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    SAMD12 sterile alpha motif domain containing 12 [ Homo sapiens (human) ]

    Gene ID: 401474, updated on 17-Sep-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Liver fibrosis-derived exosomal miR-106a-5p facilitates the malignancy by targeting SAMD12 and CADM2 in hepatocellular carcinoma.

    Liver fibrosis-derived exosomal miR-106a-5p facilitates the malignancy by targeting SAMD12 and CADM2 in hepatocellular carcinoma.
    Hu J, Xie C, Xu S, Pu Q, Liu H, Yang L, Wang W, Mao L, Li Z, Chen W., Free PMC Article

    06/12/2023
    Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1.

    Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1.
    Yeetong P, Chunharas C, Pongpanich M, Bennett MF, Srichomthong C, Pasutharnchat N, Suphapeetiporn K, Bahlo M, Shotelersuk V., Free PMC Article

    01/22/2022
    Clinical and genomic analysis of a large Chinese family with familial cortical myoclonic tremor with epilepsy and SAMD12 intronic repeat expansion.

    Clinical and genomic analysis of a large Chinese family with familial cortical myoclonic tremor with epilepsy and SAMD12 intronic repeat expansion.
    Zhou Y, Sood R, Wang Q, Carrington B, Park M, Young AC, Birnbaum D, Liu Z, Ashizawa T, Mullikin JC, Koubeissi MZ, Liu P., Free PMC Article

    10/23/2021
    DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A.

    DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A.
    Terasaki A, Nakamura M, Urata Y, Hiwatashi H, Yokoyama I, Yasuda T, Onuma T, Wada K, Kaneko S, Kan R, Niwa SI, Hashimoto O, Komure O, Goto YI, Yamagishi Y, Nakano M, Furusawa Y, Sano A.

    08/7/2021
    Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families.

    Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families.
    Bennett MF, Oliver KL, Regan BM, Bellows ST, Schneider AL, Rafehi H, Sikta N, Crompton DE, Coleman M, Hildebrand MS, Corbett MA, Kroes T, Gecz J, Scheffer IE, Berkovic SF, Bahlo M., Free PMC Article

    05/29/2021
    LncRNA SAMD12-AS1 down-regulates P53 to promote malignant progression of glioma.

    LncRNA SAMD12-AS1 down-regulates P53 to promote malignant progression of glioma.
    Yu BX, Zou L, Li S, Du YL.

    12/19/2020
    LncRNA SAMD12-AS1 promotes cell proliferation and inhibits apoptosis by interacting with NPM1.

    LncRNA SAMD12-AS1 promotes cell proliferation and inhibits apoptosis by interacting with NPM1.
    Liu Q, Liu N, Shangguan Q, Zhang F, Chai W, Tong X, Zhao X, Li Z, Qi D, Ye X., Free PMC Article

    11/21/2020
    identified a novel expanded intronic (TTTGA)n insertion at the same site as the previously reported (TTTCA)n insertion in SAMD12

    Intronic (TTTGA)(n) insertion in SAMD12 also causes familial cortical myoclonic tremor with epilepsy.
    Cen Z, Chen Y, Yang D, Zhu Q, Chen S, Chen X, Wang B, Xie F, Ouyang Z, Jiang Z, Fu A, Hu B, Yin H, Qiu X, Yu F, Du X, Hao W, Liu Y, Wang H, Wang L, Yu X, Xiao Y, Liu C, Xiao J, Zhou Y, Yang W, Zhang B, Luo W.

    06/13/2020
    We identified the pentanucleotide repeat expansion in SAMD12 as the causative mutation in Chinese FCMTE pedigrees.

    Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy.
    Zeng S, Zhang MY, Wang XJ, Hu ZM, Li JC, Li N, Wang JL, Liang F, Yang Q, Liu Q, Fang L, Hao JW, Shi FD, Ding XB, Teng JF, Yin XM, Jiang H, Liao WP, Liu JY, Wang K, Xia K, Tang BS.

    05/23/2020
    Abnormal expansions of TTTCA and TTTTA repeats in intron 4 of SAMD12 cause benign adult familial myoclonic epilepsy. Single-molecule, real-time sequencing of BAC clones and nanopore sequencing of genomic DNA identified two repeat configurations in SAMD12.

    Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.
    Ishiura H, Doi K, Mitsui J, Yoshimura J, Matsukawa MK, Fujiyama A, Toyoshima Y, Kakita A, Takahashi H, Suzuki Y, Sugano S, Qu W, Ichikawa K, Yurino H, Higasa K, Shibata S, Mitsue A, Tanaka M, Ichikawa Y, Takahashi Y, Date H, Matsukawa T, Kanda J, Nakamoto FK, Higashihara M, Abe K, Koike R, Sasagawa M, Kuroha Y, Hasegawa N, Kanesawa N, Kondo T, Hitomi T, Tada M, Takano H, Saito Y, Sanpei K, Onodera O, Nishizawa M, Nakamura M, Yasuda T, Sakiyama Y, Otsuka M, Ueki A, Kaida KI, Shimizu J, Hanajima R, Hayashi T, Terao Y, Inomata-Terada S, Hamada M, Shirota Y, Kubota A, Ugawa Y, Koh K, Takiyama Y, Ohsawa-Yoshida N, Ishiura S, Yamasaki R, Tamaoka A, Akiyama H, Otsuki T, Sano A, Ikeda A, Goto J, Morishita S, Tsuji S.

    05/11/2019
    Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

    Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article

    06/30/2010
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