| IL-1R8 expression in DLBCL regulates NK cell recruitment and influences patient prognosis. | IL-1R8 expression in DLBCL regulates NK cell recruitment and influences patient prognosis.
Yu M, Zhang Q, Wan L, Wang S, Zou L, Chen Z, Li F. | 11/3/2023 |
| RGS3 and IL1RAPL1 missense variants implicate defective neurotransmission in early-onset inherited schizophrenias. | RGS3 and IL1RAPL1 missense variants implicate defective neurotransmission in early-onset inherited schizophrenias.
Kanwal A, Pardo JV, Naz S., Free PMC Article | 11/5/2022 |
| The mutations and deletion of IL1RAPL1 gene are related to different phenotypes (even in the same family and in patients with the same mutation) including different severity of Intellectual Disability. | The Synaptic and Neuronal Functions of the X-Linked Intellectual Disability Protein Interleukin-1 Receptor Accessory Protein Like 1 (IL1RAPL1).
Montani C, Gritti L, Beretta S, Verpelli C, Sala C. | 08/3/2019 |
| Our study revealed that the expression of IL-1R8 significantly increased on in vitro-activated CD4+ T cells and was markedly higher on CD4+ T cells from allergic rhinitis patients than on cells from healthy controls. | Increased expression of IL-1R8 and a possible immunomodulatory role of its ligand IL-37 in allergic rhinitis patients.
Li C, Shen Y, Wang J, Ma ZX, Ke X, Wang ZH, Hong SL, Hu GH. | 10/13/2018 |
| IL-1R8 serves as a checkpoint for NK cell maturation and effector function; its genetic blockade unleashes NK-cell-mediated resistance to hepatic carcinogenesis, haematogenous liver and lung metastasis, and cytomegalovirus infection in mice | IL-1R8 is a checkpoint in NK cells regulating anti-tumour and anti-viral activity.
Molgora M, Bonavita E, Ponzetta A, Riva F, Barbagallo M, Jaillon S, Popović B, Bernardini G, Magrini E, Gianni F, Zelenay S, Jonjić S, Santoni A, Garlanda C, Mantovani A., Free PMC Article | 04/7/2018 |
| Altered DNA methylation in IL1RAPL1 involves in the etiology of Bipolar disorder and Major Depressive disorder . | Preliminary assessment of pre-morbid DNA methylation in individuals at high genetic risk of mood disorders.
Walker RM, Sussmann JE, Whalley HC, Ryan NM, Porteous DJ, McIntosh AM, Evans KL., Free PMC Article | 09/30/2017 |
| rs12007907 variant in IL1RAPL gene was negatively associated with asthma and IL-13 production in Latin American children. | Suggestive association between variants in IL1RAPL and asthma symptoms in Latin American children.
Marques CR, Costa GN, da Silva TM, Oliveira P, Cruz AA, Alcantara-Neves NM, Fiaccone RL, Horta BL, Hartwig FP, Burchard EG, Pino-Yanes M, Rodrigues LC, Lima-Costa MF, Pereira AC, Gouveia MH, Sant Anna HP, Tarazona-Santos E, Lima Barreto M, Figueiredo CA., Free PMC Article | 08/12/2017 |
| Our study expands the molecular repertoire of IL1RAPL1 mutations in intellectual disability and points out the need of more accurate clinical descriptions to better define the related phenotype | Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement.
Laino L, Bottillo I, Piedimonte C, Bernardini L, Torres B, Grammatico B, Bargiacchi S, Mulargia C, Calvani M, Cardona F, Castori M, Grammatico P. | 12/17/2016 |
| It was indicated that a defect in IL1RAPL1 that controls excitatory synapsis formation results in the excitation-inhibition balance affecting various cerebral functions. | [Phenotypic analysis of IL1RAPL1 knockout mice].
Yasumura M, Yoshida T, Mishina M. | 10/3/2015 |
| Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis. | Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.
