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Shwachman-Diamond Syndrome.
Nelson A, Myers K. Nelson A, et al. 2008 Jul 17 [updated 2018 Oct 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2008 Jul 17 [updated 2018 Oct 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301722 Free Books & Documents. Review.
DIAGNOSIS/TESTING: The diagnosis of SDS is established in a proband with the classic clinical findings of exocrine pancreatic dysfunction and bone marrow dysfunction and/or biallelic pathogenic variants in DNAJC21, EFL1, or SBDS or a heterozygous pathogenic variant in SRP5 …
DIAGNOSIS/TESTING: The diagnosis of SDS is established in a proband with the classic clinical findings of exocrine pancreatic dysfunction an …
Predisposition to myeloid malignancies in Shwachman-Diamond syndrome: biological insights and clinical advances.
Reilly CR, Shimamura A. Reilly CR, et al. Blood. 2023 Mar 30;141(13):1513-1523. doi: 10.1182/blood.2022017739. Blood. 2023. PMID: 36542827 Free PMC article. Review.
The pathobiology of SDS results from impaired ribosomal maturation due to the deficiency of SBDS and the inability to evict the antiassociation factor eIF6 from the 60S ribosomal subunit. ...
The pathobiology of SDS results from impaired ribosomal maturation due to the deficiency of SBDS and the inability to evict the antia …
Dual regulation of p53 by the ribosome maturation factor SBDS.
Hao Q, Wang J, Chen Y, Wang S, Cao M, Lu H, Zhou X. Hao Q, et al. Cell Death Dis. 2020 Mar 20;11(3):197. doi: 10.1038/s41419-020-2393-4. Cell Death Dis. 2020. PMID: 32198344 Free PMC article.
The Shwachman-Bodian Diamond syndrome (SBDS)-associated gene, SBDS, is involved in rRNA synthesis and ribosome maturation, but the role of SBDS in cancer is largely elusive. In this study, we found that SBDS is often overexpressed or amplified i …
The Shwachman-Bodian Diamond syndrome (SBDS)-associated gene, SBDS, is involved in rRNA synthesis and ribosome maturation, but …
Prognostic Mutations in Myelodysplastic Syndrome after Stem-Cell Transplantation.
Lindsley RC, Saber W, Mar BG, Redd R, Wang T, Haagenson MD, Grauman PV, Hu ZH, Spellman SR, Lee SJ, Verneris MR, Hsu K, Fleischhauer K, Cutler C, Antin JH, Neuberg D, Ebert BL. Lindsley RC, et al. N Engl J Med. 2017 Feb 9;376(6):536-547. doi: 10.1056/NEJMoa1611604. N Engl J Med. 2017. PMID: 28177873 Free PMC article.
In young adults, 4% of the patients had compound heterozygous mutations in the Shwachman-Diamond syndrome-associated SBDS gene with concurrent TP53 mutations and a poor prognosis. Mutations in the p53 regulator PPM1D were more common among patients with therapy-related MDS …
In young adults, 4% of the patients had compound heterozygous mutations in the Shwachman-Diamond syndrome-associated SBDS gene with c …
FCN3 inhibits the progression of hepatocellular carcinoma by suppressing SBDS-mediated blockade of the p53 pathway.
Ma D, Liu P, Wen J, Gu Y, Yang Z, Lan J, Fan H, Liu Z, Guo D. Ma D, et al. Int J Biol Sci. 2023 Jan 1;19(2):362-376. doi: 10.7150/ijbs.69784. eCollection 2023. Int J Biol Sci. 2023. PMID: 36632465 Free PMC article.
Hepatocellular carcinoma (HCC) is the third-leading cause of cancer deaths globally. Although considerable progress has been made in the treatment, clinical outcomes of HCC patients are still poor. ...In addition, Y-Box Binding Protein 1 (YBX1) involved in the transcriptio …
Hepatocellular carcinoma (HCC) is the third-leading cause of cancer deaths globally. Although considerable progress has been made in …
Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features.
Thompson AS, Giri N, Gianferante DM, Jones K, Savage SA, Alter BP, McReynolds LJ. Thompson AS, et al. Pediatr Res. 2022 Dec;92(6):1671-1680. doi: 10.1038/s41390-022-02009-8. Epub 2022 Mar 23. Pediatr Res. 2022. PMID: 35322185 Free PMC article. Review.
METHODS: We reviewed records of all patients with SDS or SDS-like syndromes in the National Cancer Institute's (NCI) IBMFS study. Additional published SDS cohorts were reviewed and compared with the NCI cohort. RESULTS: PVs in SBDS were present in 32/47 (68.1%) part …
METHODS: We reviewed records of all patients with SDS or SDS-like syndromes in the National Cancer Institute's (NCI) IBMFS study. Add …
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. Liu Y, et al. Cell Rep. 2018 Feb 13;22(7):1849-1860. doi: 10.1016/j.celrep.2018.01.057. Cell Rep. 2018. PMID: 29444436 Free PMC article.
Here we provide data to elucidate the role of SBDS in telomere protection. We demonstrate that SBDS deficiency leads to telomere shortening. We found that overexpression of disease-associated SBDS mutants or knockdown of SBDS hampered the recruitment o …
Here we provide data to elucidate the role of SBDS in telomere protection. We demonstrate that SBDS deficiency leads to telome …
SBDS(R126T) rescues survival of sbds (-/-) zebrafish in a dose-dependent manner independently of Tp53.
Oyarbide U, Shah AN, Staton M, Snyderman M, Sapra A, Calo E, Corey SJ. Oyarbide U, et al. Life Sci Alliance. 2023 Oct 10;6(12):e202201856. doi: 10.26508/lsa.202201856. Print 2023 Dec. Life Sci Alliance. 2023. PMID: 37816584 Free PMC article.
Here, we expressed SBDS (R126T) as a transgene in the sbds (-/-) background. We showed that one copy of the SBDS (R126T) transgene permitted the establishment of maternal zygotic sbds-null fish which produced defective embryos with cdkn1a up-regulation …
Here, we expressed SBDS (R126T) as a transgene in the sbds (-/-) background. We showed that one copy of the SBDS (R126T …
Expression of the Shwachman-Bodian-Diamond syndrome (SBDS) protein in human pancreatic cancer and chronic pancreatitis.
Kayed H, Bekasi S, Keleg S, Welsch T, Esposito I, Shimamura A, Michalski CW, Friess H, Kleeff J. Kayed H, et al. Histol Histopathol. 2008 Jul;23(7):819-26. doi: 10.14670/HH-23.819. Histol Histopathol. 2008. PMID: 18437680
Different levels of SBDS protein were detected in cultured pancreatic cancer cell lines. CONCLUSION: SBDS is expressed in normal, CP, and PDAC tissues, as well as in pancreatic cancer cell lines. ...
Different levels of SBDS protein were detected in cultured pancreatic cancer cell lines. CONCLUSION: SBDS is expressed …
The metabolic basis of inherited neutropenias.
Oyarbide U, Crane GM, Corey SJ. Oyarbide U, et al. Br J Haematol. 2024 Jan;204(1):45-55. doi: 10.1111/bjh.19192. Epub 2023 Dec 4. Br J Haematol. 2024. PMID: 38049194 Review.
Among these are pathogenic mutations in HAX1, G6PC3, SLC37A4, TAFAZZIN, SBDS, EFL1 and the mitochondrial disorders. These mutations perturb carbohydrate, lipid and/or protein metabolism. ...
Among these are pathogenic mutations in HAX1, G6PC3, SLC37A4, TAFAZZIN, SBDS, EFL1 and the mitochondrial disorders. These mutations p …
123 results