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Convergent somatic evolution commences in utero in a germline ribosomopathy.
Machado HE, Øbro NF, Williams N, Tan S, Boukerrou AZ, Davies M, Belmonte M, Mitchell E, Baxter EJ, Mende N, Clay A, Ancliff P, Köglmeier J, Killick SB, Kulasekararaj A, Meyer S, Laurenti E, Campbell PJ, Kent DG, Nangalia J, Warren AJ. Machado HE, et al. Nat Commun. 2023 Aug 22;14(1):5092. doi: 10.1038/s41467-023-40896-5. Nat Commun. 2023. PMID: 37608017 Free PMC article.
In ~30% of colonies, we identify mutually exclusive mutations in TP53, EIF6, RPL5, RPL22, PRPF8, plus chromosome 7 and 15 aberrations that increase SBDS and EFL1 gene dosage, respectively. Target gene mutations commence in utero, resulting in a profusion of clonal expansio …
In ~30% of colonies, we identify mutually exclusive mutations in TP53, EIF6, RPL5, RPL22, PRPF8, plus chromosome 7 and 15 aberrations that i …
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. Biallelic pathogenic variants (PV) in SBDS account for >90% of SDS. We hypothe …
BACKGROUND AND OBJECTIVES: Shwachman Diamond syndrome (SDS) is an inherited bone marrow failure syndrome (IBMFS) associated with pancreatic …
SBDS interacts with RNF2 and is degraded through RNF2-dependent ubiquitination.
Sera Y, Sadoya M, Ichinose T, Matsuya S, Imanaka T, Yamaguchi M. Sera Y, et al. Biochem Biophys Res Commun. 2022 Apr 2;598:119-123. doi: 10.1016/j.bbrc.2022.02.014. Epub 2022 Feb 7. Biochem Biophys Res Commun. 2022. PMID: 35158210
Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder caused by mutation in the Shwachman-Bodian-Diamond syndrome (SBDS) gene that has a variety of clinical features, including exocrine pancreatic insufficiency and hematological dysfuncti …
Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder caused by mutation in the Shwachman-Bodian-Diamond synd …
Counteracting the Common Shwachman-Diamond Syndrome-Causing SBDS c.258+2T>C Mutation by RNA Therapeutics and Base/Prime Editing.
Peretto L, Tonetto E, Maestri I, Bezzerri V, Valli R, Cipolli M, Pinotti M, Balestra D. Peretto L, et al. Int J Mol Sci. 2023 Feb 16;24(4):4024. doi: 10.3390/ijms24044024. Int J Mol Sci. 2023. PMID: 36835434 Free PMC article.
Among all causative mutations, the SBDS c.258+2T>C variant at the 5' splice site (ss) of exon 2 is one of the most frequent. Here, we investigated the molecular mechanisms underlying aberrant SBDS splicing and showed that SBDS exon 2 is dense in splicing r …
Among all causative mutations, the SBDS c.258+2T>C variant at the 5' splice site (ss) of exon 2 is one of the most frequent. Here, …
Clinical features, epidemiology, and treatment of Shwachman-Diamond syndrome: a systematic review.
Han X, Lu S, Gu C, Bian Z, Xie X, Qiao X. Han X, et al. BMC Pediatr. 2023 Oct 6;23(1):503. doi: 10.1186/s12887-023-04324-3. BMC Pediatr. 2023. PMID: 37803383 Free PMC article.
METHODS: We searched the WangFang and China National Knowledge Infrastructure databases with the keywords "Shwachman-Diamond syndrome," "SDS," "SBDS gene" and "inherited bone marrow failure" for relevant articles published from January 2002 to October 2022. ...The detectio …
METHODS: We searched the WangFang and China National Knowledge Infrastructure databases with the keywords "Shwachman-Diamond syndrome," "SDS …
M phase-specific interaction between SBDS and RNF2 at the mitotic spindles regulates mitotic progression.
