Results 61 to 70 of about 1,172 (162)
MOESM4 of EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway [PDF]
, 2019 Additional file 4: Figure S3. Zebrafish with eftud2 gene knockdown showed aberrant cartilage development. A, B: Larvae treated with an eftud2 morpholino (EMO) at 3dpf exhibited disrupted formation of Meckel’s cartilage (a) and the ceratohyals (b) upon ...
Lishun Wang (6542) +8 more
core +1 more source
BMC Cancer, 2021 Background RNA-binding proteins (RBPs) play crucial and multifaceted roles in post-transcriptional regulation. While RBPs dysregulation is involved in tumorigenesis and progression, little is known about the role of RBPs in bladder cancer (BLCA ...
Fengxia Chen +2 more
doaj +1 more source
Caspase‐mediated cleavage events hidden by secondary proteolysis during apoptosis
Protein Science, Volume 35, Issue 8, August 2026.Abstract Caspases are cysteine proteases that cleave specific proteins to control a range of cellular processes including cell death, inflammation, and differentiation. Proteomic approaches, like N‐terminomics, have been central to identifying both cleaved proteins and where they are cleaved.
Fatemeh Fotouhi +4 more
wiley +1 more source
Genotype of mice weaned after breeding of Eftud2+/- and wild-type mice. [PDF]
, 2019 Genotype of mice weaned after breeding of Eftud2+/- and wild-type mice.
Anissa Djedid (6919970) +6 more
core +1 more source
Prenatal Diagnosis, Volume 46, Issue 5-6, Page 780-818, May 2026.ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa +7 more
wiley +1 more source
HER2:EFTUD2 digital PCR has high accuracy compared to conventionally defined HER2 status. [PDF]
, 2013 HER2:EFTUD2 ratio was assessed by digital PCR on DNA from 18 HER2 amplified and 58 HER2 non-amplified cancers demonstrating the narrow range of HER2:EFTUD2 ratios in non-amplified cancers.
Isaac Garcia-Murillas (502434) +2 more
core +1 more source
Birth Defects Research, Volume 118, Issue 3, March 2026.ABSTRACT Background No consistent genetic etiology has been found for a group of six different conditions in humans with multiple malformations called “recurrent constellations of embryonic malformations” (RCEM). Recent studies indicate hypoxia/reoxygenation and generation Reactive Oxygen Species (ROS) as an underlying mechanism for RCEM with the ...
Aaron P. Adam +3 more
wiley +1 more source
MOESM3 of EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway [PDF]
, 2019 Additional file 3: Figure S2. Targeting site and efficacy of eftud2-targeted TALEN mRNAs. We also prepared three TALENs to construct the knockout zebrafish model, and the second one (T2) was the most effective for in vitro screening. A, B: The TALEN (T2)
Lishun Wang (6542) +8 more
core +1 more source
Differential affinity of multifunctional RBPs for 5’ UTR structures often drives opposite quantitative TE effects. [PDF]
, 2021 (A) Box and violin plots with 5’ UTR lengths for positively and negatively correlated TE targets corresponding to DDX3X, EFTUD2, and PRPF8. (B) Box and violin plots with length normalized MFE scores for positively and negatively correlated TE targets. We
Jorge Ruiz-Orera (2543938) +3 more
core +1 more source
Protein Subdomain Enrichment of NUP155 Variants Identify a Novel Predicted Pathogenic Hotspot
Frontiers in Cardiovascular Medicine, 2020 Functional variants in nuclear envelope genes are implicated as underlying causes of cardiopathology. To examine the potential association of single nucleotide variants of nucleoporin genes with cardiac disease, we employed a prognostic scoring approach ...
Riley J. Leonard +8 more
doaj +1 more source