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Quoted phrase not found in phrase index: "Nephrotic Syndrome - COQ2 Associated"
Page 1
Steroid Resistant Nephrotic Syndrome-Genetic Consideration.
Tasic V, Gucev Z, Polenakovic M. Tasic V, et al. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2015;36(3):5-12. doi: 10.1515/prilozi-2015-0073. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2015. PMID: 27442391 Free article. Review.
Nephrotic syndrome is defined as the association of massive proteinuria, hypoalbuminaemia, edema, and hyperlipidemia. ...This is very important for patients who carry mutations in a gene of coenzyme Q10 biosynthesis (COQ2, COQ6, ADCK4, or PDSS2). In th …
Nephrotic syndrome is defined as the association of massive proteinuria, hypoalbuminaemia, edema, and hyperlipidemia. . …
Whole-exome sequencing reveals a novel homozygous mutation in the COQ8B gene associated with nephrotic syndrome.
Fareed M, Makkar V, Angral R, Afzal M, Singh G. Fareed M, et al. Sci Rep. 2021 Jun 25;11(1):13337. doi: 10.1038/s41598-021-92023-3. Sci Rep. 2021. PMID: 34172776 Free PMC article.
Nephrotic syndrome arising from monogenic mutations differs substantially from acquired ones in their clinical prognosis, progression, and disease management. Several pathogenic mutations in the COQ8B gene are known to cause nephrotic syndrome. …
Nephrotic syndrome arising from monogenic mutations differs substantially from acquired ones in their clinical prognosis …
Idiopathic collapsing glomerulopathy is associated with APOL1 high-risk genotypes or Mendelian variants in most affected individuals in a highly admixed population.
Neves PD, Watanabe A, Watanabe EH, Narcizo AM, Nunes K, Lerario AM, Ferreira FM, Cavalcante LB, Wongboonsin J, Malheiros DM, Jorge LB, Sampson MG, Noronha IL, Onuchic LF. Neves PD, et al. Kidney Int. 2024 Mar;105(3):593-607. doi: 10.1016/j.kint.2023.11.028. Epub 2023 Dec 22. Kidney Int. 2024. PMID: 38143038
All patients with HRG manifested CG at 9-44 years of age, whereas in those with APOL1 low-risk genotype, the disease arose throughout life. HRGs were associated with higher proportion of African genetic ancestry. Novel causative MVs were identified in COL4A5, COQ2 a …
All patients with HRG manifested CG at 9-44 years of age, whereas in those with APOL1 low-risk genotype, the disease arose throughout life. …
Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.
McCarthy HJ, Bierzynska A, Wherlock M, Ognjanovic M, Kerecuk L, Hegde S, Feather S, Gilbert RD, Krischock L, Jones C, Sinha MD, Webb NJ, Christian M, Williams MM, Marks S, Koziell A, Welsh GI, Saleem MA; RADAR the UK SRNS Study Group. McCarthy HJ, et al. Clin J Am Soc Nephrol. 2013 Apr;8(4):637-48. doi: 10.2215/CJN.07200712. Epub 2013 Jan 24. Clin J Am Soc Nephrol. 2013. PMID: 23349334 Free PMC article.
BACKGROUND AND OBJECTIVES: Up to 95% of children presenting with steroid-resistant nephrotic syndrome in early life will have a pathogenic single-gene mutation in 1 of 24 genes currently associated with this disease. ...CONCLUSIONS: This study shows that next …
BACKGROUND AND OBJECTIVES: Up to 95% of children presenting with steroid-resistant nephrotic syndrome in early life will have …
COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement.
Diomedi-Camassei F, Di Giandomenico S, Santorelli FM, Caridi G, Piemonte F, Montini G, Ghiggeri GM, Murer L, Barisoni L, Pastore A, Muda AO, Valente ML, Bertini E, Emma F. Diomedi-Camassei F, et al. J Am Soc Nephrol. 2007 Oct;18(10):2773-80. doi: 10.1681/ASN.2006080833. Epub 2007 Sep 12. J Am Soc Nephrol. 2007. PMID: 17855635
We identified two patients with early-onset glomerular lesions that harbored mutations in the COQ2 gene. The first patient presented with steroid-resistant nephrotic syndrome at the age of 18 months as a result of collapsing glomerulopathy, with no extrarenal …
We identified two patients with early-onset glomerular lesions that harbored mutations in the COQ2 gene. The first patient presented …