Alport Syndrome–Associated Pathogenic COL4A4 Variant in Sisters With Chronic Kidney Disease: Clinical Findings and Integrative Network Analysis
Bakhtawar Farooq, Zahid Habib Qureshi, Muhammad Tahir Khan, Muhammad Faisal, Madeeha Shahzad Lodhi · 2026
Read Alport Syndrome–Associated Pathogenic COL4A4 Variant in Sisters With Chronic Kidney Disease: Clinical Findings and Integrative Network Analysis by Bakhtawar Farooq, Zahid Habib Qureshi, Muhammad Tahir Khan, Muhammad Faisal, Madeeha Shahzad Lodhi (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13138211.txt.
Description
Bakhtawar Farooq and co-authors report two sisters whose kidney failure traces to a gene fault tied to Alport syndrome. The syndrome weakens a filter membrane in the kidney and can also harm hearing and sight. Their 2026 study combines clinic records, gene sequencing, and network analysis of the gene's protein links.
Both sisters had reached the most advanced stage of kidney disease. Gene reading found a short deletion in the named gene, classed as disease-causing by standard rules. Hearing loss in two other family members fits the same pattern. Protein network maps tie the gene closely to both kidney disease and the syndrome. Two cell pathways showed up in both diseases as well, the team report.
Catalog record
| CREATOR | Bakhtawar Farooq, Zahid Habib Qureshi, Muhammad Tahir Khan, Muhammad Faisal, Madeeha Shahzad Lodhi |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 32 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |