Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

[1]  C. Garrido,et al.  Neutralization of HSF1 in cells from PIK3CA-related overgrowth spectrum patients blocks abnormal proliferation. , 2020, Biochemical and biophysical research communications.

[2]  W. Frankel,et al.  Arfgef1 haploinsufficiency in mice alters neuronal endosome composition and decreases membrane surface postsynaptic GABAA receptors , 2019, Neurobiology of Disease.

[3]  Ryan L. Collins,et al.  The mutational constraint spectrum quantified from variation in 141,456 humans , 2020, Nature.

[4]  K. Yokochi,et al.  Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy , 2019, Nature Communications.

[5]  Simon C. Potter,et al.  The EMBL-EBI search and sequence analysis tools APIs in 2019 , 2019, Nucleic Acids Res..

[6]  G. Vriend,et al.  MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains , 2019, bioRxiv.

[7]  Gregory M. Cooper,et al.  CADD: predicting the deleteriousness of variants throughout the human genome , 2018, Nucleic Acids Res..

[8]  S. Muro.  Alterations in Cellular Processes Involving Vesicular Trafficking and Implications in Drug Delivery , 2018, Biomimetics.

[9]  S. Newhouse,et al.  Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses , 2018, Journal of Medical Genetics.

[10]  Rachel Thompson,et al.  RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases , 2018, European Journal of Human Genetics.

[11]  Shao‐Chen Sun,et al.  Vesicular transport protein Arf6 modulates cytoskeleton dynamics for polar body extrusion in mouse oocyte meiosis. , 2018, Biochimica et biophysica acta. Molecular cell research.

[12]  Dong Zhou,et al.  Sporadic periventricular nodular heterotopia: Classification, phenotype and correlation with Filamin A mutations , 2017, Epilepsy Research.

[13]  A. Harada,et al.  BIG1 is required for the survival of deep layer neurons, neuronal polarity, and the formation of axonal tracts between the thalamus and neocortex in developing brain , 2017, PloS one.

[14]  Michael R. Johnson,et al.  De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. , 2014, American journal of human genetics.

[15]  T. Frebourg,et al.  Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools , 2016, PLoS genetics.

[16]  D. Valle,et al.  GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene , 2015, Human mutation.

[17]  G. von Heijne,et al.  Tissue-based map of the human proteome , 2015, Science.

[18]  The Uniprot Consortium,et al.  UniProt: a hub for protein information , 2014, Nucleic Acids Res..

[19]  Epilepsy Phenome,et al.  De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. , 2014, American journal of human genetics.

[20]  Andrew Zisserman,et al.  Diagnostically relevant facial gestalt information from ordinary photos , 2014, eLife.

[21]  R. Kahn,et al.  Regulating the large Sec7 ARF guanine nucleotide exchange factors: the when, where and how of activation , 2014, Cellular and Molecular Life Sciences.

[22]  Chun Zhou,et al.  BIG1, a Brefeldin A-Inhibited Guanine Nucleotide-Exchange Factor, Is Required for GABA-Gated Cl– Influx Through Regulation of GABAA Receptor Trafficking , 2014, Molecular Neurobiology.

[23]  Y. Wang,et al.  BIG1, a brefeldin A-inhibited guanine nucleotide-exchange protein regulates neurite development via PI3K–AKT and ERK signaling pathways , 2013, Neuroscience.

[24]  J. Moss,et al.  Arf guanine nucleotide-exchange factors BIG1 and BIG2 regulate nonmuscle myosin IIA activity by anchoring myosin phosphatase complex , 2013, Proceedings of the National Academy of Sciences.

[25]  Ellen T. Gelfand,et al.  The Genotype-Tissue Expression (GTEx) project , 2013, Nature Genetics.

[26]  I. Adzhubei,et al.  Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2 , 2013, Current protocols in human genetics.

[27]  R. J. Ferland,et al.  Brefeldin A-inhibited Guanine Exchange Factor 2 Regulates Filamin A Phosphorylation and Neuronal Migration , 2012, The Journal of Neuroscience.

[28]  R. Piro,et al.  Evaluation of Candidate Genes from Orphan FEB and GEFS+ Loci by Analysis of Human Brain Gene Expression Atlases , 2011, PloS one.

[29]  D. Stephens,et al.  Specific Functions of BIG1 and BIG2 in Endomembrane Organization , 2010, PloS one.

[30]  Jianjun Hu,et al.  ADP-Ribosylation Factor 1 Regulates Asymmetric Cell Division in Female Meiosis in the Mouse1 , 2009, Biology of reproduction.

[31]  J. Cherfils,et al.  Interactions between Conserved Domains within Homodimers in the BIG1, BIG2, and GBF1 Arf Guanine Nucleotide Exchange Factors* , 2007, Journal of Biological Chemistry.

[32]  M. Aridor.  Visiting the ER: the endoplasmic reticulum as a target for therapeutics in traffic related diseases. , 2007, Advanced drug delivery reviews.

[33]  S. Batzoglou,et al.  Distribution and intensity of constraint in mammalian genomic sequence. , 2005, Genome research.

[34]  C. Walsh,et al.  Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex , 2004, Nature Genetics.

[35]  M. Aridor,et al.  Traffic Jams II: An Update of Diseases of Intracellular Transport , 2002, Traffic.

[36]  Xinhua Zhao,et al.  Localization of large ADP-ribosylation factor-guanine nucleotide exchange factors to different Golgi compartments: evidence for distinct functions in protein traffic. , 2002, Molecular biology of the cell.

[37]  S. Scherer,et al.  p200 ARF-GEP1: a Golgi-localized guanine nucleotide exchange protein whose Sec7 domain is targeted by the drug brefeldin A. , 1999, Proceedings of the National Academy of Sciences of the United States of America.

[38]  L. Maquat,et al.  A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance. , 1998, Trends in biochemical sciences.

[39]  J. Cherfils,et al.  Structure of the Sec7 domain of the Arf exchange factor ARNO , 1998, Nature.

[40]  S. Berkovic,et al.  Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21. , 1996, Journal of medical genetics.