“…Following the site-directed mutagenesis of plasmid EphA2 3′-UTR pmirGLO-MUT- and miR-26b mimic-transfected HeLa cells, the dual-luciferase reporter gene assay revealed that there were three consecutive nucleotide mutations in the 3′-UTR, binding with the predicted seed region. …”
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“…Through quantification of thymine dimers after UV irradiation in cells expressing E6 proteins with point mutations at conserved residues we identified a critical lysine in the C-terminal part of the protein for prevention of DNA damage repair and p300 binding. …”
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“…BACKGROUND: Mutations in CAPN3 cause limb girdle muscular dystrophy type 2A (LGMD2A), a progressive muscle wasting disease. …”
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“…BACKGROUND: Angiopoietin-like protein 3 (ANGPTL3) is a major lipoprotein regulator and shows positive correlation with high-density lipoprotein-cholesterol (HDL-c) in population studies and ANGPTL3 mutated subjects. However, no study has looked its correlation with HDL components nor with HDL function in patients with type 2 diabetes mellitus (T2DM). …”
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“…Following the removal of the indel mutations, a total of 195,3804, 152,7120 and 205,3184 raw SNPs expressed in bovine liver were identified for the Polish Red, Polish HF, and Hereford breeds, respectively. …”
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“…These viruses possess 2.2.1.2 clade-specific genetic signatures and also mutations in the HA similar to those in clade 2.2.1.1 that enabled evasion from humoral immune response. …”
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“…RESULTS: Some of the identified strengths of ebola virus include: Ebola virus is an RNA virus with inherent capability to mutate, reassort and recombine to generate mutant or reassortant virulent strains; Ebola virus has a broad cellular tropism; Natural Reservoir of ebola virus is unconfirmed but fruit bats, arthropods, and plants are hypothesized; Ebola virus primarily targets and selectively destroys the immune system; Ebola viruses possess accessory proteins that inhibits the host’ immune responses; Secreted glycoprotein (sGP), a truncated soluble protein that triggers immune activation and increased vascular permeability is uniquely associated with Ebola virus only; Ability to effectively cross the species barrier and establish productive infection in humans, non human primates, and other mammals; Ebola virus attacks every part of the human body; The Weaknesses include: Ebola virus transmission and persistence is severely limited by its virulence; Ebola virus essentially requires host encoded protein Niemann–Pick C1 (NPC1) for host’s cell’ entry; Ebola virus essentially requires host encoded proteins (TIM-1) for cell’ entry; Relative abundance of Ebolavirus Nucleoprotein than the other virion components; The Opportunities harnessed by ebola virus include: Lack of infection control practices in African health-care facilities and paucity of health infrastructures, especially in the endemic zones; Permissiveness of circulating Monocytes, Macrophages and dendritic cells in virus mobilization and dissemination; Collection, consumption and trade of wild games (bushmeats); Pertubation and drastic changes in forest ecosystems present opportunities for Ebola virus; Use of dogs in hunting predisposes man and animals to inter-species contact; Poverty, malnutrition, crowding, social disorder, mobility and political instability; Ease of travel and aviation as potentials for global spread; Possible mechanical transmission by arthropod vectors; No vaccines or therapeutics are yet approved for human treatment; The Threats to ebola virus include: Avoidance of direct contact with infected blood and other bodily fluids of infected patient; Appropriate and correct burial practices; Adoption of barrier Nursing; Improved surveillance to prevent potential spread of epidemic; Making Available Rapid laboratory equipment and procedures for prompt detection (ELISA, Western Blot, PCR); Sterilization or disinfection of equipment and safe disposal of instrument; Prompt hospitalization, isolation and quarantine of infected individual; Active contact tracing and monitoring, among others. …”
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“…Resistance occurred in 15% of VF patients, predominantly with NNRTI mutations. A total of 22% of STR and 60% of MTR initiators experienced a change in their initial ART regimen (P < 0.0001). …”
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“…METHODS: The in vitro MIC values of 28 Candida species isolated from patients with CMC due to AIRE mutations were tested against VT-1598 and fluconazole (FLC), using CLSI broth microdilution M27-S4. …”
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“…BACKGROUND: The group II metabotropic glutamate receptor 3 (mGlu3) is an emerging therapeutic target for schizophrenia, as research has demonstrated a link between mutations in the human gene encoding for mGlu3, GRM3, and clinical diagnosis of schizophrenia. …”
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“…BACKGROUND: Ataxia telangiectasia mutated (ATM) gene plays a key role in response to DNA lesions and is related to the invasion and metastasis of malignancy. …”
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“…Incorporation of YTE mutations extend its half-life to allow for dosing once every RSV season. …”
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“…MK-1654 is a fully human monoclonal antibody targeting the RSV fusion (F) protein with Fc domain mutations to extend half-life that is being developed to provide passive immunity against RSV in infants. …”
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“…Clinical responses were correlated with PD-L1 expression on tumor cells, the presence of tumor infiltrating lymphocytes (TIL), baseline tumor volume, ECOG performance status, serum LDH levels, high percentage of activated CD8+ T cells and CD3− CD16+ CD54+ NK cells in the peripheral blood as well as tumor mutational burden (TMB). CONCLUSION: JS001 was well tolerated and demonstrated promising anti-tumor activity in UC and RCC as well as in previously underexplored acral and mucosal melanoma subtypes. …”
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“…In this study, we investigated the effects of Ataxia Telangiectasia Mutated (ATM) on lung cancer metastasis. MATERIALS AND METHODS: Cisplatin-resistant A549CisR and H157CisR cell line were generated by long-term treating parental A549 and H157 cells (A549P and H157P) with cisplatin. …”
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“…Emerin (EMD) and barrier to autointegration factor 1 (BANF1) each bind A-type lamins (LMNA) as fundamental components of nuclear lamina structure. Mutations in LMNA, EMD and BANF1 are genetically linked to many tissue-specific disorders including Emery-Dreifuss muscular dystrophy and cardiomyopathy (LMNA, EMD), lipodystrophy, insulin resistance and type 2 diabetes (LMNA) and progeria (LMNA, BANF1). …”
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“…After uninterrupted treatment with hydrocortisone for two weeks, 17-hydroxy progesterone was 800 ng/dL (27-199), his ACTH improved to 660 and his testosterone decreased to 494. A 21-hydroxylase mutational analysis is pending. Conclusions: Classical CAH is typically diagnosed in infancy or youth in the setting of adrenal insufficiency with/without salt wasting, ambiguous genitalia in female infants or virilization. …”
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“…Her HTN improved and insulin was discontinued. There were no mutations found in a hereditary Pheo panel (Invitae- 14 genes). …”
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“…Mutations in the tumor suppressor p53 gene are frequently associated with various cancers, including human breast cancer. …”
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“…Genome-wide association studies have linked PAPPA2 to adult stature, and mutations in PAPPA2 cause short stature with decreased IGF-I bioavailability. …”
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