Results 21 to 30 of about 1,898 (155)

“Mandibulofacial dysostosis with microcephaly” caused by EFTUD2 mutations: Expanding the phenotype [PDF]

American Journal of Medical Genetics Part A, 2012
AbstractHeterozygous mutations in the EFTUD2 were identified in 12 individuals with a rare sporadic craniofacial condition termed Mandibulofacial dysostosis with microcephaly (MIM 610536). We present clinical and radiographic features of three additional patients with de novo heterozygous mutations in EFTUD2.
Daniela V, Luquetti, Anne V, Hing, Mark J, Rieder, Deborah A, Nickerson, Emily H, Turner, Joshua, Smith, Sarah, Park, Michael L, Cunningham   +7 more
openaire   +2 more sources

Prognostic biomarkers based on GUF1, EFTUD2 and GSPT1 targets affecting migration of gastric cancer cells. [PDF]

Transl Cancer Res
Eukaryotic elongation factor 1 alpha 2 (eEF1A2) is a protein coding gene which is involved in tumor development and progression in several types of human cancer, but little is known about the function of eEF1A2 proteins in gastric cancer (GC). This study aimed to investigate the effects of GUF1, EFTUD2 and GSPT1 on the migration of GC cells.The ...
Ma H, Suo L, Zhao J, Ma R, Wang Q, Liu J, Qiao J, Wu J, An J, Liu Y, Xing Y, Wang H, Su Z.   +12 more
europepmc   +3 more sources

EFTUD2 on innate immunity

Oncotarget, 2015
Host innate immunity is the first line of defense against invasion of pathogens and determines the outcome of the infection. The host cells recognize pathogens as nonself via pattern-recognition receptors including Toll-like receptors (TLRs) and the RIG-I like receptors (RLRs), follow to induce local antiviral defense by producing interferon and ...
Chuanlong, Zhu, Fei, Xiao, Wenyu, Lin
openaire   +2 more sources

Comparative Genomics RNAi Screen Identifies Eftud2 as a Novel Regulator of Innate Immunity [PDF]

Genetics, 2014
Abstract The extent of the innate immune response is regulated by many positively and negatively acting signaling proteins. This allows for proper activation of innate immunity to fight infection while ensuring that the response is limited to prevent unwanted complications.
Lesly, De Arras, Rebecca, Laws, Sonia M, Leach, Kyle, Pontis, Jonathan H, Freedman, David A, Schwartz, Scott, Alper   +6 more
openaire   +2 more sources

The feedback loop of EFTUD2/c-MYC impedes chemotherapeutic efficacy by enhancing EFTUD2 transcription and stabilizing c-MYC protein in colorectal cancer

, 2023
Abstract Background Chemoresistance remains the primary cause of mortality in colorectal cancer (CRC). However, our understanding of the molecular basis underlying CRC chemoresistance is still limited. Elongation factor Tu GTP binding domain containing 2 (EFTUD2) has been implicated as a potential oncogenic factor in various cancer types, yet ...
Xiaojian Zhu, Changxue Li, Yufei Gao, Huaixiang Zhou, Tao Wang, Fanqin Bu, Jia Chen, Yulong He, Kaiming Wu, Ningning Li, Hongliang Luo   +10 more
openaire   +1 more source

The intrinsically disordered TSSC4 protein acts as a helicase inhibitor, placeholder and multi-interaction coordinator during snRNP assembly and recycling [PDF]

, 2022
Biogenesis of spliceosomal small nuclear ribonucleoproteins (snRNPs) and their recycling after splicing require numerous assembly/recycling factors whose modes of action are often poorly understood.
Aktas, T., Bergfort, A., Freund, C., Hilal, T., Ilik, I., Kuropka, B., Wahl, M., Weber, G.   +7 more
core   +6 more sources

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features. [PDF]

, 2017
PUF60 encodes a nucleic acid-binding protein, a component of multimeric complexes regulating RNA splicing and transcription. In 2013, patients with microdeletions of chromosome 8q24.3 including PUF60 were found to have developmental delay, microcephaly ...
A Dauber, A Ramu, Alex Henderson, Angus Clarke, C Wells, CA Martin, CF Wright, D D D Study, D Lehalle, D Trujillano, David R FitzPatrick, Fiona Stewart, Franziska Roessler, HV Firth, J Thevenon, Jane Hurst, JBGM Verheij, Jonathan Zonana, Julie Vogt, Julien Thevenon, Kaja K Selmer, Karen J Low, Katrina Tatton-Brown, Kory Keller, M Ansari, M Kircher, M Tooley, Magnus D Vigeland, Marjolaine Willems, Mark Greenslade, MD Vigeland, Michael C Schneider, ML Hastings, Morad Ansari, Paul Kuentz, Rami Abou Jamra, S El Chehadeh, Salima El Chehadeh, Sarah F Smithson, SB Patel, Trine Prescott   +40 more
core   +3 more sources

The human RBPome: From genes and proteins to human disease [PDF]

, 2015
RNA binding proteins (RBPs) play a central role in mediating post transcriptional regulation of genes. However less is understood about them and their regulatory mechanisms.
Hashemikhabir, Seyedsasan, Janga, Sarath Chandra, Neelamraju, Yaseswini   +2 more
core   +1 more source

Alternative spliceosomal protein Eftud2 mediated Kif3a exon skipping promotes SHH-subgroup medulloblastoma progression. [PDF]

Cell Death Differ
Abstract Alternative splicing plays a pivotal role in various facets of organogenesis, immune response, and tumorigenesis. Medulloblastoma represents a prevalent childhood brain tumor, with approximately one-third classified as the Sonic Hedgehog (SHH) subgroup.
Li Y, Chen L, Xue S, Song Z, Liu H, Li H, Shen W, Zhang C, Wu H.   +8 more
europepmc   +4 more sources

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).
Ascari, Giulia, Avila-Fernandez, Almudena, Ayuso, Carmen, Benaglio, Paola, Berson, Eliot L., Hamel, Christian, Harper, Shyana, Manes, Gaël, Rivolta, Carlo, San Jose, Patricia Fernandez   +9 more
core   +7 more sources