IL1RAPL1

Summary

Gene Symbol: IL1RAPL1
Description: interleukin 1 receptor accessory protein like 1
Alias: IL1R8, IL1RAPL, MRX10, MRX21, MRX34, OPHN4, TIGIRR-2, interleukin-1 receptor accessory protein-like 1, IL-1-RAPL-1, IL-1RAPL-1, IL1RAPL-1, X-linked interleukin-1 receptor accessory protein-like 1, interleukin 1 receptor-8, mental retardation, X-linked 10, oligophrenin-4, three immunoglobulin domain-containing IL-1 receptor-related 2
Species: human

Top Publications

  1. doi A postsynaptic signaling pathway that may account for the cognitive defect due to IL1RAPL1 mutation
    Alice Pavlowsky
    Department of Genetics and Development, Institut Cochin, Universite Paris Descartes, Centre National de la Recherche Scientifique CNRS Unité Mixte de Recherche UMR 8104, 75014 Paris, France
    Curr Biol 20:103-15. 2010
  2. doi SIGIRR/TIR-8 is an inhibitor of Toll-like receptor signaling in primary human cells and regulates inflammation in models of rheumatoid arthritis
    Stefan K Drexler
    Imperial College London, London, UK
    Arthritis Rheum 62:2249-61. 2010
  3. doi Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature
    Anne Behnecke
    Institute of Human Genetics, Heidelberg University, Heidelberg, Germany
    Am J Med Genet A 155:372-9. 2011
  4. doi Mutations in the calcium-related gene IL1RAPL1 are associated with autism
    Amelie Piton
    Centre for Excellence in Neuromics, CHUM Research Center and Department of Medicine, University of Montreal, Montreal, QC, Canada H2L 4M1
    Hum Mol Genet 17:3965-74. 2008
  5. ncbi IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis
    Nadia Bahi
    Institut Cochin, INSERM Unité 567, CNRS UMR 8104, Universite Paris V, CHU Cochin, 24 rue du Faubourg Saint Jacques, 75 014 Paris, France
    Hum Mol Genet 12:1415-25. 2003
  6. doi A study on the correlation between IL1RAPL1 and human cognitive ability
    Xiaocai Gao
    College of Life Sciences, Shaanxi Normal University, 199 Chang An South Road, Xi an, Shaanxi 710062, PR China
    Neurosci Lett 438:163-7. 2008
  7. ncbi A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation
    A Carrie
    INSERM Unité 129 ICGM, CHU Cochin, 24 rue du Faubourg Saint Jacques, 75014 Paris, France
    Nat Genet 23:25-31. 1999
  8. ncbi A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family
    Elisabetta Tabolacci
    Istituto di Genetica Medica, Universita Cattolica, Roma, Italy
    Am J Med Genet A 140:482-7. 2006
  9. doi MicroRNAs in chronic lymphocytic leukemia: miRacle or miRage for prognosis and targeted therapies?
    Katrien Van Roosbroeck
    Department of Experimental Therapeutics, The University of Texas MD Anderson Cancer Center, Houston, TX
    Semin Oncol 43:209-14. 2016
  10. doi X-linked intellectual disability related genes disrupted by balanced X-autosome translocations
    Mariana Moysés-Oliveira
    Department of Morphology and Genetics, Genetics Division, Universidade Federal de Sao Paulo, Sao Paulo, Brazil
    Am J Med Genet B Neuropsychiatr Genet 168:669-77. 2015

Scientific Experts

Detail Information

Publications87

  1. doi A postsynaptic signaling pathway that may account for the cognitive defect due to IL1RAPL1 mutation
    Alice Pavlowsky
    Department of Genetics and Development, Institut Cochin, Universite Paris Descartes, Centre National de la Recherche Scientifique CNRS Unité Mixte de Recherche UMR 8104, 75014 Paris, France
    Curr Biol 20:103-15. 2010
    Interleukin-1 receptor accessory protein-like 1 (IL1RAPL1) gene mutations are associated with cognitive impairment ranging from nonsyndromic X-linked mental retardation to autism...
  2. doi SIGIRR/TIR-8 is an inhibitor of Toll-like receptor signaling in primary human cells and regulates inflammation in models of rheumatoid arthritis
    Stefan K Drexler
    Imperial College London, London, UK
    Arthritis Rheum 62:2249-61. 2010
    ..Therefore, the purpose of this study was to investigate the involvement of SIGIRR in regulating inflammation in disease-relevant models...
  3. doi Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature
    Anne Behnecke
    Institute of Human Genetics, Heidelberg University, Heidelberg, Germany
    Am J Med Genet A 155:372-9. 2011
    b>IL1RAPL1 (interleukin-1 receptor accessory protein-like 1) located at Xp21.3-22...
  4. doi Mutations in the calcium-related gene IL1RAPL1 are associated with autism
    Amelie Piton
    Centre for Excellence in Neuromics, CHUM Research Center and Department of Medicine, University of Montreal, Montreal, QC, Canada H2L 4M1
    Hum Mol Genet 17:3965-74. 2008
    ..MR) who carries a de novo frameshift Ile367SerfsX6 mutation in Interleukin-1 Receptor Accessory Protein-Like 1 (IL1RAPL1), a gene implicated in calcium-regulated vesicle release and dendrite differentiation...
