Results 71 to 80 of about 667,667 (355)
Molecular Oncology, EarlyView.Human cytomegalovirus infection is common in normal prostate epithelium, prostate tumor tissue, and prostate cancer cell lines. CMV promotes cell survival, proliferation, and androgen receptor signaling. Anti‐CMV pharmaceutical compounds in clinical use inhibited cell expansion in prostate cancer models in vitro and in vivo, motivating investigation ...
Johanna Classon +13 more
wiley +1 more source
Functional Characterization of Argininosuccinate Lyase Gene Variants by Mini-Gene Splicing Assay
Frontiers in Genetics, 2019 ObjectiveArgininosuccinate lyase (ASL) gene mutations account for argininosuccinic aciduria (ASA). This study aimed to design a minigene construct of ASL gene in order to investigate the impact of variants on splicing.MethodsThe peripheral blood samples ...
Yanyun Wang +5 more
doaj +1 more source
Molecular Oncology, EarlyView.In thyroid cancer patients, high‐dose (≥7.4 GBq) radioactive iodine therapy (RAIT) was associated with a higher prevalence of clonal hematopoiesis (variant allele frequency >2%) in individuals aged ≥50 years (OR = 2.44). In silico analyses showed that truncating PPM1D mutations conferred a selective advantage under these conditions.
Jaeryuk Kim +11 more
wiley +1 more source
Molecular Genetics & Genomic MedicineBackground Developmental dysplasia of the hip (DDH) is a prevalent congenital musculoskeletal disorder characterized by structural abnormalities of the hip joint.
Yan Miao +3 more
doaj +1 more source
Zhongguo shuxue zazhi[Objective] To screen the frequency of CD36 antigen expression in platelet donor database in Shaanxi province and analyze the molecular genetic characteristics of samples with CD36 antigen deficiency and low expression.
WANG Tianju +6 more
doaj +1 more source
Very severe spinal muscular atrophy (Type 0)
Avicenna Journal of Medicine, 2017 This case report describes a rare phenotype of very severe spinal muscular atrophy (SMA) in a newborn who presented with reduced fetal movements in utero and significant respiratory distress at birth.
Suleiman Al Dakhoul
doaj +1 more source
GenomeGraphs: integrated genomic data visualization with R. [PDF]
, 2009 BackgroundBiological studies involve a growing number of distinct high-throughput experiments to characterize samples of interest. There is a lack of methods to visualize these different genomic datasets in a versatile manner.
Bullard, James +3 more
core +3 more sources
Molecular Oncology, EarlyView.Proteomic and phosphoproteomic analyses were performed on lung adenocarcinoma (LUAD) tumors with EGFR, KRAS, or EML4–ALK alterations and wild‐type cases. Distinct protein expression and phosphorylation patterns were identified, especially in EGFR‐mutated tumors. Key altered pathways included vesicle transport and RNA splicing.
Fanni Bugyi +12 more
wiley +1 more source
Selecting informative features of human gene exons
Журнал Белорусского государственного университета: Математика, информатика, 2019 Dimensionality reduction of the human gene exon feature space is considered with the aim of gene identification. To evaluate the performance of various feature selection algorithms, computational experiments were carried out using the examples of exons ...
Andrei V. Volkau +2 more
doaj +1 more source
SAM68 is a physiological regulator of SMN2 splicing in spinal muscular atrophy [PDF]
, 2015 Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by loss of motor neurons in patients with null mutations in the SMN1 gene. The almost identical SMN2 gene is unable to compensate for this deficiency because of the skipping of exon 7 ...
Annalisa Nobili +51 more
core +2 more sources