BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

98 related articles for article (PubMed ID: 23416296)

  • 41. Strategic validation of variants of uncertain significance in
    Kishita Y; Sugiura A; Onuki T; Ebihara T; Matsuhashi T; Shimura M; Fushimi T; Ichino N; Nagatakidani Y; Nishihata H; Nitta KR; Yatsuka Y; Imai-Okazaki A; Wu Y; Osaka H; Ohtake A; Murayama K; Okazaki Y
    J Med Genet; 2023 Oct; 60(10):1006-1015. PubMed ID: 37055166
    [TBL] [Abstract][Full Text] [Related]  

  • 42. An unusual intragenic promoter of PIWIL2 contributes to aberrant activation of oncogenic PL2L60.
    Liu SS; Liu N; Liu MY; Sun L; Xia WY; Lu HM; Fu YJ; Yang GL; Bo JJ; Liu XX; Feng H; Wu H; Li LF; Gao JX
    Oncotarget; 2017 Jul; 8(28):46104-46120. PubMed ID: 28545024
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency.
    Pata S; Flores-Rojas K; Gil A; López-Laso E; Marti-Sánchez L; Baide-Mairena H; Pérez-Dueñas B; Gil-Campos M
    Orphanet J Rare Dis; 2022 Sep; 17(1):340. PubMed ID: 36064416
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Molecular and in silico investigation of a novel ECHS1 gene mutation in a consanguine family with short-chain enoyl-CoA hydratase deficiency and Mt-DNA depletion: effect on trimer assembly and catalytic activity.
    Maalej M; Sfaihi L; Fersi OA; Khabou B; Ammar M; Felhi R; Kharrat M; Chouchen J; Kammoun T; Tlili A; Fakhfakh F
    Metab Brain Dis; 2024 Apr; 39(4):611-623. PubMed ID: 38363494
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Analysis of the STAT3 interactome using in-situ biotinylation and SILAC.
    Blumert C; Kalkhof S; Brocke-Heidrich K; Kohajda T; von Bergen M; Horn F
    J Proteomics; 2013 Dec; 94():370-86. PubMed ID: 24013128
    [TBL] [Abstract][Full Text] [Related]  

  • 46. ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome.
    Sakai C; Yamaguchi S; Sasaki M; Miyamoto Y; Matsushima Y; Goto Y
    Hum Mutat; 2015 Feb; 36(2):232-9. PubMed ID: 25393721
    [TBL] [Abstract][Full Text] [Related]  

  • 47. New insights into the roles of ncRNA in the STAT3 pathway.
    Zhang J; Zhang A; Wang Y; Liu N; You Y; Kang C; Pu P
    Future Oncol; 2012 Jun; 8(6):723-30. PubMed ID: 22764770
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Stimulating Mitochondrial Biogenesis with Deoxyribonucleosides Increases Functional Capacity in ECHS1-Deficient Cells.
    Burgin HJ; Crameri JJ; Stojanovski D; Sanchez MIGL; Ziemann M; McKenzie M
    Int J Mol Sci; 2022 Oct; 23(20):. PubMed ID: 36293464
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency.
    Masnada S; Parazzini C; Bini P; Barbarini M; Alberti L; Valente M; Chiapparini L; De Silvestri A; Doneda C; Iascone M; Saielli LA; Cereda C; Veggiotti P; Corbetta C; Tonduti D
    Eur J Paediatr Neurol; 2020 Sep; 28():151-158. PubMed ID: 32800686
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Clinical, biochemical and metabolic characterization of patients with short-chain enoyl-CoA hydratase(ECHS1) deficiency: two case reports and the review of the literature.
    Yang H; Yu D
    BMC Pediatr; 2020 Feb; 20(1):50. PubMed ID: 32013919
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Identification of novel direct Stat3 target genes for control of growth and differentiation.
    Snyder M; Huang XY; Zhang JJ
    J Biol Chem; 2008 Feb; 283(7):3791-8. PubMed ID: 18065416
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches.
    Illsinger S; Korenke GC; Boesch S; Nocker M; Karall D; Nuoffer JM; Laugwitz L; Mayr JA; Scholl-Bürgi S; Freisinger P; Kowald T; Kölker S; Prokisch H; Haack TB
    Eur J Med Genet; 2020 Nov; 63(11):104046. PubMed ID: 32858208
    [TBL] [Abstract][Full Text] [Related]  

  • 53. STAT3 operates as a novel transcription factor that regulates NEDD4 in Keloid.
    Wang Y; Yuan B; Qiao L; Yang H; Li X
    Biochem Biophys Res Commun; 2019 Oct; 518(4):638-643. PubMed ID: 31451218
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Clustered localization of STAT3 during the cell cycle detected by super-resolution fluorescence microscopy.
    Gao J; Chen J; Cai M; Xu H; Jiang J; Tong T; Wang H
    Methods Appl Fluoresc; 2017 Apr; 5(2):024004. PubMed ID: 28367831
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Visualization and quantification of dynamic STAT3 homodimerization in living cells using homoFluoppi.
    Okada Y; Watanabe T; Shoji T; Taguchi K; Ogo N; Asai A
    Sci Rep; 2018 Feb; 8(1):2385. PubMed ID: 29402895
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis.
    Nair P; Hamzeh AR; Mohamed M; Malik EM; Al-Ali MT; Bastaki F
    Metab Brain Dis; 2016 Oct; 31(5):1189-92. PubMed ID: 27221955
    [TBL] [Abstract][Full Text] [Related]  

  • 57. ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder.
    Simon MT; Eftekharian SS; Ferdinandusse S; Tang S; Naseri T; Reupena MS; McGarvey ST; Minster RL; Weeks DE; ; Nguyen DD; Lee S; Ellsworth KA; Vaz FM; Dimmock D; Pitt J; Abdenur JE
    Am J Med Genet A; 2021 Jan; 185(1):157-167. PubMed ID: 33112498
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Nicotinamide Mononucleotide Alleviates Cardiomyopathy Phenotypes Caused by Short-Chain Enoyl-Coa Hydratase 1 Deficiency.
    Cai K; Wang F; Lu JQ; Shen AN; Zhao SM; Zang WD; Gui YH; Zhao JY
    JACC Basic Transl Sci; 2022 Apr; 7(4):348-362. PubMed ID: 35540099
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Biological Role and Mechanism of Lipid Metabolism Reprogramming Related Gene ECHS1 in Cancer.
    Hu T; Chen X; Lu S; Zeng H; Guo L; Han Y
    Technol Cancer Res Treat; 2022; 21():15330338221140655. PubMed ID: 36567598
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Valine-restricted diet for patients with ECHS1 deficiency: Divergent clinical outcomes in two Japanese siblings.
    Sato-Shirai I; Ogawa E; Arisaka A; Osaka H; Murayama K; Kuwajima M; Watanabe M; Ichimoto K; Ohtake A; Kumada S
    Brain Dev; 2021 Feb; 43(2):308-313. PubMed ID: 33139125
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 5.