Cagliano, Sara; Potenza, Marta; La Vecchia, Marta; Ellis, Steven R.; Dianzani, Irma; Aspesi, Anna (2025) Beyond Hematologic Malignancies: Colorectal Cancer as a Solid Tumor Manifestation of Inherited Bone Marrow Failure Syndromes. International Journal of Molecular Sciences, 26 (20). doi:10.3390/ijms262010105
| Reference Type | Journal (article/letter/editorial) | ||
|---|---|---|---|
| Title | Beyond Hematologic Malignancies: Colorectal Cancer as a Solid Tumor Manifestation of Inherited Bone Marrow Failure Syndromes | ||
| Journal | International Journal of Molecular Sciences | ||
| Authors | Cagliano, Sara | Author | |
| Potenza, Marta | Author | ||
| La Vecchia, Marta | Author | ||
| Ellis, Steven R. | Author | ||
| Dianzani, Irma | Author | ||
| Aspesi, Anna | Author | ||
| Year | 2025 (October 17) | Volume | 26 |
| Issue | 20 | ||
| Publisher | MDPI AG | ||
| DOI | doi:10.3390/ijms262010105Search in ResearchGate | ||
| Generate Citation Formats | |||
| Mindat Ref. ID | 19086566 | Long-form Identifier | mindat:1:5:19086566:7 |
| GUID | 0 | ||
| Full Reference | Cagliano, Sara; Potenza, Marta; La Vecchia, Marta; Ellis, Steven R.; Dianzani, Irma; Aspesi, Anna (2025) Beyond Hematologic Malignancies: Colorectal Cancer as a Solid Tumor Manifestation of Inherited Bone Marrow Failure Syndromes. International Journal of Molecular Sciences, 26 (20). doi:10.3390/ijms262010105 | ||
| Plain Text | Cagliano, Sara; Potenza, Marta; La Vecchia, Marta; Ellis, Steven R.; Dianzani, Irma; Aspesi, Anna (2025) Beyond Hematologic Malignancies: Colorectal Cancer as a Solid Tumor Manifestation of Inherited Bone Marrow Failure Syndromes. International Journal of Molecular Sciences, 26 (20). doi:10.3390/ijms262010105 | ||
| In | (2025, October) International Journal of Molecular Sciences Vol. 26 (20). MDPI AG | ||
References Listed
These are the references the publisher has listed as being connected to the article. Please check the article itself for the full list of references which may differ. Not all references are currently linkable within the Digital Library.
| Not Yet Imported: - journal-article : 10.5045/br.2022.2022012 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1111/bjh.14535 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.3390/ijms22052525 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: Blood Research - journal-article : 10.1007/s44313-024-00012-y If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1203/00006450-199911000-00011 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1016/S2352-3026(24)00063-2 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1136/jmg.2011.089821 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Gianferante (2024) EJHaem Genotype-phenotype Associations in Individuals with Diamond Blackfan Anaemia 5, 1117 | |
| Not Yet Imported: - journal-article : 10.1182/blood-2011-08-375972 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.3324/haematol.2021.279981 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1038/s41568-019-0105-0 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1182/blood-2014-10-569616 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
![]() | Webster, Andrew L. H., Sanders, Mathijs A., Patel, Krupa, Dietrich, Ralf, Noonan, Raymond J., Lach, Francis P., White, Ryan R., Goldfarb, Audrey, Hadi, Kevin, Edwards, Matthew M., Donovan, Frank X., Hoogenboezem, Remco M., Jung, Moonjung, Sridhar, Sunandini, Wiley, Tom F., Fedrigo, Olivier, Tian, Huasong, Rosiene, Joel, Heineman, Thomas, Kennedy, Jennifer A., Bean, Lorenzo, Rosti, Rasim O., Tryon, Rebecca, Gonzalez, Ashlyn-Maree, Rosenberg, Allana, Luo, Ji-Dung, Carroll, Thomas S., Shroff, Sanjana, Beaumont, Michael, Velleuer, Eunike, Rastatter, Jeff C., Wells, Susanne I., Surrallés, Jordi, Bagby, Grover, MacMillan, Margaret L., Wagner, John E., Cancio, Maria, Boulad, Farid, Scognamiglio, Theresa, Vaughan, Roger, Beaumont, Kristin G., Koren, Amnon, Imielinski, Marcin, Chandrasekharappa, Settara C., Auerbach, Arleen D., Singh, Bhuvanesh, Kutler, David I., Campbell, Peter J., Smogorzewska, Agata (2022) Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer. Nature, 612 (7940) 495-502 doi:10.1038/s41586-022-05253-4 |
| Roka (2024) Postgrad. Med. J. Telomere Biology Disorders: From Dyskeratosis Congenita and Beyond 100, 879 | |
| Not Yet Imported: - journal-article : 10.1016/j.clbc.2021.08.001 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: British Journal of Haematology - journal-article : 10.1111/j.1365-2141.2010.08212.x If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.3324/haematol.2017.178111 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: Cancer Genetics - journal-article : 10.1016/j.cancergen.2021.10.001 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1007/s12328-023-01886-8 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1182/blood-2002-05-1498 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1182/blood-2002-07-2170 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1016/j.trecan.2017.10.005 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Tummala (2024) EMBO Mol. Med. The Evolving Genetic Landscape of Telomere Biology Disorder Dyskeratosis Congenita 16, 2560 | |
