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  1. 197921
    “…A failure in the CASA complex, caused by mutations in the respective coding genes, can lead to (cardio)myopathies and neurodegenerative diseases. …”
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    The chaperone-assisted selective autophagy complex dynamics and dysfunctions
  2. 197922
    “…The serial interval has been shown to decrease over the course of an epidemic for other respiratory diseases, which may be due to accumulating viral mutations and implementation of more effective nonpharmaceutical interventions. …”
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    Rapid review and meta-analysis of serial intervals for SARS-CoV-2 Delta and Omicron variants
  3. 197923
    “…This analysis aimed to understand patient characteristics, diagnosis and treatment patterns in patients with metastatic NSCLC (mNSCLC) without EGFR and ALK mutations across five European countries. METHODS: Data were drawn from the Adelphi NSCLC Disease Specific Programme™, a point-in-time survey of oncologists/pulmonologists and their consulting patients in France, Germany, Italy, Spain and UK. …”
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    Treatment patterns and outcomes of patients with metastatic non-small cell lung cancer in five European countries: a real-world evidence survey
  4. 197924
    “…Two clinically relevant mutations were corrected using pAIO-EF1α-PE2 including the homozygous truncating SCN1A R612* variant in HEK293T cells and the heterozygous gain-of-function KCNQ2 R201C variant in patient-derived hiPSC. …”
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    Increased prime edit rates in KCNQ2 and SCN1A via single nicking all-in-one plasmids
  5. 197925
    “…BACKGROUND: Epidermal growth factor receptor (EGFR) gene mutations and anaplastic lymphoma kinase (ALK) gene rearrangements are key therapeutic targets for biomarker-driven treatment with an EGFR or ALK tyrosine kinase inhibitor (TKI) in patients with metastatic non-small cell lung cancer (NSCLC). …”
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    Biopsy Procedures and Molecular Testing Utilization and Related Costs in Patients with Metastatic Lung Cancer
  6. 197926
    “…About 90.3% of tetracycline resistant isolates assigned to ST398 were also carrying tetK gene. The point mutations parC_S80F, gyrA_S84L and parC_S80Y in gyrA and parC associated with quinolone resistance were found in all phenotypically resistant isolates to ciprofloxacin and moxifloxacin (n = 14). …”
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    Whole genome sequence-based analysis of Staphylococcus aureus isolated from bovine mastitis in Thuringia, Germany
  7. 197927
    “…Chromosomal alterations in mgrB (82.35%) were the most prevailing colistin resistance-associated genetic change followed by deleterious mutations in ArnT (23.53%, L54H and G164S), PmrA (11.76%, G53V and D86E), PmrB (11.76%, T89P and T134P), PmrC (11.76%, S257L), PhoQ (5.88%, L322Q and Q435H), and ArnB (5.88%, G47D) along with the acquisition of mcr-1.1 by a single isolate of ST525. …”
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    Genomic characterization of colistin-resistant Klebsiella pneumoniae isolated from intensive care unit patients in Egypt
  8. 197928
    “…Introduction: Alpelisib is a p110a subunit phosphatidylinositol-3kinase inhibitor (PI3K) approved for treating hormone receptor-positive, human epidermal growth factor receptor 2-negative, PIK3CA mutated, advanced or metastatic breast cancer. PI3K signaling is essential for the metabolic action of insulin and the inhibition of p110a subunit is associated with hyperinsulinemia and hyperglycemia. …”
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    THU259 Alpelisib-induced Diabetic Ketoacidosis: Call For A Multidisciplinary Approach
  9. 197929
    “…Amongst the 146 somatotropinoma specimens analyzed by targeted-NGS, no tumor harbored a KDM1A pathogenic variant, and 35 tumors harbored GNAS mutations (6 with and 29 without paradoxical GH responses). …”
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    OR17-05 Lysine Demethylase KDM1A And Ectopic Expression Of GIP-Receptor In Somatotropinomas Of Patients With Paradoxical Response To Oral Glucose
  10. 197930
    “…Background: Fibrodysplasia ossificans progressiva (FOP) is a rare disorder characterized by progressive heterotopic ossification and flare-ups of soft tissue swellings. It is caused by mutations in the bone-morphogenetic protein (BMP) type-1 activin-A receptor. …”
