BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

243 related articles for article (PubMed ID: 23602541)

  • 1. Pluripotent stem cell models of Shwachman-Diamond syndrome reveal a common mechanism for pancreatic and hematopoietic dysfunction.
    Tulpule A; Kelley JM; Lensch MW; McPherson J; Park IH; Hartung O; Nakamura T; Schlaeger TM; Shimamura A; Daley GQ
    Cell Stem Cell; 2013 Jun; 12(6):727-36. PubMed ID: 23602541
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Proteolytic autodigestion: common tissue pathology in Shwachman-Diamond syndrome?
    Kelley JM; Tulpule A; Daley GQ
    Cell Cycle; 2013; 12(22):3457-8. PubMed ID: 24107623
    [No Abstract]   [Full Text] [Related]  

  • 3. 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]  

  • 4. Ataluren-driven restoration of Shwachman-Bodian-Diamond syndrome protein function in Shwachman-Diamond syndrome bone marrow cells.
    Bezzerri V; Bardelli D; Morini J; Vella A; Cesaro S; Sorio C; Biondi A; Danesino C; Farruggia P; Assael BM; D'amico G; Cipolli M
    Am J Hematol; 2018 Aug; 93(4):527-536. PubMed ID: 29285795
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mesenchymal stromal cells from Shwachman-Diamond syndrome patients fail to recreate a bone marrow niche in vivo and exhibit impaired angiogenesis.
    Bardelli D; Dander E; Bugarin C; Cappuzzello C; Pievani A; Fazio G; Pierani P; Corti P; Farruggia P; Dufour C; Cesaro S; Cipolli M; Biondi A; D'Amico G
    Br J Haematol; 2018 Jul; 182(1):114-124. PubMed ID: 29767474
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Pluripotent stem cell model of Shwachman-Diamond syndrome reveals apoptotic predisposition of hemoangiogenic progenitors.
    Hamabata T; Umeda K; Kouzuki K; Tanaka T; Daifu T; Nodomi S; Saida S; Kato I; Baba S; Hiramatsu H; Osawa M; Niwa A; Saito MK; Kamikubo Y; Adachi S; Hashii Y; Shimada A; Watanabe H; Osafune K; Okita K; Nakahata T; Watanabe K; Takita J; Heike T
    Sci Rep; 2020 Sep; 10(1):14859. PubMed ID: 32908229
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. In Vivo Senescence in the Sbds-Deficient Murine Pancreas: Cell-Type Specific Consequences of Translation Insufficiency.
    Tourlakis ME; Zhang S; Ball HL; Gandhi R; Liu H; Zhong J; Yuan JS; Guidos CJ; Durie PR; Rommens JM
    PLoS Genet; 2015 Jun; 11(6):e1005288. PubMed ID: 26057580
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mitochondrial function is impaired in yeast and human cellular models of Shwachman Diamond syndrome.
    Henson AL; Moore JB; Alard P; Wattenberg MM; Liu JM; Ellis SR
    Biochem Biophys Res Commun; 2013 Jul; 437(1):29-34. PubMed ID: 23792098
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Diffuse alterations in grey and white matter associated with cognitive impairment in Shwachman-Diamond syndrome: evidence from a multimodal approach.
    Perobelli S; Alessandrini F; Zoccatelli G; Nicolis E; Beltramello A; Assael BM; Cipolli M
    Neuroimage Clin; 2015; 7():721-31. PubMed ID: 25844324
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The Greek Registry of Shwachman Diamond-Syndrome: Molecular and clinical data.
    Delaporta P; Sofocleous C; Economou M; Makis A; Kostaridou S; Kattamis A
    Pediatr Blood Cancer; 2017 Nov; 64(11):. PubMed ID: 28509441
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. [Shwachman-Diamond syndrome].
    Vinokurova LV; Dubtsova EA; Yashina NI; Shulyatyev IS; Osipenko YV
    Ter Arkh; 2014; 86(2):72-5. PubMed ID: 24772512
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Young-age-onset pancreatoduodenal carcinoma in Shwachman-Diamond syndrome.
    Nakaya T; Kurata A; Hashimoto H; Nishimata S; Kashiwagi Y; Fujita K; Kawashima H; Kuroda M
    Pathol Int; 2014 Feb; 64(2):75-80. PubMed ID: 24629175
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation.
    Topa A; Tulinius M; Oldfors A; Hedberg-Oldfors C
    Am J Med Genet A; 2016 May; 170A(5):1155-64. PubMed ID: 26866830
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Ubiquitin-proteasome-rich cytoplasmic structures in neutrophils of patients with Shwachman-Diamond syndrome.
    Necchi V; Minelli A; Sommi P; Vitali A; Caruso R; Longoni D; Frau MR; Nasi C; De Gregorio F; Zecca M; Ricci V; Danesino C; Solcia E
    Haematologica; 2012 Jul; 97(7):1057-63. PubMed ID: 22271888
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Shwachman-Bodian-Diamond syndrome (SBDS) protein deficiency impairs translation re-initiation from C/EBPα and C/EBPβ mRNAs.
    In K; Zaini MA; Müller C; Warren AJ; von Lindern M; Calkhoven CF
    Nucleic Acids Res; 2016 May; 44(9):4134-46. PubMed ID: 26762974
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype.
    Scalais E; Connerotte AC; Despontin K; Biver A; Ceuterick-de Groote C; Alders M; Kolivras A; Hachem JP; De Meirleir L
    Am J Med Genet A; 2016 Jul; 170(7):1799-805. PubMed ID: 27127007
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.