| Savage, S.A., and Niewisch, M.R. (2023). Dyskeratosis Congenita and Related Telomere Biology Disorders. GeneReviews®, University of Washington. | |
| Not Yet Imported: - journal-article : 10.1182/blood-2008-12-192880 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Liu (2023) Leukemia Perspectives of Current Understanding and Therapeutics of Diamond-Blackfan Anemia 38, 1 | |
| Not Yet Imported: Pediatric Blood & Cancer - journal-article : 10.1002/pbc.28984 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.3390/genes13010056 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: British Journal of Haematology - journal-article : 10.1111/bjh.16508 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: Haematologica - journal-article : 10.3324/haematol.2023.282949 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: Pediatric Research - journal-article : 10.1038/s41390-022-02009-8 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1002/pbc.29071 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1002/pbc.24052 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1002/pbc.24453 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: Journal of Clinical Oncology - journal-article : 10.1200/JCO.21.02112 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1186/s12885-023-11328-w If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1172/jci.insight.148931 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
![]() | AlDubayan, Saud H., Giannakis, Marios, Moore, Nathanael D., Han, G. Celine, Reardon, Brendan, Hamada, Tsuyoshi, Mu, Xinmeng Jasmine, Nishihara, Reiko, Qian, Zhirong, Liu, Li, Yurgelun, Matthew B., Syngal, Sapna, Garraway, Levi A., Ogino, Shuji, Fuchs, Charles S., Van Allen, Eliezer M. (2018) Inherited DNA-Repair Defects in Colorectal Cancer. The American Journal of Human Genetics, 102 (3) 401-414 doi:10.1016/j.ajhg.2018.01.018 |
| Not Yet Imported: - journal-article : 10.1038/gim.2015.166 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.3390/cancers14071732 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1136/gutjnl-2022-327736 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Li (2024) Signal Transduct. Target. Ther. Signaling Pathways Involved in Colorectal Cancer: Pathogenesis and Targeted Therapy 9, 266 | |
| Moore, C.A., and Krishnan, K. (2023). Bone Marrow Failure. StatPearls [Internet], StatPearls. | |
| Not Yet Imported: - journal-article : 10.1182/hematology.2023000488 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1097/00043426-200108000-00015 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1093/hmg/ddaa087 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: Human Genetics - journal-article : 10.1007/s00439-022-02462-9 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1182/blood.2019003249 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
![]() | Ameziane, Najim, May, Patrick, Haitjema, Anneke, van de Vrugt, Henri J., van Rossum-Fikkert, Sari E., Ristic, Dejan, Williams, Gareth J., Balk, Jesper, Rockx, Davy, Li, Hong, Rooimans, Martin A., Oostra, Anneke B., Velleuer, Eunike, Dietrich, Ralf, Bleijerveld, Onno B., Maarten Altelaar, A. F., Meijers-Heijboer, Hanne, Joenje, Hans, Glusman, Gustavo, Roach, Jared, Hood, Leroy, Galas, David, Wyman, Claire, Balling, Rudi, den Dunnen, Johan, de Winter, Johan P., Kanaar, Roland, Gelinas, Richard, Dorsman, Josephine C. (2015) A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51. Nature Communications, 6. doi:10.1038/ncomms9829 |
| Zhong (2024) Medicine Clinical and Genetic Features of Fanconi Anemia Associated with a Variant of FANCA Gene: Case Report and Literature Review 103, e39358 | |
| Not Yet Imported: - journal-article : 10.1111/ejh.13990 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: Genes - journal-article : 10.3390/genes12101520 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Beddok (2025) Cancer Lett. Strategies for Early Detection and Detailed Characterization of Oral Lesions and Head and Neck Squamous Cell Carcinoma in Fanconi Anemia Patients 617, 217529 | |
| Not Yet Imported: - journal-article : 10.3324/haematol.12234 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: Clinical Cancer Research - journal-article : 10.1158/1078-0432.CCR-21-1259 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| de Pablo García-Cuenca, A., Rofín-Fontanet, P., Lorente-Guerrero, J., Balmaña-Gelpí, J., Carrasco-López, E., Temprana-Salvador, J., Granado-Carrasco, R., Braña-García, I., Vaquero-Martínez, P., and Pujol-Pina, R. (2025). Head and Neck Cancer in Fanconi Anemia: Report of 11 Cases and a Systematic Review. Cancers, 17. | |
