Toward a better understanding of PHTS heterogeneity: commentary on 'Cell-type specific deficits in PTEN-mutant cortical organoids converge on abnormal circuit activity'.
作者信息
Tan Zhibing, Luikart Bryan W
机构信息
Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA.
Department of Molecular Medicine, Cleveland Clinic Lerner College of Medicine, Case Western Reserve University, Cleveland, OH 44195, USA.
出版信息
Hum Mol Genet. 2023 Sep 5;32(18):2771-2772. doi: 10.1093/hmg/ddad127.
Abstract
摘要
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本文引用的文献
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Autism-specific PTEN p.Ile135Leu variant and an autism genetic background combine to dysregulate cortical neurogenesis.自闭症特异性 PTEN p.Ile135Leu 变异体与自闭症遗传背景相结合，导致皮质神经发生失调。
Am J Hum Genet. 2023 May 4;110(5):826-845. doi: 10.1016/j.ajhg.2023.03.015. Epub 2023 Apr 24.
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Autism genes converge on asynchronous development of shared neuron classes.自闭症基因集中于共享神经元类别的异步发育。
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The Clinical Spectrum of Mutations.突变的临床谱。
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Hyperactivity of newborn Pten knock-out neurons results from increased excitatory synaptic drive.新生 Pten 敲除神经元的过度活跃源于兴奋性突触驱动增加。
J Neurosci. 2015 Jan 21;35(3):943-59. doi: 10.1523/JNEUROSCI.3144-14.2015.
5
Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model.分析种系 PTEN 突变患者的大头畸形发生率和严重程度，以及 Pten 敲入鼠模型的脑重。
Eur J Hum Genet. 2011 Jul;19(7):763-8. doi: 10.1038/ejhg.2011.20. Epub 2011 Feb 23.
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Reliable activation of immature neurons in the adult hippocampus.成年海马体中未成熟神经元的可靠激活。
PLoS One. 2009;4(4):e5320. doi: 10.1371/journal.pone.0005320. Epub 2009 Apr 28.
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Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.对PTEN基因种系突变认识的增加：另外两名患有自闭症和巨头症的患者。
Am J Med Genet A. 2007 Mar 15;143A(6):589-93. doi: 10.1002/ajmg.a.31619.
8
PTEN mutation in a family with Cowden syndrome and autism.考登综合征和自闭症家族中的PTEN突变
Am J Med Genet. 2001 Aug 8;105(6):521-4. doi: 10.1002/ajmg.1477.
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