BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

238 related articles for article (PubMed ID: 37226705)

  • 1. Shwachman-Diamond syndromes: clinical, genetic, and biochemical insights from the rare variants.
    Kawashima N; Oyarbide U; Cipolli M; Bezzerri V; Corey SJ
    Haematologica; 2023 Oct; 108(10):2594-2605. PubMed ID: 37226705
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Mutations in the
    Bellanné-Chantelot C; Schmaltz-Panneau B; Marty C; Fenneteau O; Callebaut I; Clauin S; Docet A; Damaj GL; Leblanc T; Pellier I; Stoven C; Souquere S; Antony-Debré I; Beaupain B; Aladjidi N; Barlogis V; Bauduer F; Bensaid P; Boespflug-Tanguy O; Berger C; Bertrand Y; Carausu L; Fieschi C; Galambrun C; Schmidt A; Journel H; Mazingue F; Nelken B; Quah TC; Oksenhendler E; Ouachée M; Pasquet M; Saada V; Suarez F; Pierron G; Vainchenker W; Plo I; Donadieu J
    Blood; 2018 Sep; 132(12):1318-1331. PubMed ID: 29914977
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 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. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. Guanine nucleotide exchange in the ribosomal GTPase EFL1 is modulated by the protein mutated in the Shwachman-Diamond syndrome.
    Gijsbers A; García-Márquez A; Luviano A; Sánchez-Puig N
    Biochem Biophys Res Commun; 2013 Aug; 437(3):349-54. PubMed ID: 23831625
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Defective Guanine Nucleotide Exchange in the Elongation Factor-like 1 (EFL1) GTPase by Mutations in the Shwachman-Diamond Syndrome Protein.
    García-Márquez A; Gijsbers A; de la Mora E; Sánchez-Puig N
    J Biol Chem; 2015 Jul; 290(29):17669-17678. PubMed ID: 25991726
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. Further evidence for the involvement of
    Tan QK; Cope H; Spillmann RC; Stong N; Jiang YH; McDonald MT; Rothman JA; Butler MW; Frush DP; Lachman RS; Lee B; Bacino CA; Bonner MJ; McCall CM; Pendse AA; Walley N; ; Shashi V; Pena LDM
    Cold Spring Harb Mol Case Stud; 2018 Oct; 4(5):. PubMed ID: 29970384
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Endocrine evaluation of children with and without Shwachman-Bodian-Diamond syndrome gene mutations and Shwachman-Diamond syndrome.
    Myers KC; Rose SR; Rutter MM; Mehta PA; Khoury JC; Cole T; Harris RE
    J Pediatr; 2013 Jun; 162(6):1235-40, 1240.e1. PubMed ID: 23305959
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Absence of acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 in a series of 10 patients with Shwachman-Diamond syndrome.
    Nacci L; Danesino C; Sainati L; Longoni D; Poli F; Cipolli M; Perobelli S; Nicolis E; Cannioto Z; Morini J; Valli R; Pasquali F; Minelli A
    Br J Haematol; 2014 May; 165(4):573-5. PubMed ID: 24484588
    [No Abstract]   [Full Text] [Related]  

  • 18. Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome.
    Warren AJ
    Adv Biol Regul; 2018 Jan; 67():109-127. PubMed ID: 28942353
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 12.