  5. ncbi IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis
    Nadia Bahi
    Institut Cochin, INSERM Unité 567, CNRS UMR 8104, Universite Paris V, CHU Cochin, 24 rue du Faubourg Saint Jacques, 75 014 Paris, France
    Hum Mol Genet 12:1415-25. 2003
    ..genetics-based approaches allowed us to show that mutations in the IL-1 receptor accessory protein-like gene (IL1RAPL) are responsible for a non-specific form of X-linked mental retardation...
  6. doi A study on the correlation between IL1RAPL1 and human cognitive ability
    Xiaocai Gao
    College of Life Sciences, Shaanxi Normal University, 199 Chang An South Road, Xi an, Shaanxi 710062, PR China
    Neurosci Lett 438:163-7. 2008
    This study aimed to investigate the effects of IL1RAPL1 on the human cognitive ability. Four genetic marker sites, i.e., DXS1218, DXS9896, rs6526806 and rs12847959 on IL1RAPL1 were genotyped in 332 Qinba Mountain Area children...
  7. ncbi A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation
    A Carrie
    INSERM Unité 129 ICGM, CHU Cochin, 24 rue du Faubourg Saint Jacques, 75014 Paris, France
    Nat Genet 23:25-31. 1999
    ..Its high level of expression in post-natal brain structures involved in the hippocampal memory system suggests a specialized role for this new gene in the physiological processes underlying memory and learning abilities...
  8. ncbi A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family
    Elisabetta Tabolacci
    Istituto di Genetica Medica, Universita Cattolica, Roma, Italy
    Am J Med Genet A 140:482-7. 2006
    ..A stop mutation in exon 10 of the IL1RAPL1 gene (in Xp21) was found in the four affected males and in obligate carriers, allowing conclusive counseling of ..
  9. doi MicroRNAs in chronic lymphocytic leukemia: miRacle or miRage for prognosis and targeted therapies?
    Katrien Van Roosbroeck
    Department of Experimental Therapeutics, The University of Texas MD Anderson Cancer Center, Houston, TX
    Semin Oncol 43:209-14. 2016
    ..Finally, we will explore the potential of targeted miRNA therapy for the treatment of CLL, with a special emphasis on MRX34, the first miRNA mimic that is currently being evaluated for clinical use.
  10. doi X-linked intellectual disability related genes disrupted by balanced X-autosome translocations
    Mariana Moysés-Oliveira
    Department of Morphology and Genetics, Genetics Division, Universidade Federal de Sao Paulo, Sao Paulo, Brazil
    Am J Med Genet B Neuropsychiatr Genet 168:669-77. 2015
    ..cognitive impairment, reinforcing the association between the disrupted genes (TSPAN7-MRX58, KIAA2022-MRX98, and IL1RAPL1-MRX21/34) and intellectual disability...
  11. pmc Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis
    Mariana Ramos-Brossier
    Institut Cochin, Inserm U1016, CNRS UMR8104, Universite Paris Descartes, Paris 75014, France
    Hum Mol Genet 24:1106-18. 2015
    Mutations in interleukin-1 receptor accessory protein like 1 (IL1RAPL1) gene have been associated with non-syndromic intellectual disability (ID) and autism spectrum disorder...
  12. doi The hippocampo-amygdala control of contextual fear expression is affected in a model of intellectual disability
    Chun Lei Zhang
    Team Synapse in Cognition, Institut Interdisciplinaire de Neuroscience, Centre National de la Recherche Scientifique CNRS UMR5297, Universite de Bordeaux, Bordeaux, France
    Brain Struct Funct 220:3673-82. 2015
    ..Here, we report some deficits in contextual fear behavior in knockout mice for the intellectual disability gene Il1rapl1. Functional in vivo experiments revealed that the lack of conditioned response resulted from a local inhibitory ..
  13. ncbi Preface: MicroRNA: Short but not Small
    Pei Ying Lin
    Department of Internal Medicine, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan
    Microrna 3:1. 2014
    ..In caner aspect, first liposomeformulated miR-34 mimic-based drug, MRX34, has entered phase I study in 2013...
  14. doi Multilocus approaches reveal underestimated species diversity and inter-specific gene flow in pikas (Ochotona) from southwestern China
    Narayan Prasad Koju
    State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan 650223, China Kunming College of Life Science, University of Chinese Academy of Sciences, Kunming 650223, China Central Department of Zoology, Tribhuvan University, Kathmandu, Nepal
    Mol Phylogenet Evol 107:239-245. 2016
    ..Two mitochondrial (CYT B and COI) and five nuclear gene segments (RAG1, RAG2, TTN, OXAIL and IL1RAPL1) were sequenced...
