Transcriptomic heterogeneity of driver gene mutations reveals novel mutual exclusivity and improves exploration of functional associations
Sign Up to like & getrecommendations! Published in 2021 at "Cancer Medicine"
DOI: 10.1002/cam4.4039
Abstract: Lung adenocarcinoma (LUAD), as the most common subtype of lung cancer, is the leading cause of cancer deaths in the world. The accumulation of driver gene mutations enables cancer cells to gradually acquire growth advantage.… read more here.
Keywords: cancer; transcriptomic heterogeneity; driver gene; gene mutations ... See more keywords
Co‐mutation landscape and clinical significance of RAS pathway related gene mutations in patients with myelodysplastic syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Hematological Oncology"
DOI: 10.1002/hon.3099
Abstract: Single gene mutations in the RAS pathway are uncommon and of unknown significance in myelodysplastic syndrome (MDS) patients, RAS pathway‐related gene mutations (RASwaymut) as a whole may be significant and require further elucidation. The clinical… read more here.
Keywords: gene mutations; ras pathway; pathway related; mds patients ... See more keywords
HOGA1 Gene Mutations of Primary Hyperoxaluria Type 3 in Tunisian Patients
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.22053
Abstract: Primary hyperoxaluria type 3 (PH3) is due to mutations in the recently identified 4‐hydroxy‐2‐oxoglutarate aldolase (HOGA1) gene. PH3 might be the least severe form with a milder phenotype with good preservation of kidney function in… read more here.
Keywords: gene mutations; primary hyperoxaluria; hyperoxaluria type; mutations primary ... See more keywords
Antibiotic resistance in Helicobacter pylori: From potential biomolecular mechanisms to clinical practice
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.24885
Abstract: Increasing rates of Helicobacter pylori resistance are associated with multiple clinical challenges. Bacterial factors linked to H. pylori resistance are mutations, efflux pumps, and biofilms. Gene mutations such as nucleic acid synthesis‐related gene mutations, rRNA coding… read more here.
Keywords: biomolecular mechanisms; pylori resistance; antibiotic resistance; gene mutations ... See more keywords
Association between the clinical presentation of congenital anomalies of the kidney and urinary tract (CAKUT) and gene mutations: an analysis of 66 patients at a single institution
Sign Up to like & getrecommendations! Published in 2019 at "Pediatric Nephrology"
DOI: 10.1007/s00467-019-04230-w
Abstract: BackgroundThe association between the clinical presentation of congenital anomalies of the kidney and urinary tract (CAKUT) and gene mutations has yet to be fully explored.MethodsIn this retrospective cohort study, we examined patients with CAKUT who… read more here.
Keywords: urinary tract; gene mutations; cakut; analysis ... See more keywords
Precision medicine and novel molecular target therapies in acute myeloid leukemia: the background of hematologic malignancies (HM)-SCREEN-Japan 01
Sign Up to like & getrecommendations! Published in 2019 at "International Journal of Clinical Oncology"
DOI: 10.1007/s10147-019-01467-1
Abstract: The development of allogeneic hematopoietic-stem-cell transplantation has improved the prognosis of younger acute myeloid leukemia (AML) patients. However, the outcome of older AML patients remains poor. The majority of AML patients are elderly. For elderly… read more here.
Keywords: medicine; gene mutations; aml patients; myeloid leukemia ... See more keywords
Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review.
Sign Up to like & getrecommendations! Published in 2021 at "Metabolic brain disease"
DOI: 10.1007/s11011-021-00698-4
Abstract: As one of the highest prevalence rates in the world, the prevalence of Phenylketonuria (PKU) in Iran has been estimated at 16.5 per 100,000 neonates. The objective of this study was to evaluate the spectrum… read more here.
Keywords: gene mutations; systematic review; gene; phenylketonuria ... See more keywords
LIPA gene mutations affect the composition of lipoproteins: Enrichment in ACAT-derived cholesteryl esters.
Sign Up to like & getrecommendations! Published in 2020 at "Atherosclerosis"
DOI: 10.1016/j.atherosclerosis.2020.01.026
Abstract: BACKGROUND AND AIMS Cholesteryl ester storage disease (CESD) due to LIPA gene mutations is characterized by hepatic steatosis, hypercholesterolemia and hypoalphalipoproteinemia, exposing affected patients to an increased cardiovascular risk. Further insights into the impact of… read more here.
Keywords: cesd patients; lipa gene; gene mutations; composition ... See more keywords
SARS-CoV-2 N gene mutations impact detection by clinical molecular diagnostics: reports in two cities in the United States
Sign Up to like & getrecommendations! Published in 2021 at "Diagnostic Microbiology and Infectious Disease"
DOI: 10.1016/j.diagmicrobio.2021.115468
Abstract: Nasal and nasopharyngeal swab specimens tested by the Cepheid Xpert Xpress SARS-CoV-2 were analyzed by whole-genome sequencing based on impaired detection of the N2 target. Each viral genome had at least one mutation in the… read more here.
Keywords: detection; gene mutations; mutations impact; cov gene ... See more keywords
Novel gene mutations in well-differentiated fetal adenocarcinoma of the lung in the next generation sequencing era.
Sign Up to like & getrecommendations! Published in 2018 at "Lung cancer"
DOI: 10.1016/j.lungcan.2018.07.016
Abstract: OBJECTIVES Since well-differentiated fetal adenocarcinoma of lung (WDFA) is an extremely rare subtype of invasive lung adenocarcinoma, histologic features, biomarkers and molecular aberrant of it are not fully determined. This article aims to investigate the… read more here.
Keywords: adenocarcinoma lung; gene mutations; well differentiated; gene ... See more keywords
Clinical spectrum and gene mutations in a Chinese cohort with anoctaminopathy
Sign Up to like & getrecommendations! Published in 2019 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2019.06.005
Abstract: Recessive mutations in anoctamin-5 (ANO5) are responsible for limb-girdle muscular dystrophy (LGMD) 2 L and non-dysferlin Miyoshi-like distal myopathy. ANO5 mutations are prevalent in European countries, however it is not common in patients of Asian origin… read more here.
Keywords: gene mutations; chinese cohort; spectrum gene; mutations chinese ... See more keywords