| Not Yet Imported: - journal-article : 10.1002/ajh.23153 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1016/j.gde.2015.07.002 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: Genetics in Medicine - journal-article : 10.1038/gim.2017.124 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1038/gim.2017.123 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.3390/jpm12030396 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: Genetics in Medicine - journal-article : 10.1016/j.gim.2023.101042 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1016/j.gim.2021.08.013 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1038/ng1959 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1038/ejhg.2016.44 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: Molecular Genetics & Genomic Medicine - journal-article : 10.1002/mgg3.1532 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1007/s00439-021-02257-4 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Liao (2023) Aging Dis. Telomeres: Dysfunction, Maintenance, Aging and Cancer 15, 2595 | |
| Not Yet Imported: - journal-article : 10.12703/r/11-31 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1080/17474086.2022.2108784 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1007/s10522-023-10080-9 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Tometten (2025) Blood Adv. Late-Onset Telomere Biology Disorders in Adults: Clinical Insights and Treatment Outcomes from a Retrospective Registry Cohort 9, 2183 | |
| Ono (2024) Surg. Case Rep. Locally Advanced Rectal Cancer in a Young Adult Affected with Dyskeratosis Congenita (Zinsser–Cole–Engman Syndrome): A Case Report 10, 206 | |
| Not Yet Imported: - journal-article : 10.1186/s13256-019-2044-5 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1182/blood.2019000947 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: Blood Reviews - journal-article : 10.1016/j.blre.2023.101097 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1182/blood-2006-07-038232 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: Cell Death & Differentiation - journal-article : 10.1038/s41418-022-00999-w If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1172/jci.insight.161810 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1126/scitranslmed.aaf3006 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1016/j.exphem.2021.02.010 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1182/blood-2018-05-848937 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1053/j.gastro.2019.10.026 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1053/j.gastro.2014.06.009 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: Gastroenterology - journal-article : 10.1053/j.gastro.2016.09.041 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1111/cge.13757 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Amiot (2025) Fam. Cancer New RPS20 Gene Variant in Colorectal Cancer Diagnosis: Insight from a Large Series of Patients 24, 22 | |
| Not Yet Imported: Frontiers in Genetics - journal-article : 10.3389/fgene.2020.566266 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1002/humu.24092 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: BMC Pediatrics - journal-article : 10.1186/s12887-023-04324-3 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1038/s41598-020-71844-8 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Oyarbide (2025) J. Clin. Investig. Reduced EIF6 Dosage Attenuates TP53 Activation in Models of Shwachman-Diamond Syndrome 135, e187778 | |
| Not Yet Imported: - journal-article : 10.1182/blood.2022017739 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1182/bloodadvances.2021005539 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.3324/haematol.2011.057489 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Morecroft (2024) Transl. Breast Cancer Res. Chemotherapy-Induced Neutropenia Management in a Patient with Metastatic Breast Cancer and Shwachman-Diamond Syndrome (SDS): A Case Report 5, 26 | |
| Not Yet Imported: Molecular Oncology - journal-article : 10.1002/1878-0261.13548 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1016/j.ejca.2021.12.023 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1002/mgg3.2332 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - posted-content : 10.20944/preprints202011.0563.v2 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1038/s41594-021-00568-8 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: Genes - journal-article : 10.3390/genes11050585 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: Blood - journal-article : 10.1182/blood-2014-04-526293 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1242/jcs.204909 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.15252/embj.201693860 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1038/s41392-024-01767-7 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
