{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,27]],"date-time":"2025-12-27T16:31:52Z","timestamp":1766853112733,"version":"3.48.0"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,6,28]],"date-time":"2025-06-28T00:00:00Z","timestamp":1751068800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2025,6,28]],"date-time":"2025-06-28T00:00:00Z","timestamp":1751068800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Biol Rep"],"published-print":{"date-parts":[[2025,12]]},"DOI":"10.1007\/s11033-025-10759-x","type":"journal-article","created":{"date-parts":[[2025,6,28]],"date-time":"2025-06-28T05:06:15Z","timestamp":1751087175000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Association of TGF-\u03b21 -509\u00a0C\u2009&gt;\u2009T (rs1800469) polymorphism with bone marrow failure severity in Fanconi anemia subjects"],"prefix":"10.1007","volume":"52","author":[{"given":"Niranjan Sheshrao","family":"Chavan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Merin","family":"George","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Somprakash","family":"Dhangar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shraddha","family":"Hadkar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jagadeeshwar","family":"Ghatanatti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aruna","family":"Rajendran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandeep","family":"Nemani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sangeeta","family":"Mudaliar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mamta","family":"Manglani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pranoti","family":"kini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4783-2691","authenticated-orcid":false,"given":"Babu Rao","family":"Vundinti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,6,28]]},"reference":[{"key":"10759_CR1","unstructured":"Mehta PA, Ebens C Fanconi Anemia, in GeneReviews\u00ae, M. P. Adam, J. Feldman, G. M. Mirzaa, R. A. Pagon, S. E. Wallace, and A. Amemiya, Eds., Seattle (WA): University of Washington, Seattle, 1993. Accessed: Apr. 25, 2025. [Online]. Available: http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1401\/"},{"key":"10759_CR2","doi-asserted-by":"publisher","unstructured":"Kottemann MC, Smogorzewska A (2013) Fanconi anaemia and the repair of Watson and Crick DNA crosslinks, Nature 493(7432):356\u2013363. https:\/\/doi.org\/10.1038\/nature11863","DOI":"10.1038\/nature11863"},{"key":"10759_CR3","doi-asserted-by":"publisher","unstructured":"Kim H, D\u2019Andrea AD (2012) Regulation of DNA cross-link repair by the Fanconi anemia\/brca pathway. Genes Dev 26:1393\u20131408. https:\/\/doi.org\/10.1101\/gad.195248.112","DOI":"10.1101\/gad.195248.112"},{"key":"10759_CR4","doi-asserted-by":"publisher","unstructured":"Nepal M, Che R, Zhang J, Ma C, Fei P (2017) Fanconi Anemia Signaling and Cancer, Trends Cancer 3(12):840\u2013856. https:\/\/doi.org\/10.1016\/j.trecan.2017.10.005","DOI":"10.1016\/j.trecan.2017.10.005"},{"key":"10759_CR5","doi-asserted-by":"publisher","unstructured":"Liu S, Vivona E, Kurre P (2025) Why hematopoietic stem cells fail in Fanconi anemia: mechanisms and models. BioEssays 47(1):2400191. https:\/\/doi.org\/10.1002\/bies.202400191","DOI":"10.1002\/bies.202400191"},{"key":"10759_CR6","doi-asserted-by":"publisher","unstructured":"Zhang H et al (2016) TGF-\u03b2 Inhibition rescues hematopoietic stem cell defects and bone marrow failure in Fanconi Anemia. Cell Stem Cell 18(5):668\u2013681. https:\/\/doi.org\/10.1016\/j.stem.2016.03.002","DOI":"10.1016\/j.stem.2016.03.002"},{"key":"10759_CR7","doi-asserted-by":"publisher","unstructured":"Korthof ET et al (2013) Immunological profile of Fanconi anemia: A multicentric retrospective analysis of 61 patients, Am. J. Hematol 88(6):472\u2013476. https:\/\/doi.org\/10.1002\/ajh.23435","DOI":"10.1002\/ajh.23435"},{"key":"10759_CR8","doi-asserted-by":"publisher","unstructured":"Rodr\u00edguez A et al (2021) Inhibition of TGF\u03b21 and TGF\u03b23 promotes hematopoiesis in Fanconi anemia. Exp Hematol 93:70\u201384. https:\/\/doi.org\/10.1016\/j.exphem.2020.11.002..e4","DOI":"10.1016\/j.exphem.2020.11.002"},{"key":"10759_CR9","doi-asserted-by":"publisher","unstructured":"Du