  15. ncbi Phase I study of MRX34, a liposomal miR-34a mimic, administered twice weekly in patients with advanced solid tumors
    Muhammad S Beg
    Division of Hematology Oncology, University of Texas UT Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX, 75390 8852, USA
    Invest New Drugs . 2016
    ..phase I study assessed the maximum tolerated dose (MTD), safety, pharmacokinetics, and clinical activity of MRX34, a liposomal miR-34a mimic, in patients with advanced solid tumors...
  16. doi Suggestive association between variants in IL1RAPL and asthma symptoms in Latin American children
    Cintia Rodrigues Marques
    Instituto de Ciências da Saúde, Universidade Federal da Bahia, Salvador, Brazil
    Eur J Hum Genet . 2017
    ..9, MACH 1.0 and Minimac2. The variant rs12007907 (g.29483892C>A) in IL1RAPL gene was suggestively associated with asthma symptoms in discovery set (odds ratio (OR)=0...
  17. doi A case of startle epilepsy associated with IL1RAPL1 gene deletion
    Argiris Dinopoulos
    Third Department of Paediatrics, Attiko University Hospital, University of Athens, Athens, Greece
    Pediatr Neurol 51:271-4. 2014
    ..Startle epilepsy is a type of reflex epilepsy in which the seizures are mainly precipitated by unexpected sensory stimuli...
  18. doi Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes
    Cecile Mignon-Ravix
    INSERM, UMR_S 910, Marseille, France Aix Marseille Université, GMGF, Marseille, France
    Am J Med Genet A 164:1991-7. 2014
    ..Two CNVs affected known XLID genes and were therefore considered as causative (IL1RAPL1 and OPHN1 intragenic deletions)...
  19. pmc Whole exome sequencing in females with autism implicates novel and candidate genes
    Merlin G Butler
    Departments of Psychiatry and Behavioral Sciences, University of Kansas Medical Center, 3901 Rainbow Boulevard, MS 4015, Kansas City, KS 66160, USA
    Int J Mol Sci 16:1312-35. 2015
    ..Five females presented with functional variants of X-linked genes (IL1RAPL1, PIR, GABRQ, GPRASP2, SYTL4) with cadherin, protocadherin and ankyrin repeat gene families most commonly altered (..
  20. ncbi Mental retardation in a boy with congenital adrenal hypoplasia: a clue to contiguous gene syndrome involving DAX1 and IL1RAPL
    Rie Sasaki
    Department of Pediatrics, Keio University School of Medicine, Tokyo 160 8582, Japan
    Endocr J 50:303-7. 2003
    ..DAX1 (DSS-AHC critical region on the X chromosome, gene 1) for adrenal hypoplasia congenita and disrupting IL1RAPL (interleukin-1 receptor accessory protein-like) for non-specific MR...
  21. doi Is miR-34a a Well-equipped Swordsman to Conquer Temple of Molecular Oncology?
    Ammad Ahmad Farooqi
    Laboratory for Translational Oncology and Personalized Medicine, Rashid Latif Medical College, Lahore, Pakistan
    Chem Biol Drug Des 87:321-34. 2016
    ..b>MRX34, a liposome-formulated mimic of miR-34 for treatment of metastatic cancer with liver involvement and unresectable ..
  22. ncbi The role of microRNAs in the resistance to colorectal cancer treatments
    R Amirkhah
    University of Tehran Department of Cell and Molecular Biology, School of Biology, College of Science Tehran Iran
    Cell Mol Biol (Noisy-le-grand) 61:17-23. 2015
    ..b>MRX34, a miR-34a replacement is the first synthetic miRNA mimic to enter clinical testing...
  23. doi Allergic airway inflammation: unravelling the relationship between IL-37, IL-18Rα and Tir8/SIGIRR
    Lars Lunding
    a Division of Asthma Mouse Models, Priority Area Asthma and Allergy, Research Center Borstel, Airway Research Center North, Member of the German Center for Lung Research, Borstel, Germany
    Expert Rev Respir Med 9:739-50. 2015
    ..This article reviews the functions of these IL-1 cytokine family members in the regulation of allergic airway inflammation and asthma as they have been assessed clinically, in vitro and in mouse models. ..
  24. pmc The tumor-suppressive and potential therapeutic functions of miR-34a in epithelial carcinomas
    Brian D Adams
    a Department of Molecular, Cellular and Developmental Biology, Yale University, New Haven, CT, USA
    Expert Opin Ther Targets 20:737-53. 2016
    ..Because of this, there has been a major effort to therapeutically target these small RNAs. One in particular, a liposomal formulation of miR-34a (MRX34), has entered Phase I trials.
  25. ncbi Interleukin-38 is released from apoptotic cells to limit inflammatory macrophage responses
    Javier Mora
    Institute of Biochemistry I ZAFES, Faculty of Medicine, Goethe University Frankfurt, 60590 Frankfurt, Germany Faculty of Microbiology, University of Costa Rica, 2060 San Jose, Costa Rica
    J Mol Cell Biol . 2016
    ..Both full-length and truncated IL-38 bound to X-linked interleukin-1 receptor accessory protein-like 1 (IL1RAPL1)...
