BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

189 related articles for article (PubMed ID: 22510774)

  • 41. Molecular pathogenesis in Diamond-Blackfan anemia.
    Ito E; Konno Y; Toki T; Terui K
    Int J Hematol; 2010 Oct; 92(3):413-8. PubMed ID: 20882441
    [TBL] [Abstract][Full Text] [Related]  

  • 42. A Novel Deletion in the RPL5 Gene in a Lebanese Child With Diamond Blackfan Anemia Unresponsive to Steroid Treatment.
    Farah RA; Kamel L; Roy N; Proven M; Wray K; Roberts I; Wlodarski MW
    J Pediatr Hematol Oncol; 2020 May; 42(4):e235-e237. PubMed ID: 30933022
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Diamond-Blackfan anemia, ribosome and erythropoiesis.
    Da Costa L; Moniz H; Simansour M; Tchernia G; Mohandas N; Leblanc T
    Transfus Clin Biol; 2010 Sep; 17(3):112-9. PubMed ID: 20655265
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.
    Gripp KW; Curry C; Olney AH; Sandoval C; Fisher J; Chong JX; ; Pilchman L; Sahraoui R; Stabley DL; Sol-Church K
    Am J Med Genet A; 2014 Sep; 164A(9):2240-9. PubMed ID: 24942156
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Reduced gene expression of clustered ribosomal proteins in Diamond-Blackfan anemia patients without RPS19 gene mutations.
    Koga Y; Ohga S; Nomura A; Takada H; Hara T
    J Pediatr Hematol Oncol; 2006 Jun; 28(6):355-61. PubMed ID: 16794503
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Study of the effects of proteasome inhibitors on ribosomal protein S19 (RPS19) mutants, identified in patients with Diamond-Blackfan anemia.
    Crétien A; Hurtaud C; Moniz H; Proust A; Marie I; Wagner-Ballon O; Choesmel V; Gleizes PE; Leblanc T; Delaunay J; Tchernia G; Mohandas N; Da Costa L
    Haematologica; 2008 Nov; 93(11):1627-34. PubMed ID: 18768533
    [TBL] [Abstract][Full Text] [Related]  

  • 47. [Clinical features and pathogenic gene detection of Diamond-Blackfan anemia].
    He X; Xu ZL
    Zhongguo Dang Dai Er Ke Za Zhi; 2017 Feb; 19(2):171-175. PubMed ID: 28202115
    [TBL] [Abstract][Full Text] [Related]  

  • 48. The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update.
    Boria I; Garelli E; Gazda HT; Aspesi A; Quarello P; Pavesi E; Ferrante D; Meerpohl JJ; Kartal M; Da Costa L; Proust A; Leblanc T; Simansour M; Dahl N; Fröjmark AS; Pospisilova D; Cmejla R; Beggs AH; Sheen MR; Landowski M; Buros CM; Clinton CM; Dobson LJ; Vlachos A; Atsidaftos E; Lipton JM; Ellis SR; Ramenghi U; Dianzani I
    Hum Mutat; 2010 Dec; 31(12):1269-79. PubMed ID: 20960466
    [TBL] [Abstract][Full Text] [Related]  

  • 49. A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia.
    Aspesi A; Betti M; Sculco M; Actis C; Olgasi C; Wlodarski MW; Vlachos A; Lipton JM; Ramenghi U; Santoro C; Follenzi A; Ellis SR; Dianzani I
    Hum Mutat; 2018 Aug; 39(8):1102-1111. PubMed ID: 29766597
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant.
    Carlston CM; Afify ZA; Palumbos JC; Bagley H; Barbagelata C; Wooderchak-Donahue WL; Mao R; Carey JC
    Am J Med Genet A; 2017 Oct; 173(10):2622-2627. PubMed ID: 28742285
    [TBL] [Abstract][Full Text] [Related]  

