AI Article Synopsis
- - The study aimed to investigate the orthologs of five genes related to congenital hypothyroidism (NIS, PAX8, DUOX2, FOXE1, NKX2-1) and their roles in thyroid gland development.
- - Conducted at INMOL Cancer Hospital in Lahore, researchers used various bioinformatics tools to analyze gene sequences, build phylogenetic trees, and identify important domains linked to mutations.
- - Results indicated that these genes shared specific consensus motifs and high protein homology, suggesting a connection in their functions and contributions to congenital hypothyroidism.
Article Abstract
Objective: To study the orthologs of the five genes of congenital hypothyroidism NIS, PAX8, DUOX2, FOXE1, NKX2-1 that are involved in the development of the thyroid gland.
Methods: The study was conducted at INMOL Cancer Hospital, Lahore in September 2017 and comprised of finding gene orthologs, phylogenetic tree and domains of NIS, PAX8, DUOX2, FOXE1, NKX2-1 which were studied using different bioinformatics tools, including FASTA, BLAST, ENSEMBL, UniProt, MultiAlin, to find out the important domains involved in the mutations of these genes.
Results: Genes showed consensus sequence / motifs involved in congenital hypothyroidism. Phylogenetic results showed that these genes shared some common motifs. Phylogenetic trees revealed sub-clusters with high protein homology.
Conclusions: Genes involved in congenital hypothyroidism were found to have a consensus sequence motifs.
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| http://dx.doi.org/10.5455/JPMA.299521 | DOI Listing |
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