  26. pmc Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates
    Sabriye Korkut
    Erciyes University Faculty of Medicine, Department of Pediatrics, Division of Neonatology, Kayseri, Turkey, Phone 90 352 207 66 66 E mail
    J Clin Res Pediatr Endocrinol 8:468-471. 2016
    ..They were both found to have Xp21.2 deletions (DMD, NR0B1, GK, IL1RAPL1)...
  27. ncbi Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation
    H Jin
    Division of Medical and Molecular Genetics, GKT Medical School, Guy s Hospital, London, UK
    Eur J Hum Genet 8:87-94. 2000
    ..gene to be fused tail-to-tail with a gene encoding a novel member of the interleukin-1 receptor family, IL1RAPL1. This gene has a close relative in Xq22, which we call IL1RAPL2...
  28. pmc From cell biology to immunology: Controlling metastatic progression of cancer via microRNA regulatory networks
    Jae Hyon Park
    Yonsei University, College of Medicine, Seoul, Republic of Korea
    Oncoimmunology 5:e1230579. 2016
    ..of actions against various cancers has more recently led to the trial of a first cancer-targeted microRNA drug, MRX34. Yet, these microRNAs are mostly being studied and clinically trialed solely based on the understanding of their ..
  29. doi A qRT-PCR Method for Determining the Biodistribution Profile of a miR-34a Mimic
    Kevin Kelnar
    Mirna Therapeutics, 2150 Woodward Street, Suite 100, Austin, TX, 78744, USA
    Methods Mol Biol 1317:125-33. 2015
    b>MRX34 has recently entered the clinic as the first therapeutic product based on a microRNA (miRNA) mimic...
  30. doi Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement
    Luigi Laino
    Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo Forlanini Hospital, Rome, Italy Electronic address
    Eur J Paediatr Neurol 20:971-976. 2016
    X-linked intellectual disability accounts for 10-12% of cases of cognitive impairment in males. Mutations in IL1RAPL1 are an emerging form of apparently non-syndromic X-linked intellectual disability...
  31. ncbi Dissection of an inverted X(p21.3q27.1) chromosome associated with mental retardation
    F Lepretre
    FRC 3, Institut de Biologie de Lille, Lille, France
    Cytogenet Genome Res 101:124-9. 2003
    ..Further investigations by FISH showed that the IL1RAPL1 gene at Xp21...
  32. pmc The toll interleukin-1 receptor (IL-1R) 8/single Ig domain IL-1R-related molecule modulates the renal response to bacterial infection
    Jaklien C Leemans
    Department of Pathology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Infect Immun 80:3812-20. 2012
    ..coli...
  33. doi Therapeutic potential of SIGIRR in systemic lupus erythematosus
    Chao Wang
    Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, 81 Meishan Road, Hefei, 230032, Anhui, People s Republic of China
    Rheumatol Int 33:1917-21. 2013
    ..These results indicate that SIGIRR may represent a novel target for the treatment of SLE. In this review, we will discuss the SIGIRR and the therapeutic potential of modulating the pathway in SLE. ..
  34. doi Intragenic ILRAPL1 deletion in a male patient with intellectual disability, mild dysmorphic signs, deafness, and behavioral problems
    Chiara Barone
    Centro di Consulenza Genetica e Teratologia della Riproduzione, Dipartimento Materno Infantile, ARNAS Garibaldi Nesima, Catania, Italy
    Am J Med Genet A 161:1381-5. 2013
    ..To date >90 genes associated with X-linked intellectual disability have been identified and, among these, IL1RAPL1 (interleukin 1 receptor accessory protein-like 1), was first described and mapped to Xp21.3-22.1 in 1999...
  35. ncbi Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism
    S S Bhat
    Clin Genet 73:94-6. 2008
  36. doi Target-specific vulnerability of excitatory synapses leads to deficits in associative memory in a model of intellectual disorder
    Xander Houbaert
    Centre National de la Recherche Scientifique CNRS UMR5297, Universite de Bordeaux, 33077 Bordeaux, France
    J Neurosci 33:13805-19. 2013
    ..Here we studied the functional and behavioral consequences of the ID gene il1rapl1 deficiency in mice and reported that il1rapl1 constitutive deletion alters cued fear memory formation...
  37. doi Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia
    Michela Barbaro
    Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
    Horm Res Paediatr 77:100-7. 2012
    ..A synthetic probe set for multiplex ligation-dependent probe amplification analysis was developed to confirm and characterize NR0B1 deletions in patients with AHC and to correlate their genotypes with their divergent phenotypes...
  38. doi IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features
    Erin L Youngs
    Department of Psychiatry and Behavioral Sciences, University of Kansas Medical Center, Kansas City, KS, United States
    Eur J Med Genet 55:32-6. 2012
    ..detected with chromosomal microarray analysis involving the interleukin 1 receptor accessory protein-like 1 (IL1RAPL1) gene...
  39. doi β-Thalassemia trait association with autoimmune diseases: β-globin locus proximity to the immunity genes or role of hemorphins?
    Meric A Altinoz
    Meric A Altinoz, Department of Molecular Biology and Genetics, Halic University, Istanbul, Turkey
    Immunopharmacol Immunotoxicol 34:181-90. 2012
    ..in close proximity to eight genes with profound roles in immune regulation: STIM1, CD151, TC21/RRAS2, SIGIRR/TOLL/IL1R8, pp52/LSP1 (lymphocyte specific protein), TRIM21, toll interacting protein (TOLLIP) and SLEN3...
