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2007 1
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Page 1
Functional Study of SAMD9L in Familial Gastric Cancer.
Kaixuan X, Xiaobin Z, Jiaxuan T, Shihui L, Xinxin W, Shuwei H, Penggao D, Xiang L. Kaixuan X, et al. Turk J Gastroenterol. 2023 May;34(5):472-482. doi: 10.5152/tjg.2023.22267. Turk J Gastroenterol. 2023. PMID: 37158533 Free PMC article.
CONCLUSIONS: These results suggest that SAMD9L inhibits the proliferation of gastric cancer cells, thereby increasing the risk of gastric cancer in people with SAMD9L downregulation. Therefore, SAMD9L may represent a susceptibility gene of this …
CONCLUSIONS: These results suggest that SAMD9L inhibits the proliferation of gastric cancer cells, thereby increasing the risk …
Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes.
Sahoo SS, Pastor VB, Goodings C, Voss RK, Kozyra EJ, Szvetnik A, Noellke P, Dworzak M, Starý J, Locatelli F, Masetti R, Schmugge M, De Moerloose B, Catala A, Kállay K, Turkiewicz D, Hasle H, Buechner J, Jahnukainen K, Ussowicz M, Polychronopoulou S, Smith OP, Fabri O, Barzilai S, de Haas V, Baumann I, Schwarz-Furlan S; European Working Group of MDS in Children (EWOG-MDS); Niewisch MR, Sauer MG, Burkhardt B, Lang P, Bader P, Beier R, Müller I, Albert MH, Meisel R, Schulz A, Cario G, Panda PK, Wehrle J, Hirabayashi S, Derecka M, Durruthy-Durruthy R, Göhring G, Yoshimi-Noellke A, Ku M, Lebrecht D, Erlacher M, Flotho C, Strahm B, Niemeyer CM, Wlodarski MW. Sahoo SS, et al. Nat Med. 2021 Oct;27(10):1806-1817. doi: 10.1038/s41591-021-01511-6. Epub 2021 Oct 7. Nat Med. 2021. PMID: 34621053 Free PMC article.
Germline SAMD9 and SAMD9L mutations (SAMD9/9L(mut)) predispose to myelodysplastic syndromes (MDS) with propensity for somatic rescue. ...Furthermore, we found that 61% of SAMD9/9L(mut) patients underwent somatic genetic rescue (SGR) resulting in clonal hematopoiesis, of wh …
Germline SAMD9 and SAMD9L mutations (SAMD9/9L(mut)) predispose to myelodysplastic syndromes (MDS) with propensity for somatic rescue. …
Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes.
Sahoo SS, Kozyra EJ, Wlodarski MW. Sahoo SS, et al. Best Pract Res Clin Haematol. 2020 Sep;33(3):101197. doi: 10.1016/j.beha.2020.101197. Epub 2020 Jul 29. Best Pract Res Clin Haematol. 2020. PMID: 33038986 Free PMC article. Review.
The revised 2016 WHO classification introduced a novel category of "myeloid neoplasms with germline predisposition" with GATA2, CEBPA, DDX41, RUNX1, ANKRD26 and ETV6 genes expanding the spectrum of hereditary myeloid neoplasms (MN). ...The main focus lies in delinea …
The revised 2016 WHO classification introduced a novel category of "myeloid neoplasms with germline predisposition" with GATA2, CEBPA …
Mutant Samd9l expression impairs hematopoiesis and induces bone marrow failure in mice.
Abdelhamed S, Thomas ME 3rd, Westover T, Umeda M, Xiong E, Rolle C, Walsh MP, Wu H, Schwartz JR, Valentine V, Valentine M, Pounds S, Ma J, Janke LJ, Klco JM. Abdelhamed S, et al. J Clin Invest. 2022 Nov 1;132(21):e158869. doi: 10.1172/JCI158869. J Clin Invest. 2022. PMID: 36074606 Free PMC article.
SAMD9 and SAMD9L germline mutations have recently emerged as a new class of predispositions to pediatric myeloid neoplasms. ...Further, we observed nonrandom genetic deletion of the mutant Samd9l locus on mouse chromosome 6, mimicking chromosome 7 deletions o …
SAMD9 and SAMD9L germline mutations have recently emerged as a new class of predispositions to pediatric myeloid neoplasms. .. …
Germline loss-of-function SAMD9 and SAMD9L alterations in adult myelodysplastic syndromes.
