Results 91 to 100 of about 1,866,513 (309)
BRIP-1 germline mutation and its role in colon cancer: presentation of two case reports and review of literature. [PDF]
, 2019 BackgroundHereditary colon cancer is characterized by the inheritance of an abnormal gene mutation which predisposes to malignancy. Recent advances in genomic medicine have identified mutations in "novel" genes as conferring an increased risk of ...
Ali, Mir +2 more
core
FEBS Letters, EarlyView.We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley +1 more source
Reduced mutation rate and increased transformability of transposon-free Acinetobacter baylyi ADP1-ISx [PDF]
, 2017 The genomes of most bacteria contain mobile DNA elements that can contribute to undesirable genetic instability in engineered cells. In particular, transposable insertion sequence (IS) elements can rapidly inactivate genes that are important for a ...
Barrick, Jeffrey E +3 more
core +2 more sources
Rinsho Shinkeigaku, 2013 The advance of sequencing technology, the exome analysis using next-generation sequencing (NGS), of the human genome has dramatically accelerated biomedical research and about 2,900 causative gene tests are now available. The discoveries of the causative genes for hereditary neurodegenerative diseases accelerated the studies on the pathophysiologic ...
openaire +3 more sources
Tau acetylation at K331 has limited impact on tau pathology in vivo
FEBS Letters, EarlyView.We mapped tau post‐translational modifications in humanized MAPT knock‐in mice and in amyloid‐bearing double knock‐in mice. Acetylation within the repeat domain, particularly around K331, showed modest increases under amyloid pathology. To test functional relevance, we generated MAPTK331Q knock‐in mice.
Shoko Hashimoto +3 more
wiley +1 more source
PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism. [PDF]
, 2006 We analyzed the PINK1 gene in 58 patients with early-onset Parkinsonism and detected the homozygous mutation W437X in 1 patient. The clinical phenotype was characterized by early onset (22 years of age), good re- sponse to levodopa, early fluctuations ...
CRISCUOLO C +10 more
core
Apeced in Turkey: a case report and insights on genetic and phenotypic variability [PDF]
, 2018 APECED is a rare monogenic recessive disorder caused by mutations in the AIRE gene. In this manuscript, we report a male Turkish patient with APECED syndrome who presented with chronic mucocutaneous candidiasis associated with other autoimmune ...
Alessandra Fierabraccia +4 more
core +1 more source
Structural insights into an engineered feruloyl esterase with improved MHET degrading properties
FEBS Letters, EarlyView.A feruloyl esterase was engineered to mimic key features of MHETase, enhancing the degradation of PET oligomers. Structural and computational analysis reveal how a point mutation stabilizes the active site and reshapes the binding cleft, expading substrate scope.
Panagiota Karampa +5 more
wiley +1 more source
Chinese Journal of Lung Cancer, 2009 Background and objective It has been demonstrated that epidermal growth factor receptor (EGFR) signal pathway had an important role in the oncogenesis and development of non-small cell lung cancer (NSCLC). Small-molecule tyrosine kinase inhibitors (TKIs)
Qinghua ZHOU +12 more
doaj
Frontiers in OncologyBackgroundRecurrent genetic alterations contributing to leukemogenesis have been identified in pediatric B-cell Acute Lymphoblastic Leukemia (B-ALL), and some are useful for refining classification, prognosis, and treatment selection.
Joaquin Garcia-Solorio +40 more
doaj +1 more source