| PARP14 correlates with GBM proliferation and poor prognosis by elevating expression of SAMD/SAMD9L. | PARP14 correlates with GBM proliferation and poor prognosis by elevating expression of SAMD/SAMD9L.
Zhang L, Chen W, Shi Z, Shang Z. | 03/26/2024 |
| [Pancytopenia in children caused by SAMD9/9L mutation: 5 cases report and literature review]. | [Pancytopenia in children caused by SAMD9/9L mutation: 5 cases report and literature review].
Shang QW, Xue L, Zhang LP, Lu AD., Free PMC Article | 06/29/2023 |
| Functional Study of SAMD9L in Familial Gastric Cancer. | Functional Study of SAMD9L in Familial Gastric Cancer.
Kaixuan X, Xiaobin Z, Jiaxuan T, Shihui L, Xinxin W, Shuwei H, Penggao D, Xiang L., Free PMC Article | 05/13/2023 |
| Viral host range factors antagonize pathogenic SAMD9 and SAMD9L variants. | Viral host range factors antagonize pathogenic SAMD9 and SAMD9L variants.
Gahr S, Perinetti Casoni G, Falk-Paulsen M, Maschkowitz G, Bryceson YT, Voss M. | 03/31/2023 |
| Clonal Elimination of the Pathogenic Allele as Diagnostic Pitfall in SAMD9L-Associated Neuropathy. | Clonal Elimination of the Pathogenic Allele as Diagnostic Pitfall in SAMD9L-Associated Neuropathy.
Eggermann K, Meyer R, Begemann M, Dey D, Bültmann E, Kurth I, Korenke GC, Knopp C., Free PMC Article | 03/3/2023 |
| Up-regulated SAMD9L modulated by TLR2 and HIF-1alpha as a promising biomarker in tuberculosis. | Up-regulated SAMD9L modulated by TLR2 and HIF-1α as a promising biomarker in tuberculosis.
Zhang XJ, Xu HS, Li CH, Fu YR, Yi ZJ., Free PMC Article | 05/21/2022 |
| SAMD9L autoinflammatory or ataxia pancytopenia disease mutations activate cell-autonomous translational repression. | SAMD9L autoinflammatory or ataxia pancytopenia disease mutations activate cell-autonomous translational repression.
Russell AJ, Gray PE, Ziegler JB, Kim YJ, Smith S, Sewell WA, Goodnow CC., Free PMC Article | 02/12/2022 |
| Pediatric MDS and bone marrow failure-associated germline mutations in SAMD9 and SAMD9L impair multiple pathways in primary hematopoietic cells. | Pediatric MDS and bone marrow failure-associated germline mutations in SAMD9 and SAMD9L impair multiple pathways in primary hematopoietic cells.
Thomas ME 3rd, Abdelhamed S, Hiltenbrand R, Schwartz JR, Sakurada SM, Walsh M, Song G, Ma J, Pruett-Miller SM, Klco JM., Free PMC Article | 01/1/2022 |
| Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes. | Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes.
Sahoo SS, Kozyra EJ, Wlodarski MW., Free PMC Article | 12/25/2021 |
| Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes. | 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., Free PMC Article | 11/13/2021 |
| Multiorgan failure with abnormal receptor metabolism in mice mimicking Samd9/9L syndromes. | Multiorgan failure with abnormal receptor metabolism in mice mimicking Samd9/9L syndromes.
Nagamachi A, Kanai A, Nakamura M, Okuda H, Yokoyama A, Shinriki S, Matsui H, Inaba T., Free PMC Article | 09/25/2021 |
| Prevalence of germline GATA2 and SAMD9/9L variants in paediatric haematological disorders with monosomy 7. | Prevalence of germline GATA2 and SAMD9/9L variants in paediatric haematological disorders with monosomy 7.