![]() | |
| Not Yet Imported: Oncogene - journal-article : 10.1038/s41388-023-02800-9 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: Gastroenterology - journal-article : 10.1053/j.gastro.2009.12.065 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: Nature Reviews Molecular Cell Biology - journal-article : 10.1038/nrm.2016.43 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: Cell Discovery - journal-article : 10.1038/s41421-022-00389-z If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1172/JCI33764 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Sera (2024) Drug Discov. Ther. Mitotic Abnormalities and Spindle Assembly Checkpoint Inactivation in a Cell Model of Shwachman-Diamond Syndrome with Mutations in the Shwachman-Bodian-Diamond Syndrome Gene, 258+2T > C 18, 283 | |
| Not Yet Imported: - journal-article : 10.1002/pbc.26454 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: British Journal of Haematology - journal-article : 10.1111/j.1365-2141.2009.07611.x If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
![]() | |
| Not Yet Imported: - journal-article : 10.1016/j.stem.2012.05.013 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1182/blood-2010-07-295238 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1016/j.stemcr.2017.06.015 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Marion (2020) Blood Adv. An Induced Pluripotent Stem Cell Model of Fanconi Anemia Reveals Mechanisms of P53-Driven Progenitor Cell Differentiation 4, 4679 | |
| Not Yet Imported: - journal-article : 10.1182/hematology.2021000271 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
![]() | Kennedy, Alyssa L., Myers, Kasiani C., Bowman, James, Gibson, Christopher J., Camarda, Nicholas D., Furutani, Elissa, Muscato, Gwen M., Klein, Robert H., Ballotti, Kaitlyn, Liu, Shanshan, Harris, Chad E., Galvin, Ashley, Malsch, Maggie, Dale, David, Gansner, John M., Nakano, Taizo A., Bertuch, Alison, Vlachos, Adrianna, Lipton, Jeffrey M., Castillo, Paul, Connelly, James, Churpek, Jane, Edwards, John R., Hijiya, Nobuko, Ho, Richard H., Hofmann, Inga, Huang, James N., Keel, Siobán, Lamble, Adam, Lau, Bonnie W., Norkin, Maxim, Stieglitz, Elliot, Stock, Wendy, Walkovich, Kelly, Boettcher, Steffen, Brendel, Christian, Fleming, Mark D., Davies, Stella M., Weller, Edie A., Bahl, Christopher, Carter, Scott L., Shimamura, Akiko, Lindsley, R. Coleman (2021) Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome. Nature Communications, 12 (1) doi:10.1038/s41467-021-21588-4 |
| Not Yet Imported: - journal-article : 10.2119/2007-00122.Yamamoto If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1080/15384101.2024.2333227 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
![]() | |
| Not Yet Imported: Molecular and Cellular Biology - journal-article : 10.1128/MCB.01400-08 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1371/journal.pone.0076473 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: PLOS ONE - journal-article : 10.1371/journal.pone.0148793 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: Cell Reports - journal-article : 10.1016/j.celrep.2022.111571 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1016/j.celrep.2013.05.045 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Weinstein (2024) Cell Rep. RPL22 Is a Tumor Suppressor in MSI-High Cancers and a Splicing Regulator of MDM4 43, 114622 | |
| Jansen (2024) Cell Rep. The Ribosomal Protein L22 Binds the MDM4 Pre-MRNA and Promotes Exon Skipping to Activate P53 upon Nucleolar Stress 43, 114610 | |
![]() | Aspesi, Anna, Monteleone, Valentina, Betti, Marta, Actis, Chiara, Morleo, Giulia, Sculco, Marika, Guarrera, Simonetta, Wlodarski, Marcin W., Ramenghi, Ugo, Santoro, Claudio, Ellis, Steven R., Loreni, Fabrizio, Follenzi, Antonia, Dianzani, Irma (2017) Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy. Scientific Reports, 7. doi:10.1038/s41598-017-12307-5 |
| Not Yet Imported: - journal-article : 10.1016/j.bbadis.2013.12.013 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Jansen (2025) Trends Cell Biol. MDM4 Exon Skipping upon Dysfunctional Ribosome Assembly 35, 544 | |
| Lindström, M.S. (2025). The Central Role of Ribosomal Proteins in P53 Regulation. Cancers, 17. | |
| Fan (2025) Cell Chem. Biol. Ribosomal RNA Transcription Regulates Splicing through Ribosomal Protein RPL22 32, 908 | |
| Not Yet Imported: - journal-article : 10.1038/s41419-020-2393-4 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Sera (2024) Biol. Pharm. Bull. SBDS Gene Mutation Increases ROS Production and Causes DNA Damage as Well as Oxidation of Mitochondrial Membranes in the Murine Myeloid Cell Line 32Dcl3 47, 1376 | |
