175 related articles for article (PubMed ID: 35887285)
1. A Comparative Molecular Dynamics Study of Selected Point Mutations in the Shwachman-Bodian-Diamond Syndrome Protein SBDS.
Spinetti E; Delre P; Saviano M; Siliqi D; Lattanzi G; Mangiatordi GF
Int J Mol Sci; 2022 Jul; 23(14):. PubMed ID: 35887285
[TBL] [Abstract][Full Text] [Related]
2. Exploring the role of elongation Factor-Like 1 (EFL1) in Shwachman-Diamond syndrome through molecular dynamics.
Delre P; Alberga D; Gijsbers A; Sánchez-Puig N; Nicolotti O; Saviano M; Siliqi D; Mangiatordi GF
J Biomol Struct Dyn; 2020 Oct; 38(17):5219-5229. PubMed ID: 31838967
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Mislocalization or low expression of mutated Shwachman-Bodian-Diamond syndrome protein.
Yamaguchi M; Fujimura K; Kanegane H; Toga-Yamaguchi H; Chopra R; Okamura N
Int J Hematol; 2011 Jul; 94(1):54-62. PubMed ID: 21660439
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. Identification of an asymptomatic Shwachman-Bodian-Diamond syndrome mutation in a patient with acute myeloid leukemia.
Shibata S; Inano S; Watanabe M; Fujiwara K; Ueno H; Nannya Y; Kanda J; Kawasaki N; Okamoto Y; Takiuchi Y; Fukunaga A; Tabata S; Ogawa S; Takaori-Kondo A; Kitano T
Int J Hematol; 2022 Mar; 115(3):428-434. PubMed ID: 34704233
[TBL] [Abstract][Full Text] [Related]
12. Hematologically important mutations: Shwachman-Diamond syndrome.
Costa E; Santos R
Blood Cells Mol Dis; 2008; 40(2):183-4. PubMed ID: 17916435
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. M phase-specific interaction between SBDS and RNF2 at the mitotic spindles regulates mitotic progression.
Sera Y; Imanaka T; Yamaguchi M
Biochem Biophys Res Commun; 2023 Nov; 682():118-123. PubMed ID: 37806249
[TBL] [Abstract][Full Text] [Related]
15. 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]
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. Shwachman-Diamond Syndrome Protein SBDS Maintains Human Telomeres by Regulating Telomerase Recruitment.
Liu Y; Liu F; Cao Y; Xu H; Wu Y; Wu S; Liu D; Zhao Y; Songyang Z; Ma W
Cell Rep; 2018 Feb; 22(7):1849-1860. PubMed ID: 29444436
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Site-specific labeling of SBDS to monitor interactions with the 60S ribosomal subunit.
Biswas A; Peng YF; Kaushik V; Origanti S
Methods; 2023 Mar; 211():68-72. PubMed ID: 36781034
[TBL] [Abstract][Full Text] [Related]
20. Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations.
Kawakami T; Mitsui T; Kanai M; Shirahata E; Sendo D; Kanno M; Noro M; Endoh M; Hama A; Tono C; Ito E; Tsuchiya S; Igarashi Y; Abukawa D; Hayasaka K
Tohoku J Exp Med; 2005 Jul; 206(3):253-9. PubMed ID: 15942154
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
