Results 21 to 30 of about 1,172 (162)

EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion‐Almeida type [PDF]

Human Mutation, 2020
Pathogenic variants in the core spliceosome U5 small nuclear ribonucleoprotein gene EFTUD2/SNU114 cause the craniofacial disorder mandibulofacial dysostosis Guion-Almeida type (MFDGA). MFDGA-associated variants in EFTUD2 comprise large deletions encompassing EFTUD2, intragenic deletions and single nucleotide truncating or missense variants.
Huw B. Thomas, Katherine A. Wood, Weronika A. Buczek, Christopher T. Gordon, Véronique Pingault, Tania Attié‐Bitach, Kathryn E. Hentges, Vinod C. Varghese, Jeanne Amiel, William G. Newman, Raymond T. O'Keefe   +10 more
openaire   +4 more sources

Additional file 1 of The feedback loop of EFTUD2/c-MYC impedes chemotherapeutic efficacy by enhancing EFTUD2 transcription and stabilizing c-MYC protein in colorectal cancer [PDF]

Additional file 1: Fig. S1. EFTUD2 is significantly upregulated in 5-FU chemotherapy-resistant cells of CRC, related to Fig. 1. A Analysis of the differential expression genes (DEGs) expression in 5-FU resistant CRC cell lines compared with parental cell lines using three GEO datasets (GSE166900, GSE81005, GSE81008).
Zhu, Xiaojian, Li, Changxue, Gao, Yunfei, Zhang, Qingyuan, Wang, Tao, Zhou, Huaixiang, Bu, Fanqin, Chen, Jia, Mao, Xinjun, He, Yulong, Wu, Kaiming, Li, Ningning, Luo, Hongliang   +12 more
openaire   +2 more sources

Spliceosomal protein eftud2 mutation leads to p53-dependent apoptosis in zebrafish neural progenitors [PDF]

Nucleic Acids Research, 2016
Haploinsufficiency of EFTUD2 (Elongation Factor Tu GTP Binding Domain Containing 2) is linked to human mandibulofacial dysostosis, Guion-Almeida type (MFDGA), but the underlying cellular and molecular mechanisms remain to be addressed. We report here the isolation, cloning and functional analysis of the mutated eftud2 (snu114) in a novel neuronal ...
Lei, Lei, Yan, Shou-Yu, Yang, Ran, Chen, Jia-Yu, Li, Yumei, Bu, Ye, Chang, Nannan, Zhou, Qinchao, Zhu, Xiaojun, Li, Chuan-Yun, Xiong, Jing-Wei   +10 more
openaire   +4 more sources

Determination of HER2 amplification status on tumour DNA by digital PCR. [PDF]

PLoS ONE, 2013
Determination of the presence of HER2 amplification by quantitative PCR has been challenging, in part due to chromosomal instability and identification of a robust a reference region.
Isaac Garcia-Murillas, Maryou Lambros, Nicholas C Turner   +2 more
doaj   +2 more sources

Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly [PDF]

BMC Medical Genomics
Background Achondroplasia and mandibulofacial dysostosis with microcephaly (MFDM) are rare monogenic, dominant disorders, caused by gain-of-function fibroblast growth factor receptor 3 (FGFR3) gene variants and loss-of-function elongation factor Tu GTP ...
Ekaterina Lyulcheva-Bennett, Christopher Kershaw, Eleanor Baker, Stuart Gillies, Emma McCarthy, Jenny Higgs, Natalie Canham, Dawn Hennigan, Chris Parks, Daimark Bennett   +9 more
doaj   +2 more sources

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

Journal of Hepatocellular 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
doaj   +2 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.
Caleb M. Dillingham, Harshini Cormaty, Ellen C. Morgan, Andrew I. Tak, Dakarai E. Esgdaille, Paul L. Boutz, Rupa Sridharan   +6 more
doaj   +2 more sources

Prenatal genetic diagnostics and postnatal outcomes of fetal auricular dysplasia [PDF]

Archives of Gynecology and Obstetrics
Purpose Auricular dysplasia is a common fetal anomaly. Despite existing studies in postnatal populations, there remains a paucity of prenatal data on genetic etiology and prognostic analysis for this condition.
Yuanhang Zhu, Xiao Han, Xuezhe Ouyang, Tiantian Chu, Naiqi Li, Jie Yang, Xin Cheng, Ling Liu   +7 more
doaj   +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 ...
Sara Ceccacci, Lorenzo Corsi, Lucio Spinelli, Clarissa Caroli, Matilde Marani, Lisa Anceschi, Matteo Mozzicafreddo, Federica Pellati, Maria Chiara Monti   +8 more
doaj   +2 more sources

Evaluation of RNA Blood Biomarkers in the Parkinson’s Disease Biomarkers Program [PDF]

Frontiers in Aging Neuroscience, 2018
There is a high misdiagnosis rate between Parkinson’s disease (PD) and atypical parkinsonian disorders (APD), such as progressive supranuclear palsy (PSP), the second most common parkinsonian syndrome. In our earlier studies, we identified and replicated
Jose A. Santiago, Virginie Bottero, Judith A. Potashkin   +2 more
doaj   +2 more sources