Results 101 to 110 of about 1,217 (167)

A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type

, 2022
Objective: Genetic variants in EFTUD2 were proven to influence variable phenotypic expressivity in mandibulofacial dysostosis Guion-Almeida type (MFDGA) or mandibulofacial dysostosis with microcephaly (MFDM).
Istifiani, Lola Ayu, Shodry, Syifaus, Ayudianti, Prida, Soraya, Gita Vita, Herawangsa, Sarah, Tse, William Ka Fai, Pamungkas, Syafrizal Aji, Ulhaq, Zulvikar Syambani, Arisanti, Ditya, Kusuma, Muhammad A’raaf Sirojan, Idaiani, Sri, Nurputra, Dian Kesumapramudya, Dini, Badariyatud, Astari, Lina Fitria, Hasan, Yuliono Trika Nur   +14 more
core  

Silencing U5 snRNP components enhances DENV replication.

, 2016
(A) Reporter DENV replication in A549 cells transfected with siRNA directed to spliceosomal proteins (CD2BP2, DDX23, SNRNP40, PRPF8, EFTUD2, SNRNP200 or SF3A2). An infectious DENV carrying the luciferase gene was used. Three controls were included: a non-
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

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

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, Christian, Avila-Fernandez, Almudena, Ascari, Giulia, Manes, Gaël, Rivolta, Carlo, Berson, Eliot L., Ayuso, Carmen, Benaglio, Paola, Harper, Shyana, San Jose, Patricia Fernandez   +9 more
core   +1 more source

Whole-Exome Sequencing Revealed a Novel De Novo Pathogenic EFTUD2 Variant in Mandibulofacial Dysostosis, Guion-Almeida Type:Reinforcing Links to Choanal and Oesophageal Atresia

Mandibulofacial dysostosis type Guion-Almeida (MFDGA) is a rare autosomal dominant disorder characterized by malar and mandibular hypoplasia, microcephaly and diverse craniofacial and extracranial malformations, caused by pathogenic variants in the ...
Gorjizadeh, Nassim, van Dijk-Bos, Krista K; id_orcid, Jazayeri, Omid, Salehiomran, Mohammad Reza, Sinke, Richard J   +4 more
core   +1 more source

EFTUD2 on innate immunity

, 2016
Version of ...
Lin, Wenyu, Xiao, Fei, Zhu, Chuanlong
core   +2 more sources

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

Assembly of exon junction complexes on spliceosomes begins before spliceosome activation. [PDF]

Nucleic Acids Res
Abshire ET, Maquat LE.
europepmc   +1 more source

Neurochondrin promotes U5 snRNP maturation by regulating AAR2 release from PRPF8. [PDF]

Nucleic Acids Res
Ren T, Huang W, Wei G, Zhao H, Zhang Y, Yi J, Guo Z, Wang Y, Kuang J, Sheng Z, Zhang H, Zhang D.   +11 more
europepmc   +1 more source

A novel RNA-binding activity of ECD contributes to U5 snRNP stability and pre-mRNA splicing. [PDF]

Nucleic Acids Res
Raza M, Rajan AR, Kalluchi A, Mohapatra B, Saleem I, Kennedy BB, Bhakat KK, Band H, Rowley MJ, Band V.   +9 more
europepmc   +1 more source