Results 31 to 40 of about 3,248,558 (306)

Characteristics and survival of patients with advanced cancer and p53 mutations. [PDF]

open access: yes, 2014
P53 mutations are associated with invasive tumors in mouse models. We assessed the p53mutations and survival in patients with advanced cancer treated in the Phase I Program. Of 691 tested patients, 273 (39.5%) had p53 mutations.
Aldape, Kenneth   +12 more
core   +4 more sources

Low host immune pressure may be associated with the development of hepatocellular carcinoma: a longitudinal analysis of complete genomes of the HBV 1762T, 1764A mutant

open access: yesFrontiers in Oncology, 2023
BackgroundIt has been reported that hepatitis B virus (HBV) double mutations (A1762T, G1764A) are an aetiological factor of hepatocellular carcinoma (HCC).
Zhi-Hua Jiang   +11 more
doaj   +1 more source

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis [PDF]

open access: yes, 2010
Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects 85% mutations in infantile neuroaxonal dystrophy.
Brady, Angela F   +14 more
core   +1 more source

A hidden cause of infertility in hypothyroid patients [PDF]

open access: yes, 2020
Methylene tetrahydrofolate reductase (MTHFR) gene mutations could be the cause of infertility in hypothyroid patients. Hence, it is worthy to screen for MTHFR gene mutations in infertile hypothyroid females and their partners if infertility persists ...
Ahmed, Soha Magdy   +4 more
core   +1 more source

Genetic polymorphism and phenotypic resistance of Mycobacterium tuberculosis to ofloxacin and moxifloxacin

open access: yesТуберкулез и болезни лёгких, 2020
The objective: to study the phenotypic sensitivity of Mycobacterium tuberculosis (MTB) to fluoroquinolones, ofloxacin and moxifloxacin and correlate it with MTB genome mutations associated with resistance to fluoroquinolones to determine the possibility ...
D. V. Vаkhrushevа   +5 more
doaj   +1 more source

Mutations, inflammation and phenotype of myeloproliferative neoplasms

open access: yesFrontiers in Oncology, 2023
Knowledge on the myeloproliferative neoplasms (MPNs) – polycythemia vera (PV), essential thrombocythemia (ET), primary myelofibrosis (PMF) – has accumulated since the discovery of the JAK/STAT-activating mutations associated with MPNs: JAK2V617F ...
Sylvie Hermouet, Sylvie Hermouet
doaj   +1 more source

PIK3CA mutations in advanced cancers: characteristics and outcomes. [PDF]

open access: yes, 2012
PIK3CA mutations are frequently diagnosed in diverse cancers and may predict response to PI3K/AKT/mTOR inhibitors. It remains unclear whether they are associated with other characteristics.
Falchook, Gerald S   +13 more
core   +4 more sources

Cerebrospinal Fluid Liquid Biopsy Enables Targeted Therapy Without Tissue Diagnosis in Pediatric Low‐Grade Gliomas With BRAF V600E Mutation

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT We present two pediatric cases of pediatric low‐grade gliomas (PLGG) with BRAF V600E mutations diagnosed and monitored using cerebrospinal fluid (CSF) liquid biopsy analyzed via digital droplet PCR (ddPCR), without tissue biopsy. Both patients were treated with dabrafenib and trametinib and monitored through clinical assessments, magnetic ...
Hannah Sultan   +5 more
wiley   +1 more source

High Drug Resistance Levels Compromise the Control of HIV Infection in Pediatric and Adult Populations in Bata, Equatorial Guinea

open access: yesViruses, 2022
A lack of HIV viral load (VL) and HIV drug resistance (HIVDR) monitoring in sub-Saharan Africa has led to an uncontrolled circulation of HIV-strains with drug resistance mutations (DRM), compromising antiretroviral therapy (ART). This study updates HIVDR
Ana Rodríguez-Galet   +9 more
doaj   +1 more source

Detection of BCR-ABL kinase domain mutations in CD34+ cells from newly diagnosed chronic phase CML patients and their association with imatinib resistance [PDF]

open access: yes, 2011
BCR-ABL kinase domain (KD) mutations, the most common cause of imatinib resistance, are infrequently detected in newly diagnosed chronic-phase chronic myeloid leukemia (CP-CML) patients.
Aamer Aleem   +19 more
core   +1 more source

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