Results 101 to 110 of about 1,172 (162)

Abundance and localization of spliceosomal factors during DENV infection. [PDF]

, 2016
(A) Western blots showing the levels of splicing proteins CD2BP2, DDX23, EFTUD2, SNRNP40 or SF3A2 and STAT2 used as a control, at 48 h post-infection. (B) Nuclear localization of CD2BP2 or DDX23 and NS5 in DENV infected or mock infected cells.
Guillermo Risso (438757), Berta Pozzi (3091650), Anabella Srebrow (438758), Raul Andino (17309), Leopoldo G. Gebhard (324454), Priya Shah (579065), Andrea V. Gamarnik (322376), Pablo Mammi (3091638), Marcelo J. Yanovsky (3091641), Nestor G. Iglesias (369680), Federico A. De Maio (3091644), Estefania Mancini (3091647), Nevan Krogan (7571)   +12 more
core   +1 more source

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

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  

Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa. [PDF]

, 2014
PURPOSE: Mutations in genes encoding proteins from the tri-snRNP complex of the spliceosome account for more than 12% of cases of autosomal dominant retinitis pigmentosa (adRP).
Hamel, C., Berson, E.L., Avila-Fernandez, A., Manes, G., Rivolta, C., Benaglio, P., San Jose, P.F., Harper, S., Ascari, G., Ayuso, C.   +9 more
core   +3 more sources

Elevated VRK2 expression promotes the onset and progression of bronchiectasis

The Egyptian Journal of Bronchology
Background Today, the prevalence of bronchiectasis is on the rise worldwide and ranks third among chronic respiratory diseases, yet there is currently no standard treatment.
Shaochu Zheng, Yuting Huang, Kangkang Hong, Jinling Tang, Xiaopu Wu, Cao Qing, Yun Jiang, Wei Lu, Chongxi Bao, Jing Luo, Jinliang Kong   +10 more
doaj   +1 more source

EFTUD2 on innate immunity [PDF]

, 2016
Version of ...
Lin, Wenyu, Xiao, Fei, Zhu, Chuanlong
core  

Whole exome sequencing revealed a heterozygous elongation factor Tu GTP-binding domain containing 2 (EFTUD2) mutation in a couple experiencing recurrent pregnancy loss

Chinese Medical Journal, 2022
Mei Yang, Huaqin Sun, Yanyan Liu, Ting Hu, Jing Ni   +4 more
doaj   +1 more source

Co-translational determination of quaternary structures in chaperone factories. [PDF]

Nat Commun
Philippe M, Salloum S, Slimani F, Normanno D, Barbosa I, Chassé H, Robert MC, Urbach S, Imbert J, Séveno M, George S, Le Hir H, Boulon S, Verheggen C, Bertrand E.   +14 more
europepmc   +1 more source

Modeling craniofacial spliceosomopathies: a pathway toward deciphering disease mechanisms. [PDF]

Front Cell Dev Biol
Griffin C.
europepmc   +1 more source

Genetic characterization of pediatric B-cell acute lymphoblastic leukemia in Argentina uncovers molecular heterogeneity and novel variants. [PDF]

Front Pharmacol
Ruiz MS, Sosa E, Avendaño D, Gomez Mercado I, Lacreu ML, Riccheri C, Schuttenberg V, Aversa L, Vazquez E, Gueron G, Cotignola J.   +10 more
europepmc   +1 more source