Related references
Note: Only part of the references are listed.Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes
Tracy Tucker et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2014)
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
Claire Redin et al.
JOURNAL OF MEDICAL GENETICS (2014)
Cellular Resolution Maps of X Chromosome Inactivation: Implications for Neural Development, Function, and Disease
Hao Wu et al.
NEURON (2014)
Intragenic ILRAPL1 Deletion in a Male Patient With Intellectual Disability, Mild Dysmorphic Signs, Deafness, and Behavioral Problems
Chiara Barone et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing
Janneke H. M. Schuurs-Hoeijmakers et al.
JOURNAL OF MEDICAL GENETICS (2013)
Target-Specific Vulnerability of Excitatory Synapses Leads to Deficits in Associative Memory in a Model of Intellectual Disorder
Xander Houbaert et al.
JOURNAL OF NEUROSCIENCE (2013)
IL1RAPL1 Associated with Mental Retardation and Autism Regulates the Formation and Stabilization of Glutamatergic Synapses of Cortical Neurons through RhoA Signaling Pathway
Takashi Hayashi et al.
PLOS ONE (2013)
IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features
Erin L. Youngs et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2012)
Intragenic Deletions of IL1RAPL1: Report of Two Cases and Review of the Literature
Anne Behnecke et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Deletion of the Immunoglobulin Domain of IL1RAPL1 Results in Nonsyndromic X-Linked Intellectual Disability Associated With Behavioral Problems and Mild Dysmorphism
Karl J. Franek et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Clinically Relevant Single Gene or Intragenic Deletions Encompassing Critical Neurodevelopmental Genes in Patients With Developmental Delay, Mental Retardation, and/or Autism Spectrum Disorders
Fady M. Mikhail et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
CNV-WebStore: Online CNV Analysis, Storage and Interpretation
Geert Vandeweyer et al.
BMC BIOINFORMATICS (2011)
The X-linked intellectual disability protein IL1RAPL1 regulates excitatory synapse formation by binding PTPδ and RhoGAP2
Pamela Valnegri et al.
HUMAN MOLECULAR GENETICS (2011)
LOVD v.2.0: The Next Generation in Gene Variant Databases
Ivo F. A. C. Fokkema et al.
HUMAN MUTATION (2011)
IL-1 Receptor Accessory Protein-Like 1 Associated with Mental Retardation and Autism Mediates Synapse Formation by Trans-Synaptic Interaction with Protein Tyrosine Phosphatase δ
Tomoyuki Yoshida et al.
JOURNAL OF NEUROSCIENCE (2011)
Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability
Annabel C. Whibley et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
A Postsynaptic Signaling Pathway that May Account for the Cognitive Defect Due to IL1RAPL1 Mutation
Alice Pavlowsky et al.
CURRENT BIOLOGY (2010)
Synaptic Activity Controls Dendritic Spine Morphology by Modulating eEF2-Dependent BDNF Synthesis
Chiara Verpelli et al.
JOURNAL OF NEUROSCIENCE (2010)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
MutationTaster evaluates disease-causing potential of sequence alterations
Jana Marie Schwarz et al.
NATURE METHODS (2010)
IL1RAPL1 controls inhibitory networks during cerebellar development in mice
Frederic Gambino et al.
EUROPEAN JOURNAL OF NEUROSCIENCE (2009)
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
Patrick S. Tarpey et al.
NATURE GENETICS (2009)
Novel Mutation of IL1RAPL1 Gene in a Nonspecific X-Linked Mental Retardation (MRX) Family
Magdalena Nawara et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
Rapid and bi-directional regulation of AMPA receptor phosphorylation and trafficking by JNK
Gareth M. Thomas et al.
EMBO JOURNAL (2008)
Mutations in the calcium-related gene IL1RAPL1 are associated with autism
Amelie Piton et al.
HUMAN MOLECULAR GENETICS (2008)
Zebrafish orthologue of mental retardation protein IL1RAPL1 regulates presynaptic differentiation
Tomoyuki Yoshida et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2008)
Synaptic accumulation of PSD-95 and synaptic function regulated by phosphorylation of serine-295 of PSD-95 (vol 56, pg 488, 2007)
Myung Jong Kim et al.
NEURON (2008)
Proteomic analysis of activity-dependent synaptic plasticity in hippocampal neurons
Giovanni Piccoli et al.
JOURNAL OF PROTEOME RESEARCH (2007)
IL1-receptor accessory protein-like 1 (IL1RAPL1), a protein involved in cognitive functions, regulates N-type Ca2+-channel and neurite elongation
Frederic Gambino et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family
E Tabolacci et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
Synapse formation and mRNA localization in cultured Aplysia neurons
V Lyles et al.
NEURON (2006)
Rap2-JNK removes synaptic AMPA receptors during depotentiation
YH Zhu et al.
NEURON (2005)
Design and validation of a tool for neurite tracing and analysis in fluorescence microscopy images
E Meijering et al.
CYTOMETRY PART A (2004)
Crystal structure of the Toll/interleukin-1 receptor domain of human IL-1RAPL
JA Khan et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis
N Bahi et al.
HUMAN MOLECULAR GENETICS (2003)
Dissection of an inverted X(p21.3q27.1) chromosome associated with mental retardation
F Lepretre et al.
CYTOGENETIC AND GENOME RESEARCH (2003)
Characterization of signaling pathways activated by the interleukin 1 (IL-1) receptor homologue T1/ST2 - A Role for Jun N-terminal kinase in IL-4 induction
EK Brint et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Regulation of dendritic spine morphology and synaptic function by Shank and Homer
C Sala et al.
NEURON (2001)
Predicting deleterious amino acid substitutions
PC Ng et al.
GENOME RESEARCH (2001)
Share Paper
