A novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia A [PDF]
Vivian Chan, TK Chan, TM Tong, D. Todd
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ExonSurfer: a web-tool to design primers at exon–exon junctions
Abstract Background Reverse transcription quantitative PCR (RT-qPCR) with intercalating dyes is one of the main techniques to assess gene expression levels used in basic and applied research as well as in diagnostics. However, primer design for RT-qPCR can be complex due to the high demands on primer quality.
Pablo Monfort-Lanzas+8 more
openaire +3 more sources
USP10 Inhibits Ferroptosis via Deubiquinating POLR2A in Head and Neck Squamous Cell Carcinoma
This study identifies USP10 as a novel deubiquitinase that antagonizes ferroptosis in head and neck squamous cell carcinoma (HNSCC). Mechanistically, USP10 directly stabilizes POLR2A protein through post‐translational deubiquitination, enabling POLR2A‐mediated transcriptional activation of SLC7A11, a key ferroptosis inhibitor.
Diekuo Zhang+13 more
wiley +1 more source
cDNA and Gene Analyses Imply a Novel Structure for a Rat Carcinoembryonic Antigen-related Protein [PDF]
The gene encoding the human tumor marker carcinoembryonic antigen (CEA) belongs to a gene family which can be subdivided into the CEA and the pregnancy-specific glycoprotein subgroups.
Lucas, Kurt+3 more
core
GT to AT transition at a splice donor site causes skipping of the preceding exon in Phenylketonuria [PDF]
Joshua Marvit+5 more
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IncRNA‐ZFAS1, an Emerging Gate‐Keeper in DNA Damage‐Dependent Transcriptional Regulation
LncZFAS1 plays a crucial role during DNA damage response in mammalian cells. Loss of lncZFAS1 results in deficient DNA lesion removal and reduced cell viability. Mechanistically, lncZFAS1 modulates RNAPII phosphorylation and transcription and thereby promotes both GG‐NER and TC‐NER upon UV damage.
Jiena Liu+10 more
wiley +1 more source
Sequence and exon-intron organization of the DNA encoding the alpha I domain of human spectrin. Application to the study of mutations causing hereditary elliptocytosis. [PDF]
Kenneth E. Sahr+8 more
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Sympathetic nerve innervation promotes the progression of Epstein‐Barr virus‐positive diffuse large B‐cell lymphoma (EBV+ DLBCL) via β2‐adrenergic receptors. The discovery of enhanced nerve infiltration and β2AR expression reveals a novel mechanism and highlights the sympathetic–β2AR axis as a promising target for therapeutic intervention in EBV+ DLBCL.
Silan Huang+10 more
wiley +1 more source
ACLY is vital for early embryo development. IGF‐1 activates AKT to phosphorylate ACLY, driving its nuclear localization and recruitment of HATs (P300/HAT1), boosting acetyl‐CoA production and histone acetylation for transcriptional activation. Conversely, ACLY deficiency (via knockdown, knockout, or AKT inhibition) reduces nuclear acetyl‐CoA, disrupts ...
Yerong Ma+18 more
wiley +1 more source
Nucleotide sequence and organization of the mouse adenine phosphoribosyltransferase gene: presence of a coding region common to animal and bacterial phosphoribosyltransferases that has a variable intron/exon arrangement. [PDF]
Michael Dush+4 more
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