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Page 1
Congenital nephrotic syndrome.
AbuMaziad AS, Abusaleh R, Bhati S. AbuMaziad AS, et al. J Perinatol. 2021 Dec;41(12):2704-2712. doi: 10.1038/s41372-021-01279-0. Epub 2022 Jan 4. J Perinatol. 2021. PMID: 34983935 Review.
The etiology of CNS can be related to either genetic or nongenetic etiologies. Pathogenic variants in NPHS1, NPHS2, LAMB2, WT1, and PLCE1 genes have been implicated in this disease. The clinical course is complicated by significant edema, infections, thrombosis, hypothyroi …
The etiology of CNS can be related to either genetic or nongenetic etiologies. Pathogenic variants in NPHS1, NPHS2, LAMB2, WT1, and P …
Adeno-associated virus gene therapy prevents progression of kidney disease in genetic models of nephrotic syndrome.
Ding WY, Kuzmuk V, Hunter S, Lay A, Hayes B, Beesley M, Rollason R, Hurcombe JA, Barrington F, Masson C, Cathery W, May C, Tuffin J, Roberts T, Mollet G, Chu CJ, McIntosh J, Coward RJ, Antignac C, Nathwani A, Welsh GI, Saleem MA. Ding WY, et al. Sci Transl Med. 2023 Aug 9;15(708):eabc8226. doi: 10.1126/scitranslmed.abc8226. Epub 2023 Aug 9. Sci Transl Med. 2023. PMID: 37556557
The most common cause of childhood genetic nephrotic syndrome is mutations in the podocyte gene NPHS2, encoding podocin. We used AAV-based gene therapy to rescue this genetic defect in human and mouse models of disease. In vitro transduction studies identified the A …
The most common cause of childhood genetic nephrotic syndrome is mutations in the podocyte gene NPHS2, encoding podocin. We us …
Ocular manifestations of the genetic causes of focal and segmental glomerulosclerosis.
Zhu V, Huang T, Wang D, Colville D, Mack H, Savige J. Zhu V, et al. Pediatr Nephrol. 2024 Mar;39(3):655-679. doi: 10.1007/s00467-023-06073-y. Epub 2023 Aug 14. Pediatr Nephrol. 2024. PMID: 37578539 Free PMC article. Review.
The commonest genes affected in congenital nephrotic syndrome (NPHS1, NPHS2, WT1, LAMB2, PAX2 but not PLCE1) may have ocular manifestations . Many genes affected in childhood-adolescent onset FSGS (NPHS1, NPHS2, WT1, LAMB2, SMARCAL1, NUP107 but not TRPC6 or PLCE1) h …
The commonest genes affected in congenital nephrotic syndrome (NPHS1, NPHS2, WT1, LAMB2, PAX2 but not PLCE1) may have ocular manifest …
Kidney Organoids Generated Using an Allelic Series of NPHS2 Point Variants Reveal Distinct Intracellular Podocin Mistrafficking.
Dorison A, Ghobrial I, Graham A, Peiris T, Forbes TA, See M, Das M, Saleem MA, Quinlan C, Lawlor KT, Ramialison M, Howden SE, Little MH. Dorison A, et al. J Am Soc Nephrol. 2023 Jan 1;34(1):88-109. doi: 10.1681/ASN.2022060707. Epub 2022 Sep 27. J Am Soc Nephrol. 2023. PMID: 36167728 Free PMC article.
Missense NPHS2 variants were reported to cause mistrafficking of the encoded protein, PODOCIN, but this conclusion was on the basis of overexpression in some nonpodocyte cell lines. ...CONCLUSIONS: Specific variants of endogenous NPHS2 result in distinct subc …
Missense NPHS2 variants were reported to cause mistrafficking of the encoded protein, PODOCIN, but this conclusion was on the …
NPHS Mutations in Pediatric Patients with Congenital and Steroid-Resistant Nephrotic Syndrome.
Lee JX, Tan YJ, Ismail NAS. Lee JX, et al. Int J Mol Sci. 2024 Nov 15;25(22):12275. doi: 10.3390/ijms252212275. Int J Mol Sci. 2024. PMID: 39596340 Free PMC article. Review.
NPHS1 and NPHS2 are kidney gene components that encode for nephrin and podocin, respectively. They play a role in the progression of congenital (CNS) and steroid-resistant (SRNS) nephrotic syndrome. ...Our study showed that the NPHS1 (beta = 1.16, p = 0.35) and N …
NPHS1 and NPHS2 are kidney gene components that encode for nephrin and podocin, respectively. They play a role in the progress …
Genetic analysis and outcomes of Omani children with steroid-resistant nephrotic syndrome.
