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Journal Abstract Search

494 related items for PubMed ID: 24270420

  • 1. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.
    Ashraf S, Gee HY, Woerner S, Xie LX, Vega-Warner V, Lovric S, Fang H, Song X, Cattran DC, Avila-Casado C, Paterson AD, Nitschké P, Bole-Feysot C, Cochat P, Esteve-Rudd J, Haberberger B, Allen SJ, Zhou W, Airik R, Otto EA, Barua M, Al-Hamed MH, Kari JA, Evans J, Bierzynska A, Saleem MA, Böckenhauer D, Kleta R, El Desoky S, Hacihamdioglu DO, Gok F, Washburn J, Wiggins RC, Choi M, Lifton RP, Levy S, Han Z, Salviati L, Prokisch H, Williams DS, Pollak M, Clarke CF, Pei Y, Antignac C, Hildebrandt F.
    J Clin Invest; 2013 Dec; 123(12):5179-89. PubMed ID: 24270420
    [Abstract] [Full Text] [Related]

  • 2. ADCK4 Deficiency Destabilizes the Coenzyme Q Complex, Which Is Rescued by 2,4-Dihydroxybenzoic Acid Treatment.
    Widmeier E, Yu S, Nag A, Chung YW, Nakayama M, Fernández-Del-Río L, Hugo H, Schapiro D, Buerger F, Choi WI, Helmstädter M, Kim JW, Ryu JH, Lee MG, Clarke CF, Hildebrandt F, Gee HY.
    J Am Soc Nephrol; 2020 Jun; 31(6):1191-1211. PubMed ID: 32381600
    [Abstract] [Full Text] [Related]

  • 3. Follow-up results of patients with ADCK4 mutations and the efficacy of CoQ10 treatment.
    Atmaca M, Gulhan B, Korkmaz E, Inozu M, Soylemezoglu O, Candan C, Bayazıt AK, Elmacı AM, Parmaksiz G, Duzova A, Besbas N, Topaloglu R, Ozaltin F.
    Pediatr Nephrol; 2017 Aug; 32(8):1369-1375. PubMed ID: 28337616
    [Abstract] [Full Text] [Related]

  • 4. Focal segmental glomerulosclerosis and medullary nephrocalcinosis in children with ADCK4 mutations.
    Park E, Kang HG, Choi YH, Lee KB, Moon KC, Jeong HJ, Nagata M, Cheong HI.
    Pediatr Nephrol; 2017 Sep; 32(9):1547-1554. PubMed ID: 28405841
    [Abstract] [Full Text] [Related]

  • 5. ADCK4 "reenergizes" nephrotic syndrome.
    Malaga-Dieguez L, Susztak K.
    J Clin Invest; 2013 Dec; 123(12):4996-9. PubMed ID: 24270414
    [Abstract] [Full Text] [Related]

  • 6. KANK deficiency leads to podocyte dysfunction and nephrotic syndrome.
    Gee HY, Zhang F, Ashraf S, Kohl S, Sadowski CE, Vega-Warner V, Zhou W, Lovric S, Fang H, Nettleton M, Zhu JY, Hoefele J, Weber LT, Podracka L, Boor A, Fehrenbach H, Innis JW, Washburn J, Levy S, Lifton RP, Otto EA, Han Z, Hildebrandt F.
    J Clin Invest; 2015 Jun; 125(6):2375-84. PubMed ID: 25961457
    [Abstract] [Full Text] [Related]

  • 7. Primary coenzyme Q10 nephropathy, a potentially treatable form of steroid-resistant nephrotic syndrome.
    Tan W, Airik R.
    Pediatr Nephrol; 2021 Nov; 36(11):3515-3527. PubMed ID: 33479824
    [Abstract] [Full Text] [Related]

  • 8. COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
    Heeringa SF, Chernin G, Chaki M, Zhou W, Sloan AJ, Ji Z, Xie LX, Salviati L, Hurd TW, Vega-Warner V, Killen PD, Raphael Y, Ashraf S, Ovunc B, Schoeb DS, McLaughlin HM, Airik R, Vlangos CN, Gbadegesin R, Hinkes B, Saisawat P, Trevisson E, Doimo M, Casarin A, Pertegato V, Giorgi G, Prokisch H, Rötig A, Nürnberg G, Becker C, Wang S, Ozaltin F, Topaloglu R, Bakkaloglu A, Bakkaloglu SA, Müller D, Beissert A, Mir S, Berdeli A, Varpizen S, Zenker M, Matejas V, Santos-Ocaña C, Navas P, Kusakabe T, Kispert A, Akman S, Soliman NA, Krick S, Mundel P, Reiser J, Nürnberg P, Clarke CF, Wiggins RC, Faul C, Hildebrandt F.
    J Clin Invest; 2011 May; 121(5):2013-24. PubMed ID: 21540551
    [Abstract] [Full Text] [Related]

  • 9. Long-term follow-up results of patients with ADCK4 mutations who have been diagnosed in the asymptomatic period: effects of early initiation of CoQ10 supplementation.
    Atmaca M, Gülhan B, Atayar E, Bayazıt AK, Candan C, Arıcı M, Topaloğlu R, Özaltın F.
    Turk J Pediatr; 2019 May; 61(5):657-663. PubMed ID: 32104996
    [Abstract] [Full Text] [Related]

  • 10. ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.
    Gee HY, Saisawat P, Ashraf S, Hurd TW, Vega-Warner V, Fang H, Beck BB, Gribouval O, Zhou W, Diaz KA, Natarajan S, Wiggins RC, Lovric S, Chernin G, Schoeb DS, Ovunc B, Frishberg Y, Soliman NA, Fathy HM, Goebel H, Hoefele J, Weber LT, Innis JW, Faul C, Han Z, Washburn J, Antignac C, Levy S, Otto EA, Hildebrandt F.
    J Clin Invest; 2013 Aug; 123(8):3243-53. PubMed ID: 23867502
    [Abstract] [Full Text] [Related]

  • 11. Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency.
    Doimo M, Trevisson E, Airik R, Bergdoll M, Santos-Ocaña C, Hildebrandt F, Navas P, Pierrel F, Salviati L.
    Biochim Biophys Acta; 2014 Jan; 1842(1):1-6. PubMed ID: 24140869
    [Abstract] [Full Text] [Related]

  • 12. A novel ADCK4 mutation in a Chinese family with ADCK4-Associated glomerulopathy.
    Yang J, Yang Y, Hu Z.
    Biochem Biophys Res Commun; 2018 Nov 30; 506(3):444-449. PubMed ID: 30352687
    [Abstract] [Full Text] [Related]

  • 13. Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.
    Wang F, Zhang Y, Mao J, Yu Z, Yi Z, Yu L, Sun J, Wei X, Ding F, Zhang H, Xiao H, Yao Y, Tan W, Lovric S, Ding J, Hildebrandt F.
    Pediatr Nephrol; 2017 Jul 30; 32(7):1181-1192. PubMed ID: 28204945
    [Abstract] [Full Text] [Related]

  • 14. A Personalized Model of COQ2 Nephropathy Rescued by the Wild-Type COQ2 Allele or Dietary Coenzyme Q10 Supplementation.
    Zhu JY, Fu Y, Richman A, Zhao Z, Ray PE, Han Z.
    J Am Soc Nephrol; 2017 Sep 30; 28(9):2607-2617. PubMed ID: 28428331
    [Abstract] [Full Text] [Related]

  • 15. Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome.
    Solanki AK, Widmeier E, Arif E, Sharma S, Daga A, Srivastava P, Kwon SH, Hugo H, Nakayama M, Mann N, Majmundar AJ, Tan W, Gee HY, Sadowski CE, Rinat C, Becker-Cohen R, Bergmann C, Rosen S, Somers M, Shril S, Huber TB, Mane S, Hildebrandt F, Nihalani D.
    Kidney Int; 2019 Oct 30; 96(4):883-889. PubMed ID: 31472902
    [Abstract] [Full Text] [Related]

  • 16. Steroid Resistant Nephrotic Syndrome-Genetic Consideration.
    Tasic V, Gucev Z, Polenakovic M.
    Pril (Makedon Akad Nauk Umet Odd Med Nauki); 2015 Oct 30; 36(3):5-12. PubMed ID: 27442391
    [Abstract] [Full Text] [Related]

  • 17. Early-onset of ADCK4 glomerulopathy with renal failure: a case report.
    Lolin K, Chiodini BD, Hennaut E, Adams B, Dahan K, Ismaili K.
    BMC Med Genet; 2017 Mar 16; 18(1):28. PubMed ID: 28298181
    [Abstract] [Full Text] [Related]

  • 18. TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways.
    Dorval G, Kuzmuk V, Gribouval O, Welsh GI, Bierzynska A, Schmitt A, Miserey-Lenkei S, Koziell A, Haq S, Benmerah A, Mollet G, Boyer O, Saleem MA, Antignac C.
    Am J Hum Genet; 2019 Feb 07; 104(2):348-355. PubMed ID: 30661770
    [Abstract] [Full Text] [Related]

  • 19. COQ2 mutation associated isolated nephropathy in two siblings from a Chinese pedigree.
    Li M, Yue Z, Lin H, Wang H, Chen H, Sun L.
    Ren Fail; 2021 Dec 07; 43(1):97-101. PubMed ID: 33397173
    [Abstract] [Full Text] [Related]

  • 20. Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome.
    Miyake N, Tsukaguchi H, Koshimizu E, Shono A, Matsunaga S, Shiina M, Mimura Y, Imamura S, Hirose T, Okudela K, Nozu K, Akioka Y, Hattori M, Yoshikawa N, Kitamura A, Cheong HI, Kagami S, Yamashita M, Fujita A, Miyatake S, Tsurusaki Y, Nakashima M, Saitsu H, Ohashi K, Imamoto N, Ryo A, Ogata K, Iijima K, Matsumoto N.
    Am J Hum Genet; 2015 Oct 01; 97(4):555-66. PubMed ID: 26411495
    [Abstract] [Full Text] [Related]

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