A recurrent, de novo nonsense mutation in the GRIN2B gene, comparison of the clinical phenotypes

被引：0
|
作者：
Hoffer, M. J. V. [1 ]
Nibbeling, E. A. R. [1 ]
Koopmann, T. T. [1 ]
Bollen, S. [1 ]
Laurense-Bik, M. E. Y. [1 ]
van Minderhout, I. J. H. [1 ]
Knijnenburg, J. [1 ]
Lamziera, N. [1 ]
Verschuren, M. [1 ]
Fokkema, I. F. A. [2 ]
van Haeringen, A. [1 ]
Potjer, T. P. [1 ]
Ruivenkamp, C. A. L. [1 ]
den Hollander, N. S. [1 ]
机构：
[1] Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands
[2] Leiden Univ, Med Ctr, Dept Human Genet, Leiden, Netherlands
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2018年 / 26卷
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：
P08.22B
引用
收藏
页码：336 / 336
页数：1
相关论文
共 50 条
  • [1] Functional Changes of a De Novo GRIN2B Missense Mutation in a Patient with Developmental Delay
    Yuan, Hongjie
    Swanger, Sharon A.
    Wells, Gordon
    Hansen, Kasper B.
    Adams, David R.
    Boerkoel, Cornelius F.
    Toro, Camilo
    Gahl, William A.
    Synder, James P.
    Traynelis, Stephen F.
    [J]. ANNALS OF NEUROLOGY, 2014, 76 : S74 - S74
  • [2] GRIN2A and GRIN2B and Their Related Phenotypes
    Sapuppo, Annamaria
    Portale, Laura
    Massimino, Carmela R.
    Presti, Santiago
    Tardino, Lucia
    Marino, Simona
    Polizzi, Agata
    Falsaperla, Raffaele
    Pratico, Andrea D.
    [J]. JOURNAL OF PEDIATRIC NEUROLOGY, 2023, 21 (03) : 212 - 223
  • [3] Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene
    Inga Freunscht
    Bernt Popp
    Rainer Blank
    Sabine Endele
    Ute Moog
    Holger Petri
    Eva-Christina Prott
    Andre Reis
    Jochen Rübo
    Bernhard Zabel
    Martin Zenker
    Johannes Hebebrand
    Dagmar Wieczorek
    [J]. Behavioral and Brain Functions, 9
  • [4] Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene
    Freunscht, Inga
    Popp, Bernt
    Blank, Rainer
    Endele, Sabine
    Moog, Ute
    Petri, Holger
    Prott, Eva-Christina
    Reis, Andre
    Ruebo, Jochen
    Zabel, Bernhard
    Zenker, Martin
    Hebebrand, Johannes
    Wieczorek, Dagmar
    [J]. BEHAVIORAL AND BRAIN FUNCTIONS, 2013, 9
  • [5] Mutation analysis of the NMDAR2B (GRIN2B) gene in schizophrenia
    Ohtsuki, T
    Sakurai, K
    Dou, H
    Toru, M
    Yamakawa-Kobayashi, K
    Arinami, T
    [J]. MOLECULAR PSYCHIATRY, 2001, 6 (02) : 211 - 216
  • [6] Mutation analysis of the NMDAR2B (GRIN2B) gene in schizophrenia
    T Ohtsuki
    K Sakurai
    H Dou
    M Toru
    K Yamakawa-Kobayashi
    T Arinami
    [J]. Molecular Psychiatry, 2001, 6 : 211 - 216
  • [7] NOVEL PHENOTYPIC- AND FUNCTIONAL ASPECTS OF HETEROZYGOUS DE NOVO MUTATIONS IN GRIN2B
    Platzer, K.
    Yuan, H.
    Traynelis, S.
    Lemke, J.
    [J]. EPILEPSIA, 2016, 57 : 120 - 121
  • [8] Absence of de novo point mutations in exons of GRIN2B in a large schizophrenia trio sample
    Williams, Hywel J.
    Georgieva, Lyudmila
    Dwyer, Sarah
    Kirov, George
    Owen, Michael J.
    O'Donovan, Michael C.
    [J]. SCHIZOPHRENIA RESEARCH, 2012, 141 (2-3) : 274 - 276
  • [9] Childhood adversity increases methylation in the GRIN2B gene
    Engdahl, Elin
    Alavian-Ghavanini, Ali
    Forsell, Yvonne
    Lavebratt, Catharina
    Ruegg, Joelle
    [J]. JOURNAL OF PSYCHIATRIC RESEARCH, 2021, 132 : 38 - 43
  • [10] GRIN2B Gene Polymorphism in Chronic Ketamine Users
    Fan, Ni
    An, Lina
    Zhang, Minling
    He, Hongbo
    Zhou, Yanling
    Ou, Yufen
    [J]. AMERICAN JOURNAL ON ADDICTIONS, 2020, 29 (02): : 105 - 110
12345