376 related articles for article (PubMed ID: 29914977)
21. 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]
22. 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]
23. 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]
24. 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]
25. Cellular Traffic Jam and Disease Due to Mutations in SRP54.
Weichenrieder O
Structure; 2021 Jan; 29(1):3-5. PubMed ID: 33417891
[TBL] [Abstract][Full Text] [Related]
26. Translational medicine: ribosomopathies.
Narla A; Ebert BL
Blood; 2011 Oct; 118(16):4300-1. PubMed ID: 22021450
[No Abstract] [Full Text] [Related]
27. SRP54 and a need for a new neutropenia nosology.
Oyarbide U; Corey SJ
Blood; 2018 Sep; 132(12):1220-1222. PubMed ID: 30237254
[TBL] [Abstract][Full Text] [Related]
28. Pregnancy in Shwachman-Diamond syndrome: a novel genetic mutation with minimal consequence.
Horne GA; Chevassut T
BMJ Case Rep; 2012 Nov; 2012():. PubMed ID: 23125299
[TBL] [Abstract][Full Text] [Related]
29. Biallelic mutations in
Dhanraj S; Matveev A; Li H; Lauhasurayotin S; Jardine L; Cada M; Zlateska B; Tailor CS; Zhou J; Mendoza-Londono R; Vincent A; Durie PR; Scherer SW; Rommens JM; Heon E; Dror Y
Blood; 2017 Mar; 129(11):1557-1562. PubMed ID: 28062395
[No Abstract] [Full Text] [Related]
30. 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]
31. Shwachman-Diamond syndrome: diarrhea, no longer required?
Andolina JR; Morrison CB; Thompson AA; Chaudhury S; Mack AK; Proytcheva M; Corey SJ
J Pediatr Hematol Oncol; 2013 Aug; 35(6):486-9. PubMed ID: 22935661
[TBL] [Abstract][Full Text] [Related]
32. Mesenchymal stromal cells from Shwachman-Diamond syndrome patients fail to recreate a bone marrow niche in vivo and exhibit impaired angiogenesis.
Bardelli D; Dander E; Bugarin C; Cappuzzello C; Pievani A; Fazio G; Pierani P; Corti P; Farruggia P; Dufour C; Cesaro S; Cipolli M; Biondi A; D'Amico G
Br J Haematol; 2018 Jul; 182(1):114-124. PubMed ID: 29767474
[TBL] [Abstract][Full Text] [Related]
33. Recent insights into inherited bone marrow failure syndromes.
Parikh S; Bessler M
Curr Opin Pediatr; 2012 Feb; 24(1):23-32. PubMed ID: 22227778
[TBL] [Abstract][Full Text] [Related]
34. Absence of SBDS mutations in sporadic paediatric acute myeloid leukaemia.
Aalbers AM; Calado RT; Young NS; Zwaan CM; Kajigaya S; Baruchel A; Geleijns K; de Haas V; Kaspers GJ; Reinhardt D; Trka J; Kuijpers TW; Pieters R; van der Velden VH; van den Heuvel-Eibrink MM
Br J Haematol; 2013 Feb; 160(4):559-61. PubMed ID: 23189942
[No Abstract] [Full Text] [Related]
35. [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]
36. 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]
37. [Pediatric Shwachman-diamond syndrome: report on 5 cases and literature review].
Wen XH; Xiao JW; Yu J; Xian Y; Guan XM; Guo YX
Zhongguo Dang Dai Er Ke Za Zhi; 2013 Nov; 15(11):970-4. PubMed ID: 24229590
[No Abstract] [Full Text] [Related]
38. Acquired copy number neutral loss of heterozygosity of chromosome 7 associated with clonal haematopoiesis in a patient with Shwachman-Diamond syndrome.
Parikh S; Perdigones N; Paessler M; Greenbaum B; Tooke LS; Biegel JA; Mason PJ; Bessler M
Br J Haematol; 2012 Nov; 159(4):480-2. PubMed ID: 22934832
[No Abstract] [Full Text] [Related]
39. Inherited bone marrow failure syndromes in adolescents and young adults.
Wilson DB; Link DC; Mason PJ; Bessler M
Ann Med; 2014 Sep; 46(6):353-63. PubMed ID: 24888387
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]
