Results 131 to 140 of about 1,172 (162)

Deletion of sf3b4 causes splicing defects and gene dysregulation that disrupt craniofacial development and survival. [PDF]

Dis Model Mech
Griffin C, Coppenrath K, Khan D, Lin Z, Horb M, Saint-Jeannet JP.   +5 more
europepmc   +1 more source

Identification of coilin interactors reveals coordinated control of Cajal body number and structure. [PDF]

J Cell Biol
Arias Escayola D, Zhang C, Nischwitz E, Schärfen L, Dörner K, Straube K, Kutay U, Butter F, Neugebauer KM.   +8 more
europepmc   +1 more source

CancerHubs Data Explorer: a web application for investigating mutation-enriched protein interaction hubs in human cancers. [PDF]

BioData Min
Ferrari I, Arsuffi E, Biffo S, Manfrini N.   +3 more
europepmc   +1 more source

Advancements in the genomic feature of Newcastle disease virus and the multifaceted roles of non-structural proteins V/W in viral replication and pathogenesis. [PDF]

Poult Sci
Duan Y, Leng G, Liu M, Duan Z.
europepmc   +1 more source

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

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 Jerome-Majewska
exaly   +4 more sources

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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.
Elisa Schmoeckel, Julia Szekeres-Bartho, Sven Mahner   +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 ...
Biao Gong, C Lv, Lv C
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.
Leibo Xu, Chen Qu, Jian Hong
exaly   +3 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.
Fengjiao Liu, Shaofei Jiang
exaly   +3 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