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    THU467 Pharmacokinetics And Pharmacodynamics Of Garetosmab In Patients With Fibrodysplasia Ossificans Progressiva
  11. 197931
    “…We conclude that PT are genomically stable trough time, indicating that mechanisms other than somatic mutations are involved in pituitary tumorigenesis and that their biology could be driven by transcriptomically and epigenetically heterogeneous clones within the tumor itself. …”
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    THU082 Longitudinal Multiomics Characterization Of Paired Primary And Recurrent Aggressive Pituitary Tumors From The Same Patient Reveals Genomic Stability And Transcriptomic And Epigenetic Heterogeneity With Metabolic Pathways Alterations
  12. 197932
    “…We identified 12 pathogenic or likely pathogenic (P/LP) variants by WES, including two gene deletions (SHOX and PTHLH) and 10 point mutations in ACAN (2x), IHH, PRKG2, LTBP3, ERF, THRA, GHR, PTPN11, and NF1. …”
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    THU160 A Prospective Genetic Analysis Of Children With Idiopathic Short Stature (ISS) Using Whole-exome Sequencing (WES): First Results
  13. 197933
    “…It has been named as the three P association, thought to be related to succinate dehydrogenase B and D mutations. Moreover, there are no cases in the literature of paragangliomas secreting prolactin. …”
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    THU100 Case Of A Large Suprasellar-clival Mass: Prolactinoma Vs Paraganglioma
  14. 197934
    “…Pancreatic neuroendocrine tumours (PNETs), which can be hormone-secreting (e.g. insulinomas) or non-functioning (NF-PNETs), have a low mutational burden and are reported to be associated with DNA hypermethylation, but the role of 5hmC in PNETs is unknown. …”
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    OR16-03 Epigenetic Studies Of Pancreatic Neuroendocrine Tumours (PNETs) Reveal Decreased DNA Hydroxymethylation In Non-functioning PNETs But Not Insulinomas
  15. 197935
    “…Germline heterozygous mutations in the ARMC5 are present in 10% to 55% of the patients. …”
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    FRI188 Exploratory Genomic Analysis From A Brazilian PMAH-Family With ARMC5 Alteration With Insidious Pattern Progression Of The Disease
  16. 197936
    “…Several factors such as genetics, for example, BRCA1 gene mutations, may predict multiple primary cancers. Factors such as the age at first cancer diagnosis may determine the outcome of multiple primary cancers. …”
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    Factors That Determine Multiple Primary Cancers in the Adult Population in the United States
  17. 197937
    “…Approximately 5% of Alzheimer’s disease cases have an early age at onset (<65 years), with 5–10% of these cases attributed to dominantly inherited mutations and the remainder considered as sporadic. …”
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    Longitudinal clinical, cognitive and biomarker profiles in dominantly inherited versus sporadic early-onset Alzheimer’s disease
  18. 197938
    “…PSMC5 interacted with TLR4 via the amino sites Glu284, Met139, Leu127, and Phe283. PSMC5 site mutations attenuated neuroinflammation and reduced pro-inflammatory factors by reducing TLR4-related effects, thereby reducing TLR4-mediated MyD88 (myeloid differentiation factor 88)-dependent activation of NF-κB. …”
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    PSMC5 regulates microglial polarization and activation in LPS-induced cognitive deficits and motor impairments by interacting with TLR4
  19. 197939
    “…In addition, WGS performed on two-month interval samples showed several mutations in the S gene and ORF1ab genes, confirming within-host viral evolution. …”
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    456. Within-host Viral Evolution and Neutralizing Antibody Response in Immunocompromised Patients with Persistent SARS-CoV-2 Infection Receiving B Cell Depleting Treatment
  20. 197940
    “…The activity of each agent is compromised by NDM-producing strains that harbor PBP3 mutations. DISCLOSURES: Ghady Haidar, MD, Allovir: Grant/Research Support|AstraZeneca: Advisor/Consultant|AstraZeneca: Grant/Research Support|Karius: Advisor/Consultant|Karius: Grant/Research Support|NIH: Grant/Research Support Ryan K. …”
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    2185. In vitro activity of aztreonam-avibactam (ATM-AVI), cefiderocol (FDC), and cefepime-taniborbactam (FEP-TAN) against multi-species, NDM-producing Enterobacterales causing a local outbreak
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