Association of a de novo nonsense mutation of the TRIM8 gene with childhood-onset focal segmental glomerulosclerosis
Author:
Publisher
Springer Science and Business Media LLC
Subject
Nephrology,Pediatrics, Perinatology and Child Health
Link
http://link.springer.com/content/pdf/10.1007/s00467-020-04525-3.pdf
Reference8 articles.
1. Gipson DS, Chin H, Presler TP, Jennette C, Ferris ME, Massengill S, Gibson K, Thomas DB (2006) Differential risk of remission and ESRD in childhood FSGS. Pediatr Nephrol 21:344–349
2. De Vriese AS, Sethi S, Nath KA, Glassock RJ, Fervenza FC (2018) Differentiating primary, genetic, and secondary FSGS in adults: a clinicopathologic approach. J Am Soc Nephrol 29:759–774
3. Reymond A, Meroni G, Fantozzi A, Merla G, Cairo S, Luzi L, Riganelli D, Zanaria E, Messali S, Cainarca S, Guffanti A, Minucci S, Pelicci PG, Ballabio A (2001) The tripartite motif family identifies cell compartments. EMBO J 20:2140–2151
4. Sakai Y, Fukai R, Matsushita Y, Miyake N, Saitsu H, Akamine S, Torio M, Sasazuki M, Ishizaki Y, Sanefuji M, Torisu H, Shaw CA, Matsumoto N, Hara T (2016) De novo truncating mutation of TRIM8 causes early-onset epileptic encephalopathy. Ann Hum Genet 80:235–240
5. Assoum M, Lines MA, Elpeleg O, Darmency V, Whiting S, Edvardson S, Devinsky O, Heinzen E, Hernan RR, Antignac C, Deleuze JF, Portes VD, Bertholet-Thomas A, Belot A, Geller E, Lemesle M, Duffourd Y, Thauvin-Robinet C, Thevenon J, Chung W, Lowenstein DH, Faivre L (2018) Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations. Am J Med Genet 176A:2470–2478
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1. TRIM8 Promotes Proliferation, Invasion, and Migration of Cervical Cancer Cells by Ubiquitinating and Degrading SOCS1;Biochemical Genetics;2024-06-25
2. A Rare De Novo Mutation in the TRIM8 Gene in a 17-Year-Old Boy with Steroid-Resistant Nephrotic Syndrome: Case Report;International Journal of Molecular Sciences;2024-04-19
3. De novo truncating variants of TRIM8 and atypical neuro-renal syndrome: a case report and literature review;Italian Journal of Pediatrics;2023-04-15
4. Two Children With Steroid-Resistant Significant Proteinuria Due to Nonsense Mutations of the TRIM8 Gene: A Case Report and Literature Review;Frontiers in Pediatrics;2022-07-12
5. A novel de novo truncating TRIM8 variant associated with childhood-onset focal segmental glomerulosclerosis without epileptic encephalopathy: a case report;BMC Nephrology;2021-12
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