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
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
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
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
Missense mutations of human homeoboxes: A review [PDF]
Human Mutation, 2001 The homeodomain (encoded by the homeobox) is the DNA-binding domain of a large variety of transcriptional regulators involved in controlling cell fate decisions and development. Mutations of homeobox-containing genes cause several diseases in humans. A variety of missense mutations giving rise to human diseases have been described.
D'Elia AV +5 more
openaire +3 more sources
The Missense Mutation In ARSA Gene Causes The Juvenile Form Of MLD [PDF]
, 2022 Ilhem Barboura +4 more
openalex +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
Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages [PDF]
, 2017 Dystrophic epidermolysis bullosa is a heritable skin disease manifesting with sub-lamina densa blistering, erosions, and chronic ulcers. COL7A1, encoding type VII collagen, has been identified as the candidate gene for dystrophic epidermolysis bullosa. In
Abiri, Maryam +11 more
core +1 more source