BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

125 related articles for article (PubMed ID: 35325818)

  • 21. Fabry disease due to D313Y and novel GLA mutations.
    Koulousios K; Stylianou K; Pateinakis P; Zamanakou M; Loules G; Manou E; Kyriklidou P; Katsinas C; Ouzouni A; Kyriazis J; Speletas M; Germenis AE
    BMJ Open; 2017 Oct; 7(10):e017098. PubMed ID: 28988177
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Generation of induced pluripotent stem cells (iPSCs) IRMBi002-A from an Alzheimer's disease patient carrying a D694N mutation in the APP gene.
    Auboyer L; Monzo C; Wallon D; Rovelet-Lecrux A; Gabelle A; Gazagne I; Cacheux V; Lehmann S; Crozet C
    Stem Cell Res; 2019 May; 37():101438. PubMed ID: 31004935
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Generation of an induced pluripotent stem cell line (EURACi014-A) from a Parkinson's disease patient with an A53T mutation in the SNCA gene by an integration-free reprogramming method.
    Gilmozzi V; Gentile G; Riekschnitz DA; Volpato CB; Di Segni M; Silipigni R; Pramstaller PP; Hicks AA; Pichler I; Zanon A
    Stem Cell Res; 2022 Apr; 60():102713. PubMed ID: 35189566
    [TBL] [Abstract][Full Text] [Related]  

  • 24. CRISPR/Cas9-mediated A4GALT suppression rescues Fabry disease phenotypes in a kidney organoid model.
    Cui S; Shin YJ; Fang X; Lee H; Eum SH; Ko EJ; Lim SW; Shin E; Lee KI; Lee JY; Lee CB; Bae SK; Yang CW; Chung BH
    Transl Res; 2023 Aug; 258():35-46. PubMed ID: 36805562
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Inhibition of Arachidonate 12/15-Lipoxygenase Improves α-Galactosidase Efficacy in iPSC-Derived Cardiomyocytes from Fabry Patients.
    Chien Y; Chou SJ; Chang YL; Leu HB; Yang YP; Tsai PH; Lai YH; Chen KH; Chang WC; Sung SH; Yu WC
    Int J Mol Sci; 2018 May; 19(5):. PubMed ID: 29772700
    [TBL] [Abstract][Full Text] [Related]  

  • 26. High-efficiency generation of induced pluripotent mesenchymal stem cells from human dermal fibroblasts using recombinant proteins.
    Chen F; Zhang G; Yu L; Feng Y; Li X; Zhang Z; Wang Y; Sun D; Pradhan S
    Stem Cell Res Ther; 2016 Jul; 7(1):99. PubMed ID: 27473118
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C>T and EX6 del) in the PARK2 gene.
    Marote A; Pomeshchik Y; Goldwurm S; Collin A; Lamas NJ; Pinto L; Salgado AJ; Roybon L
    Stem Cell Res; 2018 Mar; 27():90-94. PubMed ID: 29353703
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Generation of a human induced pluripotent stem cell line (FDCHi010-A) from a patient with Xia-Gibbs syndrome carrying AHDC1 mutation (c.2062C > T).
    Yin T; Wu B; Peng T; Liao Y; Jiao S; Wang H
    Stem Cell Res; 2023 Jun; 69():103118. PubMed ID: 37216737
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Generation of an induced pluripotent stem cell line from a patient carrying FBN1/c.6734 G > A mutation.
    Pan Z; Wang H; Wang H; Liu Y; Liang P
    Stem Cell Res; 2021 Aug; 55():102459. PubMed ID: 34298435
    [TBL] [Abstract][Full Text] [Related]  