L, Gong T, Yao M, Dai H, Ren HG, Wang H (2019) Contribution of the polymorphism rs1800469 of transforming growth factor \u03b2 in the development of myocardial infarction: meta-analysis of 5460 cases and 8413 controls (MOOSE-compliant article), Medicine (Baltimore) 98(26):e15946. https:\/\/doi.org\/10.1097\/MD.0000000000015946","DOI":"10.1097\/MD.0000000000015946"},{"key":"10759_CR10","doi-asserted-by":"publisher","unstructured":"Shabrish S et al (2019) Natural killer cell degranulation defect: A cause for impaired NK-Cell cytotoxicity and hyperinflammation in Fanconi Anemia patients. Front Immunol 10:490. https:\/\/doi.org\/10.3389\/fimmu.2019.00490","DOI":"10.3389\/fimmu.2019.00490"},{"key":"10759_CR11","doi-asserted-by":"publisher","unstructured":"Cross DS, Ivacic LC, Stefanski EL, McCarty CA (2010) Population based allele frequencies of disease associated polymorphisms in the personalized medicine research project. BMC Genet 11:51. https:\/\/doi.org\/10.1186\/1471-2156-11-51","DOI":"10.1186\/1471-2156-11-51"},{"key":"10759_CR12","doi-asserted-by":"publisher","unstructured":"Bagby G (2018) Recent advances in understanding hematopoiesis in Fanconi Anemia, F1000Research 7:105. https:\/\/doi.org\/10.12688\/f1000research.13213.1","DOI":"10.12688\/f1000research.13213.1"},{"key":"10759_CR13","doi-asserted-by":"publisher","unstructured":"Shah R, Hurley CK, Posch PE (2006) A molecular mechanism for the differential regulation of TGF-\u03b21 expression due to the common SNP\u2013\u2009509\u00a0C-T (c.\u20131347C\u2009>\u2009T), Hum. Genet. 120(4):461\u2013469. https:\/\/doi.org\/10.1007\/s00439-006-0194-1","DOI":"10.1007\/s00439-006-0194-1"},{"key":"10759_CR14","doi-asserted-by":"publisher","unstructured":"Taketazu F et al (1992) Decreased Level of Transforming Growth Factor-\u03b2 in Blood Lymphocytes of Patients with Aplastic Anemia, Growth Factors 6(1):85\u201390. https:\/\/doi.org\/10.3109\/08977199209008874","DOI":"10.3109\/08977199209008874"},{"key":"10759_CR15","doi-asserted-by":"publisher","unstructured":"Naka K, Hirao A (2017) Regulation of Hematopoiesis and Hematological Disease by TGF-\u03b2 Family Signaling Molecules, Cold Spring Harb. Perspect. Biol. 9(9):a027987. https:\/\/doi.org\/10.1101\/cshperspect.a027987","DOI":"10.1101\/cshperspect.a027987"}],"container-title":["Molecular Biology Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11033-025-10759-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s11033-025-10759-x","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11033-025-10759-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,27]],"date-time":"2025-12-27T16:26:59Z","timestamp":1766852819000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s11033-025-10759-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,28]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,12]]}},"alternative-id":["10759"],"URL":"https:\/\/doi.org\/10.1007\/s11033-025-10759-x","relation":{},"ISSN":["0301-4851","1573-4978"],"issn-type":[{"type":"print","value":"0301-4851"},{"type":"electronic","value":"1573-4978"}],"subject":[],"published":{"date-parts":[[2025,6,28]]},"assertion":[{"value":"20 May 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 June 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 June 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study was performed in line with the principles of the Declaration of Helsinki. This study was approved by the Institutional Ethics Committee of ICMR-National Institute of Immunohematology for Research on Human subjects (NIIH\/IEC\/23-2019).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"Informed consent was obtained from all individual participants included in the study. And written informed consent from parents\/guardians was obtained for children.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"Consent to publish the data in this study was obtained from all participants.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to publish"}},{"value":"The authors declare no competing interests.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"651"}}