Sera Y, Imanaka T, Yamaguchi M. Sera Y, et al. Biochem Biophys Res Commun. 2023 Nov 19;682:118-123. doi: 10.1016/j.bbrc.2023.10.013. Epub 2023 Oct 4. Biochem Biophys Res Commun. 2023. PMID: 37806249
Shwachman-Diamond syndrome (SDS) is an autosomal recessive inherited disorder caused by biallelic mutations in the Shwachman-Bodian-Diamond syndrome (SBDS) gene. SBDS protein is involved in ribosome biogenesis; therefore SDS is classified as a r …
Shwachman-Diamond syndrome (SDS) is an autosomal recessive inherited disorder caused by biallelic mutations in the Shwachman-Bodian- …
Clinical and genetic spectrum of SBDS and DNAJC21 gene variants in bone marrow failure cases: Atypical and cryptic presentations.
Palla S, Bhatia P, Raina S, Sreedharanunni S, Khadwal A, Jain A, Malhotra P, Singh M, Trehan A. Palla S, et al. Blood Cells Mol Dis. 2025 Jul-Sep;113-114:102924. doi: 10.1016/j.bcmd.2025.102924. Epub 2025 Apr 5. Blood Cells Mol Dis. 2025. PMID: 40209608
Shwachman-Diamond syndrome (SDS) is a rare bone marrow failure disorder presenting with early onset cytopenia, chronic diarrhea, and failure to thrive with biallelic pathogenic variants in the SBDS (SDS1; 260400) gene. Recently, biallelic variants in DNAJC21 (BMFS3; 617052 …
Shwachman-Diamond syndrome (SDS) is a rare bone marrow failure disorder presenting with early onset cytopenia, chronic diarrhea, and failure …
Site-specific labeling of SBDS to monitor interactions with the 60S ribosomal subunit.
Biswas A, Peng YF, Kaushik V, Origanti S. Biswas A, et al. Methods. 2023 Mar;211:68-72. doi: 10.1016/j.ymeth.2023.02.004. Epub 2023 Feb 11. Methods. 2023. PMID: 36781034 Free PMC article.
The Shwachman-Diamond syndrome (SDS) is a rare inherited ribosomopathy that is predominantly caused by mutations in the Shwachman-Bodian-Diamond Syndrome gene (SBDS). SBDS is a ribosomal maturation factor that is essential for the release of euk …
The Shwachman-Diamond syndrome (SDS) is a rare inherited ribosomopathy that is predominantly caused by mutations in the Shwachman-Bodian …
Shwachman-Diamond syndromes: clinical, genetic, and biochemical insights from the rare variants.
Kawashima N, Oyarbide U, Cipolli M, Bezzerri V, Corey SJ. Kawashima N, et al. Haematologica. 2023 Oct 1;108(10):2594-2605. doi: 10.3324/haematol.2023.282949. Haematologica. 2023. PMID: 37226705 Free PMC article.
Approximately 90% of patients have biallelic pathogenic variants in the SBDS gene located on human chromosome 7q11. Over the past several years, pathogenic variants in three other genes have been identified to cause similar phenotypes; these are DNAJC21, EFL1, and SRP54. . …
Approximately 90% of patients have biallelic pathogenic variants in the SBDS gene located on human chromosome 7q11. Over the past sev …
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. Spinetti E, et al. Int J Mol Sci. 2022 Jul 19;23(14):7938. doi: 10.3390/ijms23147938. Int J Mol Sci. 2022. PMID: 35887285 Free PMC article.
The Shwachman-Diamond Syndrome (SDS) is an autosomal recessive disease whose majority of patients display mutations in a ribosome assembly protein named Shwachman-Bodian-Diamond Syndrome protein (SBDS). A specific therapy for treating this rare disease …
The Shwachman-Diamond Syndrome (SDS) is an autosomal recessive disease whose majority of patients display mutations in a ribosome assembly p …
39 results