224 related articles for article (PubMed ID: 22510201)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
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. 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. Deletion of Mitochondrial Porin Alleviates Stress Sensitivity in the Yeast Model of Shwachman-Diamond Syndrome.
Kanprasoet W; Jensen LT; Sriprach S; Thitiananpakorn K; Rattanapornsompong K; Jensen AN
J Genet Genomics; 2015 Dec; 42(12):671-84. PubMed ID: 26743985
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. 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]
17. Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome.
Ravera S; Dufour C; Cesaro S; Bottega R; Faleschini M; Cuccarolo P; Corsolini F; Usai C; Columbaro M; Cipolli M; Savoia A; Degan P; Cappelli E
Sci Rep; 2016 May; 6():25441. PubMed ID: 27146429
[TBL] [Abstract][Full Text] [Related]
18. Of blood, bones, and ribosomes: is Swachman-Diamond syndrome a ribosomopathy?
Johnson AW; Ellis SR
Genes Dev; 2011 May; 25(9):898-900. PubMed ID: 21536731
[TBL] [Abstract][Full Text] [Related]
19. Sbds is required for Rac2-mediated monocyte migration and signaling downstream of RANK during osteoclastogenesis.
Leung R; Cuddy K; Wang Y; Rommens J; Glogauer M
Blood; 2011 Feb; 117(6):2044-53. PubMed ID: 21084708
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
