Phenotype of -related Disease.

J Pediatr Neurosci

Pasteur Institute of Tunis, University of Tunis El Manar and Genomics Platform, Tunis, Tunisia.

Published: September 2019

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6798285PMC
http://dx.doi.org/10.4103/jpn.JPN_124_18DOI Listing

Publication Analysis

Top Keywords

phenotype -related
4
-related disease
4
phenotype
1
disease
1

Similar Publications

Hybridisation is a source of genetic diversity, can drive adaptation to new niches and has been found to be a frequent event in lineages harbouring pathogenic fungi. However, little is known about the genomic implications of hybridisation nor its impact on pathogenicity-related traits. A common limitation for addressing these questions is the narrow representativity of sequenced genomes, mostly corresponding to strains isolated from infected patients.

View Article and Find Full Text PDF

Tail Anchored protein insertion mediated by CAML and TRC40 links to neuromuscular function in mice.

PLoS Genet

January 2025

Department of Pediatric and Adolescent Medicine, Mayo Clinic, 200 1st St. SW, Rochester, Minnesota 55905, United States of America.

Motor neuron diseases, such as amyotrophic lateral sclerosis (ALS) and progressive bulbar palsy, involve loss of muscle control resulting from death of motor neurons. Although the exact pathogenesis of these syndromes remains elusive, many are caused by genetically inherited mutations. Thus, it is valuable to identify additional genes that can impact motor neuron survival and function.

View Article and Find Full Text PDF

Primary hepatocellular carcinoma (PHC) is the sixth most common cancer and the third leading cause of cancer death worldwide. Hepatocellular carcinoma (HCC) accounts for 75%-85% of PHC. LARP3 is aberrantly expressed in multiple cancers.

View Article and Find Full Text PDF

Certain coral individuals exhibit enhanced resistance to thermal bleaching, yet the specific microbial assemblages and their roles in these phenotypes remain unclear. We compared the microbial communities of thermal bleaching-resistant (TBR) and thermal bleaching-sensitive (TBS) corals using metabarcoding and metagenomics. Our multidomain approach revealed stable distinct microbial compositions between thermal phenotypes.

View Article and Find Full Text PDF

We applied an MRI technique diffusion tensor imaging along the perivascular space (DTI-ALPS) for assessing glymphatic system (GS) in a genome-wide association study (GWAS) and phenome-wide association study (PheWAS) of 40,486 European individuals. Exploratory analysis revealed 17 genetic loci significantly associating with the regional DTI-ALPS index. We found 58 genes, including and , which prioritized in the DTI-ALPS index subtypes and associated with neurodegenerative diseases.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!