Nagata Y, Narumi S, Guan Y, Przychodzen BP, Hirsch CM, Makishima H, Shima H, Aly M, Pastor V, Kuzmanovic T, Radivoyevitch T, Adema V, Awada H, Yoshida K, Li S, Sole F, Hanna R, Jha BK, LaFramboise T, Ogawa S, Sekeres MA, Wlodarski MW, Cammenga J, Maciejewski JP. Nagata Y, et al. Blood. 2018 Nov 22;132(21):2309-2313. doi: 10.1182/blood-2017-05-787390. Epub 2018 Oct 15. Blood. 2018. PMID: 30322869 Free PMC article. No abstract available.
The International Consensus Classification (ICC) of hematologic neoplasms with germline predisposition, pediatric myelodysplastic syndrome, and juvenile myelomonocytic leukemia.
Rudelius M, Weinberg OK, Niemeyer CM, Shimamura A, Calvo KR. Rudelius M, et al. Virchows Arch. 2023 Jan;482(1):113-130. doi: 10.1007/s00428-022-03447-9. Epub 2022 Nov 29. Virchows Arch. 2023. PMID: 36445482 Review.
Genes are organized into three major categories including (1) those that are not associated with constitutional disorder and include CEBPA, DDX41, and TP53; (2) those associated with thrombocytopenia or platelet dysfunction including RUNX1, ANKRD26, and ETV6; and (3) those associ …
Genes are organized into three major categories including (1) those that are not associated with constitutional disorder and include CEBPA, …
SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies.
Davidsson J, Puschmann A, Tedgård U, Bryder D, Nilsson L, Cammenga J. Davidsson J, et al. Leukemia. 2018 May;32(5):1106-1115. doi: 10.1038/s41375-018-0074-4. Epub 2018 Feb 25. Leukemia. 2018. PMID: 29535429 Free PMC article. Review.
Germline gain-of-function mutations increase SAMD9 or SAMD9L's normal antiproliferative effect. This causes pancytopenia and generally restricted growth and/or specific organ hypoplasia in non-hematopoietic tissues. In blood cells, additional somatic aberrations that rever …
Germline gain-of-function mutations increase SAMD9 or SAMD9L's normal antiproliferative effect. This causes pancytopenia and generall …
[Association between SAMD9/SAMD9L and hematological malignancies].
Narumi S, Hasegawa T. Narumi S, et al. Rinsho Ketsueki. 2018;59(11):2475-2480. doi: 10.11406/rinketsu.59.2475. Rinsho Ketsueki. 2018. PMID: 30531146 Japanese.
In this article, knowledge about SAMD9/SAMD9L molecules, which has been a topic of interest in the field of hematological malignancies, was reviewed. ...At present, the molecular functions of SAMD9/SAMD9L are not known, and further studies must be conducted to compl …
In this article, knowledge about SAMD9/SAMD9L molecules, which has been a topic of interest in the field of hematological malignancie …
Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndrome.
Erlacher M, Andresen F, Sukova M, Stary J, De Moerloose B, Bosch JVWT, Dworzak M, Seidel MG, Polychronopoulou S, Beier R, Kratz CP, Nathrath M, Frühwald MC, Göhring G, Bergmann AK, Mayerhofer C, Lebrecht D, Ramamoorthy S, Yoshimi A, Strahm B, Wlodarski MW, Niemeyer CM. Erlacher M, et al. Haematologica. 2024 Feb 1;109(2):422-430. doi: 10.3324/haematol.2023.283591. Haematologica. 2024. PMID: 37584291 Free PMC article.
However, in young children, spontaneous loss of monosomy 7 with concomitant hematologic recovery has been described, especially in the presence of germline mutations in SAMD9 and SAMD9L genes. Here, we report on our experience of close surveillance instead of upfront hemat …
However, in young children, spontaneous loss of monosomy 7 with concomitant hematologic recovery has been described, especially in the prese …
Of gains and losses: SAMD9/SAMD9L and monosomy 7 in myelodysplastic syndrome.
Cammenga J. Cammenga J. Exp Hematol. 2024 Jun;134:104217. doi: 10.1016/j.exphem.2024.104217. Epub 2024 Apr 20. Exp Hematol. 2024. PMID: 38649131 Free article. Review.
SAMD9 and SAMD9L are two interferon-regulated genes located adjacent to each other on chromosome 7q21.2. ...The myeloid neoplasms associated with GL GOF SAMD9/SAMD9L mutations have been included in the World Health Organization (WHO) 2022 classification. ...
SAMD9 and SAMD9L are two interferon-regulated genes located adjacent to each other on chromosome 7q21.2. ...The myeloid neoplasms …
57 results