Results 231 to 240 of about 775,451 (311)
New cell lines expanding the diversity of Ewing sarcoma models
International Journal of Cancer, EarlyView.What's New? A chromosomal translocation between the EWSR1 and ETS genes is the key oncogenic driver in Ewing sarcoma. EWSR1::FLI1, the most frequent fusion, is subdivided into different fusion types with unclear prognostic relevance. Here, the authors describe the establishment and characterization of four new, intrinsically immortal, patient‐derived ...
Maximilian Kerkhoff +13 more
wiley +1 more source
International Journal of Gynecology &Obstetrics, Volume 169, Issue 1, Page 112-120, April 2025.Abstract Objective In the present study, a bidirectional two‐sample Mendelian randomization approach was utilized to explore potential causal relationships between mitochondrial DNA copy number (mtDNA‐CN) and ovary‐related reproductive disorders (ORRDs), including ovarian dysfunction, ovarian cyst, polycystic ovary syndrome (PCOS), premature ovarian ...
Ke Peng +4 more
wiley +1 more source
Uncovering the role of genetic polymorphisms in cervical insufficiency
International Journal of Gynecology &Obstetrics, EarlyView.Pathways and genes implicated in CI pathogenesis. Abstract Cervical insufficiency (CI) is characterized by spontaneous dilation of the cervix in the absence of painful uterine contractions in the mid‐trimester, leading to premature delivery. It is responsible for up to 20% of second trimester pregnancy losses, mostly <24 weeks.
Kallirhoe Kalinderi +3 more
wiley +1 more source
New insights into applications of base editor in hereditary disorders
Interdisciplinary Medicine, EarlyView.Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai +8 more
wiley +1 more source
Detection of expanded RNA repeats using thermostable group II intron reverse transcriptase. [PDF]
Nucleic Acids Res, 2018 Carrell ST +4 more
europepmc +1 more source
Journal of Experimental Zoology Part B: Molecular and Developmental Evolution, EarlyView.The major silk gene, h‐fibroin, was annotated in high‐quality genomes of two unusual case‐making Trichoptera. H‐Fibroin of Limnocentropus insolitus shows a similar amino acid composition to other case‐making species, while the amino acid composition of h‐fibroin of Phryganopsyche brunnea resembles that of retreat‐making species.
Xiling Deng +4 more
wiley +1 more source
Journal of Experimental Zoology Part B: Molecular and Developmental Evolution, EarlyView.Despite lacking DNMT3, EM‐seq revealed CpG methylation in the Colorado potato beetle. CUT&Tag analysis showed an association of H3K36me3 and H3K27ac with transcription, with H3K36me3 mirroring CpG methylation, demonstrating epigenetic flexibility.
Zoe M. Länger +6 more
wiley +1 more source
The group II intron maturase: a reverse transcriptase and splicing factor go hand in hand. [PDF]
Curr Opin Struct Biol, 2017 Zhao C, Pyle AM.
europepmc +1 more source
Compound Heterozygous Structural Variants in Cases with Unsolved PRKN‐Associated Parkinson's Disease
Movement Disorders, EarlyView.Abstract Background Biallelic mutations in the PRKN gene are a common cause of early‐onset Parkinson's disease (EOPD). In addition to single nucleotide variants, structural variants contribute substantially to the mutational profile of PRKN. A significant portion of patients with EOPD remains genetically unsolved.
Agata Fant +24 more
wiley +1 more source