Results 91 to 100 of about 1,217 (167)

MOESM5 of EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway

, 2019
Additional file 5: Figure S4. EFTUD2 gene knockdown in HC-a. A: Expression of EFTUD2 mRNA in HC-a cells transfected with sh2 and sh3 lentivirus was lower than that in the shNT control.B: Protein expression of EFTUD2 decreased in HC-a cells transfected ...
Lishun Wang (6542), You He (273437), Yu An (133201), Qiang Li (8118), Chengjun Sun (1901482), Jing Wu (54032), Feihong Luo (612837), Xu Wang (28596), Yi Yang (116183)   +8 more
core   +1 more source

MOESM3 of EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway

, 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), You He (273437), Yu An (133201), Qiang Li (8118), Chengjun Sun (1901482), Jing Wu (54032), Feihong Luo (612837), Xu Wang (28596), Yi Yang (116183)   +8 more
core   +1 more source

Genotype of embryos after mating of Eftud2^+/- and wild-type mice on the C57BL/6 genetic background.

, 2019
Genotype of embryos after mating of Eftud2+/- and wild-type mice on the C57BL/6 genetic background.
Anissa Djedid (6919970), Shruti Kumar (6919979), Kayla Clokie (6919976), Marie-Claude Beauchamp (3476816), Jacek Majewski (65417), Loydie Anne Jerome-Majewska (6919982), Kevin Daupin (6919973)   +6 more
core   +1 more source

Representative images from in situ hybridation (ISH) showing Eftud2 expression in wild-type CD1 embryos at various developmental stages.

, 2019
A) Wholemount ISH on E7.5 embryos using antisense (A1-A2) and sense probes (A3). Eftud2 is expressed in both embryonic (em) and extra-embryonic (ex) region. Eftud2 is found in headfold (hf), primitive streak (ps), amnion (am), allantois (al), chorion (c)
Anissa Djedid (6919970), Shruti Kumar (6919979), Kayla Clokie (6919976), Marie-Claude Beauchamp (3476816), Jacek Majewski (65417), Loydie Anne Jerome-Majewska (6919982), Kevin Daupin (6919973)   +6 more
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EFTUD2 and PTBP1 mRNAs as biomarkers for cognitive decline in PD.

, 2015
A. Relative abundance of EFTUD2 in PD patients with normal cognition (circles) compared to PD patients with mild cognitive impairment (triangles). B. Relative abundance of PTBP1 in PD patients with normal cognition (circles) compared to PD patients with ...
Judith A. Potashkin (78869), Jose A. Santiago (141219)   +1 more
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Integrative prenatal imaging and genomic testing in fetal congenital heart defects: Insights from a 30-year retrospective study

Taiwanese Journal of Obstetrics & Gynecology
Objective: To assess the combined role of prenatal imaging and stepwise genetic testing in diagnosing fetal congenital heart defects (CHDs) over a 30-year period, focusing on CHD subtypes, extracardiac anomalies, and diagnostic yield.
Jenn-Jhy Tseng, Shen-Ling Jan
doaj   +1 more source

Disease modelling of core pre-mRNA splicing factor haploinsufficiency

, 2019
The craniofacial disorder Mandibulofacial Dysostosis Guion-Almedia type is caused by haploinsufficiency of the U5 snRNP gene EFTUD2/SNU114. However, it is unclear how reduced expression of this core pre-mRNA splicing factor leads to craniofacial defects.
Thomas, Huw, Shaikh Qureshi, Wasay Mohiuddin, Wood, Katherine, Hubbard, Simon; id_orcid, Buczek, Weronika, Newman, William; id_orcid, Hentges, Kathryn; id_orcid, Briggs, Tracy; id_orcid, O'Keefe, Raymond; id_orcid, Rowland, Charlie F.   +9 more
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Supplementary Figure 6 from Noninvasive Detection of HER2 Amplification with Plasma DNA Digital PCR

, 2013
PDF File - 694K, Comparison between EFTUD2 and UBBP4 reference probes on patient plasma samples.
Heidrun Gevensleben (3308331), Ian E. Smith (1545553), Peter Osin (69447), Isaac Garcia-Murillas (502434), Gaia Schiavon (125070), Nicholas C. Turner (14875830), Monika K. Graeser (14986586), Alan Ashworth (1270), Marina Parton (14981879)   +8 more
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Prenatal Ultrasound and Genetic Diagnosis of EFTUD2 Haploinsufficiency in Two Fetuses: A Case Series

The Application of Clinical Genetics
Agata Kucińska,1 Lech Dudarewicz,1 Beata Anna Nowakowska,2 Maciej Geremek,2 Urszula Wysocka,1 Łukasz Przesór,1 Dobromiła Barańska,3 Piotr Grzelak,3 Agnieszka Gach1 1Department of Genetics, Polish Mother’s ...
Kucińska A, Dudarewicz L, Nowakowska BA, Geremek M, Wysocka U, Przesór Ł, Barańska D, Grzelak P, Gach A   +8 more
doaj  

Supplementary Figure 4 from Noninvasive Detection of HER2 Amplification with Plasma DNA Digital PCR

, 2013
PDF File - 438K, HER2 : EFTUD2 copy number ratio in validation cohort.
Heidrun Gevensleben (3308331), Ian E. Smith (1545553), Peter Osin (69447), Isaac Garcia-Murillas (502434), Gaia Schiavon (125070), Nicholas C. Turner (14875830), Monika K. Graeser (14986586), Alan Ashworth (1270), Marina Parton (14981879)   +8 more
core   +1 more source