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  1. 197021
    “…ABSTRACT: Fer1L5 is a dysferlin and myoferlin related protein, which has been predicted to have a role in vesicle trafficking and muscle membrane fusion events. Mutations in dysferlin and otoferlin genes cause heredity diseases: muscular dystrophy and deafness in humans, respectively. …”
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    Fer1L5, a Dysferlin Homologue Present in Vesicles and Involved in C2C12 Myoblast Fusion and Membrane Repair
  2. 197022
    “…Additionally, no strong correlation between TIL responses and tumor mutational burden (TMB) in melanoma was observed, indicating that TMB was not a major driving force of response. …”
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    Qualitative Analysis of Tumor-Infiltrating Lymphocytes across Human Tumor Types Reveals a Higher Proportion of Bystander CD8(+) T Cells in Non-Melanoma Cancers Compared to Melanoma
  3. 197023
    “…Tooth agenesis is one of the most common orodental anomalies that demonstrate phenotypic and genotypic heterogeneity with a prevalence of 2.5%–7%. Mutations in WNT10A have been proposed to be the most common cause of nonsyndromic tooth agenesis (NSTA). …”
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    Phenotypic and Genotypic Features of Thai Patients With Nonsyndromic Tooth Agenesis and WNT10A Variants
  4. 197024
    “…IMPORTANCE: There are large randomized clinical trials—SOLO-1 (Olaparib Maintenance Monotherapy in Patients With BRCA Mutated Ovarian Cancer Following First Line Platinum Based Chemotherapy [December 2018]), PRIMA (A Study of Niraparib Maintenance Treatment in Patients With Advanced Ovarian Cancer Following Response on Front-Line Platinum-Based Chemotherapy [September 2019]), and PAOLA-1 (Platine, Avastin and Olaparib in 1st Line [December 2019])—reporting positive efficacy results for maintenance regimens for women with primary, advanced epithelial ovarian cancer. …”
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    Cost-effectiveness of Maintenance Therapy Based on Molecular Classification Following Treatment of Primary Epithelial Ovarian Cancer in the United States
  5. 197025
    “…Loss-of-function mutations in the Sost gene lead to high bone mass phenotypes. …”
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    Cortical bone adaptation to a moderate level of mechanical loading in male Sost deficient mice
  6. 197026
    “…RESULTS: The established human pancreatic tumour organoids presented typical features of malignancy corresponding to the primary tumour (i.e. nuclear enlargement, multiple nucleoli, mitosis, apoptosis, and mutated KRAS and/or TP53). These tumour organoids also expressed variable levels of many known cachexia‐related genes including interleukin‐6 (IL‐6), TNF‐α, IL‐8, IL‐1α, IL‐1β, Mcp‐1, GDF15, and LIF. mRNA expression of IL‐1α and IL‐1β was significantly reduced in organoids from cachectic vs. non‐cachectic patients (IL‐1α: −3.8‐fold, P = 0.009, and IL‐1β: −4.7‐fold, P = 0.004). …”
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    Generation and initial characterization of novel tumour organoid models to study human pancreatic cancer‐induced cachexia
  7. 197027
    “…Data extracted included demographics, CD4 count, HIV PCR, co-morbidities, dates of clinic attendance, HIV resistance mutations and ART changes. Viral suppression and gain in CD4 counts were compared. …”
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    1010. Effective Management of HIV in Rural Georgia Using Telemedicine
  8. 197028
    “…No patients were found to have significant resistance mutations to the involved agents. After initiation, 6% (3/49) of patients reported side effects. …”
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    1040. Real-World Implementation of Dolutegravir-Lamivudine to Achieve and Maintain HIV-1 Viral Suppression at an Academic Medical Center
  9. 197029
    “…BACKGROUND: Daptomycin (DAP) is a lipopeptide antibiotic targeting membrane anionic phospholipids (APLs) at the division septum, and resistance (DAP-R) has been linked to mutations in genes encoding i) the LiaFSR stress response system or its effector LiaX, and ii) cardiolipin synthase (Cls). …”
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    1446. Dynamics of Enterococcus faecalis Cardiolipin Synthase Gene Expression Reveal Compensatory Roles in Daptomycin Resistance
  10. 197030
