Results 121 to 130 of about 1,898 (155)

Astro-Versus Microglia-Enriched Transcriptomes from Aged <i>Atxn2</i>-CAG100-Knockin Mice Suggest Underlying Pathology of RNA Processing at Ribosomes, and Possibly at U-Bodies. [PDF]

Cells
Auburger G, Kandi AR, Vutukuri R, Almaguer-Mederos LE, Gispert S, Sen NE, Key J.   +6 more
europepmc   +1 more source

Monitoring changing patterns in HER2 addiction by liquid biopsy in advanced breast cancer patients. [PDF]

J Exp Clin Cancer Res
Giordani E, Allegretti M, Sinibaldi A, Michelotti F, Ferretti G, Ricciardi E, Ziccheddu G, Valenti F, Di Martino S, Ercolani C, Giannarelli D, Arpino G, Gori S, Omarini C, Zambelli A, Bria E, Paris I, Buglioni S, Giacomini P, Fabi A.   +19 more
europepmc   +1 more source

Facial Bone Defects Associated with Lateral Facial Clefts Tessier Type 6, 7 and 8 in Syndromic Neurocristopathies: A Detailed Micro-CT Analysis on Historical Museum Specimens. [PDF]

Biology (Basel)
Behunova J, Rehder H, Dobsak A, Kircher SG, Boer LL, Mueller AA, Patsch JM, Winter E, Oostra RJ, Piehslinger E, Reich KM.   +10 more
europepmc   +1 more source

The Core Splicing Factors EFTUD2, SNRPB and TXNL4A Are Essential for Neural Crest and Craniofacial Development

Journal of Developmental Biology, 2022
Mandibulofacial dysostosis (MFD) is a human congenital disorder characterized by hypoplastic neural-crest-derived craniofacial bones often associated with outer and middle ear defects. There is growing evidence that mutations in components of the spliceosome are a major cause for MFD.
Byung-Yong Park, Chibuike Ihewulezi, Arun Devotta   +2 more
exaly   +4 more sources

Some of the next articles are maybe not open access.

Related searches:

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.
Sanja Lob, Aurelia Vattai, Elisa Schmoeckel   +2 more
exaly   +4 more sources

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, Zhiwei Song, B Gong
exaly   +3 more sources

Craniofacial Defects in Embryos with Homozygous Deletion of Eftud2 in Their Neural Crest Cells Are Not Rescued by Trp53 Deletion

International Journal of Molecular Sciences, 2022
Embryos with homozygous mutation of Eftud2 in their neural crest cells (Eftud2ncc−/−) have brain and craniofacial malformations, hyperactivation of the P53-pathway and die before birth. Treatment of Eftud2ncc−/− embryos with pifithrin-α, a P53-inhibitor, partly improved brain and craniofacial development.
Loydie A Jerome-Majewska
exaly   +3 more sources

EFTUD2 maintains the survival of tumor cells and promotes hepatocellular carcinoma progression via the activation of STAT3 [PDF]

Cell Death and Disease, 2020
AbstractElongation factor Tu GTP binding domain containing 2 (EFTUD2), a spliceosomal GTPase, plays a pivotal role in multiple organ development and innate immune. It has been reported that EFTUD2 is a new host factor with activity against HCV infection.
Nan Yao, Chen Qu, Leibo Xu
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   +5 more sources

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.
Yinghong Yang, Shaofei Jiang, Bo Chu
exaly   +3 more sources