  40. ncbi Complex glycerol kinase deficiency - X-linked contiguous gene syndrome involving congenital adrenal hypoplasia, glycerol kinase deficiency, muscular Duchenne dystrophy and intellectual disability (IL1RAPL gene deletion)
    Beata Wikiera
    Klinika i Katedra Endokrynologii Wieku Rozwojowego Uniwersytetu Medycznego we Wroclawiu
    Pediatr Endocrinol Diabetes Metab 18:153-7. 2012
    ..Due to the fact that loci of all genes responsible for complex glycerol kinase deficiency were determined, it is possible to carry out molecular examination, confirm clinical diagnosis and determine female carriers of the disorder...
  41. pmc Genistein suppresses prostate cancer growth through inhibition of oncogenic microRNA-151
    Takeshi Chiyomaru
    Department of Urology, San Francisco Veterans Affairs Medical Center and University of California San Francisco, San Francisco, California, United States of America
    PLoS ONE 7:e43812. 2012
    ..In-silico analysis showed that several genes (CASZ1, IL1RAPL1, SOX17, N4BP1 and ARHGDIA) suggested to have tumor suppressive functions were target genes of miR-151...
  42. pmc IL1RAPL1 associated with mental retardation and autism regulates the formation and stabilization of glutamatergic synapses of cortical neurons through RhoA signaling pathway
    Takashi Hayashi
    Department of Molecular Neurobiology and Pharmacology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
    PLoS ONE 8:e66254. 2013
    Interleukin-1 receptor accessory protein-like 1 (IL1RAPL1) is associated with X-linked mental retardation and autism spectrum disorder. We found that IL1RAPL1 regulates synapse formation of cortical neurons...
  43. pmc MicroRNAs and other non-coding RNAs as targets for anticancer drug development
    Hui Ling
    1 Experimental Therapeutics and Leukemia Department, MD Anderson Cancer Center, University of Texas, Houston, Texas 77030, USA 2
    Nat Rev Drug Discov 12:847-65. 2013
    The first cancer-targeted microRNA (miRNA) drug - MRX34, a liposome-based miR-34 mimic - entered Phase I clinical trials in patients with advanced hepatocellular carcinoma in April 2013, and miRNA therapeutics are attracting special ..
  44. pmc A complex deletion-inversion-deletion event results in a chimeric IL1RAPL1-dystrophin transcript and a contiguous gene deletion syndrome
    J M Wheway
    J Med Genet 40:127-31. 2003
  45. pmc CpG array analysis of histone H3 lysine 4 trimethylation by chromatin immunoprecipitation linked to microarrays analysis in peripheral blood mononuclear cells of IgA nephropathy patients
    Suwen Qi
    Key Laboratory of Laboratory Medical Diagnostics, Ministry of Education, Chongqing Medical University, Chongqing, China
    Yonsei Med J 53:377-85. 2012
    ..The purpose of the present study was to investigate the aberrance of histone H3 lysine 4 trimethylation (H3K4me3) in patients with IgA Nephropathy (IgAN)...
  46. doi 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
    Department of Genetics, University of Alabama at Birmingham, 35294, USA
    Am J Med Genet A 155:2386-96. 2011
    ..2), and genes involved in neurotransmission (CHRNA7 at 15q13.3 and IL1RAPL1 at Xp21.2p21.3)...
  47. doi 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
    Department of Molecular Neurobiology and Pharmacology, Graduate School of Medicine, University of Tokyo, Tokyo 113 0033, Japan
    J Neurosci 31:13485-99. 2011
    ..IL-1-receptor accessory protein-like 1 (IL1RAPL1) is responsible for nonsyndromic MR and is associated with autism...
  48. pmc The X-linked intellectual disability protein IL1RAPL1 regulates excitatory synapse formation by binding PTPδ and RhoGAP2
    Pamela Valnegri
    CNR Institute of Neuroscience, Department of Pharmacology, University of Milan, 20129 Milan, Italy
    Hum Mol Genet 20:4797-809. 2011
    Mutations of the Interleukin-1-receptor accessory protein like 1 (IL1RAPL1) gene are associated with cognitive impairment ranging from non-syndromic X-linked mental retardation to autism...
  49. pmc Structural and functional deficits in a neuronal calcium sensor-1 mutant identified in a case of autistic spectrum disorder
    Mark T W Handley
    The Physiological Laboratory, School of Biomedical Sciences, University of Liverpool, Liverpool, United Kingdom
    PLoS ONE 5:e10534. 2010
    ..interactions with a range of target proteins one of which is interleukin receptor accessory protein like-1 (IL1RAPL1) protein...
  50. doi No evidence for IL1RAPL1 involvement in selected high-risk autism pedigrees from the AGRE data set
    Kristina Allen-Brady
    Utah ASD Research Project, Department of Psychiatry, University of Utah, Salt Lake City, Utah 84108, USA
    Autism Res 4:293-6. 2011
    ..We identified a suggestive linkage peak on chromosome Xp22.11-p21.2 that encompasses the IL1RAPL1 gene, a strong candidate gene for ASD...
