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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.
BACKGROUND AND OBJECTIVES: Shwachman Diamond syndrome (SDS) is an inherited bone marrow failure syndrome (IBMFS) associated with pancreatic insufficiency, neutropenia, and skeletal dysplasia. ...CLINICAL TRIAL REGISTRATION: ClinicalTrials.gov Identifie …
BACKGROUND AND OBJECTIVES: Shwachman Diamond syndrome (SDS) is an inherited bone marrow failure syndrome (IBMFS) …
Shwachman-Diamond Syndrome: Molecular Mechanisms and Current Perspectives.
Bezzerri V, Cipolli M. Bezzerri V, et al. Mol Diagn Ther. 2019 Apr;23(2):281-290. doi: 10.1007/s40291-018-0368-2. Mol Diagn Ther. 2019. PMID: 30413969 Review.
Shwachman-Diamond syndrome (SDS) is a rare inherited disease mainly caused by mutations in the Shwachman-Bodian-Diamond Syndrome (SBDS) gene. ...Almost 15-20% of patients with SDS present myelodysplastic syndrome with a high risk o …
Shwachman-Diamond syndrome (SDS) is a rare inherited disease mainly caused by mutations in the Shwachman-Bodian- …
Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update.
Myers KC, Davies SM, Shimamura A. Myers KC, et al. Hematol Oncol Clin North Am. 2013 Feb;27(1):117-28, ix. doi: 10.1016/j.hoc.2012.10.003. Epub 2012 Nov 3. Hematol Oncol Clin North Am. 2013. PMID: 23351992 Free PMC article. Review.
Shwachman-Diamond syndrome (SDS) is an inherited neutropenia syndrome associated with a significant risk of aplastic anemia and malignant transformation. Multiple additional organ systems, including the pancreas, liver, and skeletal and central nervous …
Shwachman-Diamond syndrome (SDS) is an inherited neutropenia syndrome associated with a significant risk of apla …
Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome.
Warren AJ. Warren AJ. Adv Biol Regul. 2018 Jan;67:109-127. doi: 10.1016/j.jbior.2017.09.002. Epub 2017 Sep 6. Adv Biol Regul. 2018. PMID: 28942353 Free PMC article. Review.
In particular, recent advances in cryo-electron microscopy, coupled with genetic, biochemical and prior structural data, have revealed that the SBDS protein that is deficient in the inherited leukaemia predisposition disorder Shwachman-Diamond syndrome couple …
In particular, recent advances in cryo-electron microscopy, coupled with genetic, biochemical and prior structural data, have revealed that …
Clinical spectrum and molecular pathophysiology of Shwachman-Diamond syndrome.
Huang JN, Shimamura A. Huang JN, et al. Curr Opin Hematol. 2011 Jan;18(1):30-5. doi: 10.1097/MOH.0b013e32834114a5. Curr Opin Hematol. 2011. PMID: 21124213 Free PMC article. Review.
PURPOSE OF REVIEW: Shwachman-Diamond syndrome (SDS) is an inherited bone marrow failure and cancer predisposition syndrome that affects multiple organ systems. Mutations in the Shwachman-Bodian-Diamond syndrome (SBDS) gene are foun …
PURPOSE OF REVIEW: Shwachman-Diamond syndrome (SDS) is an inherited bone marrow failure and cancer predisposition sy …
Shwachman-Diamond syndrome: clinical phenotypes.
Cipolli M. Cipolli M. Pancreatology. 2001;1(5):543-8. doi: 10.1159/000055858. Pancreatology. 2001. PMID: 12120235 Review.
The clinical phenotype of Shwachman-Diamond syndrome (SDS) is extremely heterogeneous, showing a wide range of abnormalities and symptoms. The main characteristics of the syndrome are exocrine pancreatic dysfunction, haematologic abnormality and growth …
The clinical phenotype of Shwachman-Diamond syndrome (SDS) is extremely heterogeneous, showing a wide range of abnormal …
Spectrum of diabetes mellitus in patients with Shwachman-Diamond syndrome: case report and review of the literature.
Navasardyan LV, Furlan I, Brandt S, Schulz A, Wabitsch M, Denzer C. Navasardyan LV, et al. Ital J Pediatr. 2023 Aug 14;49(1):98. doi: 10.1186/s13052-023-01501-z. Ital J Pediatr. 2023. PMID: 37580732 Free PMC article. Review.
BACKGROUND: Shwachman-Diamond syndrome (SDS) is a rare congenital disorder caused by mutations in the SBDS gene and characterized by exocrine pancreatic deficiency, hematologic dysfunction, and skeletal growth failure. ...CONCLUSIONS: Considering that the SBD …
BACKGROUND: Shwachman-Diamond syndrome (SDS) is a rare congenital disorder caused by mutations in the SBDS gene and cha …
Mechanisms of leukemic transformation in congenital neutropenia.
Link DC. Link DC. Curr Opin Hematol. 2019 Jan;26(1):34-40. doi: 10.1097/MOH.0000000000000479. Curr Opin Hematol. 2019. PMID: 30431463 Free PMC article. Review.
PURPOSE OF REVIEW: The development of a myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) in patients with congenital neutropenia is now the major cause of mortality. ...This review focuses on mechanisms of leukemic transformation in severe congenital neutrope …
PURPOSE OF REVIEW: The development of a myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) in patients with congenital ne …
Molecular alterations governing predisposition to myelodysplastic syndromes: Insights from Shwachman-Diamond syndrome.
Shimamura A. Shimamura A. Best Pract Res Clin Haematol. 2021 Mar;34(1):101252. doi: 10.1016/j.beha.2021.101252. Epub 2021 Feb 6. Best Pract Res Clin Haematol. 2021. PMID: 33762106 Free PMC article. Review.
Identifying germline mutations responsible for genetic predisposition to myeloid malignancies would be useful in creating opportunities for early intervention. Recent genomic and functional studies in Shwachman-Diamond syndrome (SDS) have deciphered distinct …
Identifying germline mutations responsible for genetic predisposition to myeloid malignancies would be useful in creating opportunities for …
Genetic predisposition syndromes: when should they be considered in the work-up of MDS?
Babushok DV, Bessler M. Babushok DV, et al. Best Pract Res Clin Haematol. 2015 Mar;28(1):55-68. doi: 10.1016/j.beha.2014.11.004. Epub 2014 Nov 12. Best Pract Res Clin Haematol. 2015. PMID: 25659730 Free PMC article. Review.
Here, we will discuss the importance of recognizing an underlying genetic predisposition syndrome a patient with MDS, will review clinical scenarios when genetic predisposition should be considered, and will provide a practical overview of the common BMFS and familial MDS/ …
Here, we will discuss the importance of recognizing an underlying genetic predisposition syndrome a patient with MDS, will review cli …
29 results