Pitfalls in the diagnosis of apparent homozygous mutations: two cases of IL10RA deficiency inflammatory bowel disease and a literature review. [PDF]
Shi X+8 more
europepmc +1 more source
This study reveals that Testosterone–Androgen Receptor signaling delays elderly male bone destruction by upregulation of the osteoblastic extracellular tenascin‐C (TNC). The osteoprotective effect of fibrinogen C‐terminus of TNC is demonstrated in male osteoporotic mice model that osteoblast‐specific Ar‐knockout, potentially via inhibition of ...
Yong Xie+8 more
wiley +1 more source
Novel <i>FRMD6::PTH</i> chimera in tumorous bone lesion carrying a t(4;11;14;12)(q35;p15;q22;q13). [PDF]
Panagopoulos I+4 more
europepmc +1 more source
Chick α tropomyosin gene contains three sets of mutually exclusive alternatively spliced exons
Marguerite Lemonnier+2 more
openalex +2 more sources
Does steric interference between splice sites block the splicing of a short c-src neuron-specific exon in non-neuronal cells? [PDF]
Douglas L. Black
openalex +1 more source
A Prion‐Like Domain in EBV EBNA1 Promotes Phase Separation and Enables SRRM1 Splicing
This study discoveries that EBV EBNA1 behaves as a prion‐like protein, verified using cell‐based assays and the Saccharomyces cerevisiae Sup35p prion identification system. The prion‐like domain of EBNA1 drives liquid–liquid phase separation. EBNA1 interacts with the splicing factor SRSF1 to regulate the expression of the SRRM1 splicing isoforms ...
Xiaoyue Zhang+17 more
wiley +1 more source
Navigating beyond the surface - prognostic significance of KRAS, NRAS, BRAF, PIK3CA, and TP53 mutations examined by exons. [PDF]
Afrăsânie VA+13 more
europepmc +1 more source
Identification of a Novel Neuronal C-SRC Exon Expressed in Human Brain [PDF]
J M Pyper, Joseph B. Bolen
openalex +1 more source
This study demonstrates that mutant FAT1 promotes ASCL2‐driven, CPT1A‐dependent fatty acid oxidation, leading to resistance to CPI‐613‐mediated TCA cycle inhibition in head and neck cancer. In vivo gene depletion of mutant FAT1 with LNP‐sgFAT1 suppresses tumor growth and restores CPI‐613 sensitivity, revealing a targetable metabolic bypass with ...
Fanghui Chen+11 more
wiley +1 more source
Alternative splicing in the RBMXL1 5'-UTR induces uORF-mediated translation control in activated B lymphocytes. [PDF]
de Breyne S+5 more
europepmc +1 more source