytes decreased DPP4 expression and SASP secretion and increased chondrocyte proliferation confirming CBX4 senomorphic effects on primary human chondrocytes. Point mutations of the chromodomain domain (CDM, involved in chromatin modification) alone were sufficient to partially block the senomorphic activity of CBX4 (p16(INK4A) and DPP4 increased, and EdU decreased) but had minimal effect on SASP secretion. …”
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    Synergistic roles of CBX4 chromo and SIM domains in regulating senescence of primary human osteoarthritic chondrocytes
  6. 197706
    “…RESULTS: A total of 1006 sequences were sequenced successfully, of which 61 (6.1%) showed evidence of TDR. The most common mutations were K103N (2.3%), E138A/G/Q (1.7%) and V179D/E (1.2%). 12 HIV-1 genotypes were identified, with CRF07_BC being the major genotype (43.3%, 332/767), followed by CRF01_AE (33.7%, 339/1006). 444 (44.1%) pol sequences formed 856 links within 120 transmission clusters in the network. …”
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    HIV-1 drug resistance and genetic transmission network among newly diagnosed people living with HIV/AIDS in Ningbo, China between 2018 and 2021
  7. 197707
    “…BACKGROUND: Tuberous sclerosis complex (TSC) is an inherited neurocutaneous disorder caused by mutations in the TSC1 or TSC2 genes, with patients often exhibiting neurodevelopmental (ND) manifestations termed TSC-associated neuropsychiatric disorders (TAND) including autism spectrum disorder (ASD) and intellectual disability. …”
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    Translatome analysis of tuberous sclerosis complex 1 patient-derived neural progenitor cells reveals rapamycin-dependent and independent alterations
  8. 197708
    “…METHOD: HIV-1 pol sequences from studies conducted between 2003 and 2018 among ART-naïve Ethiopian individuals were retrieved from GenBank and analyzed for the presence of PDR mutations (PDRM) along with the analysis of HIV-1 variant dynamics. …”
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    Trends in HIV-1 pretreatment drug resistance and HIV-1 variant dynamics among antiretroviral therapy-naive Ethiopians from 2003 to 2018: a pooled sequence analysis
  9. 197709
    “…A vector space model type data transformation technique was designed to build consistently homogeneous new datasets containing, as predictive features, calls for somatic point mutations and copy number variations at chromosome arm-level, thus allowing the use of the XGBoost classifier models. …”
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    Classification of tumor types using XGBoost machine learning model: a vector space transformation of genomic alterations
  10. 197710
    “…METHODS: Five familial AD mutations (5 × FAD) mice received EA treatment at Baihui and Shenting points for 4 weeks. …”
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    Electroacupuncture promotes neurogenesis in the dentate gyrus and improves pattern separation in an early Alzheimer's disease mouse model
  11. 197711
    “…This analysis focussed on secondary RDT end points: changes in bi-dimensional tumour measurements from baseline after 12 weeks and overall tumour responses (WHO criteria) at week 24, progression-free survival (PFS), safety and biomarkers (BRAF, KRAS and NRAS mutational status). Of 37 melanoma patients treated during the run-in phase, 34 were evaluable for response: one had ⩾25% tumour shrinkage and remained on open-label sorafenib; six (16%) had <25% tumour growth and were randomised (placebo, n=3; sorafenib, n=3); and 27 had ⩾25% tumour growth and discontinued. …”
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    Sorafenib in advanced melanoma: a Phase II randomised discontinuation trial analysis
  12. 197712
    por Alton, Eric W F W, Armstrong, David K, Ashby, Deborah, Bayfield, Katie J, Bilton, Diana, Bloomfield, Emily V, Boyd, A Christopher, Brand, June, Buchan, Ruaridh, Calcedo, Roberto, Carvelli, Paula, Chan, Mario, Cheng, Seng H, Collie, D David S, Cunningham, Steve, Davidson, Heather E, Davies, Gwyneth, Davies, Jane C, Davies, Lee A, Dewar, Maria H, Doherty, Ann, Donovan, Jackie, Dwyer, Natalie S, Elgmati, Hala I, Featherstone, Rosanna F, Gavino, Jemyr, Gea-Sorli, Sabrina, Geddes, Duncan M, Gibson, James S R, Gill, Deborah R, Greening, Andrew P, Griesenbach, Uta, Hansell, David M, Harman, Katharine, Higgins, Tracy E, Hodges, Samantha L, Hyde, Stephen C, Hyndman, Laura, Innes, J Alastair, Jacob, Joseph, Jones, Nancy, Keogh, Brian F, Limberis, Maria P, Lloyd-Evans, Paul, Maclean, Alan W, Manvell, Michelle C, McCormick, Dominique, McGovern, Michael, McLachlan, Gerry, Meng, Cuixiang, Montero, M Angeles, Milligan, Hazel, Moyce, Laura J, Murray, Gordon D, Nicholson, Andrew G, Osadolor, Tina, Parra-Leiton, Javier, Porteous, David J, Pringle, Ian A, Punch, Emma K, Pytel, Kamila M, Quittner, Alexandra L, Rivellini, Gina, Saunders, Clare J, Scheule, Ronald K, Sheard, Sarah, Simmonds, Nicholas J, Smith, Keith, Smith, Stephen N, Soussi, Najwa, Soussi, Samia, Spearing, Emma J, Stevenson, Barbara J, Sumner-Jones, Stephanie G, Turkkila, Minna, Ureta, Rosa P, Waller, Michael D, Wasowicz, Marguerite Y, Wilson, James M, Wolstenholme-Hogg, Paul
    Publicado 2015
