Current scenario of the genetic testing for rare neurological disorders exploiting next generation sequencing

C Di Resta, GB Pipitone, P Carrera… - Neural Regeneration …, 2021 - journals.lww.com
Next generation sequencing is currently a cornerstone of genetic testing in routine
diagnostics, allowing for the detection of sequence variants with so far unprecedented large …

Platinum-based chemotherapy for pancreatic cancer: impact of mutations in the homologous recombination repair and Fanconi anemia genes

M Emelyanova, E Pudova, D Khomich… - Therapeutic …, 2022 - journals.sagepub.com
Background: Mutations in homologous recombination (HR) and Fanconi anemia (FA) genes
may predispose to pancreatic cancer (PC) and enable the prediction of sensitivity to …

Computational approaches for investigating disease-causing mutations in membrane proteins: database development, analysis and prediction

A Kulandaisamy, F Ridha, D Frishman… - Current Topics in …, 2022 - benthamdirect.com
Membrane proteins (MPs) play an essential role in a broad range of cellular functions,
serving as transporters, enzymes, receptors, and communicators, and about~ 60% of …

Identification of transcription factor co-regulators that drive prostate cancer progression

M Siddappa, SA Wani, MD Long, DA Leach… - Scientific reports, 2020 - nature.com
In prostate cancer (PCa), and many other hormone-dependent cancers, there is clear
evidence for distorted transcriptional control as disease driver mechanisms. Defining which …