Identification of a novel variant in MECOM gene as cause of isolated bone marrow failure

被引:0
|
作者
Ammeti, Daniele [1 ]
Bresolin, Silvia [2 ]
Gabelli, Maria [2 ]
Zanchetta, Melania Eva [1 ]
Tretti-Parenzan, Caterina [2 ]
Bottega, Roberta [1 ]
Capaci, Valeria [1 ]
Biffi, Alessandra [2 ]
Savoia, Anna [3 ]
Marzollo, Antonio [2 ]
Faleschini, Michela [1 ]
机构
[1] IRCCS Burlo Garofolo, Inst Maternal & Child Hlth, Trieste, Italy
[2] Padua Univ & Hosp, Oncol & Stem Cell Transplant Div, Women & Child Hlth Dept, Paediat Haematol, Padua, Italy
[3] Univ Verona, Verona, Italy
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
P08.024.D
引用
收藏
页码:449 / 449
页数:1
相关论文
共 50 条
  • [21] Perinatal-lethal nonimmune fetal hydrops attributed to MECOM-associated bone marrow failure
    Dash, Camille A.
    Madden, Jill A.
    Cummings, Christy
    Rose, Melissa
    Wilson, Sheria D.
    Mori, Mari
    Agrawal, Pankaj B.
    Chaudhari, Bimal P.
    Wojcik, Monica H.
    COLD SPRING HARBOR MOLECULAR CASE STUDIES, 2023, 9 (03):
  • [22] A novel MECOM gene variant causes severe thrombocytopenia in a neonate: a case report and review of the literature
    Jiaxin Li
    Ting Peng
    Guoqiang Cheng
    Lin Yang
    Jianguo Zhou
    Rong Zhang
    Peng Zhang
    Journal of Medical Case Reports, 19 (1)
  • [23] Identification of a novel gene expressed in human bone marrow stromal cells.
    Ho, N
    Jia, L
    King, L
    Driscoll, C
    Gutter, E
    Anderson, M
    Francomano, C
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A187 - A187
  • [24] CHROMOSOME ANOMALIES AS CAUSE OF CONGENITAL BONE MARROW FAILURE SYNDROMES
    Valli, R.
    De Paoli, E.
    Montalbano, G.
    Frattini, A.
    Vinti, L.
    Pasquali, F.
    Locatelli, F.
    Maserati, E.
    HAEMATOLOGICA, 2015, 100 : 10 - 10
  • [25] A NOVEL ISOLATED SUBPOPULATION OF BONE MARROW STEM CELL
    Cao, Liang
    Li, Zhen
    Mao, Yin Yu
    Shen, Xiao Tao
    Zheng, Xin
    Yao, Yao
    Wang, Jiang
    Zhang, Lin Lin
    Cai, Dong Qing
    CELL BIOLOGY INTERNATIONAL, 2008, 32 (03) : S21 - S22
  • [26] Cytokine gene polymorphisms in acquired bone marrow failure
    Gidvani, Vinod
    Ramkissoon, Shakti
    Sloand, Elaine M.
    Young, Neal S.
    AMERICAN JOURNAL OF HEMATOLOGY, 2007, 82 (08) : 721 - 724
  • [27] Novel Gene Biomarkers Specific to Human Mesenchymal Stem Cells Isolated from Bone Marrow
    Muntion, Sandra
    Sanchez-Luis, Elena
    Diez-Campelo, Maria
    Blanco, Juan F.
    Sanchez-Guijo, Fermin
    de las Rivas, Javier
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2024, 25 (22)
  • [28] Identification of a novel SDCCAG8 gene variant in a family with retinitis pigmentosa and kidney failure
    Bakall, Benjamin
    Biswas, Pooja
    Matsui, Hiroko
    Suk, John
    Telenti, Amalio
    Frazer, Kelly A.
    Ayyagari, Radha
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2017, 58 (08)
  • [29] Identification of a novel HLA-A*02 variant, HLA-A*02:621, in a Taiwanese bone marrow donor
    Yang, K. L.
    Chen, S. -P.
    Lin, P. Y.
    HLA, 2016, 88 (04) : 194 - U74
  • [30] Identification of the novel HLA-B*50:18 allele variant in an Italian unrelated bone marrow donor
    Azzarone, R.
    Canossi, A.
    Cervelli, C.
    Scimitarra, M.
    Papola, F.
    TISSUE ANTIGENS, 2013, 81 (06): : 466 - 468