  51. ncbi Genes responsible for nonspecific mental retardation
    S Castellvi-Bel
    Servei de Genètica, Hosital Clinic i Provincial, Barcelona, Spain
    Mol Genet Metab 72:104-8. 2001
    ..Eight genes involved in nonspecific X-linked MR have been identified so far, including FMR2, OPHN1, GDI1, PAK3, IL1RAPL, TM4SF2, VCX-A, and ARHGEF6...
  52. pmc X linked mental retardation: a clinical guide
    F L Raymond
    Cambridge Institute of Medical Research, Department of Medical Genetics, University of Cambridge, Addenbrooke s Hospital, Cambridge, CB2 2XY, UK
    J Med Genet 43:193-200. 2006
    ..Secondly, the relative prevalence of genes causing only non-syndromic mental retardation (IL1RAPL1, TM4SF2, ZNF41, FTSJ1, DLG3, FACL4, PAK3, ARHGEF6, FMR2, and GDI) is summarised...
  53. ncbi X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family
    Hilde Van Esch
    Centre for Human Genetics, University Hospital Leuven, Herestraat 49, 3000 Leuven, Belgium
    Eur J Med Genet 48:145-52. 2005
    ..00. No mutations were found in the presented family for two known MRX genes mapping to this interval, ARX and IL1RAPL-1. These data indicate that the interval Xp22.1-p21.3 contains at least one additional MRXS gene.
  54. ncbi IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1
    Yao Hua Zhang
    Department of Pediatrics, UCLA School of Medicine, Los Angeles, California 90095 7088, USA
    Hum Mutat 24:273. 2004
    b>IL1RAPL1 (interleukin-1 receptor accessory protein-like, gene 1) has recently been shown to be mutated in patients with X-linked mental retardation...
  55. ncbi Crystal structure of the Toll/interleukin-1 receptor domain of human IL-1RAPL
    Javed A Khan
    Department of Biological Sciences, Columbia University, New York, New York 10027, USA
    J Biol Chem 279:31664-70. 2004
    ..Deletion mutagenesis studies show that the activation of JNK by IL-1RAPL does not depend on the integrity of its TIR domain, suggesting a distinct mechanism of signaling through this receptor...
  56. ncbi [Monogenic causes of nonspecific X-linked mental retardation molecular aspects]
    Magdalena Nawara
    Zaklad Genetyki Medycznej, Instytut Matki i Dziecka, Kasprzaka 17a, 01 211 Warszawa, Poland
    Med Wieku Rozwoj 6:281-94. 2002
    ..nonspecific X-linked mental retardation have been identified so far, including FMR2, GDI1, OPHN1, PAK3, ARHGEF6, IL1RAPL, TM4SF2, and FACL4. Four other MECP2, RSK2, ARX, ATR-X are involved in syndromic and nonspecific forms of MR...
  57. ncbi Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees
    Takashi Kitano
    Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany
    Mol Biol Evol 20:1281-9. 2003
    ..A possible exception is FMR2, which shows a higher number of nonsynonymous than synonymous substitutions on the human lineage, suggesting the action of positive selection...
  58. pmc Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency
    Frederic Laumonnier
    Service de GénétiquehyphenINSERM U316, CHU Bretonneau, Tours, France
    Am J Hum Genet 71:1450-5. 2002
    ..in a female patient with mild mental retardation revealed localization of the Xp breakpoint in the IL1RAPL gene at Xp21...
  59. ncbi Activity-dependent regulation of genes implicated in X-linked non-specific mental retardation
    B Boda
    Neuropharmacology and Department of Morphology, Centre Medical Universitaire, 1 rue Michel Servet, 1211, Geneva 4, Switzerland
    Neuroscience 114:13-7. 2002
    ..These include OPHN1, GDI1, PAK3, IL1RAPL, TM4SF2, FMR2 and RSK2...
  60. ncbi IL1RAPL2 maps to Xq22 and is specifically expressed in the central nervous system
    M I Ferrante
    Telethon Institute of Genetics and Medicine TIGEM, Milan, Italy
    Gene 275:217-21. 2001
    We report the identification and characterization of a homologue of the IL1RAPL transcript which is responsible for a form of X-linked mental retardation (MRX34)...
  61. ncbi Common fragile sites, extremely large genes, neural development and cancer
    David I Smith
    Co head of the Ovarian Cancer Program, Mayo Clinic Cancer Center, Mayo Clinic College of Medicine, Division of Experimental Pathology, Department of Laboratory Medicine and Pathology, Rochester, MN 55905, USA
    Cancer Lett 232:48-57. 2006
    ..09 Mbs in FRAXC), LRP1B (1.9 Mbs in FRA2F), CTNNA3 (1.78 Mbs in FRA10D), DAB1 (1.55 Mbs in FRA1B), and IL1RAPL1 (1.36 Mbs in FRAXC)...
