Expanding clinical spectrum of RRM2B mutations to include MNGIE

被引：0
|
作者：
Wong, Lee-Jun [1 ]
Shaibani, Aziz [1 ]
Shchelochkov, Oleg A. [1 ]
Zhang, Shulin [1 ]
Katsonis, Panagiotis [1 ]
Lichtarge, Olivier [1 ]
Shinawi, Marwan [1 ]
机构：
[1] Baylor Coll Med, Houston, TX 77030 USA
来源：
MITOCHONDRION | 2010年 / 10卷 / 02期
关键词：
D O I：
10.1016/j.mito.2009.12.106
中图分类号：
Q2 [细胞生物学];
学科分类号：
071009 ; 090102 ;
摘要：
114
引用
收藏
页码：232 / 232
页数：1
相关论文
共 50 条
  • [31] Expanding the Clinical Spectrum of CLCN1 Mutations
    Jerath, Nivedita
    ANNALS OF NEUROLOGY, 2024, 96 : S269 - S270
  • [32] A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy
    Acham-Roschitz, Birgit
    Plecko, Barbara
    Lindbichler, Franz
    Bittner, Reginald
    Mache, Christoph J.
    Sperl, Wolfgang
    Mayr, Johannes A.
    MOLECULAR GENETICS AND METABOLISM, 2009, 98 (03) : 300 - 304
  • [33] EXPANDING CLINICAL SPECTRUM OF GRIN2A MUTATIONS TO ATYPICAL RETT SYNDROME
    Nakamura, K.
    Kato, M.
    Ito, M.
    Kawasaki, M.
    Shinozaki, T.
    Nakashima, M.
    Matsumoto, N.
    Saitsu, H.
    EPILEPSIA, 2015, 56 : 151 - 151
  • [34] Novel RRM2B Mutation and Severe Mitochondrial DNA Depletion: Report of 2 Cases and Review of the Literature
    Kropach, Nesia
    Shkalim-Zemer, Vered
    Orenstein, Naama
    Scheuerman, Oded
    Straussberg, Rachel
    NEUROPEDIATRICS, 2017, 48 (06) : 456 - 462
  • [35] miR-942 promotes proliferation and metastasis of hepatocellular carcinoma cells by inhibiting RRM2B
    Zhang, Qifan
    Zhu, Bili
    Qian, Jianping
    Wang, Kai
    Zhou, Jie
    ONCOTARGETS AND THERAPY, 2019, 12 : 8367 - 8378
  • [36] Chromosomal Instability Triggered by Rrm2b Loss Leads to IL-6 Secretion and Plasmacytic Neoplasms
    Chang, Lufen
    Guo, Robin
    Huang, Qin
    Yen, Yun
    CELL REPORTS, 2013, 3 (05): : 1389 - 1397
  • [37] Expanding the Clinical Spectrum of RFC1 Gene Mutations
    Kulshreshtha, Dinkar
    Ganguly, Jacky
    Jog, Mandar
    JOURNAL OF MOVEMENT DISORDERS, 2022, 15 (02) : 167 - 170
  • [38] Expanding the Clinical Spectrum Associated With GLIS3 Mutations
    Dimitri, P.
    Habeb, A. M.
    Garbuz, F.
    Millward, A.
    Wallis, S.
    Moussa, K.
    Akcay, T.
    Taha, D.
    Hogue, J.
    Slavotinek, A.
    Wales, J. K. H.
    Shetty, A.
    Hawkes, D.
    Hattersley, A. T.
    Ellard, S.
    De Franco, E.
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2015, 100 (10): : E1362 - E1369
  • [39] Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations
    Tang, Sha
    Dimberg, Elliot L.
    Milone, Margherita
    Wong, Lee-Jun C.
    JOURNAL OF NEUROLOGY, 2012, 259 (05) : 862 - 868
  • [40] Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations
    Sha Tang
    Elliot L. Dimberg
    Margherita Milone
    Lee-Jun C. Wong
    Journal of Neurology, 2012, 259 : 862 - 868
12345