BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

147 related articles for article (PubMed ID: 19603067)

  • 1. In vitro readthrough of termination codons by gentamycin in the Stüve-Wiedemann Syndrome.
    Bellais S; Le Goff C; Dagoneau N; Munnich A; Cormier-Daire V
    Eur J Hum Genet; 2010 Jan; 18(1):130-2. PubMed ID: 19603067
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity.
    Jung C; Dagoneau N; Baujat G; Le Merrer M; David A; Di Rocco M; Hamel B; Mégarbané A; Superti-Furga A; Unger S; Munnich A; Cormier-Daire V
    Clin Genet; 2010 Mar; 77(3):266-72. PubMed ID: 20447141
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Stüve-Wiedemann syndrome: recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway.
    Van De Maele K; Smulders C; Ecury-Goossen G; Rosina-Angelista I; Redeker E; van Haelst M
    Clin Dysmorphol; 2019 Apr; 28(2):57-62. PubMed ID: 30614825
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.
    Dagoneau N; Scheffer D; Huber C; Al-Gazali LI; Di Rocco M; Godard A; Martinovic J; Raas-Rothschild A; Sigaudy S; Unger S; Nicole S; Fontaine B; Taupin JL; Moreau JF; Superti-Furga A; Le Merrer M; Bonaventure J; Munnich A; Legeai-Mallet L; Cormier-Daire V
    Am J Hum Genet; 2004 Feb; 74(2):298-305. PubMed ID: 14740318
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Aminoglycoside-stimulated readthrough of premature termination codons in selected genes involved in primary ciliary dyskinesia.
    Bukowy-Bieryllo Z; Dabrowski M; Witt M; Zietkiewicz E
    RNA Biol; 2016 Oct; 13(10):1041-1050. PubMed ID: 27618201
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination Codons.
    Matalonga L; Arias Á; Tort F; Ferrer-Cortés X; Garcia-Villoria J; Coll MJ; Gort L; Ribes A
    Neurotherapeutics; 2015 Oct; 12(4):874-86. PubMed ID: 26169295
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Serum starvation enhances nonsense mutation readthrough.
    Wittenstein A; Caspi M; David Y; Shorer Y; Nadar-Ponniah PT; Rosin-Arbesfeld R
    J Mol Med (Berl); 2019 Dec; 97(12):1695-1710. PubMed ID: 31786671
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 2-Guanidino-quinazoline promotes the readthrough of nonsense mutations underlying human genetic diseases.
    Bidou L; Bugaud O; Merer G; Coupet M; Hatin I; Chirkin E; Karri S; Demais S; François P; Cintrat JC; Namy O
    Proc Natl Acad Sci U S A; 2022 Aug; 119(35):e2122004119. PubMed ID: 35994666
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature.
    Siccha SM; Cueto AM; Parrón-Pajares M; González-Morán G; Pacio-Miguez M; Del Pozo Á; Solís M; Rodriguez-Jimenez C; Caino S; Fano V; Heath KE; García-Miñaúr S; Palomares-Bralo M; Santos-Simarro F
    Am J Med Genet A; 2021 Mar; 185(3):856-865. PubMed ID: 33305909
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology.
    Mikelonis D; Jorcyk CL; Tawara K; Oxford JT
    Orphanet J Rare Dis; 2014 Mar; 9():34. PubMed ID: 24618404
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Sequence specificity of aminoglycoside-induced stop condon readthrough: potential implications for treatment of Duchenne muscular dystrophy.
    Howard MT; Shirts BH; Petros LM; Flanigan KM; Gesteland RF; Atkins JF
    Ann Neurol; 2000 Aug; 48(2):164-9. PubMed ID: 10939566
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Small molecule Y-320 stimulates ribosome biogenesis, protein synthesis, and aminoglycoside-induced premature termination codon readthrough.
    Hosseini-Farahabadi S; Baradaran-Heravi A; Zimmerman C; Choi K; Flibotte S; Roberge M
    PLoS Biol; 2021 May; 19(5):e3001221. PubMed ID: 33939688
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Stop codon context influences genome-wide stimulation of termination codon readthrough by aminoglycosides.
    Wangen JR; Green R
    Elife; 2020 Jan; 9():. PubMed ID: 31971508
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Molecular Insights into Determinants of Translational Readthrough and Implications for Nonsense Suppression Approaches.
    Lombardi S; Testa MF; Pinotti M; Branchini A
    Int J Mol Sci; 2020 Dec; 21(24):. PubMed ID: 33322589
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The minor gentamicin complex component, X2, is a potent premature stop codon readthrough molecule with therapeutic potential.
    Friesen WJ; Johnson B; Sierra J; Zhuo J; Vazirani P; Xue X; Tomizawa Y; Baiazitov R; Morrill C; Ren H; Babu S; Moon YC; Branstrom A; Mollin A; Hedrick J; Sheedy J; Elfring G; Weetall M; Colacino JM; Welch EM; Peltz SW
    PLoS One; 2018; 13(10):e0206158. PubMed ID: 30359426
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Functional analysis of the interplay between translation termination, selenocysteine codon context, and selenocysteine insertion sequence-binding protein 2.
    Gupta M; Copeland PR
    J Biol Chem; 2007 Dec; 282(51):36797-807. PubMed ID: 17954931
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome.
    Hatagami Marques J; Lopes Yamamoto G; de Cássia Testai L; da Costa Pereira A; Kim CA; Passos-Bueno MR; Romeo Bertola D
    Mol Syndromol; 2015 Jul; 6(2):87-90. PubMed ID: 26279654
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Neuropathies of Stüve-Wiedemann Syndrome due to mutations in leukemia inhibitory factor receptor (LIFR) gene.
    Oxford AE; Jorcyk CL; Oxford JT
    J Neurol Neuromedicine; 2016; 1(7):37-44. PubMed ID: 28058407
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Opposing Roles of Acetylation and Phosphorylation in LIFR-Dependent Self-Renewal Growth Signaling in Mouse Embryonic Stem Cells.
    Wang XJ; Qiao Y; Xiao MM; Wang L; Chen J; Lv W; Xu L; Li Y; Wang Y; Tan MD; Huang C; Li J; Zhao TC; Hou Z; Jing N; Chin YE
    Cell Rep; 2017 Jan; 18(4):933-946. PubMed ID: 28122243
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Aminoglycosides are efficient reagents to induce readthrough of premature termination codon in mutant B4GALNT1 genes found in families of hereditary spastic paraplegia.
    Yesmin F; Bhuiyan RH; Ohmi Y; Ohkawa Y; Tajima O; Okajima T; Furukawa K; Furukawa K
    J Biochem; 2020 Aug; 168(2):103-112. PubMed ID: 32282910
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.