  62. ncbi Computational identification, cloning, and characterization of IL-1R9, a novel interleukin-1 receptor-like gene encoded over an unusually large interval of human chromosome Xq22.2-q22.3
    T R Sana
    Department of Molecular Biology, DNAX Research Institute, 901 California Avenue, Palo Alto, California 94304 1104, USA
    Genomics 69:252-62. 2000
    ..IL-1R9 shows restricted expression in fetal brain and is highly homologous to IL1RAPL (A. Carrie et al., 1999 Nat. Genet...
  63. ncbi Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation
    K Kutsche
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Nat Genet 26:247-50. 2000
    ..X-chromosomal genes mutated in nonspecific mental retardation (MRX) have been identified: FMR2, GDI1, RPS6KA3, IL1RAPL, TM4SF2, OPHN1 and PAK3 (refs 2-9)...
  64. ncbi Identification and characterization of two members of a novel class of the interleukin-1 receptor (IL-1R) family. Delineation of a new class of IL-1R-related proteins based on signaling
    T L Born
    Immunex Corp, Seattle, Washington 98101, USA
    J Biol Chem 275:29946-54. 2000
    ..T., Kahn, A., Fryns, J. P., Beldjord, C., Marynen, P., and Chelly, J. (1999) Nat. Genet. 23, 25-31) and called IL1RAPL, a name we will also use henceforth...
  65. ncbi Rat homolog of mouse interleukin-1 receptor accessory protein: cloning, localization and modulation studies
    C Liu
    Neurocrine Biosciences, Inc, San Diego, CA 92121, USA
    J Neuroimmunol 66:41-8. 1996
    ..On the other hand, the presence of the IL-1RAcP in brain areas which show an absence of type I IL-1 receptors suggests additional functions for this protein in the rat...
  66. ncbi Regional localisation of two non-specific X-linked mental retardation genes (MRX30 and MRX31)
    A J Donnelly
    Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, Adelaide, Australia
    Am J Med Genet 64:113-20. 1996
    ..There are now at least 8 distinct loci associated with non-specific mental retardation on the X chromosome defined, in order from pter to qter, by localisation for MRX24, MRX2, MRX10, MRX1, MRX30, MRX27, FRAXE and MRX3.
  67. ncbi Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38)
    C K Schutz
    Department of Biology McMaster University, Hamilton, Ontario, Canada
    Am J Med Genet 64:89-96. 1996
    ..The map intervals of 5 X-linked mental retardation loci, MRX2 (Xp22.1-p22.2), MRX19 (Xp22), MRX21 (Xp21.1-p22.3), MRX29 (Xp21.2-p22.1), and MRX32 (Xp21.2-p22...
  68. ncbi Seventh International Workshop on the Fragile X and X-linked Mental Retardation
    L Tranebjaerg
    Department of Medical Genetics, University Hospital of Tromsø, Norway
    Am J Med Genet 64:1-14. 1996
  69. pmc Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3
    L Kozak
    Istituto di Genetica Medica, Facolta di Medicina A Gemelli, Universita Cattolica del S Cuore, Roma, Italy
    J Med Genet 30:866-9. 1993
    ..11 at theta = 0.00 was obtained with DXS164 and DXS278. The linked region spanned chromosomal bands Xp21.1-Xp22.3, that is, the same portion of the X chromosome where MRX2 and MRX10-13 have been previously localised.
  70. doi IL1RAPL1 controls inhibitory networks during cerebellar development in mice
    Frederic Gambino
    Institut des Neurosciences Cellulaires et Integratives, UPR3212, Centre National de la Recherche Scientifique, 67084 Strasbourg, France
    Eur J Neurosci 30:1476-86. 2009
    ..Here, we investigate the role of interleukin-1 receptor accessory protein-like 1 (IL1RAPL1), a protein linked to cognitive function which interacts with neuronal calcium sensor 1 (NCS-1) in the ..
  71. doi Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD)
    Katri Kantojärvi
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland
    Autism Res 4:228-33. 2011
    ..also analyzed ACSL4 and DLG3, which have previously been known to cause XLMR and IL1RAPL2, a homologous gene for IL1RAPL1 that is mutated in autism and XLMR...
  72. pmc Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study
    Erin N Smith
    Scripps Genomic Medicine and Scripps Translational Science Institute, La Jolla, California, United States of America
    PLoS Genet 6:e1001094. 2010
    ....
  73. doi Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis
    Shozo Honda
    Department of Molecular Cytogenetics, Medical Research Institute and School of Biomedical Science, Tokyo Medical and Dental University, Tokyo, Japan
    J Hum Genet 55:590-9. 2010
    ..2) and dup(X)(p21.3) containing part of REPS2, NHS and IL1RAPL1 in two unrelated families, duplication of Xp22.2 including part of FRMPD4, duplication of Xq21...
  74. ncbi Nomenclature guidelines for X-linked mental retardation
    J C Mulley
    Department of Cytogenetics and Molecular Genetics, Adelaide Children s Hospital, Australia
    Am J Med Genet 43:383-91. 1992
    ..Prior approval of availability for proposed gene symbols must be obtained from the Nomenclature Committee of the Human Gene Mapping Workshops...
