Publications by authors named "Kirollos Yousef"
Background: Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of chronic kidney disease in children and young adults. The most severe form of steroid-resistant nephrotic syndrome is congenital nephrotic syndrome Finnish type (CNSF), caused by biallelic loss-of-function variants in NPHS1, encoding nephrin. Since each of the 68 monogenic causes of steroid-resistant nephrotic syndrome represents a rare cause of the disease, tailoring therapeutic interventions to multiple molecular targets remains challenging, suggesting gene replacement therapy (GRT) as a viable alternative.
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- Steroid-resistant nephrotic syndrome (SRNS) is common in children and leads to chronic kidney disease, with congenital nephrotic syndrome of the Finnish type (CNF) being caused by mutations in the NPHS1 gene that affects kidney filtration.
- A mouse model (129/Sv-Nphs1/J) was used for a detailed assessment comparing homozygous (nephrin-deficient) and heterozygous controls, focusing on survival rates, podocyte density, tubular microcysts, and urinary protein levels.
- The results showed that the nephrin-deficient mice had very short survival times, significant structural kidney changes, and higher protein levels in urine, establishing important parameters for future studies on gene
Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of chronic kidney disease before the age of 25 yr. Nephrin, encoded by localizes to the slit diaphragm of glomerular podocytes and is the predominant structural component of the glomerular filtration barrier. Biallelic variants in can cause congenital nephrotic syndrome of the Finnish type, for which, to date, no causative therapy is available.
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- Spina bifida (SB) is a common birth defect caused by potential monogenic genes, and research using mouse models suggests genetic factors may contribute to SB in humans.
- The study used whole exome sequencing (WES) to analyze 50 unrelated SB cases, identifying 6 likely harmful variants in 6 out of 136 candidate genes related to SB.
- Additionally, 12 more potential candidate genes for SB were found through an unbiased analysis, paving the way for future research on identifying novel genetic causes in larger SB populations.
Purpose: Congenital anomalies of the kidneys and urinary tract (CAKUT) constitute the leading cause of chronic kidney disease in children. In total, 174 monogenic causes of isolated or syndromic CAKUT are known. However, syndromic features may be overlooked when the initial clinical diagnosis of CAKUT is made.
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