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  1. 196461
    “…It is purine-rich, repetitive and notoriously hard to sequence, but is a hotspot for mutations causing X-linked retinitis pigmentosa. METHODS: Long-read nanopore sequencing on MinION and Flongle flow cells was used to sequence RPGR ORF15 in genomic DNA from patients with inherited retinal dystrophy. …”
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    Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following DNase I Treatment of MinION Flow Cells
  2. 196462
    “…RESULTS: On a cellular level, patients showed a minor IFN-γ response after stimulating PBMCs with mutated regions of SARS-CoV-2 variants. Neutralizing antibody titers against Omicron-BA.1 and especially BA.5 were strongly reduced. …”
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    Immune responses in COVID-19 patients during breakthrough infection with SARS-CoV-2 variants Delta, Omicron-BA.1 and Omicron-BA.5
  3. 196463
    “…Furthermore, we found that METTL1 / WDR4 expression and mRNA / lncRNA risk scores were closely associated with TP53 mutations. Clinicopathological features correlation results showed that METTL1 / WDR4 expression and mRNA / lncRNA risk score were associated with the stage and invasion depth (T) of HCC. …”
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    M7G methylated core genes (METTL1 and WDR4) and associated RNA risk signatures are associated with prognosis and immune escape in HCC
  4. 196464
    “…MECP2 gene was the most recurrently mutated gene (n = 6; 20%) in the present cohort. Majority of the affected genes identified in the study cohort are involved in synaptic formation, transcription and its regulation, ubiquitination and chromatin remodeling. …”
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    Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test
  5. 196465
    “…Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in the SMN1 gene resulting in reduced levels of the SMN protein. …”
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    Multi-omics profiling of CSF from spinal muscular atrophy type 3 patients after nusinersen treatment: a 2-year follow-up multicenter retrospective study
  6. 196466
    “…BACKGROUND: Olaparib, a poly (ADP-ribose) polymerase (PARP) inhibitor, has demonstrated effectiveness in treating ovarian, breast, and other cancers, particularly those with specific molecular subtypes including, but not limited to, BRCA1/2 mutations. Consequently, its utilization is expected to increase in the future. …”
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    Drug-induced interstitial lung disease caused by olaparib: three case reports and review of the Japanese Adverse Drug Event Report database and literature
  7. 196467
    “…Filtering of WES results for targeted panels missed important mutations affecting therapy selection. CONCLUSIONS: DDA is a promising approach to overcome challenges associated with the interpretation of extensive molecular profiling in the routine care of high-risk pediatric cancers. …”
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    Real-world performance analysis of a novel computational method in the precision oncology of pediatric tumors
  8. 196468
    “…Patients with low-risk clinicopathologic features (> 40 years old, low risk of breast cancer susceptibility gene (BRCA) 1 and BRCA2 mutations, mammographically detected unicentric and non-mass lesions, low- or intermediate-grade without comedo or necrosis, measuring < 2.5 cm with margins ≥ 3 mm, and estrogen receptor-positive status) of DCIS who underwent BCS will be randomized at a 1:1 ratio to either receive tamoxifen (5 mg/day) for 5 years or undergo RT with conventional fractions (50 Gy in 25 fractions) or hypofractionations (40.05 Gy in 15 fractions). …”
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    Radiotherapy versus low-dose tamoxifen following breast-conserving surgery for low-risk and estrogen receptor-positive breast ductal carcinoma in situ: an international open-label randomized non-inferiority trial (TBCC-ARO DCIS Trial)
  9. 196469
    por Carey, Megan E, Dyson, Zoe A, Ingle, Danielle J, Amir, Afreenish, Aworh, Mabel K, Chattaway, Marie Anne, Chew, Ka Lip, Crump, John A, Feasey, Nicholas A, Howden, Benjamin P, Keddy, Karen H, Maes, Mailis, Parry, Christopher M, Van Puyvelde, Sandra, Webb, Hattie E, Afolayan, Ayorinde Oluwatobiloba, Alexander, Anna P, Anandan, Shalini, Andrews, Jason R, Ashton, Philip M, Basnyat, Buddha, Bavdekar, Ashish, Bogoch, Isaac I, Clemens, John D, da Silva, Kesia Esther, De, Anuradha, de Ligt, Joep, Diaz Guevara, Paula Lucia, Dolecek, Christiane, Dutta, Shanta, Ehlers, Marthie M, Francois Watkins, Louise, Garrett, Denise O, Godbole, Gauri, Gordon, Melita A, Greenhill, Andrew R, Griffin, Chelsey, Gupta, Madhu, Hendriksen, Rene S, Heyderman, Robert S, Hooda, Yogesh, Hormazabal, Juan Carlos, Ikhimiukor, Odion O, Iqbal, Junaid, Jacob, Jobin John, Jenkins, Claire, Jinka, Dasaratha Ramaiah, John, Jacob, Kang, Gagandeep, Kanteh, Abdoulie, Kapil, Arti, Karkey, Abhilasha, Kariuki, Samuel, Kingsley, Robert A, Koshy, Roshine Mary, Lauer, AC, Levine, Myron M, Lingegowda, Ravikumar Kadahalli, Luby, Stephen P, Mackenzie, Grant Austin, Mashe, Tapfumanei, Msefula, Chisomo, Mutreja, Ankur, Nagaraj, Geetha, Nagaraj, Savitha, Nair, Satheesh, Naseri, Take K, Nimarota-Brown, Susana, Njamkepo, Elisabeth, Okeke, Iruka N, Perumal, Sulochana Putli Bai, Pollard, Andrew J, Pragasam, Agila Kumari, Qadri, Firdausi, Qamar, Farah N, Rahman, Sadia Isfat Ara, Rambocus, Savitra Devi, Rasko, David A, Ray, Pallab, Robins-Browne, Roy, Rongsen-Chandola, Temsunaro, Rutanga, Jean Pierre, Saha, Samir K, Saha, Senjuti, Saigal, Karnika, Sajib, Mohammad Saiful Islam, Seidman, Jessica C, Shakya, Jivan, Shamanna, Varun, Shastri, Jayanthi, Shrestha, Rajeev, Sia, Sonia, Sikorski, Michael J, Singh, Ashita, Smith, Anthony M, Tagg, Kaitlin A, Tamrakar, Dipesh, Tanmoy, Arif Mohammed, Thomas, Maria, Thomas, Mathew S, Thomsen, Robert, Thomson, Nicholas R, Tupua, Siaosi, Vaidya, Krista, Valcanis, Mary, Veeraraghavan, Balaji, Weill, François-Xavier, Wright, Jackie, Dougan, Gordon, Argimón, Silvia, Keane, Jacqueline A, Aanensen, David M, Baker, Stephen, Holt, Kathryn E
    Publicado 2023
    “…Azithromycin resistance mutations were detected at low prevalence in South Asia, including in two common ciprofloxacin-resistant genotypes. …”
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    Global diversity and antimicrobial resistance of typhoid fever pathogens: Insights from a meta-analysis of 13,000 Salmonella Typhi genomes
  10. 196470
    “…FTO was found to promote the expression of cellular death-related factor ataxia telangiectasia mutated (ATM) via m6A-dependent stabilization of ATM mRNA in dopaminergic neurons. …”
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    FTO-targeted siRNA delivery by MSC-derived exosomes synergistically alleviates dopaminergic neuronal death in Parkinson's disease via m6A-dependent regulation of ATM mRNA
  11. 196471
    “…Connecting these non-coding variants and downstream affected genes is a challenge and, up to date, only a few functional mutations or expression quantitative loci (cis-eQTLs) associated with PTB susceptibility have been identified. …”
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    Summary-data based Mendelian randomization identifies gene expression regulatory polymorphisms associated with bovine paratuberculosis by modulation of the nuclear factor Kappa β (NF-κß)-mediated inflammatory response
  12. 196472
    “…RESULTS: We constructed a conditional lethal mutant of the pheS gene of Z. mobilis ZM4, clmPheS, containing T263A and A318G substitutions and coding for a mutated alpha-subunit of phenylalanyl-tRNA synthetase to allow for the incorporation of a toxic analog of phenylalanine, p-chloro-phenylalanine (4-CP), into proteins, and hence leading to inhibition of cell growth. …”
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    Development of a counterselectable system for rapid and efficient CRISPR-based genome engineering in Zymomonas mobilis
  13. 196473
    “…RESULTS: In patient GP5, CDK12 inactivation was among the first mutations, leading to a PrCa tandem duplicator phenotype and initiating the cancer around age 50, followed by rapid cancer evolution after age 57, and metastasis around age 59, 5 years prior to prostatectomy. …”
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    Cancer origin tracing and timing in two high-risk prostate cancers using multisample whole genome analysis: prospects for personalized medicine
  14. 196474
    “…Second, despair has gained those suffering from the mutations of socio-economic systems and working conditions that have accompanied globalization policies (e.g. delocalization, deindustrialization, and the decline of social services). …”
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    Association of globalization with the burden of opioid use disorders 2019. A country-level analysis using targeted maximum likelihood estimation
  15. 196475
    “…This paper explores the potential therapeutic capacity of an all-D-isomer synthetic peptide limited to the first six amino acids of the N-terminal sequence of the A2V-mutated Aβ, Aβ1-6(A2V)(D), that was developed following the observation of a clinical case that provided the background for its development. …”
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    Aβ1-6(A2V)(D) peptide, effective on Aβ aggregation, inhibits tau misfolding and protects the brain after traumatic brain injury
  16. 196476
    “…This transmembrane transporter is expressed at the brain barriers, as the blood–brain barrier (BBB), and in neural cells, being the sole known thyroid hormone-specific transporter to date. Inactivating mutations in the MCT8 gene (SLC16A2) cause the Allan-Herndon-Dudley Syndrome (AHDS) or MCT8 deficiency, a rare X-linked disease characterized by delayed neurodevelopment and severe psychomotor disorders. …”
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    Neurovascular unit disruption and blood–brain barrier leakage in MCT8 deficiency
  17. 196477
    “…This fast and reliable approach enables HRD testing, including BRCA1/2 mutations and genomic instability assessment. HRD testing on cfDNA from peritoneal fluid should be offered to all primary laparoscopy patients. …”
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    Homologous recombination deficiency (HRD) testing on cell-free tumor DNA from peritoneal fluid
  18. 196478
    “…In addition to causing insertional mutations due to viral gene integration, epigenetic alterations and inducing chronic immunological dysfunction are all methods by which these viruses turn hepatocytes into cancerous ones. …”
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    A state-of-the-art review on the NRF2 in Hepatitis virus-associated liver cancer
  19. 196479
    “…The virus remains a global burden because its genetic causes are constantly changing or it mutated throughout the pandemic to emerge a new strain of infection. …”
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    Global prevalence of COVID-19-induced acute respiratory distress syndrome: systematic review and meta-analysis
  20. 196480
    “…BACKGROUND: As in most solid cancers, the emergence of cells with oncogenic mutations in the mammary epithelium alters the tissue homeostasis. …”
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    Formation of an invasion-permissive matrix requires TGFβ/SNAIL1-regulated alternative splicing of fibronectin
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