Results 51 to 60 of about 255,701 (284)
Molecular Oncology, EarlyView.Plasma‐based detection of actionable mutations is a promising approach in lung cancer management. Analysis of ctDNA with a multigene NGS panel identified TP53, KRAS, and EGFR as the most frequently altered, with TP53 and KRAS in treatment‐naïve patients and TP53 and EGFR in previously treated patients.
Giovanna Maria Stanfoca Casagrande +11 more
wiley +1 more source
Romanian Journal of Laboratory Medicine, 2019 Background: Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) caused by SERPING1 mutations is a rare monogenic disorder characterized by a high frequency of de novo mutations, allelic heterogeneity and populational differences.
Gábos Gabriella +7 more
doaj +1 more source
Novel Heterozygous Sequence Variant in the HOXD13 Gene Underlie Non-syndromic Syndactyly
Journal of Biochemical and Clinical Genetics, 2023 Background: The term "Syndactyly" referred to an inherited deformity of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached and mostly inherited in an autosomal dominant manner.
Safdar Abbas +5 more
doaj +1 more source
Molecular Oncology, EarlyView.HDAC4 is degraded by the E3 ligase FBXW7. In colorectal cancer, FBXW7 mutations prevent HDAC4 degradation, leading to oxaliplatin resistance. Forced degradation of HDAC4 using a PROTAC compound restores drug sensitivity by resetting the super‐enhancer landscape, reprogramming the epigenetic state of FBXW7‐mutated cells to resemble oxaliplatin ...
Vanessa Tolotto +13 more
wiley +1 more source
A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia. [PDF]
PLoS ONE, 2017 OBJECTIVE:N-methyl-D-aspartate receptors (NMDAR) subunit GRIN2A/GluN2A mutations have been identified in patients with various neurological diseases, such as epilepsy and intellectual disability / developmental delay (ID/DD).
Kai Gao +11 more
doaj +1 more source
Effect of chemotherapy on passenger mutations in metastatic colorectal cancer
Molecular Oncology, EarlyView.Changes in passenger mutation load and predicted immunotherapy response after chemotherapy treatment. Tumor cells rich with passenger mutations have increased sensitivity to chemotherapy. Correlation of passenger mutations with neoantigen load suggests highly mutated clones promote a more effective response to immunotherapy, and therefore, first‐line ...
Marium T. Siddiqui +6 more
wiley +1 more source
Preliminary study on the function of the POLD1 (CDC2) EXON2 c.56G>A mutation
Molecular Genetics & Genomic Medicine, 2020 Background Fanconi anemia (FA) is a rare recessive disease characterized by DNA damage repair deficiency, and DNA polymerase δ (whose catalytic subunit is encoded by POLD1, also known as CDC2) is closely related to DNA damage repair.
Jing Liu +7 more
doaj +1 more source
Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies [PDF]
, 2018 Objective: The aim of this study was the clinical and molecular characterization of a family segregating a trait consisting of a phenotype specifically involving the maxillary canines, including agenesis, impaction and ectopic eruption, characterized by ...
Barbato, Ersilia +12 more
core +1 more source
Molecular Oncology, EarlyView.We show that the majority of the 18 analyzed recurrent cancer‐associated ERBB4 mutations are transforming. The most potent mutations are activating, co‐operate with other ERBB receptors, and are sensitive to pan‐ERBB inhibitors. Activating ERBB4 mutations also promote therapy resistance in EGFR‐mutant lung cancer.
Veera K. Ojala +15 more
wiley +1 more source
BMC Medical Genetics, 2017 Background Low-frequency nonsyndromic hearing loss (LF-NSHL) is a rare, inherited disorder. Here, we report a family with LF-NSHL in whom a missense mutation was found in the Wolfram syndrome 1 (WFS1) gene.
Hye Ji Choi +7 more
doaj +1 more source