Results 11 to 20 of about 1,902 (167)

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

J Exp Clin Cancer Res
Background Chemoresistance presents a significant obstacle in the treatment of colorectal cancer (CRC), yet the molecular basis underlying CRC chemoresistance remains poorly understood, impeding the development of new therapeutic interventions ...
Zhu X, Li C, Gao Y, Zhang Q, Wang T, Zhou H, Bu F, Chen J, Mao X, He Y, Wu K, Li N, Luo H.   +12 more
europepmc   +4 more sources

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

Mol Genet Genomic Med
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).
Chen Y, Yang R, Chen X, Lin N, Li C, Fu Y, He A, Wang Y, Zhang T, Ma J.   +9 more
europepmc   +4 more sources

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.
Byung-Yong Park, Melanie Tachi-Duprat, Chibuike Ihewulezi, Arun Devotta, Jean-Pierre Saint-Jeannet   +4 more
doaj   +3 more sources

KDM3A and KDM3B regulate alternative splicing in mouse pluripotent stem cells. [PDF]

iScience
Summary: Histone modifying enzymes are crucial in preserving cell identity by establishing a conducive chromatin environment for lineage specific transcription factor activity.
Dillingham CM, Cormaty H, Morgan EC, Tak AI, Esgdaille DE, Boutz PL, Sridharan R.   +6 more
europepmc   +2 more sources

A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report [PDF]

BMC Medical Genetics, 2020
Background Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant genetic disease characterized by intellectual and growth retardations, as well as major microcephaly, induced by missense and splice site variants or ...
Arthur Jacob, Jennifer Pasquier, Raphael Carapito, Frédéric Auradé, Anne Molitor, Philippe Froguel, Khalid Fakhro, Najeeb Halabi, Géraldine Viot, Seiamak Bahram, Arash Rafii   +10 more
doaj   +4 more sources

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies: expanding the phenotypes associated with EFTUD2 mutations [PDF]

Orphanet Journal of Rare Diseases, 2013
Background: Mutations in EFTUD2 were proven to cause a very distinct mandibulofacial dysostosis type Guion-Almeida (MFDGA, OMIM #610536). Recently, gross deletions and mutations in EFTUD2 were determined to cause syndromic esophageal atresia (EA), as ...
Albrecht, Beate, Brunner, Han G, Callewaert, Bert, Czeschik, Johanna Christina, Falkenberg Smeland, Marie, Frostad Riise Stensland, Hilde Monica, Hehr, Andreas, Hehr, Ute, Kuechler, Alma, König, Rainer, Lüdecke, Hermann-Josef, Marcelis, Carlo, Martin, Marcel, Mégarbane, André, Neveling, Kornelia, Puiu, Maria, Rahmann, Sven, Reardon, Willie, Schweiger, Bernd, Steehouwer, Marloes, Teller, Christopher, Voigt, Claudia, von Deimling, Florian, Wieczorek, Dagmar   +23 more
core   +11 more sources

Comprehensive Evaluation and Validation Reveal Mitochondrial Solute Carrier SLC25A3 as a Novel Prognostic Biomarker and Therapeutic Target in Hepatocellular Carcinoma. [PDF]

J Hepatocell Carcinoma
Beibei Bie,1 Libing Liu,2 Furong Wang,1 Xianing Meng,1 Mengdi Wu,3 Jin Sun4 1Department of Pharmacy, Medical School, Xi’an Peihua University, Xi’an, 710125, People’s Republic of China; 2Department of Medical Laboratory Science, Medical School, Xi’an ...
Bie B, Liu L, Wang F, Meng X, Wu M, Sun J.   +5 more
europepmc   +2 more sources

A label free chemoproteomic-based platform to disclose cannabidiol molecular mechanism of action on chronic myelogenous leukemia cancer cells. [PDF]

Heliyon
The discovery of the interactome of cannabidiol (CBD), a non-psychoactive cannabinoid from Cannabis sativa L., has been here performed on chronic myelogenous leukemia cancer cells, using an optimized chemo-proteomic stage, which links Drug Affinity ...
Ceccacci S, Corsi L, Spinelli L, Caroli C, Marani M, Anceschi L, Mozzicafreddo M, Pellati F, Monti MC.   +8 more
europepmc   +2 more sources

CancerHubs: a systematic data mining and elaboration approach for identifying novel cancer-related protein interaction hubs. [PDF]

Brief Bioinform
Conventional approaches to predict protein involvement in cancer often rely on defining either aberrant mutations at the single-gene level or correlating/anti-correlating transcript levels with patient survival.
Ferrari I, De Grossi F, Lai G, Oliveto S, Deroma G, Biffo S, Manfrini N.   +6 more
europepmc   +3 more sources

EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway [PDF]

Human Genomics, 2019
Background Mandibulofacial dysostosis with microcephaly (MFDM) is characteristic of multiple skeletal anomalies comprising craniofacial anomalies/dysplasia, microcephaly, dysplastic ears, choanal atresia, and short stature.
Jing Wu, Yi Yang, You He, Qiang Li, Xu Wang, Chengjun Sun, Lishun Wang, Yu An, Feihong Luo   +8 more
doaj   +3 more sources