Results 41 to 50 of about 118,150 (263)
Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing [PDF]
Diabetes & Metabolism Journal, 2015 BackgroundAlström syndrome and Bardet-Biedl syndrome are autosomal recessively inherited ciliopathies with common characteristics of obesity, diabetes, and blindness.
Min Kyeong Kim +6 more
doaj +1 more source
Tumor mutational burden as a determinant of metastatic dissemination patterns
Molecular Oncology, EarlyView.This study performed a comprehensive analysis of genomic data to elucidate whether metastasis in certain organs share genetic characteristics regardless of cancer type. No robust mutational patterns were identified across different metastatic locations and cancer types.
Eduardo Candeal +4 more
wiley +1 more source
Advantages of Exome Sequencing Over Panel Testing for Individuals With a Seizure Indication
Annals of the Child Neurology SocietyObjective Our aim was to investigate the advantages of exome sequencing versus panel testing for patients with unexplained seizures. Methods We reviewed the diagnostic outcomes of exome sequencing by a commercial genetics laboratory for more than 16 000 ...
Michelle M. Morrow +8 more
doaj +1 more source
BMC Genomics, 2022 Exome sequencing is becoming a routine in health care, because it increases the chance of pinpointing the genetic cause of an individual patient's condition and thus making an accurate diagnosis.
Vera Belova +8 more
doaj +1 more source
Correlation of the differential expression of PIK3R1 and its spliced variant, p55α, in pan‐cancer
Molecular Oncology, EarlyView.PIK3R1 undergoes alternative splicing to generate the isoforms, p85α and p55α. By combining large patient datasets with laboratory experiments, we show that PIK3R1 spliced variants shape cancer behavior. While tumors lose the protective p85α isoform, p55α is overexpressed, changes linked to poorer survival and more pronounced in African American ...
Ishita Gupta +10 more
wiley +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023 Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei +4 more
wiley +1 more source
CEQer: a graphical tool for copy number and allelic imbalance detection from whole-exome sequencing data. [PDF]
PLoS ONE, 2013 Copy number alterations (CNA) are common events occurring in leukaemias and solid tumors. Comparative Genome Hybridization (CGH) is actually the gold standard technique to analyze CNAs; however, CGH analysis requires dedicated instruments and is able to ...
Rocco Piazza +10 more
doaj +1 more source
Molecular Oncology, EarlyView.Aldehyde dehydrogenase 1A1 (ALDH1A1) is a cancer stem cell marker in several malignancies. We established a novel epithelial cell line from rectal adenocarcinoma with unique overexpression of this enzyme. Genetic attenuation of ALDH1A1 led to increased invasive capacity and metastatic potential, the inhibition of proliferation activity, and ultimately ...
Martina Poturnajova +25 more
wiley +1 more source
Interrogating the immune landscape of microsatellite stable RAS‐mutated colon cancer
Molecular Oncology, EarlyView.COLOSSUS project RAS‐mutated MSS colon cancer study explored transcriptomics and immune cell density by immunohistochemistry (IHC), Immunoscore (IS), ISIC/TuLIS scores, mutation counts, and detected different prevalences but similar microenvironment composition across immune markers with clinical relevance for future immunotherapy combination ...
Rodrigo Dienstmann +61 more
wiley +1 more source
Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma
Molecular Oncology, EarlyView.The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic +5 more
wiley +1 more source