Results 61 to 70 of about 247,558 (284)
BMC Pediatrics, 2021 Background Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of chronic encephalopathies characterized by epilepsy with comorbid intellectual disability that are frequently associated with de novo nonsynonymous coding variants
Qingyun Kang +7 more
doaj +1 more source
Chinese Journal of Contemporary Neurology and Neurosurgery, 2021 Objective To summarize the clinical, muscle pathology and molecular biological features of late⁃onset glycogen storage disease type Ⅱ (GSDⅡ). Methods and Results Five patients with late⁃onset GSD Ⅱ diagnosed and treated in The Fifth Affiliated Hospital ...
WU Shi⁃tao +4 more
doaj +1 more source
Adenomatoid tumors of the male and female genital tract are defined by TRAF7 mutations that drive aberrant NF-kB pathway activation. [PDF]
, 2018 Adenomatoid tumors are the most common neoplasm of the epididymis, and histologically similar adenomatoid tumors also commonly arise in the uterus and fallopian tube.
Bastian, Boris C +13 more
core +1 more source
MMuFLR: missense mutation and frameshift location reporter [PDF]
Bioinformatics, 2013 Abstract Motivation: Cancer researchers seeking immunotherapy targets in cancer cells need tools to locate highly expressed proteins unique to cancer cells. Missense mutation and frameshift location reporter (MMuFLR), a Galaxy-based workflow, analyzes next-generation sequencing paired read RNA-seq output to reliably identify small ...
Susan K, Rathe +7 more
openaire +2 more sources
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
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
Comparison of TCGA and GENIE genomic datasets for the detection of clinically actionable alterations in breast cancer. [PDF]
, 2019 Whole exome sequencing (WES), targeted gene panel sequencing and single nucleotide polymorphism (SNP) arrays are increasingly used for the identification of actionable alterations that are critical to cancer care.
Carpten, John D +4 more
core +3 more sources
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
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
Investigation of the SH3BP2 Gene Mutation in Cherubism [PDF]
, 2008 Cherubism is a rare developmental lesion of the jaw that is generally inherited as an autosomal dominant trait. Recent studies have revealed point mutations in the SH3BP2 gene in cherubism patients.
Ahn, Sang-Gun +5 more
core +1 more source