Modifiers of Severity in Autism Spectrum Disorder
Sandra P Smiesze, Will Bush, and Jonathan Haines
Article Type: Research Article | First Published: September 14, 2019
Autism Spectrum Disorder (ASD) comprises a complex of neurodevelopmental disorders primarily characterized by deficits in verbal communication, impaired social interaction and repetitive behaviors. The complex genetic architecture of ASD encompasses profound clinical heterogeneity, which poses huge challenges in understanding its pathophysiology. We conducted a large scale association analysis of the MSSNG whole genome sequencing data to elucidate potential modifiers of ASD severity. Using linea...
In silico Characterization of Rad51a Interactions with Cancer-Related Proteins
Kleber Santiago Freitas e Silva
Article Type: Research Article | First Published: June 28, 2019
RAD51a is a highly conserved protein and its major role is the repair of DNA double strand breaks. Endogenous species are generated during normal cell metabolic activities and can cause damage to DNA, as well as several environmental factors. The interactions RAD51a perform with other proteins help the maintenance of oncogenetic metabolism within cells. RAD51a interacts with PCNA, FANCD2 and ABL1, among many other cancer-related proteins. PCNA acts as a DNA clamp and is related to the replicatio...
SVMOneClAS: Pipeline for Efficient Splicing Events Calling
Sokolov A, Mazur A, Zhigalova N, Prokhortchouk A, Gruzdeva N and Prokhortchouk E
Article Type: Research Article | First Published: June 05, 2019
Splicing is a part of mRNA maturation process when exons of pre-mRNA transcript are joined in multiple ways. In case of alternative splicing, some exons may be excluded from the final mRNA, and the resulting ensemble of mRNAs creates different protein isoforms, allowing multiple proteins to be coded by a single gene. To detect new events of alternative splicing in human blood cells, we used RNA-seq technology. A pipeline based on Python "Scikit-Learn" library was developed for efficient splicing...
The Role of Genetic Mutations in Gene RBM8A in Thrombocytopenia-Absent Radius Syndrome
Article Type: Scientific Advocacy | First Published: March 18, 2019
TAR syndrome is a genetic disorder characterized by a lack of radial bone in the forearm and a lack of blood platelets. Thrombocytopenia prevents normal blood clotting and causes bleeding easily and often bleeds from the nose. The TAR syndrome is caused by the mutation of the RBM8A gene, which is based on the long arm of chromosome 1, which is based on 1q21.1. TAR syndrome is a genetic disorder characterized by a lack of radial bone in the forearm and a lack of blood platelets. Thrombocytopenia ...
The Association of piR-36707 and piR-36741 with Clear Cell Renal Cell Carcinoma
Sercan ERGUN, Diler US ALTAY, Sezgin GUNEŞ, Recep BUYUKALPELLI and Oguz AYDIN
Article Type: Research Article | First Published: February 16, 2019
The expression levels of piR-36707 and piR-36741 were found higher in tumor samples than control ones. Also, piR-36707 expression showed significantly different pattern in terms of gender. Moreover, piR-36707 and piR-36741 expressions displayed statistically significant difference with respect to some TNM staging comparisons. piR-36707 and piR-36741 expressions were significantly differed between Fuhrman nuclear grade 2 and 4. Furthermore, piR-36741 expression change was significantly associated...