    “…Patients (aged ≥12 years) with a forced expiratory volume in 1 s (FEV(1)) of 50–90% predicted and any combination of CFTR mutations, were randomly assigned, via a computer-based randomisation system, to receive 5 mL of either nebulised pGM169/GL67A gene–liposome complex or 0·9% saline (placebo) every 28 days (plus or minus 5 days) for 1 year. …”
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    Repeated nebulisation of non-viral CFTR gene therapy in patients with cystic fibrosis: a randomised, double-blind, placebo-controlled, phase 2b trial
  13. 197713
    “…Paraffin tumors (n = 229) were retrospectively centrally assessed by immunohistochemistry (IHC) for HER2, ER, PgR and Ki67; fluorescence in situ hybridization (FISH) for HER2, TOP2A and centromere (CEN) 17, MYC and CEN8, MET and CEN7; qPCR for MYC, MET copy number (CN); and, for PI3K activation (PIK3CA mutations; PTEN and phospho-mTOR protein expression). …”
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    MYC copy gain, chromosomal instability and PI3K activation as potential markers of unfavourable outcome in trastuzumab-treated patients with metastatic breast cancer
  14. 197714
    “…All amino acids affected in the patients’ missense variants are highly conserved from yeast to human and therefore S. cerevisiae was employed for functional analysis (for p.L71Q, p.L306F, and p.K343E). The mutations p.L339F (human p.L306F) and p.K376E (human p.K343E) resulted in a severe decrease of Oct1 protease activity and accumulation of non-processed Oct1 substrates and consequently impaired viability under respiratory growth conditions. …”
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    MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death
  15. 197715
    “…We assessed evidence for an excess of rare damaging mutations at the gene level and the gene set level, considering only singleton variants filtered to have allele frequency less than 5 × 10(–5) in reference databases. …”
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    Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese
  16. 197716
    “…Vaccinees were preferentially infected by an SIV(smE660) transmitted/founder virus carrying neutralization-resistant A/K mutations at residues 45 and 47 in Env, demonstrating a strong vaccine-induced sieve effect. …”
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    Control of Heterologous Simian Immunodeficiency Virus SIV(smE660) Infection by DNA and Protein Coimmunization Regimens Combined with Different Toll-Like-Receptor-4-Based Adjuvants in Macaques
  17. 197717
    “…Background: Pheochromocytoma and paraganglioma (PHEO/PGL) are rare neuroendocrine tumors which may cause potentially life-threatening complications, with about a third of cases found to harbor specific gene mutations. Thus, early diagnosis, treatment, and meticulous monitoring are of utmost importance. …”
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    Clinical, Diagnostic, and Treatment Characteristics of SDHA-Related Metastatic Pheochromocytoma and Paraganglioma
  18. 197718
    “…BACKGROUND: We developed a recombinant saponin-adjuvanted (Matrix-M1) quadrivalent hemagglutinin nanoparticle influenza vaccine (qNIV; NanoFlu) for older adults to address two impediments to efficacy of current, predominantly egg-derived, seasonal influenza vaccines: (1) limited protection against antigenic drift variants, particularly H3N2 viruses; and (2) antigenic mismatch between vaccine and circulating strains due to egg-adaptive mutations arising during manufacturing. In a prior Phase 1 trial, we showed that qNIV induced robust, broadly cross-reactive antibody responses against multiple antigenically drifted H3N2 viruses, which were 47–64% better than the egg-derived comparator trivalent high-dose inactivated influenza vaccine (IIV3-HD; Fluzone-High Dose). …”
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    2753. Induction of Broadly Cross-Reactive Immune Responses Against A(H3N2) Airuses: Results of a Phase 2 Trial of a Novel Recombinant Hemagglutinin Saponin-Adjuvanted Nanoparticle Seasonal Influenza Vaccine
  19. 197719
    “…Tajima’s D and the ratio of nonsynonymous vs synonymous mutations were utilized to estimate the extent of balancing and directional selection in the pfrh5 gene. …”
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    Genetic polymorphisms in malaria vaccine candidate Plasmodium falciparum reticulocyte-binding protein homologue-5 among populations in Lagos, Nigeria
  20. 197720
    “…We have analyzed peripheral blood cells of 26 patients diagnosed between birth and 2 years of age with a genetically defined primary immunodeficiency disorder: 15 severe combined immunodeficiency (SCID) patients had disease-causing mutations in RAG1 or RAG2 (n = 4, two of them presented with Omenn syndrome), IL2RG (n = 4, one of them with confirmed maternal engraftment), NHEJ1 (n = 1), CD3E (n = 1), ADA (n = 1), JAK3 (n = 3, two of them with maternal engraftment) and DCLRE1C (n = 1) and 11 other PID patients had diverse molecular defects [ZAP70 (n = 1), WAS (n = 2), PNP (n = 1), FOXP3 (n = 1), del22q11.2 (DiGeorge n = 4), CDC42 (n = 1) and FAS (n = 1)]. …”
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    EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children
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