Ramos-Brossier M, Montani C, Lebrun N, Gritti L, Martin C, Seminatore-Nole C, Toussaint A, Moreno S, Poirier K, Dorseuil O, Chelly J, Hackett A, Gecz J, Bieth E, Faudet A, Heron D, Frank Kooy R, Loeys B, Humeau Y, Sala C, Billuart P., Free PMC Article | 09/26/2015 |
| The interaction of the IL1RAPL1 family of proteins with PTPdelta and RhoGAP2 reveals a pathophysiological mechanism of cognitive impairment associated with a novel type of trans-synaptic signaling. | The X-linked intellectual disability protein IL1RAPL1 regulates excitatory synapse formation by binding PTPδ and RhoGAP2.
Valnegri P, Montrasio C, Brambilla D, Ko J, Passafaro M, Sala C., Free PMC Article | 03/10/2012 |
| The IL1RAPL1 gene is of interest as a candidate gene for autism spectrum disorder as mutations or deletions in the gene have previously been reported in individuals from families with ASD. | No evidence for IL1RAPL1 involvement in selected high-risk autism pedigrees from the AGRE data set.
Allen-Brady K, Cai G, Cannon D, Robison R, McMahon WM, Coon H, Buxbaum JD. | 12/24/2011 |
| Intragenic deletions in IL1RAPL1are relevant to the pathogenesis of X-linked mental retardation. | Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature.
Behnecke A, Hinderhofer K, Bartsch O, Nümann A, Ipach ML, Damatova N, Haaf T, Dufke A, Riess O, Moog U. | 05/21/2011 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| The function of truncated IL1RAPL1 protein in an autistic female with Asperger syndrome is severely altered in hippocampal neurons, demonstrated by its effect on neurite outgrowth activity. | Mutations in the calcium-related gene IL1RAPL1 are associated with autism.
Piton A, Michaud JL, Peng H, Aradhya S, Gauthier J, Mottron L, Champagne N, Lafrenière RG, Hamdan FF, S2D team, Joober R, Fombonne E, Marineau C, Cossette P, Dubé MP, Haghighi P, Drapeau P, Barker PA, Carbonetto S, Rouleau GA. | 01/21/2010 |
| IL1RAPL1 plays an important role in the etiology of X-linked mental retardation. | Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family.
Nawara M, Klapecki J, Borg K, Jurek M, Moreno S, Tryfon J, Bal J, Chelly J, Mazurczak T. | 01/21/2010 |
| Combined data suggested that IL1RAPL1 affected human cognitive ability to some extent, especially the memory and concentration capability. | A study on the correlation between IL1RAPL1 and human cognitive ability.
Gao X, Xi G, Niu Y, Zhang S, Fu R, Zheng Z, Zhang K, Lv S, He H, Xue M, Zhang F, Gao X, Xi G, Niu Y, Zhang S, Fu R, Zheng Z, Zhang K, Lv S, He H, Xue M, Zhang F. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (6) articlesA genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM).
Romero R, Friel LA, Velez Edwards DR, Kusanovic JP, Hassan SS, Mazaki-Tovi S, Vaisbuch E, Kim CJ, Erez O, Chaiworapongsa T, Pearce BD, Bartlett J, Salisbury BA, Anant MK, Vovis GF, Lee MS, Gomez R, Behnke E, Oyarzun E, Tromp G, Williams SM, Menon R. Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
Piton A, Gauthier J, Hamdan FF, Lafrenière RG, Yang Y, Henrion E, Laurent S, Noreau A, Thibodeau P, Karemera L, Spiegelman D, Kuku F, Duguay J, Destroismaisons L, Jolivet P, Côté M, Lachapelle K, Diallo O, Raymond A, Marineau C, Champagne N, Xiong L, Gaspar C, Rivière JB, Tarabeux J, Cossette P, Krebs MO, Rapoport JL, Addington A, Delisi LE, Mottron L, Joober R, Fombonne E, Drapeau P, Rouleau GA. Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes.
Romero R, Velez Edwards DR, Kusanovic JP, Hassan SS, Mazaki-Tovi S, Vaisbuch E, Kim CJ, Chaiworapongsa T, Pearce BD, Friel LA, Bartlett J, Anant MK, