BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

129 related articles for article (PubMed ID: 38412658)

  • 1. Establishing a human-induced pluripotent stem cell line (SMUSHi003-A) from a patient with Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.
    Lei Q; Zhou W; Huang L; Zhang Y; Xu X; Guo X
    Stem Cell Res; 2024 Apr; 76():103357. PubMed ID: 38412658
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.
    Park HJ; Kim HJ; Hong YB; Nam SH; Chung KW; Choi BO
    J Peripher Nerv Syst; 2014 Jun; 19(2):175-9. PubMed ID: 24750328
    [TBL] [Abstract][Full Text] [Related]  

  • 3. INF2 mutations in patients with a broad phenotypic spectrum of Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.
    Park JH; Kwon HM; Nam DE; Kim HJ; Nam SH; Kim SB; Choi BO; Chung KW
    J Peripher Nerv Syst; 2023 Mar; 28(1):108-118. PubMed ID: 36637069
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy.
    Caridi G; Lugani F; Dagnino M; Gigante M; Iolascon A; Falco M; Graziano C; Benetti E; Dugo M; Del Prete D; Granata A; Borracelli D; Moggia E; Quaglia M; Rinaldi R; Gesualdo L; Ghiggeri GM
    Nephrol Dial Transplant; 2014 Sep; 29 Suppl 4():iv80-6. PubMed ID: 25165188
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A cryptic splicing mutation in the INF2 gene causing Charcot-Marie-Tooth disease with minimal glomerular dysfunction.
    Echaniz-Laguna A; Latour P
    J Peripher Nerv Syst; 2019 Mar; 24(1):120-124. PubMed ID: 30680856
    [TBL] [Abstract][Full Text] [Related]  

  • 6. INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.
    Boyer O; Nevo F; Plaisier E; Funalot B; Gribouval O; Benoit G; Huynh Cong E; Arrondel C; Tête MJ; Montjean R; Richard L; Karras A; Pouteil-Noble C; Balafrej L; Bonnardeaux A; Canaud G; Charasse C; Dantal J; Deschenes G; Deteix P; Dubourg O; Petiot P; Pouthier D; Leguern E; Guiochon-Mantel A; Broutin I; Gubler MC; Saunier S; Ronco P; Vallat JM; Alonso MA; Antignac C; Mollet G
    N Engl J Med; 2011 Dec; 365(25):2377-88. PubMed ID: 22187985
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel INF2 mutation p. L77P in a family with glomerulopathy and Charcot-Marie-Tooth neuropathy.
    Rodriguez PQ; Lohkamp B; Celsi G; Mache CJ; Auer-Grumbach M; Wernerson A; Hamajima N; Tryggvason K; Patrakka J
    Pediatr Nephrol; 2013 Feb; 28(2):339-43. PubMed ID: 22961558
    [TBL] [Abstract][Full Text] [Related]  

  • 8. INF2 mutations associated with dominant inherited intermediate Charcot-Marie-Tooth neuropathy with focal segmental glomerulosclerosis in two Chinese patients.
    Jin S; Wang W; Wang R; Lv H; Zhang W; Wang Z; Jiao J; Yuan Y
    Clin Neuropathol; 2015; 34(5):275-81. PubMed ID: 25943269
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons.
    Roos A; Weis J; Korinthenberg R; Fehrenbach H; Häusler M; Züchner S; Mache C; Hubmann H; Auer-Grumbach M; Senderek J
    J Peripher Nerv Syst; 2015 Mar; 20(1):52-9. PubMed ID: 25676889
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutational screening of inverted formin 2 in adult-onset focal segmental glomerulosclerosis or minimal change patients from the Czech Republic.
    Safarikova M; Stekrova J; Honsova E; Horinova V; Tesar V; Reiterova J
    BMC Med Genet; 2018 Aug; 19(1):147. PubMed ID: 30126379
    [TBL] [Abstract][Full Text] [Related]  

  • 11. INF2 mutations in Charcot-Marie-Tooth disease complicated with focal segmental glomerulosclerosis.
    Toyota K; Ogino D; Hayashi M; Taki M; Saito K; Abe A; Hashimoto T; Umetsu K; Tsukaguchi H; Hayasaka K
    J Peripher Nerv Syst; 2013 Mar; 18(1):97-8. PubMed ID: 23521651
    [No Abstract]   [Full Text] [Related]  

  • 12. De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy.
    Mademan I; Deconinck T; Dinopoulos A; Voit T; Schara U; Devriendt K; Meijers B; Lerut E; De Jonghe P; Baets J
    Neurology; 2013 Nov; 81(22):1953-8. PubMed ID: 24174593
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A Deregulated Stress Response Underlies Distinct INF2-Associated Disease Profiles.
    Bayraktar S; Nehrig J; Menis E; Karli K; Janning A; Struk T; Halbritter J; Michgehl U; Krahn MP; Schuberth CE; Pavenstädt H; Wedlich-Söldner R
    J Am Soc Nephrol; 2020 Jun; 31(6):1296-1313. PubMed ID: 32444357
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Analysis of a pedigree with autosomal dominant intermediate Charcot-Marie-Tooth disease type E and nephropathy].
    Fu J; Ma M; Pang M; Yang L; Li G; Song J; Zhang J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Sep; 36(9):918-921. PubMed ID: 31515790
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A complex containing lysine-acetylated actin inhibits the formin INF2.
    A M; Fung TS; Kettenbach AN; Chakrabarti R; Higgs HN
    Nat Cell Biol; 2019 May; 21(5):592-602. PubMed ID: 30962575
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Charcot-Marie-Tooth: are you testing for proteinuria?
    De Rechter S; De Waele L; Levtchenko E; Mekahli D
    Eur J Paediatr Neurol; 2015 Jan; 19(1):1-5. PubMed ID: 25439738
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutations to the formin homology 2 domain of INF2 protein have unexpected effects on actin polymerization and severing.
    Ramabhadran V; Gurel PS; Higgs HN
    J Biol Chem; 2012 Oct; 287(41):34234-45. PubMed ID: 22879592
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Characterization of cytoskeletal and structural effects of INF2 variants causing glomerulopathy and neuropathy.
    Ueda H; Tran QTH; Tran LNT; Higasa K; Ikeda Y; Kondo N; Hashiyada M; Sato C; Sato Y; Ashida A; Nishio S; Iwata Y; Iida H; Matsuoka D; Hidaka Y; Fukui K; Itami S; Kawashita N; Sugimoto K; Nozu K; Hattori M; Tsukaguchi H
    Sci Rep; 2023 Jul; 13(1):12003. PubMed ID: 37491439
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The formin INF2 in disease: progress from 10 years of research.
    Labat-de-Hoz L; Alonso MA
    Cell Mol Life Sci; 2020 Nov; 77(22):4581-4600. PubMed ID: 32451589
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis.
    Barua M; Brown EJ; Charoonratana VT; Genovese G; Sun H; Pollak MR
    Kidney Int; 2013 Feb; 83(2):316-22. PubMed ID: 23014460
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.