Yoshida M, Tanase-Nakao K, Shima H, Shirai R, Yoshida K, Osumi T, Deguchi T, Mori M, Arakawa Y, Takagi M, Miyamura T, Sakaguchi K, Toyoda H, Ishida H, Sakata N, Imamura T, Kawahara Y, Morimoto A, Koike T, Yagasaki H, Ito S, Tomizawa D, Kiyokawa N, Narumi S, Kato M. | 03/28/2021 |
| Identification of SAMD9L as a susceptibility locus for intravenous immunoglobulin resistance in Kawasaki disease by genome-wide association analysis. | Identification of SAMD9L as a susceptibility locus for intravenous immunoglobulin resistance in Kawasaki disease by genome-wide association analysis.
Kim JJ, Yun SW, Yu JJ, Yoon KL, Lee KY, Kil HR, Kim GB, Han MK, Song MS, Lee HD, Ha KS, Sohn S, Ebata R, Hamada H, Suzuki H, Ito K, Onouchi Y, Hong YM, Jang GY, Lee JK, and the Korean Kawasaki Disease Genetics Consortium. | 01/9/2021 |
| Germline SAMD9L mutation is associated with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia. | A novel germline SAMD9L mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia.
Cheah JJC, Brown AL, Schreiber AW, Feng J, Babic M, Moore S, Young CC, Fine M, Phillips K, Guandalini M, Wilson P, Poplawski N, Hahn CN, Scott HS., Free PMC Article | 06/6/2020 |
| SAMD9 and SAMD9L germline loss-of-function variants exist in 3% of adult myelodysplastic syndromes and are located more in the N terminus relative to pediatric germline loss-of-function variants, which exist more in the C terminus. | 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., Free PMC Article | 08/3/2019 |
| REVIEW: expert-based recommendations regarding diagnosis, follow-up, and treatment of mutation carriers. | SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies.
Davidsson J, Puschmann A, Tedgård U, Bryder D, Nilsson L, Cammenga J., Free PMC Article | 03/16/2019 |
| Constitutional mutations (p.H880Q, p.R986H, p.R986C and p.V1512M) in the SAMD9L gene on 7q21 define a new subtype of familial myelodysplastic syndrome and provide an explanation for the phenomenon of transient monosomy 7. | Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.
Pastor VB, Sahoo SS, Boklan J, Schwabe GC, Saribeyoglu E, Strahm B, Lebrecht D, Voss M, Bryceson YT, Erlacher M, Ehninger G, Niewisch M, Schlegelberger B, Baumann I, Achermann JC, Shimamura A, Hochrein J, Tedgård U, Nilsson L, Hasle H, Boerries M, Busch H, Niemeyer CM, Wlodarski MW., Free PMC Article | 03/9/2019 |
| In humans, both SAMD9 and SAMD9L are poxvirus restriction factors, although the latter requires interferon induction in many cell types. | A paralogous pair of mammalian host restriction factors form a critical host barrier against poxvirus infection.
Meng X, Zhang F, Yan B, Si C, Honda H, Nagamachi A, Sun LZ, Xiang Y., Free PMC Article | 07/7/2018 |
| Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms in two unrelated Caucasian families. | Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.
Tesi B, Davidsson J, Voss M, Rahikkala E, Holmes TD, Chiang SCC, Komulainen-Ebrahim J, Gorcenco S, Rundberg Nilsson A, Ripperger T, Kokkonen H, Bryder D, Fioretos T, Henter JI, Möttönen M, Niinimäki R, Nilsson L, Pronk CJ, Puschmann A, Qian H, Uusimaa J, Moilanen J, Tedgård U, Cammenga J, Bryceson YT., Free PMC Article | 08/19/2017 |
| Missense Mutations in SAMD9L gene is Associated with Ataxia-Pancytopenia Syndrome. | Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.
Chen DH, Below JE, Shimamura A, Keel SB, Matsushita M, Wolff J, Sul Y, Bonkowski E, Castella M, Taniguchi T, Nickerson D, Papayannopoulou T, Bird TD, Raskind WH., Free PMC Article | 05/13/2017 |
| The findings highlight a novel tumor-suppressive role of SAMD9L inactivation by somatic mutation and decreased expression in human HBV-related HCC | SAMD9L inactivation promotes cell proliferation via facilitating G1-S transition in hepatitis B virus-associated hepatocellular carcinoma.
Wang Q, Zhai YY, Dai JH, Li KY, Deng Q, Han ZG., Free PMC Article | 04/4/2015 |