Al Riyami MS, Al Alawi I, Al Gaithi B, Al Maskari A, Al Kalbani N, Al Hashmi N, Al Balushi A, Al Shahi M, Al Saidi S, Al Bimani M, Al Hatali F, Mabillard H, Sayer JA. Al Riyami MS, et al. Mol Genet Genomic Med. 2023 Sep;11(9):e2201. doi: 10.1002/mgg3.2201. Epub 2023 May 19. Mol Genet Genomic Med. 2023. PMID: 37204080 Free PMC article.
Most of these genetically solved SRNS patients were born to consanguineous parents and variants were in the homozygous state. Pathogenic variants in NPHS2 were the most common cause of SRNS in our study seen in 37 (48.05%) cases. Pathogenic variants in NPHS1 were also seen …
Most of these genetically solved SRNS patients were born to consanguineous parents and variants were in the homozygous state. Pathogenic var …
Analysis of the association of NPHS2 and ACTN4 genes polymorphism with nephrotic syndrome in Egyptian children.
Al-Azzawy MF, Al-Haggar M, ElSaid AM, El-Khawaga OY. Al-Azzawy MF, et al. Mol Biol Rep. 2023 May;50(5):4481-4490. doi: 10.1007/s11033-023-08387-4. Epub 2023 Apr 4. Mol Biol Rep. 2023. PMID: 37014572 Free PMC article.
The goal of this study is to determine the relationship between NPHS2 and ACTN4 in PNS youngsters. METHODS: A study with 100 NS children and 100 healthy matched volunteers was conducted. ...CONCLUSION: The correlation of AG haplotype NPHS2 rs3829795-rs2274625 haplot …
The goal of this study is to determine the relationship between NPHS2 and ACTN4 in PNS youngsters. METHODS: A study with 100 NS child …
Genetic diversity in Kashubs: the regional increase in the frequency of several disease-causing variants.
Jankowski M, Daca-Roszak P, Obracht-Prondzyński C, Płoski R, Lipska-Ziętkiewicz BS, Ziętkiewicz E. Jankowski M, et al. J Appl Genet. 2022 Dec;63(4):691-701. doi: 10.1007/s13353-022-00713-z. Epub 2022 Aug 15. J Appl Genet. 2022. PMID: 35971028 Free PMC article. Review.
These include the following: (1) c.662A > G (p.Asp221Gly) in LDLR, causing heterozygous familial hypercholesterolemia; (2) c.3700_3704del in BRCA1, associated with hereditary breast and ovarian cancer syndrome; (3) c.1528G > C (p.Glu510Gln) in HADHA, seen in long-chain 3-hy …
These include the following: (1) c.662A > G (p.Asp221Gly) in LDLR, causing heterozygous familial hypercholesterolemia; (2) c.3700_3704del …
Detailed Pathophysiology of Minimal Change Disease: Insights into Podocyte Dysfunction, Immune Dysregulation, and Genetic Susceptibility.
Roman M, Nowicki M. Roman M, et al. Int J Mol Sci. 2024 Nov 13;25(22):12174. doi: 10.3390/ijms252212174. Int J Mol Sci. 2024. PMID: 39596249 Free PMC article. Review.
Genetic factors, particularly mutations in the NPHS1 and NPHS2 genes, have been identified as significant contributors to disease susceptibility, influencing the variability in treatment response and overall disease severity. ...
Genetic factors, particularly mutations in the NPHS1 and NPHS2 genes, have been identified as significant contributors to disease sus …
A small molecule chaperone rescues keratin-8 mediated trafficking of misfolded podocin to correct genetic Nephrotic Syndrome.
Kuzmuk V, Pranke I, Rollason R, Butler M, Ding WY, Beesley M, Waters AM, Coward RJ, Sessions R, Tuffin J, Foster RR, Mollet G, Antignac C, Edelman A, Welsh GI, Saleem MA. Kuzmuk V, et al. Kidney Int. 2024 Apr;105(4):744-758. doi: 10.1016/j.kint.2023.11.006. Epub 2023 Nov 22. Kidney Int. 2024. PMID: 37995908 Free article.
Mutations in NPHS2, the podocin-encoding gene, represent the commonest form of inherited nephrotic syndrome (NS), with early, intractable kidney failure. ...Here, we provide evidence that podocin R138Q (but not wild-type podocin) complexes with the int …
Mutations in NPHS2, the podocin-encoding gene, represent the commonest form of inherited nephrotic syndrome (NS), with early, …
41 results