Deletion of sf3b4 causes splicing defects and gene dysregulation that disrupt craniofacial development and survival. [PDF]
Griffin C +5 more
europepmc +1 more source
Identification of coilin interactors reveals coordinated control of Cajal body number and structure. [PDF]
Arias Escayola D +8 more
europepmc +1 more source
Advancements in the genomic feature of Newcastle disease virus and the multifaceted roles of non-structural proteins V/W in viral replication and pathogenesis. [PDF]
Duan Y, Leng G, Liu M, Duan Z.
europepmc +1 more source
Monitoring changing patterns in HER2 addiction by liquid biopsy in advanced breast cancer patients. [PDF]
Giordani E +19 more
europepmc +1 more source
Facial Bone Defects Associated with Lateral Facial Clefts Tessier Type 6, 7 and 8 in Syndromic Neurocristopathies: A Detailed Micro-CT Analysis on Historical Museum Specimens. [PDF]
Behunova J +10 more
europepmc +1 more source
Targeting SNRNP200-induced splicing dysregulation offers an immunotherapy opportunity for glycolytic triple-negative breast cancer. [PDF]
Yang W +12 more
europepmc +1 more source
Transposable element-gene chimera cartography, origination and role in enhancing transcriptome plasticity. [PDF]
Cheon Y +24 more
europepmc +1 more source
Related searches:
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia
Journal of Medical Genetics, 2012Background: 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 +4 more sources

