EFTUD2 Antibody

1. we report two individuals of Asian ancestry with Mandibulofacial dysostosis type Guion-Almeida (MFDGA), each harboring a novel, pathogenic splice site variant in EFTUD2 PMID: 29381487
2. We report a clinical and extensive molecular study, including TCOF1, POLR1D, POLR1C, and EFTUD2 genes, in a series of 146 patients with TCS. PMID: 25790162
3. An update on mandibulofacial dysostosis with microcephaly and EFTUD2 mutations has been presented. (Review) PMID: 26507355
4. Novel heterozygous mutations in EFTUD2, detected by exome sequencing, in mandibulofacial dysostosis with Microcephaly syndrome. PMID: 25735261
5. Results show that SNW1 directly associates with EFTUD2 and SNRNP200 and that disruption of SNW1 association with these proteins promotes the apoptosis of breast cancer cells. PMID: 25450007
6. These data demonstrate that EFTUD2 restricts Hepatitis C Virus infection mainly through an RIG-I/MDA5-mediated, JAK-STAT-independent pathway, thereby revealing the participation of EFTUD2 as a novel innate immune regulator. PMID: 25878102
7. A de nove deletion mutation at 17q21.31, encompassing the EFTUD2 gene, is associated with congenital mandibulofacial dysostosis with microcephaly. PMID: 24266672
8. Three different mutations in EFTUD2 gene were found in patients with mandibulofacial dysostosis type Guion-Almeida syndrome PMID: 25387991
9. Study describes loss-of-function mutations in EFTUD2 gene in patients with different clinical manifestations of Mandibulofacial dysostosis, Guion-Almeida type syndrome. PMID: 24470203
10. the phenotype in patients with EFTUD2 mutations is much broader than previously anticipated; in addition to AFD type Guion-Almeida and syndromic esophageal atresia, oto-facial syndrome also belongs to the EFTUD2 mutation spectrum PMID: 23879989
11. Novel mutations in EFTUD2 were discovered in 3 patients. These mutations expand the clinical features in patients with EFTUD2 mutations and demonstrate an overlap with oculo-auriculo-vertebral spectrum. PMID: 23239648
12. EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia. PMID: 23188108
13. Validation studies of eight additional individuals with MFDM demonstrated causative EFTUD2 mutations in all affected individuals tested. PMID: 22305528

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HGNC: 30858

OMIM: 603892

KEGG: hsa:9343

STRING: 9606.ENSP00000392094

UniGene: Hs.151787