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2. 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]
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4. 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]
5. 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]
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7. 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]
8. 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]
9. 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]
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. 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]
12. 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]
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. 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]
15. 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]
16. Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses. Ball HL; Zhang B; Riches JJ; Gandhi R; Li J; Rommens JM; Myers JS Hum Mol Genet; 2009 Oct; 18(19):3684-95. PubMed ID: 19602484 [TBL] [Abstract][Full Text] [Related]
17. Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation. Topa A; Tulinius M; Oldfors A; Hedberg-Oldfors C Am J Med Genet A; 2016 May; 170A(5):1155-64. PubMed ID: 26866830 [TBL] [Abstract][Full Text] [Related]
18. Cirrhosis complicating Shwachman-Diamond syndrome: A case report. Camacho SM; McLoughlin L; Nowicki MJ World J Clin Cases; 2019 Jun; 7(12):1456-1460. PubMed ID: 31363473 [TBL] [Abstract][Full Text] [Related]
19. 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]
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