  75. pmc Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia
    A Piton
    Department of Medicine, Centre of Excellence in Neuromics, CHUM Research Centre, University of Montreal, Montreal, QC, Canada
    Mol Psychiatry 16:867-80. 2011
    ..Truncating mutations in genes encoding the calcium-related protein IL1RAPL1 (already described in Piton et al...
  76. doi A unified theory of autism revisited: linkage evidence points to chromosome X using a high-risk subset of AGRE families
    Kristina Allen-Brady
    Department of Psychiatry, Utah Autism Research Project, University of Utah, Salt Lake City, Utah, 84108, USA
    Autism Res 3:47-52. 2010
    ..01, maximum HLOD 2.08) under a dominant model on chromosome Xp22.11-p21.2 that encompasses the IL1RAPL1 gene. Mutations or deletions in IL1RAPL1 have been previously reported in three families with autism...
  77. ncbi [Contiguous gene deletion syndrome in Xp21: an unusual form of presentation]
    I Sanz-Ruiz
    Servicio de Pediatria, Hospital Universitario Doctor Peset, Valencia, Espana
    Rev Neurol 49:472-4. 2009
    ..We report a case of an infant where the association of Duchenne's muscular dystrophy (DMD) and pseudohypertriglyceridaemia led to the diagnosis of contiguous gene deletion syndrome in Xp21...
  78. doi Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism
    Karl J Franek
    Center for Molecular Studies, J C Self Research Institute of Human Genetics, Greenwood Genetic Center, South Carolina, USA
    Am J Med Genet A 155:1109-14. 2011
    ..Mutations in IL1RAPL1 have been found in multiple families with non-syndromic X-linked intellectual disability...
  79. doi Insertion of the IL1RAPL1 gene into the duplication junction of the dystrophin gene
    Zhujun Zhang
    Department of Pediatrics, Kobe University Graduate School of Medicine, Chuo, Kobe, Japan
    J Hum Genet 54:466-73. 2009
    ..Here, we report the insertion of a part of the IL1RAPL1 (interleukin-1 receptor accessory protein-like 1) gene into the duplication junction site...
  80. doi Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family
    Magdalena Nawara
    Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
    Am J Med Genet A 146:3167-72. 2008
    ..Subsequent mutation analysis of genes located in this interval allowed us to identify a partial deletion of the IL1RAPL1 gene...
  81. doi Zebrafish orthologue of mental retardation protein IL1RAPL1 regulates presynaptic differentiation
    Tomoyuki Yoshida
    Department of Molecular Neurobiology and Pharmacology, Graduate School of Medicine, University of Tokyo, 7 3 1 Hongo, Bunkyo ku, Tokyo 113 0033, Japan
    Mol Cell Neurosci 39:218-28. 2008
    IL1-receptor accessory protein-like 1 (IL1RAPL1), a member of interleukin-1/toll receptor (TIR) family, is responsible for a nonsyndromic form of mental retardation (MR)...
  82. doi DMD and IL1RAPL1: two large adjacent genes localized within a common fragile site (FRAXC) have reduced expression in cultured brain tumors
    S McAvoy
    Division of Experimental Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA
    Cytogenet Genome Res 119:196-203. 2007
    ..However, the 2.0 Mb DMD gene and its immediately distal neighbor, the 1.8 Mb IL1RAPL1 gene are CFS genes contained within the FRAXC CFS region (Xp21.2-->p21.1)...
  83. ncbi Non-random inactivation of large common fragile site genes in different cancers
    S McAvoy
    Division of Experimental Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA
    Cytogenet Genome Res 118:260-9. 2007
    ..of the 20 known large CFS genes: FHIT, WWOX, PARK2, GRID2, NBEA, DLG2, RORA isoforms 1 and 4, DAB1, CNTNAP2, DMD, IL1RAPL1, IMMP2L and LARGE in breast, ovarian, endometrial and brain cancers using real-time RT-PCR analysis...
  84. pmc IL1-receptor accessory protein-like 1 (IL1RAPL1), a protein involved in cognitive functions, regulates N-type Ca2+-channel and neurite elongation
    Frederic Gambino
    Département Neurotransmission et Sécrétion Neuroendocrine, Institut des Neurosciences Cellulaires et Integratives, Universite Louis Pasteur, 5 rue Blaise Pascal, 67084 Strasbourg, France
    Proc Natl Acad Sci U S A 104:9063-8. 2007
    Null mutations in the IL1-receptor accessory protein-like 1 gene (IL1RAPL1) are responsible for an inherited X-linked form of cognitive impairment...
  85. ncbi A multiplex assay for the detection and mapping of complex glycerol kinase deficiency
    Roger D Klein
    Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55901, USA
    Clin Chem 52:1864-70. 2006
    ..Molecular testing to delineate this deletion is expensive and has only limited availability...
  86. ncbi [Non-specific X-linked mental retardation]
    F Martínez-Castellano
    Hospital Universitario La Fe, 46009 Valencia, Espana
    Rev Neurol 42:S77-83. 2006
    ..Genetic linkage studies showed it to have a high rate of genetic heterogeneity...