De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder
暂无分享,去创建一个
R. Pfundt | V. Shashi | T. Kleefstra | F. Lecoquierre | K. Weiss | M. Weiss | T. Hershkovitz | Caroline Dias | T. Ben-Omran | N. Stong | S. Maitz | C. Mignot | L. Pais | B. Keren | E. Boon | P. Zwijnenburg | J. Mayr | M. Iascone | D. Kotzot | J. M. van Hagen | L. Rodan | A. Guerrot | A. Isapof | A. Charollais | R. Feichtinger | C. Walsh | J. Sullivan | Laila Mahmoud | Janneke Shuurs-Hoeijmakers
[1] Richard A Marini,et al. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders , 2020, Nature Communications.
[2] Emily E. Burke,et al. A myelin-related transcriptomic profile is shared by Pitt–Hopkins syndrome models and human autism spectrum disorder , 2020, Nature Neuroscience.
[3] Emily E. Burke,et al. A myelin-related transcriptomic profile is shared between Pitt Hopkins syndrome models and human autism spectrum disorder , 2019, Nature Neuroscience.
[4] Matthew W. Mosconi,et al. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism , 2019, Cell.
[5] Avi Ma’ayan,et al. Habenular Tcf7l2 links nicotine addiction to diabetes , 2019, Nature.
[6] M. Gerstein,et al. A Single-Cell Transcriptomic Atlas of Human Neocortical Development during Mid-gestation , 2019, Neuron.
[7] Bradley P. Coe,et al. Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model , 2018, Molecular Autism.
[8] Jinyu Wu,et al. Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development , 2018, Front. Genet..
[9] Z. Kozmík,et al. Tcf7L2 is essential for neurogenesis in the developing mouse neocortex , 2018, Neural Development.
[10] M. Daly,et al. Regional missense constraint improves variant deleteriousness prediction , 2017, bioRxiv.
[11] H. Clevers,et al. Tcf7l2 plays crucial roles in forebrain development through regulation of thalamic and habenular neuron identity and connectivity. , 2017, Developmental biology.
[12] J. Kuźnicki,et al. TCF7L2 mediates the cellular and behavioral response to chronic lithium treatment in animal models , 2017, Neuropharmacology.
[13] Deciphering Developmental Disorders Study,et al. Prevalence and architecture of de novo mutations in developmental disorders , 2017, Nature.
[14] L. Vissers,et al. Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability , 2016, Nature Neuroscience.
[15] S. Goldman,et al. Dual regulatory switch through interactions of Tcf7l2/Tcf4 with stage-specific partners propels oligodendroglial maturation , 2016, Nature Communications.
[16] D. Valle,et al. GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene , 2015, Human mutation.
[17] Orion J. Buske,et al. The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery , 2015, Human mutation.
[18] Boris Yamrom,et al. The contribution of de novo coding mutations to autism spectrum disorder , 2014, Nature.
[19] Christopher S. Poultney,et al. Synaptic, transcriptional, and chromatin genes disrupted in autism , 2014, Nature.
[20] J. Kuźnicki,et al. Postnatal isoform switch and protein localization of LEF1 and TCF7L2 transcription factors in cortical, thalamic, and mesencephalic regions of the adult mouse brain , 2012, Brain Structure and Function.
[21] Doron Lancet,et al. Association of the Type 2 Diabetes Mellitus Susceptibility Gene, TCF7L2, with Schizophrenia in an Arab-Israeli Family Sample , 2012, PloS one.
[22] A. Hecht,et al. Alternative splicing of Tcf7l2 transcripts generates protein variants with differential promoter-binding and transcriptional activation properties at Wnt/β-catenin targets , 2009, Nucleic acids research.
[23] Laura J. Scott,et al. Tissue-specific alternative splicing of TCF7L2 , 2009, Human molecular genetics.
[24] Hans Clevers,et al. HDAC1 and HDAC2 Regulate Oligodendrocyte Differentiation By Disrupting β-Catenin-TCF Interaction , 2009, Nature Neuroscience.
[25] D. Altshuler,et al. Tissue-specific alternative splicing of TCF 7 L 2 , 2009 .
[26] J. Pankow,et al. Variation in TCF7L2 and Increased Risk of Colon Cancer , 2008, Diabetes Care.
[27] Hans Clevers,et al. Wnt/β-Catenin Signaling in Development and Disease , 2006, Cell.
[28] H. Stefánsson,et al. Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes , 2006, Nature Genetics.
[29] H Clevers,et al. A gene family of HMG-box transcription factors with homology to TCF-1. , 1992, Nucleic acids research.