  • 30. First phenotypic description of a female patient with c.610 T > C variant of GLA: a renal-predominant presentation of Fabry disease.
    Greillier S; Daniel L; Caillaud C; Dussol B; Touchard G; Goujon JM; Jourde-Chiche N; Bobot M
    BMC Med Genet; 2020 Jun; 21(1):137. PubMed ID: 32590976
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Generation of an induced pluripotent stem cell (iPSC) line from a patient with GEFS+ carrying a STX1B (p.Lys45delinsArgMetCysIleGlu and p.Leu46Met) mutation.
    Haag C; Uysal B; Marquetand J; Löffler H; Mau-Holzmann UA; Lerche H; Schwarz N
    Stem Cell Res; 2023 Mar; 67():103028. PubMed ID: 36652844
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Induced pluripotent stem cell line (INSAi002-A) from a Fabry Disease patient hemizygote for the rare p.W287X mutation.
    Duarte AJ; Ribeiro D; Santos R; Moreira L; Bragança J; Amaral O
    Stem Cell Res; 2020 May; 45():101794. PubMed ID: 32388441
    [TBL] [Abstract][Full Text] [Related]  

  • 33. A Novel Missense GLA Mutation (p.G35V) Detected in Hemodialysis Screening Leads to Severe Systemic Manifestations of Fabry Disease in Men and Women.
    Veloso VSP; Ataides TL; Canziani MEF; Veloso MP; da Silva NA; Barreto DV; Pereira ERS; de Moura LAR; Barreto FC
    Nephron; 2018; 138(2):147-156. PubMed ID: 28892806
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Generation of human iPSC line from a patient with Tetralogy of Fallot, YAHKMUi001-A, carrying a mutation in TBX1 gene.
    Han S; Zhang YY; Meng MY; Hou ZL; Meng P; Zhao YY; Gao H; Tang J; Liu Z; Yang LL; Jiang LH; Li YX
    Stem Cell Res; 2020 Jan; 42():101687. PubMed ID: 31869684
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
    Lukas J; Scalia S; Eichler S; Pockrandt AM; Dehn N; Cozma C; Giese AK; Rolfs A
    Hum Mutat; 2016 Jan; 37(1):43-51. PubMed ID: 26415523
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Generation of two induced pluripotent stem cell lines UKWNLi006 and UKWNLi007 derived from two patients with an active site GLA mutation leading to a pain and no pain phenotype in Fabry disease.
    Klug K; Breyer M; Klopocki E; Üçeyler N
    Stem Cell Res; 2023 Mar; 67():103025. PubMed ID: 36640471
    [No Abstract]   [Full Text] [Related]  

  • 37. Generation and characterization of a human induced pluripotent stem cell line UOWi005-A from dermal fibroblasts derived from a CCNF
    Bax M; Balez R; Muñoz SS; Do-Ha D; Stevens CH; Berg T; Cabral-da-Silva MC; Engel M; Nicholson G; Yang S; Blair IP; Ooi L
    Stem Cell Res; 2019 Oct; 40():101530. PubMed ID: 31445393
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance.
    Smid BE; Hollak CE; Poorthuis BJ; van den Bergh Weerman MA; Florquin S; Kok WE; Lekanne Deprez RH; Timmermans J; Linthorst GE
    Clin Genet; 2015 Aug; 88(2):161-6. PubMed ID: 25040344
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Generation of two induced pluripotent stem cell lines from skin fibroblasts of sisters carrying a c.1094C>A variation in the SCN10A gene potentially associated with small fiber neuropathy.
    Klein T; Klug K; Henkel L; Kwok CK; Edenhofer F; Klopocki E; Kurth I; Üçeyler N
    Stem Cell Res; 2019 Mar; 35():101396. PubMed ID: 30731422
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Generation of an induced pluripotent stem cell line (CSC-32) from a patient with Parkinson's disease carrying a heterozygous variation p.A53T in the SNCA gene.
    Azevedo C; Chumarina M; Serafimova E; Goldwurm S; Collin A; Roybon L; Savchenko E; Pomeshchik Y
    Stem Cell Res; 2020 Mar; 43():101694. PubMed ID: 31954327
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.