Publications by authors named "Naser Gilani"
Association of XRCC2 with breast cancer, a multi-omics analysis at genomic, transcriptomic, and epigenomic level.
Cell Mol Biol (Noisy-le-grand)
July 2024
One of the main causes of cancer-related mortality for women worldwide is breast cancer (BC). The XRCC2 gene, essential for DNA repair, has been implicated in cancer susceptibility. This study aims to evaluate the association between XRCC2 and BC risk.
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- TREM2 is a protein that plays a key role in immune responses and neuroinflammation, with mutations linked to neurodegenerative diseases, particularly Nasu-hakola disease (NHD) that leads to bone lesions and early dementia.
- Whole-exome sequencing was performed on a family of three siblings suspected to have NHD, revealing a new genetic deletion in the TREM2 gene that correlates with their condition.
- The study enhances understanding of TREM2's role in various diseases, contributing to better diagnoses and potential therapies for affected individuals.
Purpose: We sought to describe a disorder clinically mimicking cystic fibrosis (CF) and to elucidate its genetic cause.
Methods: Exome/genome sequencing and human phenotype ontology data of nearly 40 000 patients from our Bio/Databank were analysed. RNA sequencing of samples from the nasal mucosa from patients, carriers and controls followed by transcriptome analysis was performed.
Article Synopsis
- - The study explores the previously unknown function of the C2orf69 gene, linking it to a severe syndrome in 20 children characterized by fatal autoinflammation and progressive brain issues.
- - Genetic analysis revealed homozygous loss-of-function variants in C2orf69, suggesting its key role in brain and immune system development through its influence on mitochondrial function and GBE1 levels.
- - Experimentation on zebrafish demonstrated that inactivation of C2orf69 leads to early death due to epilepsy and brain inflammation, further supporting its crucial role in neural and immune health.
Mutations in CLN3 (OMIM: 607042) are associated with juvenile neuronal ceroid lipofuscinoses (JNCL)-a rare neurodegenerative disease with early retinal degeneration and progressive neurologic deterioration. The study aimed to determine the underlying genetic factors justifying the NCL phenotype in a large Iraqi consanguineous family. Four affected individuals with an initial diagnosis of NCL were recruited.
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