190 related articles for article (PubMed ID: 37876306)
1. 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]
2. 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]
3. Novel Translational Read-through-Inducing Drugs as a Therapeutic Option for Shwachman-Diamond Syndrome.
Bezzerri V; Lentini L; Api M; Busilacchi EM; Cavalieri V; Pomilio A; Diomede F; Pegoraro A; Cesaro S; Poloni A; Pace A; Trubiani O; Lippi G; Pibiri I; Cipolli M
Biomedicines; 2022 Apr; 10(4):. PubMed ID: 35453634
[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. 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]
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. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
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. 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]
15. Ribosomal biogenesis genes play an essential and p53-independent role in zebrafish pancreas development.
Provost E; Wehner KA; Zhong X; Ashar F; Nguyen E; Green R; Parsons MJ; Leach SD
Development; 2012 Sep; 139(17):3232-41. PubMed ID: 22872088
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Deficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes.
Zambetti NA; Bindels EM; Van Strien PM; Valkhof MG; Adisty MN; Hoogenboezem RM; Sanders MA; Rommens JM; Touw IP; Raaijmakers MH
Haematologica; 2015 Oct; 100(10):1285-93. PubMed ID: 26185170
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. [Two cases of Shwachman-Diamond syndrome with genetic confirmation and literature review].
Shen J; Lin K; An Y; Wu YM; Qiao ZW; Yu H; Zhu QR; Zhang T
Zhonghua Er Ke Za Zhi; 2013 Sep; 51(9):679-83. PubMed ID: 24330988
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