  • 51. [Diamond-Blackfan anemia confirmed by RPS19 gene mutation analysis: a case study and literature review of Korean patients].
    Chae H; Park J; Kim M; Lim J; Kim Y; Han K; Lee J; Chung NG; Cho B; Kim HK
    Korean J Lab Med; 2010 Jun; 30(3):249-54. PubMed ID: 20603584
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Identification of novel drug targets for diamond-blackfan anemia based on RPS19 gene mutation using protein-protein interaction network.
    Khan A; Ali A; Junaid M; Liu C; Kaushik AC; Cho WCS; Wei DQ
    BMC Syst Biol; 2018 Apr; 12(Suppl 4):39. PubMed ID: 29745857
    [TBL] [Abstract][Full Text] [Related]  

  • 53. The landscape of pediatric Diamond-Blackfan anemia in Switzerland: genotype and phenotype characteristics.
    Vogel N; Schmugge M; Renella R; Waespe N; Hengartner H;
    Eur J Pediatr; 2021 Dec; 180(12):3581-3585. PubMed ID: 34110484
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia.
    Gazda HT; Kho AT; Sanoudou D; Zaucha JM; Kohane IS; Sieff CA; Beggs AH
    Stem Cells; 2006 Sep; 24(9):2034-44. PubMed ID: 16741228
    [TBL] [Abstract][Full Text] [Related]  

  • 55. The Genetic Landscape of Diamond-Blackfan Anemia.
    Ulirsch JC; Verboon JM; Kazerounian S; Guo MH; Yuan D; Ludwig LS; Handsaker RE; Abdulhay NJ; Fiorini C; Genovese G; Lim ET; Cheng A; Cummings BB; Chao KR; Beggs AH; Genetti CA; Sieff CA; Newburger PE; Niewiadomska E; Matysiak M; Vlachos A; Lipton JM; Atsidaftos E; Glader B; Narla A; Gleizes PE; O'Donohue MF; Montel-Lehry N; Amor DJ; McCarroll SA; O'Donnell-Luria AH; Gupta N; Gabriel SB; MacArthur DG; Lander ES; Lek M; Da Costa L; Nathan DG; Korostelev AA; Do R; Sankaran VG; Gazda HT
    Am J Hum Genet; 2018 Dec; 103(6):930-947. PubMed ID: 30503522
    [TBL] [Abstract][Full Text] [Related]  

  • 56. A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemia.
    Devlin EE; Dacosta L; Mohandas N; Elliott G; Bodine DM
    Blood; 2010 Oct; 116(15):2826-35. PubMed ID: 20606162
    [TBL] [Abstract][Full Text] [Related]  

  • 57. De novo TP53 germline activating mutations in two patients with the phenotype mimicking Diamond-Blackfan anemia.
    Fedorova D; Ovsyannikova G; Kurnikova M; Pavlova A; Konyukhova T; Pshonkin A; Smetanina N
    Pediatr Blood Cancer; 2022 Apr; 69(4):e29558. PubMed ID: 35084091
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Cells depleted for RPS19, a protein associated with Diamond Blackfan Anemia, show defects in 18S ribosomal RNA synthesis and small ribosomal subunit production.
    Idol RA; Robledo S; Du HY; Crimmins DL; Wilson DB; Ladenson JH; Bessler M; Mason PJ
    Blood Cells Mol Dis; 2007; 39(1):35-43. PubMed ID: 17376718
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Translational efficiency in patients with Diamond-Blackfan anemia.
    Cmejlova J; Dolezalova L; Pospisilova D; Petrtylova K; Petrak J; Cmejla R
    Haematologica; 2006 Nov; 91(11):1456-64. PubMed ID: 17082006
    [TBL] [Abstract][Full Text] [Related]  

  • 60. The role of human ribosomal proteins in the maturation of rRNA and ribosome production.
    Robledo S; Idol RA; Crimmins DL; Ladenson JH; Mason PJ; Bessler M
    RNA; 2008 Sep; 14(9):1918-29. PubMed ID: 18697920
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.