BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

261 related articles for article (PubMed ID: 36542827)

  • 1. Predisposition to myeloid malignancies in Shwachman-Diamond syndrome: biological insights and clinical advances.
    Reilly CR; Shimamura A
    Blood; 2023 Mar; 141(13):1513-1523. PubMed ID: 36542827
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Diagnosis, Treatment, and Molecular Pathology of Shwachman-Diamond Syndrome.
    Nelson AS; Myers KC
    Hematol Oncol Clin North Am; 2018 Aug; 32(4):687-700. PubMed ID: 30047420
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Shwachman-Diamond Syndrome: Molecular Mechanisms and Current Perspectives.
    Bezzerri V; Cipolli M
    Mol Diagn Ther; 2019 Apr; 23(2):281-290. PubMed ID: 30413969
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Impaired ribosomal subunit association in Shwachman-Diamond syndrome.
    Burwick N; Coats SA; Nakamura T; Shimamura A
    Blood; 2012 Dec; 120(26):5143-52. PubMed ID: 23115272
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Defective ribosome assembly in Shwachman-Diamond syndrome.
    Wong CC; Traynor D; Basse N; Kay RR; Warren AJ
    Blood; 2011 Oct; 118(16):4305-12. PubMed ID: 21803848
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update.
    Myers KC; Davies SM; Shimamura A
    Hematol Oncol Clin North Am; 2013 Feb; 27(1):117-28, ix. PubMed ID: 23351992
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Ataluren improves myelopoiesis and neutrophil chemotaxis by restoring ribosome biogenesis and reducing p53 levels in Shwachman-Diamond syndrome cells.
    Cipolli M; Boni C; Penzo M; Villa I; Bolamperti S; Baldisseri E; Frattini A; Porta G; Api M; Selicato N; Roccia P; Pollutri D; Marinelli Busilacchi E; Poloni A; Caporelli N; D'Amico G; Pegoraro A; Cesaro S; Oyarbide U; Vella A; Lippi G; Corey SJ; Valli R; Polini A; Bezzerri V
    Br J Haematol; 2024 Jan; 204(1):292-305. PubMed ID: 37876306
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in
    Stepensky P; Chacón-Flores M; Kim KH; Abuzaitoun O; Bautista-Santos A; Simanovsky N; Siliqi D; Altamura D; Méndez-Godoy A; Gijsbers A; Naser Eddin A; Dor T; Charrow J; Sánchez-Puig N; Elpeleg O
    J Med Genet; 2017 Aug; 54(8):558-566. PubMed ID: 28331068
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Deficiency of Sbds in the mouse pancreas leads to features of Shwachman-Diamond syndrome, with loss of zymogen granules.
    Tourlakis ME; Zhong J; Gandhi R; Zhang S; Chen L; Durie PR; Rommens JM
    Gastroenterology; 2012 Aug; 143(2):481-92. PubMed ID: 22510201
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome.
    Finch AJ; Hilcenko C; Basse N; Drynan LF; Goyenechea B; Menne TF; González Fernández A; Simpson P; D'Santos CS; Arends MJ; Donadieu J; Bellanné-Chantelot C; Costanzo M; Boone C; McKenzie AN; Freund SM; Warren AJ
    Genes Dev; 2011 May; 25(9):917-29. PubMed ID: 21536732
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical spectrum and molecular pathophysiology of Shwachman-Diamond syndrome.
    Huang JN; Shimamura A
    Curr Opin Hematol; 2011 Jan; 18(1):30-5. PubMed ID: 21124213
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.
    Dror Y; Donadieu J; Koglmeier J; Dodge J; Toiviainen-Salo S; Makitie O; Kerr E; Zeidler C; Shimamura A; Shah N; Cipolli M; Kuijpers T; Durie P; Rommens J; Siderius L; Liu JM
    Ann N Y Acad Sci; 2011 Dec; 1242():40-55. PubMed ID: 22191555
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical features and outcomes of patients with Shwachman-Diamond syndrome and myelodysplastic syndrome or acute myeloid leukaemia: a multicentre, retrospective, cohort study.
    Myers KC; Furutani E; Weller E; Siegele B; Galvin A; Arsenault V; Alter BP; Boulad F; Bueso-Ramos C; Burroughs L; Castillo P; Connelly J; Davies SM; DiNardo CD; Hanif I; Ho RH; Karras N; Manalang M; McReynolds LJ; Nakano TA; Nalepa G; Norkin M; Oberley MJ; Orgel E; Pastore YD; Rosenthal J; Walkovich K; Larson J; Malsch M; Elghetany MT; Fleming MD; Shimamura A
    Lancet Haematol; 2020 Mar; 7(3):e238-e246. PubMed ID: 31879230
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome.
    Kennedy AL; Myers KC; Bowman J; Gibson CJ; Camarda ND; Furutani E; Muscato GM; Klein RH; Ballotti K; Liu S; Harris CE; Galvin A; Malsch M; Dale D; Gansner JM; Nakano TA; Bertuch A; Vlachos A; Lipton JM; Castillo P; Connelly J; Churpek J; Edwards JR; Hijiya N; Ho RH; Hofmann I; Huang JN; Keel S; Lamble A; Lau BW; Norkin M; Stieglitz E; Stock W; Walkovich K; Boettcher S; Brendel C; Fleming MD; Davies SM; Weller EA; Bahl C; Carter SL; Shimamura A; Lindsley RC
    Nat Commun; 2021 Feb; 12(1):1334. PubMed ID: 33637765
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Pediatric Shwachman-diamond syndrome: report on 5 cases and literature review].
    Wen XH; Xiao JW; Yu J; Xian Y; Guan XM; Guo YX
    Zhongguo Dang Dai Er Ke Za Zhi; 2013 Nov; 15(11):970-4. PubMed ID: 24229590
    [No Abstract]   [Full Text] [Related]  