    “…BACKGROUND: In the TNT trial of triple negative breast cancer (NCT00532727), germline BRCA1/2 mutations were present in 28% of carboplatin responders. …”
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    Assessment of structural chromosomal instability phenotypes as biomarkers of carboplatin response in triple negative breast cancer: the TNT trial
  11. 197031
    “…Patients with/without a family history of potentially BRCA-associated tumors had 14%/6% mutations. CONCLUSION: Based on our findings of a gBRCApv incidence higher than expected in a real-life series of Italian patients with incident PDAC, we recommend screening all PDAC patients <74 years old, regardless of family history and stage, due to the therapeutic implications and cancer risk prevention in patients' relatives.…”
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    Germinal BRCA1-2 pathogenic variants (gBRCA1-2pv) and pancreatic cancer: epidemiology of an Italian patient cohort
  12. 197032
    “…Molecular profiling of gastrointestinal stromal tumours that lack activating somatic mutations in KIT or PDGFRA or so-called ‘wild-type’ GIST (wtGIST) has demonstrated that wtGIST and NET have overlapping molecular features and has encouraged exploration of shared therapeutic targets, due to a lack of effective therapies currently available for metastatic wtGIST. …”
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    The role of [(68) Ga]Ga-DOTATATE PET/CT in wild-type KIT/PDGFRA gastrointestinal stromal tumours (GIST)
  13. 197033
    “…Conclusion: HuR-NP exhibited antitumor activity in melanoma cells independent of their oncogenic B-RAF mutational status. Additionally, combinatorial therapy incorporating MEK inhibitor holds promise in overriding MITF-mediated drug resistance in melanoma.…”
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    Molecular Targeting of HuR Oncoprotein Suppresses MITF and Induces Apoptosis in Melanoma Cells
  14. 197034
    “…The interaction term between platinum exposure and mutational status of HRR genes was not significant (p-value = 0.35). …”
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    Clinical Significance of Germline Cancer Predisposing Variants in Unselected Patients with Pancreatic Adenocarcinoma
  15. 197035
    “…Characteristics of histopathologic and status of an ataxia-telangiectasia mutated polymorphism (D1853N) in 18 patients affected with brain tumors were also provided. …”
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    Evolutionary model of brain tumor circulating cells: Cellular galaxy
  16. 197036
    “…In addition, the number of silent/nonsilent mutations and neoantigens in iC2 subtype were significantly more than those in iC1/iC3/iC4 subtype, and the same trend was also observed in CNV Gain/Loss. …”
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    Development and validation of prognostic markers in sarcomas base on a multi-omics analysis
  17. 197037
    “…RESULTS: The gene panel detected 11 monogenic diabetes patients with five novel mutations among the 80 early-onset diabetes patients. …”
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    Missense Variants in PAX4 Are Associated with Early-Onset Diabetes in Chinese
  18. 197038
    “…Data derived from cBioPortal demonstrated a population of PCa patients expressing mutations aligning with amplification of LPIN1, LPIN2 and LPIN3 genes. …”
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    Identification of lipidomic profiles associated with drug-resistant prostate cancer cells
  19. 197039
    “…Naturally occurring comparative models of disease are an attractive prospect because they occur on heterogeneous genetic backgrounds and are due to spontaneous rather than engineered mutations. The use of animals with naturally occurring disease has been effective for studying osteosarcoma, lymphoma, and diabetes. …”
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    Spontaneous and Engineered Large Animal Models of Neurofibromatosis Type 1
  20. 197040
    “…WGS showed that the major PFGE types causing outbreaks each year (type 01, 11, 18, 23, 26, and 31) carried the same resistance genes (bla(KPC–)(1), bla(ADC–)(25), bla(OXA–)(66), and adeABC), AdeR-S mutations (G186V and A136V), and a partially blocked porin channel CarO. …”
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    Impact of an Intervention to Control Imipenem-Resistant Acinetobacter baumannii and Its Resistance Mechanisms: An 8-Year Survey
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