Novel Splice Site Pathogenic Variant of EFTUD2 Is Associated with Mandibulofacial Dysostosis with Microcephaly and Extracranial Symptoms in Korea [PDF]
Diagnostics, 2020 Elongation factor Tu guanosine-5’-triphosphate (GTP) binding domain containing 2 (EFTUD2) encodes a major component of the spliceosomal GTPase and, if mutated, causes mandibulofacial dysostosis with microcephaly (MFDM; MIM#610536). Despite the increasing
So Young Kim +3 more
doaj +5 more sources
Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2 [PDF]
Molecular Genetics & Genomic MedicineBackground 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).
Ying Chen +9 more
doaj +4 more sources
High RIG-I and EFTUD2 expression predicts poor survival in endometrial cancer [PDF]
Journal of Cancer Research and Clinical Oncology, 2022 Abstract Purpose Endometrial cancer is the most common gynecological malignancy. The helicase RIG-I, a part of the innate immune system, and EFTUD2, a splicing factor which can upregulate RIG-I expression, are shown to influence tumor growth and disease progression in several malignancies.
Beyer, Susanne +17 more
openaire +5 more sources
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia [PDF]
Journal of Medical Genetics, 2012 Background: Oesophageal atresia (OA) and mandibulofacial dysostosis (MFD) are two congenital malformations for which the molecular bases of syndromic forms are being identified at a rapid rate. In particular, the EFTUD2 gene encoding a protein of the spliceosome complex has been found mutated in patients with MFD ...
Gordon, Christopher T. +31 more
openaire +6 more sources
A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report [PDF]
Molecular Case Studies, 2022 Mandibulofacial dysostosis with microcephaly (MFDM) is a rare genetic disorder inherited in an autosomal dominant pattern. Major characteristics include developmental delay, craniofacial malformations such as malar and mandibular hypoplasia, and ear anomalies. Here, we report a 4.5-yr-old female patient with symptoms fitting MFDM.
Muhammad Kohailan +7 more
core +15 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 SciencesClear cell renal cell carcinoma (ccRCC) is a significant global cancer, particularly impacting individuals in Western countries. Despite that, the molecular mechanisms driving renal cell carcinoma progression remain poorly understood, highlighting the ...
Michał Kasperczak
exaly +4 more sources
Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly [PDF]
The American Journal of Human Genetics, 2012 Mandibulofacial dysostosis with microcephaly (MFDM) is a rare sporadic syndrome comprising craniofacial malformations, microcephaly, developmental delay, and a recognizable dysmorphic appearance. Major sequelae, including choanal atresia, sensorineural hearing loss, and cleft palate, each occur in a significant proportion of affected individuals.
Lines, Matthew A. +27 more
openaire +5 more sources
U5 snRNP Core Proteins Are Key Components of the Defense Response against Viral Infection through Their Roles in Programmed Cell Death and Interferon Induction [PDF]
Viruses, 2022 The spliceosome is a massive ribonucleoprotein structure composed of five small nuclear ribonucleoprotein (snRNP) complexes that catalyze the removal of introns from pre-mature RNA during constitutive and alternative splicing. EFTUD2, PRPF8, and SNRNP200
Simon Boudreault +2 more
doaj +2 more sources
Loss of function mutation of Eftud2, the gene responsible for mandibulofacial dysostosis with microcephaly (MFDM), leads to pre-implantation arrest in mouse. [PDF]
PLoS ONE, 2019 Mutations in EFTUD2 are responsible for the autosomal dominant syndrome named MFDM (mandibulofacial dysostosis with microcephaly). However, it is not clear how reduced levels of EFTUD2 cause abnormalities associated with this syndrome.
Marie-Claude Beauchamp +6 more
doaj +2 more sources
EFTUD2 on innate immunity [PDF]
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 +3 more sources