Results 1 to 10 of about 1,898 (155)

EFTUD2 Regulates Cortical Morphogenesis via Modulation of Caspase-3 and Aifm1 Splicing Pathways. [PDF]

Adv Sci (Weinh)
EFTUD2, a spliceosomal GTPase linked to MFDM, regulates cortical development through apoptotic control. Conditional Eftud2 knockout in murine neural stem cells induces microcephaly and cortical disorganization, while pathogenic variants drive neuronal loss.
Chen L, Li Y, Yu Y, Cai M, Li H, Huang M, Yang G, Guo J, Wang H, Song Z, Shen W, Jiang H, Wu H.   +12 more
europepmc   +5 more sources

EFTUD2 is a promising diagnostic and prognostic indicator involved in the tumor immune microenvironment and glycolysis of lung adenocarcinoma. [PDF]

Front Oncol
BackgroundElongation Factor Tu GTP Binding Domain Containing 2 (EFTUD2), a conserved spliceosomal GTPase, is involved in craniofacial development and various cancers, but its role in lung adenocarcinoma (LUAD) remains unclear.MethodsEFTUD2 expression in ...
Yin A, Xu Y, Su X, Wang R, Zhang Z, Chen Y, Han L, Fu G, Wang W, Wang J.   +9 more
europepmc   +6 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

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

Identification of a de novo missense variant in the BRI3BP gene in a Holstein calf with congenital cardiac malformation and carpus valgus. [PDF]

Anim Genet
Abstract Congenital malformations in cattle pose a diagnostic challenge with limited treatment options and are often associated with a guarded prognosis. The aim of this study was to characterize the clinicopathological phenotype of a viable calf with complex congenital heart defects and carpus valgus, and to identify a possible genetic cause using a ...
He C, Grau-Roma L, Schmid R, Häfliger IM, Meylan M, Drögemüller C, Jacinto JGP.   +6 more
europepmc   +2 more sources

Proteomics Analysis of the TDP-43 Interactome in Cellular Models of ALS Pathogenesis. [PDF]

J Neurochem
Cytoplasmic aggregation and nuclear depletion of TAR DNA‐binding protein 43 (TDP‐43) is a hallmark pathology of several neurodegenerative diseases including amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration (FTLD) and limbic‐predominant age‐related TDP‐43 encephalopathy (LATE).
Cheng F, Chapman T, Venturato J, Davidson JM, Polido SA, Rosa-Fernandes L, San Gil R, Suddull HJ, Zhang S, Macaslam CY, Szwaja P, Chung R, Walker AK, Rayner SL, Morsch M, Lee A.   +15 more
europepmc   +2 more sources

PROM1 and EFTUD2 Expression in High-Grade Clear Cell Renal Cell Carcinoma as a Molecular Marker for Survival Rate [PDF]

International Journal of Molecular Sciences
Michał Kasperczak, Maciej Wiznerowicz, Andrzej Antczak   +2 more
exaly   +2 more sources

A Thermodynamic-Based Interpretation of Protein Expression Heterogeneity in Different Glioblastoma Multiforme Tumors Identifies Tumor-Specific Unbalanced Processes [PDF]

, 2016
We describe a thermodynamic-motivated, information theoretic analysis of proteomic data collected from a series of 8 glioblastoma multiforme (GBM) tumors. GBMs are considered here as prototypes of heterogeneous cancers.
Heath, James R., Johnson, Hannah, Kravchenko-Balasha, Nataly, Levine, R. D., White, Forest M.   +4 more
core   +3 more sources

A proteomic study of TAR-RNA binding protein (TRBP)-associated factors [PDF]

, 2011
Background The human TAR RNA-binding protein, TRBP, was first identified and cloned based on its high affinity binding to the small hairpin trans-activation responsive (TAR) RNA of HIV-1.
Ya-Hui Chi, Oliver Semmes, Kuan-Teh Jeang   +2 more
core   +2 more sources

Profiling DNA damage response following mitotic perturbations [PDF]

, 2016
Genome integrity relies on precise coordination between DNA replication and chromosome segregation. Whereas replication stress attracted much attention, the consequences of mitotic perturbations for genome integrity are less understood.
Ellenberg, Jan, Gerlich, Daniel W., Guðjónsson, Þorkell, Hériché, Jean-Karim, Karemore, Gopal, Lukas, Claudia, Lukas, Jiri, Neumann, Beate, Pedersen, Ronni S., Pepperkok, Rainer, Rask, Maj-Britt   +10 more
core   +1 more source