De-novo mutations in TAOK1 cause neurodevelopmental disorders

被引:0
|
作者
Mahlow, M. Dulovic [1 ]
Trinh, J. [1 ]
Kandaswamy, K. Kumar [2 ]
Braathen, G. Julius [3 ]
Di Donato, N. [4 ]
Werber, M. [2 ]
Krajka, V. [1 ]
Busk, O. L. [3 ]
Oprea, G. [2 ]
Hinrichs, F. [1 ]
Holla, O. L. [3 ]
Weiss, M. E. R. [2 ]
Kahlert, A. [4 ]
Kishore, S. [2 ]
Tveten, K. [3 ]
Vos, M. [1 ]
Rolfs, A. [2 ,5 ]
Lohmann, K. [1 ]
机构
[1] Inst Neurogenet, Lubeck, Germany
[2] Centogene AG, Rostock, Germany
[3] Telemark Hosp Trust, Dept Med Genet, Skien, Norway
[4] Tech Univ Dresden, Inst Clin Genet, Dresden, Germany
[5] Univ Rostock, Rostock, Germany
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
C03.6
引用
收藏
页码:1087 / 1087
页数:1
相关论文
共 50 条
  • [31] De novo variants in neurodevelopmental disorders with epilepsy
    Henrike O. Heyne
    Tarjinder Singh
    Hannah Stamberger
    Rami Abou Jamra
    Hande Caglayan
    Dana Craiu
    Peter De Jonghe
    Renzo Guerrini
    Katherine L. Helbig
    Bobby P. C. Koeleman
    Jack A. Kosmicki
    Tarja Linnankivi
    Patrick May
    Hiltrud Muhle
    Rikke S. Møller
    Bernd A. Neubauer
    Aarno Palotie
    Manuela Pendziwiat
    Pasquale Striano
    Sha Tang
    Sitao Wu
    Annapurna Poduri
    Yvonne G. Weber
    Sarah Weckhuysen
    Sanjay M. Sisodiya
    Mark J. Daly
    Ingo Helbig
    Dennis Lal
    Johannes R. Lemke
    Nature Genetics, 2018, 50 : 1048 - 1053
  • [32] De Novo Variants In Neurodevelopmental Disorders With Epilepsy
    Heyne, H.
    Singh, T.
    Stamberger, H.
    Jamra, R. A.
    Caglayan, H.
    Craiu, D.
    Jonghe, P. D.
    Guerrini, R.
    Helbig, K.
    Koeleman, B.
    Kosmicki, J.
    Linnankivi, T.
    May, P.
    Muhle, H.
    Moller, R.
    Neubauer, B.
    Palotie, A.
    Pendziwiat, M.
    Striano, P.
    Tang, S.
    Wu, S.
    Poduri, A.
    Weber, Y.
    Weckhuysen, S.
    Sisodiya, S.
    Daly, M.
    Helbig, I.
    Lal, D.
    Lemke, J.
    EPILEPSIA, 2018, 59 : S213 - S214
  • [33] De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures
    Myers, Candace T.
    Stong, Nicholas
    Mountier, Emily I.
    Helbig, Katherine L.
    Freytag, Saskia
    Sullivan, Joseph E.
    Ben Zeev, Bruria
    Nissenkorn, Andreea
    Tzadok, Michal
    Heimer, Gali
    Shinde, Deepali N.
    Rezazadeh, Arezoo
    Regan, Brigid M.
    Oliver, Karen L.
    Ernst, Michelle E.
    Lippa, Natalie C.
    Mulhern, Maureen S.
    Ren, Zhong
    Poduri, Annapurna
    Andrade, Danielle M.
    Bird, Lynne M.
    Bahlo, Melanie
    Berkovic, Samuel F.
    Lowenstein, Daniel H.
    Scheffer, Ingrid E.
    Sadleir, Lynette G.
    Goldstein, David B.
    Mefford, Heather C.
    Heinzen, Erin L.
    AMERICAN JOURNAL OF HUMAN GENETICS, 2017, 101 (04) : 516 - 524
  • [34] De novo mutations in SOD1 are a cause of ALS
    Muller, Kathrin
    Oh, Ki-Wook
    Nordin, Angelica
    Panthi, Sudhan
    Kim, Seung Hyun
    Nordin, Frida
    Freischmidt, Axel
    Ludolph, Albert C.
    Ki, Chang Seok
    Forsberg, Karin
    Weishaupt, Jochen
    Kim, Young-Eun
    Andersen, Peter Munch
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2022, 93 (02): : 201 - 206
  • [35] De novo mutations in HNRNPU result in a neurodevelopmental syndrome
    Yates, T. Michael
    Vasudevan, Pradeep C.
    Chandler, Kate E.
    Donnelly, Deirdre E.
    Stark, Zornitza
    Sadedin, Simon
    Willoughby, Josh
    Balasubramanian, Meena
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (11) : 3003 - 3012
  • [36] De novo missense variants in KDM1A cause a neurodevelopmental disorder
    Berking, Ann-Cathrine
    Pabst, Brigitte
    Kordes, Uwe R.
    Muntnich, Lucas
    Kratz, Christian
    Bohne, Jens
    Auber, Bernd
    Ripperger, Tim
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1198 - 1199
  • [37] DE-NOVO MUTATIONS OF THE RET PROTOONCOGENE IN HIRSCHSPRUNGS-DISEASE
    PELET, A
    ATTIE, T
    GOULET, O
    ENG, C
    PONDER, BAJ
    MUNNICH, A
    LYONNET, S
    LANCET, 1994, 344 (8939-4): : 1769 - 1770
  • [38] De-novo and Biallelic pathogenic variants in NARS1 cause neurodevelopmental delay due to dominant negative and partial loss of function effect
    O'Connor, E.
    Manole, A.
    Efthymiou, S.
    Mendes, M.
    Jennings, M.
    Jenkins, D.
    Lopez, M.
    Maroofian, R.
    Salpietro, V.
    Antonarakis, S.
    Vincent, J.
    Haack, T. B.
    Distelmaier, F.
    Horvath, R.
    Gleeson, J.
    Becker, H.
    Mandel, J.
    Koolen, D.
    Houlden, H.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 128 - 128
  • [39] Impact of de novo variants on epilepsy in neurodevelopmental disorders
    Eoli, Andrea
    Heyne, Henrike
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1498 - 1498
  • [40] Excess of RALGAPB de novo variants in neurodevelopmental disorders
    Shah, Abid Ali
    Zhang, Ge
    Li, Kuokuo
    Liu, Chenbin
    Kanhar, Ashafaque Ahmad
    Wang, Meng
    Quan, Yingting
    Wu, Huidan
    Shen, Lu
    Khan, Rizwan
    Chen, Guodong
    Ou, Jianjun
    Hu, Zhengmao
    Xia, Kun
    Guo, Hui
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2020, 63 (11)