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  1. 196601
    “…High‐quality CTC (n = 123) from 12 patients profiled by scNGS showed 100% concordance with ctDNA detection of driver estrogen receptor α (ESR1) mutations. We developed a novel CTC‐based framework for precision medicine actionability reporting (MI‐CTCseq) that incorporates novel features, such as clonal predominance and zygosity of targetable alterations, both unambiguously identifiable in CTC compared to ctDNA. …”
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    Serial monitoring of genomic alterations in circulating tumor cells of ER‐positive/HER2‐negative advanced breast cancer: feasibility of precision oncology biomarker detection
  2. 196602
    “…POLO, a randomized, double-blind, placebo-controlled phase 3 trial evaluated the efficacy of olaparib as maintenance therapy in germline BRCA mutated mPC patients who had not progressed during ≥16 weeks of first-line platinum-based chemotherapy. …”
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    Health-related quality of life scores of metastatic pancreatic cancer patients responsive to first line chemotherapy compared to newly derived EORTC QLQ-C30 reference values
  3. 196603
    “…STAS was frequently found in tumors with wild-type EGFR (p < 0.001), KRAS mutations (p < 0.001), ALK rearrangements (p < 0.001) or ROS1 rearrangements (p < 0.001). …”
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    An individual nomogram can reliably predict tumor spread through air spaces in non-small-cell lung cancer
  4. 196604
    “…BACKGROUND: Driver mutations are the genetic components responsible for tumor initiation and progression. …”
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    Heritable genomic diversity in breast cancer driver genes and associations with risk in a Chilean population
  5. 196605
    “…BACKGROUND: Achondroplasia (ACH) is one of the most prevalent genetic forms of short-limbed skeletal dysplasia, caused by gain-of-function mutations in the receptor tyrosine kinase FGFR3. In August 2021, the C-type natriuretic peptide (CNP) analog vosoritide was approved for the treatment of ACH. …”
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    A registry of achondroplasia: a 6-year experience from the Czechia and Slovak Republic
  6. 196606
    “…The lack of genotype-PROM association may be due to the diverse mutational spectrum in OI, which warrants further investigation when a larger sample size is available. …”
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    Patient-reported outcomes in a Chinese cohort of osteogenesis imperfecta unveil psycho-physical stratifications associated with clinical manifestations
  7. 196607
    “…METHODS: High-risk group included confirmed presence of del(17p), del(11q), unmutated IGHV, TP53 mutations, or complex karyotype. Weighted high-risk ibrutinib and CIT groups were compared for treatment effects using inverse probability of treatment weighting. …”
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    Real-world Clinical Outcomes of First-Line Ibrutinib or Chemoimmunotherapy in Patients with Chronic Lymphocytic Leukemia by Risk Status
  8. 196608
    “…Interestingly, correlation analyses revealed an association between COLGALT1 and microsatellite instability (MSI), tumor mutational burden (TMB) and immunity (P < 0.001). In addition, we used TIDE and TCIA databases to predict the immune response of COLGALT1 in KIRC and it suggested low expression of COLGALT1 is more likely to benefit from immunotherapy. …”
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    COLGALT1 is a potential biomarker for predicting prognosis and immune responses for kidney renal clear cell carcinoma and its mechanisms of ceRNA networks
  9. 196609
    por Antoranz, Asier, Ortiz, María, Pey, Jon
    Publicado 2022
    “…Huge experimental efforts such as Project Achilles where the essentiality of thousands of genes is measured together with a plethora of molecular data (transcriptomics, copy number, mutations, etc.) in over one thousand cell lines can shed light on the causality behind the essentiality of a gene in a given environment. …”
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    ELIMINATOR: essentiality analysis using multisystem networks and integer programming
  10. 196610
    “…PURPOSE: Ataxia telangiectasia mutated (ATM) is a key mediator of the DNA damage response, and several ATM inhibitors (ATMi) are currently undergoing early phase clinical trials for the treatment of cancer. …”
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    Radiofluorination of a highly potent ATM inhibitor as a potential PET imaging agent
  11. 196611
    “…The results also suggest that fewer deleterious mutations in the blue-crowned laughingthrush genomes have allowed them to thrive even with a small population size. …”
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    Genomic signatures and evolutionary history of the endangered blue-crowned laughingthrush and other Garrulax species
  12. 196612
    “…RESULTS: The results showed that there were two mutations at the N-terminus of imported Pfcsp in Henan Province, including insertion amino acids (58.71%, 118/201) and A → G (38.81%, 78/201). …”
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    Genetic polymorphism of circumsporozoite protein of Plasmodium falciparum among Chinese migrant workers returning from Africa to Henan Province
  13. 196613
    “…BACKGROUND: Dysferlinopathy refers to a heterogenous group of autosomal recessive disorders that affect a skeletal muscle protein called dysferlin. These mutations are associated with limb-girdle muscular dystrophy type 2B, Miyoshi myopathy, asymptomatic hyperCKemia, and distal myopathy with anterior tibial onset. …”
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    Recurrent, non-traumatic, non-exertional rhabdomyolysis after immunologic stimuli in a healthy adolescent female: a case report
  14. 196614
    “…BACKGROUND: Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder caused by mutations in the arylsulfatase A gene. Until now, there has been little information on the burden of MLD on patients and their caregivers. …”
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    An international study of caregiver-reported burden and quality of life in metachromatic leukodystrophy
  15. 196615
    “…However, remission failure occurs due to acquired resistance caused by secondary BCR-ABL mutations, underlining the need for novel BCR-ABL-targeting strategies. …”
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    circCRKL, a circRNA derived from CRKL, regulates BCR-ABL via sponging miR-877-5p to promote chronic myeloid leukemia cell proliferation
  16. 196616
    “…BACKGROUND: SMAD4 is a key mediator of TGFβ signaling and one of the mutated genes in extrahepatic bile duct cancer (eBDC). …”
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    Prognostic value of functional SMAD4 localization in extrahepatic bile duct cancer
  17. 196617
    “…BACKGROUND: Rett Syndrome (RTT) is a severe, neurodevelopmental disorder mainly caused by mutations in the MECP2 gene, affecting around 1 in 10,000 female births. …”
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    Pain in Rett syndrome: a pilot study and a single case study on the assessment of pain and the construction of a suitable measuring scale
  18. 196618
    “…Overexpression of TNFAIP2 was an independent poor prognostic factor of overall survival (OS) and was associated with unfavorable cytogenetic risk and gene mutations in AML patients. DNA hypermethylation of TNFAIP2 at gene body linked to upregulation of TNFAIP2 and inferior OS in AML. …”
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    Pan-cancer analysis of oncogenic TNFAIP2 identifying its prognostic value and immunological function in acute myeloid leukemia
  19. 196619
    “…The study also demonstrated that accumulation of SARS-CoV-2 Spike protein mutations was accompanied by a marked decline in antibody neutralization capacity, especially for B.1.1.529. …”
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    Comparison of vaccine-induced antibody neutralization against SARS-CoV-2 variants of concern following primary and booster doses of COVID-19 vaccines
  20. 196620
    “…Thalassemia causes hemolytic anemia and ineffective erythropoiesis due to mutations in the globin gene. Although neonatal hemochromatosis and thalassemia have completely different causes, the coexistence of these diseases can synergistically exacerbate iron overload. …”
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    Neonatal hemochromatosis with εγδβ-thalassemia: a case report and analysis of serum iron regulators
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