Mutational analysis of phospholipase C epsilon 1 gene in Egyptian children with steroid-resistant nephrotic syndrome

Background Steroid-resistant nephrotic syndrome (SRNS) is characterized by unresponsiveness of nephrotic range proteinuria to standard steroid therapy, and is the main cause of childhood renal failure. The identification of more than 53 monogenic causes of SRNS has led researchers to focus on the ge...

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Veröffentlicht in:	Egyptian Journal of Medical Human Genetics 2022-12, Vol.23 (1), p.1-18, Article 150
Hauptverfasser:	Abdou, Mohammed, Ramadan, Abeer, El-Agamy, Basma E., EL-Farsy, Mohamed S., Saleh, Eman M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Amino acids Analysis Children Computer applications Congenital diseases Creatinine Edema Ethylenediaminetetraacetic acid Exons Families & family life Gene expression Gene mutations Genes Genetic aspects Genetic research Genetic screening Genomes Heredity Histology Kidney diseases Medical research Medicine Medicine & Public Health Medicine, Experimental Molecular modelling Mutation Nephrology Nephrotic syndrome Nephrotic syndrome (NS) Nonsynonymous single nucleotide polymorphism (nsSNP) Patients Phospholipase C Phospholipase C epsilon 1 (PLCE1) Phospholipases Population genetics Proteins Proteinuria Renal failure Single nucleotide polymorphisms Single-nucleotide polymorphism Statistical analysis Steroid-resistant nephrotic syndrome (SRNS) Steroids Synonymous single nucleotide polymorphism (sSNP)
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