![]() | Frattini, Annalisa, Bolamperti, Simona, Valli, Roberto, Cipolli, Marco, Pinto, Rita Maria, Bergami, Elena, Frau, Maria Rita, Cesaro, Simone, Signo, Michela, Bezzerri, Valentino, Porta, Giovanni, Khan, Abdul Waheed, Rubinacci, Alessandro, Villa, Isabella (2021) Enhanced p53 Levels Are Involved in the Reduced Mineralization Capacity of Osteoblasts Derived from Shwachman–Diamond Syndrome Subjects. International Journal of Molecular Sciences, 22 (24) 13331pp. doi:10.3390/ijms222413331 |
| Not Yet Imported: Pediatric Blood & Cancer - journal-article : 10.1002/pbc.22700 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
![]() | Ravera, Silvia, Dufour, Carlo, Cesaro, Simone, Bottega, Roberta, Faleschini, Michela, Cuccarolo, Paola, Corsolini, Fabio, Usai, Cesare, Columbaro, Marta, Cipolli, Marco, Savoia, Anna, Degan, Paolo, Cappelli, Enrico (2016) Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome. Scientific Reports, 6. doi:10.1038/srep25441 |
| Not Yet Imported: - journal-article : 10.1186/s13046-019-1375-9 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1158/1535-7163.MCT-06-0336 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: Cancer Cell - journal-article : 10.1016/j.ccr.2013.03.022 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Testa, U., Castelli, G., and Pelosi, E. (2025). Clonal Hematopoiesis, a Risk Condition for Developing Myeloid Neoplasia. Hemato, 6. | |
| Patnaik (2023) Hematology Clonal Hematopoiesis in Inherited Bone Marrow Failure Syndromes: Adaptive Origins With Maladaptive Consequences? 20, 1615 | |
| Neoman (2025) Stem Cells Inflammatory Pathways and the Bone Marrow Microenvironment in Inherited Bone Marrow Failure Syndromes 43, sxaf021 | |
| Not Yet Imported: - journal-article : 10.3390/biom13081249 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1182/blood-2003-01-0114 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1038/s41418-021-00764-5 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1016/j.stem.2016.03.002 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Yang (2020) Exp. Hematol. Inhibition of TGFβ1 and TGFβ3 Promotes Hematopoiesis in Fanconi Anemia 93, 70 | |
| Not Yet Imported: American Journal of Hematology - journal-article : 10.1002/ajh.24046 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1002/pbc.26599 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1111/j.1399-3038.2010.01136.x If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1046/j.1365-2141.1999.01690.x If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1111/bjh.15915 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Ragab (2025) Blood Cells Mol. Dis. Immunodeficiency in Children with Diamond Blackfan and Diamond Blackfan like Anemia 111, 102911 | |
| Not Yet Imported: - journal-article : 10.1002/pbc.22885 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1172/JCI125375 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Sabbioni (2025) Mol. Med. Constitutive Systemic Inflammation in Shwachman-Diamond Syndrome 31, 81 | |
| Kulanuwat (2018) Mol. Med. Rep. Fanconi Anemia Complementation Group C Protection against Oxidative Stress-Induced ß-Cell Apoptosis 18, 2485 | |
| Not Yet Imported: Metabolites - journal-article : 10.3390/metabo12010006 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1007/s12015-022-10370-8 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.3390/biology10040253 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1172/JCI83054 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1016/j.gene.2014.04.077 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.3390/ijms21249652 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1093/nar/gkz637 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1002/jcb.28660 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
![]() | |
| Not Yet Imported: - journal-article : 10.3390/antiox12040901 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1016/j.cell.2018.02.036 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1182/blood-2011-06-358200 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1038/nm.3557 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: Nucleic Acids Research - journal-article : 10.1093/nar/gkw005 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
![]() | |
| Not Yet Imported: - journal-article : 10.1038/nrc1015 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: The FASEB Journal - journal-article : 10.1096/fj.15-270991 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.1371/journal.pone.0139740 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.3390/nu12051355 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.2174/0115748871260815231116060817 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
| Not Yet Imported: - journal-article : 10.4149/neo_2022_220724N745 If you would like this item imported into the Digital Library, please contact us quoting Journal ID | |
![]() |
See Also
These are possibly similar items as determined by title/reference text matching only.
