118 related articles for article (PubMed ID: 22046100)
21. SBDS-Deficient Cells Have an Altered Homeostatic Equilibrium due to Translational Inefficiency Which Explains their Reduced Fitness and Provides a Logical Framework for Intervention.
Calamita P; Miluzio A; Russo A; Pesce E; Ricciardi S; Khanim F; Cheroni C; Alfieri R; Mancino M; Gorrini C; Rossetti G; Peluso I; Pagani M; Medina DL; Rommens J; Biffo S
PLoS Genet; 2017 Jan; 13(1):e1006552. PubMed ID: 28056084
[TBL] [Abstract][Full Text] [Related]
22. Magnetic resonance imaging findings of the pancreas in patients with Shwachman-Diamond syndrome and mutations in the SBDS gene.
Toiviainen-Salo S; Raade M; Durie PR; Ip W; Marttinen E; Savilahti E; Mäkitie O
J Pediatr; 2008 Mar; 152(3):434-6. PubMed ID: 18280855
[TBL] [Abstract][Full Text] [Related]
23. Interaction of the GTPase Elongation Factor Like-1 with the Shwachman-Diamond Syndrome Protein and Its Missense Mutations.
Gijsbers A; Montagut DC; Méndez-Godoy A; Altamura D; Saviano M; Siliqi D; Sánchez-Puig N
Int J Mol Sci; 2018 Dec; 19(12):. PubMed ID: 30545121
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. Shwachman-Diamond syndrome mimicking mitochondrial hepatopathy.
Kaufman O; Donnelly C; Cork E; Fiel MI; Chu J; Ganesh J
JPGN Rep; 2024 May; 5(2):213-217. PubMed ID: 38756125
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. 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]
28. Autoimmune neutropenia associated with heterozygous variant of
Rother C; Gebauer N; Schneider J; Bauer A; Holzhausen F; Mayer T; Riecke A; Müller M; Merz H; Steinestel K; Witte HM
Leuk Lymphoma; 2021 Dec; 62(12):3047-3050. PubMed ID: 34151701
[No Abstract] [Full Text] [Related]
29. 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]
30. The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA.
Ganapathi KA; Austin KM; Lee CS; Dias A; Malsch MM; Reed R; Shimamura A
Blood; 2007 Sep; 110(5):1458-65. PubMed ID: 17475909
[TBL] [Abstract][Full Text] [Related]
31. A novel Drosophila model for neurodevelopmental disorders associated with Shwachman-Diamond syndrome.
Takai A; Chiyonobu T; Ueoka I; Tanaka R; Tozawa T; Yoshida H; Morimoto M; Hosoi H; Yamaguchi M
Neurosci Lett; 2020 Nov; 739():135449. PubMed ID: 33115644
[TBL] [Abstract][Full Text] [Related]
32. Decreased accumulation of superoxide dismutase 2 within mitochondria in the yeast model of Shwachman-Diamond syndrome.
Jensen LT; Phyu T; Jain A; Kaewwanna C; Jensen AN
J Cell Biochem; 2019 Aug; 120(8):13867-13880. PubMed ID: 30938873
[TBL] [Abstract][Full Text] [Related]
33. Shwachman-Bodian-Diamond syndrome (SBDS) protein is a direct inhibitor of protein phosphatase 2A (PP2A) activity and overexpressed in acute myeloid leukaemia.
Dun MD; Mannan A; Rigby CJ; Butler S; Toop HD; Beck D; Connerty P; Sillar J; Kahl RGS; Duchatel RJ; Germon Z; Faulkner S; Chi M; Skerrett-Byrne D; Murray HC; Flanagan H; Almazi JG; Hondermarck H; Nixon B; De Iuliis G; Chamberlain J; Alvaro F; de Bock CE; Morris JC; Enjeti AK; Verrills NM
Leukemia; 2020 Dec; 34(12):3393-3397. PubMed ID: 32269318
[No Abstract] [Full Text] [Related]
34. Shwachman-Diamond syndrome and solid tumors: Three new patients from the French Registry for Severe Chronic Neutropenia and literature review.
Bou Mitri F; Beaupain B; Flejou JF; Patient M; Okhremchuck I; Blaise D; Izadifar-Legrand F; Martignoles JA; Delhommeau F; Bellanne-Chantelot C; Emile JF; Donadieu J
Pediatr Blood Cancer; 2021 Jul; 68(7):e29071. PubMed ID: 33871916
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. The Acanthamoeba SBDS, a cytoskeleton-associated gene, is highly expressed during phagocytosis and encystation.
Wang YJ; Lin WC; He MS
J Microbiol Immunol Infect; 2021 Jun; 54(3):482-489. PubMed ID: 31882330
[TBL] [Abstract][Full Text] [Related]
37. Dual regulation of p53 by the ribosome maturation factor SBDS.
Hao Q; Wang J; Chen Y; Wang S; Cao M; Lu H; Zhou X
Cell Death Dis; 2020 Mar; 11(3):197. PubMed ID: 32198344
[TBL] [Abstract][Full Text] [Related]
38. Impaired growth, hematopoietic colony formation, and ribosome maturation in human cells depleted of Shwachman-Diamond syndrome protein SBDS.
Sezgin G; Henson AL; Nihrane A; Singh S; Wattenberg M; Alard P; Ellis SR; Liu JM
Pediatr Blood Cancer; 2013 Feb; 60(2):281-6. PubMed ID: 22997148
[TBL] [Abstract][Full Text] [Related]
39. Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome.
Woloszynek JR; Rothbaum RJ; Rawls AS; Minx PJ; Wilson RK; Mason PJ; Bessler M; Link DC
Blood; 2004 Dec; 104(12):3588-90. PubMed ID: 15284109
[TBL] [Abstract][Full Text] [Related]
40. The chemotaxis defect of Shwachman-Diamond Syndrome leukocytes.
Stepanovic V; Wessels D; Goldman FD; Geiger J; Soll DR
Cell Motil Cytoskeleton; 2004 Mar; 57(3):158-74. PubMed ID: 14743349
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
