Results 11 to 20 of about 1,217 (167)

Novel Splice Site Pathogenic Variant of EFTUD2 Is Associated with Mandibulofacial Dysostosis with Microcephaly and Extracranial Symptoms in Korea [PDF]

Diagnostics, 2020
Elongation factor Tu guanosine-5’-triphosphate (GTP) binding domain containing 2 (EFTUD2) encodes a major component of the spliceosomal GTPase and, if mutated, causes mandibulofacial dysostosis with microcephaly (MFDM; MIM#610536). Despite the increasing
So Young Kim, Da-hye Lee, Jin Hee Han, Byung Yoon Choi   +3 more
doaj   +4 more sources

Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2 [PDF]

Molecular Genetics & Genomic Medicine
Background Mandibulofacial dysostosis with microcephaly (MFDM, OMIM# 610536) is a rare monogenic disease that is caused by a mutation in the elongation factor Tu GTP binding domain containing 2 gene (EFTUD2, OMIM* 603892).
Ying Chen, Run Yang, Xin Chen, Naier Lin, Chenlong Li, Yaoyao Fu, Aijuan He, Yimin Wang, Tianyu Zhang, Jing Ma   +9 more
doaj   +4 more sources

Spliceosomal GTPase Eftud2 regulates microglial activation and polarization

Neural Regeneration Research, 2023
Elongation factor Tu GTP binding domain protein 2 (Eftud2) is a spliceosomal GTPase that serves as an innate immune modulator restricting virus infection.
Guo-Chao Yang, Yuan Shi, Chao-Nan Fan, Ying Li, Meng-Qi Yuan, Jie Pei, Yan Wu, Hai-Tao Wu   +7 more
doaj   +3 more sources

High RIG-I and EFTUD2 expression predicts poor survival in endometrial cancer [PDF]

Journal of Cancer Research and Clinical Oncology, 2022
Abstract Purpose Endometrial cancer is the most common gynecological malignancy. The helicase RIG-I, a part of the innate immune system, and EFTUD2, a splicing factor which can upregulate RIG-I expression, are shown to influence tumor growth and disease progression in several malignancies.
Beyer, Susanne, Müller, Lena, Mitter, Sophie, Keilmann, Lucia, Meister, Sarah, Buschmann, Christina, Kraus, Fabian, Topalov, Nicole E., Czogalla, Bastian, Trillsch, Fabian, Burges, Alexander, Mahner, Sven, Schmoeckel, Elisa, Löb, Sanja, Corradini, Stefanie, Kessler, Mirjana, Jeschke, Udo, Kolben, Thomas   +17 more
openaire   +4 more sources

PROM1 and EFTUD2 Expression in High-Grade Clear Cell Renal Cell Carcinoma as a Molecular Marker for Survival Rate [PDF]

International Journal of Molecular Sciences
Clear cell renal cell carcinoma (ccRCC) is a significant global cancer, particularly impacting individuals in Western countries. Despite that, the molecular mechanisms driving renal cell carcinoma progression remain poorly understood, highlighting the ...
Michał Kasperczak
exaly   +3 more sources

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

Journal of Medical Genetics, 2012
Background: Oesophageal atresia (OA) and mandibulofacial dysostosis (MFD) are two congenital malformations for which the molecular bases of syndromic forms are being identified at a rapid rate. In particular, the EFTUD2 gene encoding a protein of the spliceosome complex has been found mutated in patients with MFD ...
Gordon, Christopher T., Petit, Florence, Oufadem, Myriam, Decaestecker, Charles, Jourdain, Anne-Sophie, Andrieux, Joris, Malan, Valérie, Alessandri, Jean-Luc, Baujat, Geneviève, Baumann, Clarisse, Boute-Benejean, Odile, Caumes, Roseline, Delobel, Bruno, Dieterich, Klaus, Gaillard, Dominique, Gonzales, Marie, Lacombe, Didier, Escande, Fabienne, Manouvrier-Hanu, Sylvie, Marlin, Sandrine, Mathieu-Dramard, Michèle, Mehta, Sarju G., Simonic, Ingrid, Munnich, Arnold, Vekemans, Michel, Porchet, Nicole, de Pontual, Loïc, Sarnacki, Sabine, Attié-Bitach, Tania, Lyonnet, Stanislas, Holder-Espinasse, Muriel, Amiel, Jeanne   +31 more
openaire   +6 more sources

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly [PDF]

The American Journal of Human Genetics, 2012
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare sporadic syndrome comprising craniofacial malformations, microcephaly, developmental delay, and a recognizable dysmorphic appearance. Major sequelae, including choanal atresia, sensorineural hearing loss, and cleft palate, each occur in a significant proportion of affected individuals.
Lines, Matthew A., Huang, Lijia, Schwartzentruber, Jeremy, Douglas, Stuart L., Lynch, Danielle C., Beaulieu, Chandree, Guion-Almeida, Maria Leine, Zechi-Ceide, Roseli Maria, Gener, Blanca, Gillessen-Kaesbach, Gabriele, Nava, Caroline, Baujat, Genevieve, Horn, Denise, Kini, Usha, Caliebe, Almuth, Alanay, Yasemin, Utine, Gulen Eda, Lev, Dorit, Kohlhase, Jurgen, Grix, Arthur W., Lohmann, Dietmar R., Hehr, Ute, Boehm, Detlef, Majewski, Jacek, Bulman, Dennis E., Wieczorek, Dagmar, Boycott, Kym M., Consortium, F.O.R.G.E. Canada   +27 more
openaire   +5 more sources

EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion‐Almeida type [PDF]

Human Mutation, 2020
Pathogenic variants in the core spliceosome U5 small nuclear ribonucleoprotein gene EFTUD2/SNU114 cause the craniofacial disorder mandibulofacial dysostosis Guion-Almeida type (MFDGA). MFDGA-associated variants in EFTUD2 comprise large deletions encompassing EFTUD2, intragenic deletions and single nucleotide truncating or missense variants.
Huw B. Thomas, Katherine A. Wood, Weronika A. Buczek, Christopher T. Gordon, Véronique Pingault, Tania Attié‐Bitach, Kathryn E. Hentges, Vinod C. Varghese, Jeanne Amiel, William G. Newman, Raymond T. O'Keefe   +10 more
openaire   +3 more sources

U5 snRNP Core Proteins Are Key Components of the Defense Response against Viral Infection through Their Roles in Programmed Cell Death and Interferon Induction

Viruses, 2022
The spliceosome is a massive ribonucleoprotein structure composed of five small nuclear ribonucleoprotein (snRNP) complexes that catalyze the removal of introns from pre-mature RNA during constitutive and alternative splicing. EFTUD2, PRPF8, and SNRNP200
Simon Boudreault, Guy Lemay, Martin Bisaillon   +2 more
doaj   +2 more sources

Spliceosomal protein eftud2 mutation leads to p53-dependent apoptosis in zebrafish neural progenitors [PDF]

Nucleic Acids Research, 2016
Haploinsufficiency of EFTUD2 (Elongation Factor Tu GTP Binding Domain Containing 2) is linked to human mandibulofacial dysostosis, Guion-Almeida type (MFDGA), but the underlying cellular and molecular mechanisms remain to be addressed. We report here the isolation, cloning and functional analysis of the mutated eftud2 (snu114) in a novel neuronal ...
Lei, Lei, Yan, Shou-Yu, Yang, Ran, Chen, Jia-Yu, Li, Yumei, Bu, Ye, Chang, Nannan, Zhou, Qinchao, Zhu, Xiaojun, Li, Chuan-Yun, Xiong, Jing-Wei   +10 more
openaire   +3 more sources