Results 151 to 160 of about 1,902 (167)

Craniofacial Defects Persist in Eftud2 mutant mice with P53 Deletion

The FASEB Journal, 2022
EFTUD2 is mutated in patients with mandibulofacial dysostosis with microcephaly (MFDM). We previously showed that homozygous deletion of Eftud2 in neural crest cells causes brain and craniofacial malformations, affecting the same precursors as in MFDM patients.
Marie‐Claude Beauchamp, Alexia Boucher, Yanchen Dong, Loydie J. Majewska   +3 more
openaire   +1 more source

Over-activation of EFTUD2 correlates with tumor propagation and poor survival outcomes in hepatocellular carcinoma

Clinical and Translational Oncology, 2021
Elongation factor Tu GTP-binding domain containing 2 (EFTUD2) is an essential constituent of U5 small nuclear ribonucleoproteins (snRNPs) and plays a crucial role in spliceosome activation and cancer. The mechanism of EFTUD2 on carcinogenesis and development of liver cancer still need further study.Bioinformatic analysis was performed to find ...
C. Lv, X. J. Li, L. X. Hao, S. Zhang, Z. Song, X. D. Ji, B. Gong   +6 more
openaire   +2 more sources

Delineation ofEFTUD2Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients

Human Mutation, 2014
Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA ...
Daphné, Lehalle, Christopher T, Gordon, Myriam, Oufadem, Géraldine, Goudefroye, Lucile, Boutaud, Jean-Luc, Alessandri, Neus, Baena, Geneviève, Baujat, Clarisse, Baumann, Odile, Boute-Benejean, Roseline, Caumes, Charles, Decaestecker, Dominique, Gaillard, Alice, Goldenberg, Marie, Gonzales, Muriel, Holder-Espinasse, Marie-Line, Jacquemont, Didier, Lacombe, Sylvie, Manouvrier-Hanu, Sandrine, Marlin, Michèle, Mathieu-Dramard, Gilles, Morin, Laurent, Pasquier, Florence, Petit, Marlène, Rio, Robert, Smigiel, Christel, Thauvin-Robinet, Alexandre, Vasiljevic, Alain, Verloes, Valérie, Malan, Arnold, Munnich, Loïc, de Pontual, Michel, Vekemans, Stanislas, Lyonnet, Tania, Attié-Bitach, Jeanne, Amiel   +35 more
openaire   +2 more sources

Spliceosome protein EFTUD2 is upregulated in the trophoblast of spontaneous miscarriage and hydatidiform mole

Journal of Reproductive Immunology, 2020
Elongation factor Tu GTP binding domain containing 2 (EFTUD2) is an alternative splicing factor that modulates cell differentiation and activation processes. EFTUD2 is known to modulate immune responses and mutation of the EFTUD2-gene lead to fetal malformation.
Löb, Sanja, Vattai, Aurelia, Kuhn, Christina, Schmoeckel, Elisa, Mahner, Sven, Wöckel, Achim, Kolben, Thomas, Szekeres-Bartho, Julia, Jeschke, Udo, Vilsmaier, Theresa   +9 more
openaire   +3 more sources

A protective role for EFTUD2 in the brain

Neuron
In this issue of Neuron, Yang et al.1 report MFDM-like phenotypes in mice with deletion of Eftud2 in their Purkinje cells (PCs), namely cerebellar atrophy alongside motor and social deficits, similar to phenotypes observed in MFDM patients. The absence of Eftud2 caused mis-splicing of Atf4, reduced Scd1 and Gch1, and promoted ferroptosis-regulated PC ...
Marie-Claude Beauchamp, Loydie A. Jerome-Majewska   +1 more
openaire   +2 more sources

[Bioinformatic analysis of Eftud2 enhancing mouse macrophage function].

Xi bao yu fen zi mian yi xue za zhi = Chinese journal of cellular and molecular immunology, 2020
Objective To elucidate the mechanisms by which elongation factor Tu GTP binding domain containing 2 (Eftud2) enhances the immune function of murine macrophages by bioinformatics analysis. Methods The bone marrow-derived macrophages (BMDMs) of Eftud2 myeloid cell-specific knockout (MKO) mice (n=10) and wild-type (WT) littermates (n=10) were collected ...
Ying, Sun, Peng, Yang, Zhonglin, Lyu, Yuanqiang, Zheng, Yanchun, Shi, Guojiang, Chen   +5 more
openaire   +1 more source

Spliceosomal GTPase Eftud2 deficiency-triggered ferroptosis leads to Purkinje cell degeneration

Neuron
Spliceosomal GTPase elongation factor Tu GTP binding domain containing 2 (EFTUD2) is a causative gene for mandibulofacial dysostosis with microcephaly (MFDM) syndrome comprising cerebellar hypoplasia and motor dysfunction. How EFTUD2 deficiency contributes to these symptoms remains elusive.
Guochao, Yang, Yinghong, Yang, Zhihong, Song, Liping, Chen, Fengjiao, Liu, Ying, Li, Shaofei, Jiang, Saisai, Xue, Jie, Pei, Yan, Wu, Yuanlin, He, Bo, Chu, Haitao, Wu   +12 more
openaire   +2 more sources

Radioulnar Synostosis and Brain Abnormalities in a Patient with 17q21.31 Microdeletion Involving EFTUD2

The Cleft Palate Craniofacial Journal, 2015
Mandibulofacial dysostosis with microcephaly is a rare syndromic craniofacial condition caused by heterozygous loss-of-function mutations of the EFTUD2 gene on 17q21.31. Thus far, the described musculoskeletal findings in patients with this condition include proximally placed or duplicated thumbs, overlapping toes, and toe syndactyly.
Yuri A, Zarate, Carla, Bell, G Bradley, Schaefer   +2 more
openaire   +2 more sources

Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children

Clinical Dysmorphology, 2018
Mandibulofacial dysostosis type Guion-Almeida (MFDGA) is a rare disease entity that results in congenital craniofacial anomalies that are caused by abnormal development of the first and second pharyngeal arches. MFDGA is characterized by malar and mandibular hypoplasia, microcephaly, developmental delay, dysplastic ears, and a distinctive facial ...
Garcia-Barcelo, MM, Yu, KPT, Luk, HM, Gordon, CT, Fung, G, Oufadem, M, Amiel, J, Chung, BHY, Lo, FMI, Tan, TY   +9 more
openaire   +4 more sources

EFTUD2-Expression als unabhängiger Marker für das Überleben im Endometriumkarzinom

Geburtshilfe und Frauenheilkunde, 2022
S Beyer, L Müller, L Keilmann, S Meister, C Buschmann, TM Kolben, E Schmoeckel, A Burges, F Trillsch, B Czogalla, U Jeschke, M Kessler, S Mahner, T Kolben   +13 more
openaire   +1 more source