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Translational Studies of Inherited Marrow Failure and Myelodysplastic Syndromes

Description: PUBLIC HEALTH RELEVANCE: This project focuses on clinical, pathological, genetic, and molecular studies of bone marrow failure and myelodysplastic syndromes (MDS). Identification of the molecular causes of these disorders informs medical therapy for these disorders. This project will advance our understanding of the mechanisms of blood cell production with the goal of developing new diagnostic tests and treatments for marrow failure and MDS.
Funding type: research
Funder scheme: R24
Start date: 2013-09-29
End date: 2019-08-31
Investigator: JANIS L ABKOWITZ
Institution: BOSTON CHILDREN'S HOSPITAL
Subfield: Hematology
Field: Medicine
Funded outputs count: 67
Funder award ID: R24DK099808
OpenAlex ID: G44188504
Adult presentation of Shwachman-Diamond syndrome complicated by liver cirrhosis and pancreatic fat infiltration: A case report
2025 · Hai-Jun Guo · World Journal of Hepatology
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Successful cord blood transplantation for del7q myelodysplastic syndrome in Pearson marrow pancreas syndrome
2023 · Zacharia H. Belgacem, Sonia M. Dubois, et al. · American Journal of Hematology · 6
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Thymidine nucleotide metabolism controls human telomere length
2023 · William Mannherz, Suneet Agarwal · Nature Genetics · 77
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Hematologic complications with age in Shwachman-Diamond syndrome
2021 · Elissa Furutani, Shanshan Liu, et al. · Blood Advances · 57
Congenital X‐linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6
2021 · Raffaele Renella, Katelyn Gagne, et al. · American Journal of Hematology · 8
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Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome
2021 · Alyssa L. Kennedy, Kasiani C. Myers, et al. · Nature Communications · 182
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Molecular alterations governing predisposition to myelodysplastic syndromes: Insights from Shwachman-Diamond syndrome
2021 · Akiko Shimamura · Best Practice & Research Clinical Haematology · 6
Germline variants drive myelodysplastic syndrome in young adults
2021 · Simone Feurstein, Jane E. Churpek, et al. · Leukemia · 68
A study assessing the feasibility of randomization of pediatric and young adult patients between matched unrelated donor bone marrow transplantation and immune‐suppressive therapy for newly diagnosed severe aplastic anemia: A joint pilot trial of the North American Pediatric Aplastic Anemia Consortium and the Pediatric Transplantation and Cellular Therapy Consortium
2020 · Michael A. Pulsipher, Leslie E. Lehmann, et al. · Pediatric Blood & Cancer · 26
Distinct genetic pathways define pre-leukemic and compensatory clonal hematopoiesis in Shwachman-Diamond syndrome
2020 · Alyssa L. Kennedy, Kasiani C. Myers, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 6
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Small-Molecule PAPD5 Inhibitors Restore Telomerase Activity in Patient Stem Cells
2020 · Neha Nagpal, Jianing Wang, et al. · Cell stem cell · 105
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Inflammatory manifestations in patients with Shwachman–Diamond syndrome: A novel phenotype
2020 · Elissa Furutani, Ankoor S. Shah, et al. · American Journal of Medical Genetics Part A · 17
Comparison of Outcomes of Myeloablative Allogeneic Stem Cell Transplantation for Pediatric Patients with Bone Marrow Failure, Myelodysplastic Syndrome and Acute Myeloid Leukemia with and without Germline GATA2 Mutations
2020 · Inga Hofmann, Serine Avagyan, et al. · Transplantation and Cellular Therapy · 36
On-chip recapitulation of clinical bone marrow toxicities and patient-specific pathophysiology
2020 · David B. Chou, Viktoras Frismantas, et al. · Nature Biomedical Engineering · 294
Histologic and Laboratory Characteristics of Symptomatic and Asymptomatic Castleman Disease in the Pediatric Population
2020 · Karen M Chisholm, Mark D Fleming · American Journal of Clinical Pathology · 13
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Clinical features and outcomes of patients with Shwachman-Diamond syndrome and myelodysplastic syndrome or acute myeloid leukaemia: a multicentre, retrospective, cohort study
2019 · Kasiani C Myers, Elissa Furutani, et al. · The Lancet Haematology · 119
Genetic predisposition to MDS: diagnosis and management
2019 · Elissa Furutani, Akiko Shimamura · Hematology · 16
TGF-β signaling underlies hematopoietic dysfunction and bone marrow failure in Shwachman-Diamond syndrome
2019 · Cailin E. Joyce, Assieh Saadatpour, et al. · Journal of Clinical Investigation · 33
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Therapeutic discovery for marrow failure with MDS predisposition using pluripotent stem cells
2019 · Melisa Ruiz-Gutierrez, Özge Vargel Bölükbaşı, et al. · JCI Insight · 17
Immunosuppressive therapy for pediatric aplastic anemia: a North American Pediatric Aplastic Anemia Consortium study
2019 · Zora R. Rogers, Taizo A. Nakano, et al. · Haematologica · 71
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Genetic predisposition to MDS: clinical features and clonal evolution
2019 · Alyssa L. Kennedy, Akiko Shimamura · Blood · 143
Bone Marrow Morphology Associated With Germline RUNX1 Mutations in Patients With Familial Platelet Disorder With Associated Myeloid Malignancy
2019 · Karen M Chisholm, Christopher Denton, et al. · Pediatric and Developmental Pathology · 28
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Neutropenia in the age of genetic testing: Advances and challenges
2018 · Elissa Furutani, Peter E. Newburger, et al. · American Journal of Hematology · 30
The molecular genetics of sideroblastic anemia
2018 · Sarah Ducamp, Mark D. Fleming · Blood · 136
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Human bone marrow disorders recapitulated in vitro using organ chip technology
2018 · David B. Chou, Viktoras Frismantas, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 7
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