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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. . …
Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy.
Drovandi S, Lipska-Ziętkiewicz BS, Ozaltin F, Emma F, Gulhan B, Boyer O, Trautmann A, Ziętkiewicz S, Xu H, Shen Q, Rao J, Riedhammer KM, Heemann U, Hoefele J, Stenton SL, Tsygin AN, Ng KH, Fomina S, Benetti E, Aurelle M, Prikhodina L, Schijvens AM, Tabatabaeifar M, Jankowski M, Baiko S, Mao J, Feng C, Deng F, Rousset-Rouviere C, Stańczyk M, Bałasz-Chmielewska I, Fila M, Durkan AM, Levart TK, Dursun I, Esfandiar N, Haas D, Bjerre A, Anarat A, Benz MR, Talebi S, Hooman N, Ariceta G; PodoNet Consortium; mitoNET Consortium; CCGKDD Consortium; Schaefer F. Drovandi S, et al. Kidney Int. 2022 Sep;102(3):592-603. doi: 10.1016/j.kint.2022.02.040. Epub 2022 Apr 26. Kidney Int. 2022. PMID: 35483523 Free article.
Primary Coenzyme Q10 deficiency is a rare mitochondriopathy with a wide spectrum of organ involvement, including steroid-resistant nephrotic syndrome mainly associated with disease-causing variants in the genes COQ2, COQ6 or COQ8B. ...The associatio …
Primary Coenzyme Q10 deficiency is a rare mitochondriopathy with a wide spectrum of organ involvement, including steroid-resistant nephro …
Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.
Desbats MA, Lunardi G, Doimo M, Trevisson E, Salviati L. Desbats MA, et al. J Inherit Metab Dis. 2015 Jan;38(1):145-56. doi: 10.1007/s10545-014-9749-9. Epub 2014 Aug 5. J Inherit Metab Dis. 2015. PMID: 25091424 Review.
Its biosynthesis is still incompletely characterized and requires at least 15 genes. Mutations in eight of them (PDSS1, PDSS2, COQ2, COQ4, COQ6, ADCK3, ADCK4, and COQ9) cause primary CoQ(10) deficiency, a heterogeneous group of disorders with variable age of onset (from bi …
Its biosynthesis is still incompletely characterized and requires at least 15 genes. Mutations in eight of them (PDSS1, PDSS2, COQ2, …
Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency.
Drovandi S, Lipska-Ziętkiewicz BS, Ozaltin F, Emma F, Gulhan B, Boyer O, Trautmann A, Xu H, Shen Q, Rao J, Riedhammer KM, Heemann U, Hoefele J, Stenton SL, Tsygin AN, Ng KH, Fomina S, Benetti E, Aurelle M, Prikhodina L, Schreuder MF, Tabatabaeifar M, Jankowski M, Baiko S, Mao J, Feng C, Liu C, Sun S, Deng F, Wang X, Clavé S, Stańczyk M, Bałasz-Chmielewska I, Fila M, Durkan AM, Levart TK, Dursun I, Esfandiar N, Haas D, Bjerre A, Anarat A, Benz MR, Talebi S, Hooman N, Ariceta G; PodoNet Consortium; mitoNET Consortium; CCGKDD Consortium; Schaefer F. Drovandi S, et al. Kidney Int. 2022 Sep;102(3):604-612. doi: 10.1016/j.kint.2022.04.029. Epub 2022 May 25. Kidney Int. 2022. PMID: 35643375 Free article.
Primary Coenzyme Q10 (CoQ(10)) deficiency is an ultra-rare disorder caused by defects in genes involved in CoQ(10) biosynthesis leading to multidrug-resistant nephrotic syndrome as the hallmark kidney manifestation. Promising early results have been reported anecdot …
Primary Coenzyme Q10 (CoQ(10)) deficiency is an ultra-rare disorder caused by defects in genes involved in CoQ(10) biosynthesis leading to m …
Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93.
Bezdíčka M, Štolbová Š, Seeman T, Cinek O, Malina M, Šimánková N, Průhová Š, Zieg J. Bezdíčka M, et al. Pediatr Nephrol. 2018 Aug;33(8):1347-1363. doi: 10.1007/s00467-018-3950-2. Epub 2018 Jun 4. Pediatr Nephrol. 2018. PMID: 29869118
BACKGROUND: Steroid-resistant nephrotic syndrome (SRNS) has a heterogeneous spectrum of monogenic causes that substantially differ among populations. ...Frequent causative genes were NPHS2 (15%), WT1 (9.5%), and surprisingly NUP93 with four (5.4%) unrelated cases. A …
BACKGROUND: Steroid-resistant nephrotic syndrome (SRNS) has a heterogeneous spectrum of monogenic causes that substantially di …
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 …
A Personalized Model of COQ2 Nephropathy Rescued by the Wild-Type COQ2 Allele or Dietary Coenzyme Q(10) Supplementation.
Zhu JY, Fu Y, Richman A, Zhao Z, Ray PE, Han Z. Zhu JY, et al. J Am Soc Nephrol. 2017 Sep;28(9):2607-2617. doi: 10.1681/ASN.2016060626. Epub 2017 Apr 20. J Am Soc Nephrol. 2017. PMID: 28428331 Free PMC article.
Clinical studies have identified patients with nephrotic syndrome caused by mutations in genes involved in the biosynthesis of coenzyme Q(10) (CoQ(10)), a lipid component of the mitochondrial electron transport chain and an important antioxidant. ...Here, we exploit …
Clinical studies have identified patients with nephrotic syndrome caused by mutations in genes involved in the biosynthesis of …
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
Collapsing glomerulopathy (CG) is most often associated with fast progression to kidney failure with an incidence apparently higher in Brazil than in other countries. ...All patients with HRG manifested CG at 9-44 years of age, whereas in those with APOL1 low-risk genotype …
Collapsing glomerulopathy (CG) is most often associated with fast progression to kidney failure with an incidence apparently higher i …