  • 16. Breast cancer in a case of Shwachman Diamond syndrome.
    Singh SA; Vlachos A; Morgenstern NJ; Ouansafi I; Ip W; Rommens JM; Durie P; Shimamura A; Lipton JM
    Pediatr Blood Cancer; 2012 Nov; 59(5):945-6. PubMed ID: 22213587
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.
    Carapito R; Konantz M; Paillard C; Miao Z; Pichot A; Leduc MS; Yang Y; Bergstrom KL; Mahoney DH; Shardy DL; Alsaleh G; Naegely L; Kolmer A; Paul N; Hanauer A; Rolli V; Müller JS; Alghisi E; Sauteur L; Macquin C; Morlon A; Sancho CS; Amati-Bonneau P; Procaccio V; Mosca-Boidron AL; Marle N; Osmani N; Lefebvre O; Goetz JG; Unal S; Akarsu NA; Radosavljevic M; Chenard MP; Rialland F; Grain A; Béné MC; Eveillard M; Vincent M; Guy J; Faivre L; Thauvin-Robinet C; Thevenon J; Myers K; Fleming MD; Shimamura A; Bottollier-Lemallaz E; Westhof E; Lengerke C; Isidor B; Bahram S
    J Clin Invest; 2017 Nov; 127(11):4090-4103. PubMed ID: 28972538
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical features, epidemiology, and treatment of Shwachman-Diamond syndrome: a systematic review.
    Han X; Lu S; Gu C; Bian Z; Xie X; Qiao X
    BMC Pediatr; 2023 Oct; 23(1):503. PubMed ID: 37803383
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.
    Carvalho CM; Zuccherato LW; Williams CL; Neill NJ; Murdock DR; Bainbridge M; Jhangiani SN; Muzny DM; Gibbs RA; Ip W; Guillerman RP; Lupski JR; Bertuch AA
    BMC Med Genet; 2014 Jun; 15():64. PubMed ID: 24898207
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Spectrum of diabetes mellitus in patients with Shwachman-Diamond syndrome: case report and review of the literature.
    Navasardyan LV; Furlan I; Brandt S; Schulz A; Wabitsch M; Denzer C
    Ital J Pediatr; 2023 Aug; 49(1):98. PubMed ID: 37580732
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.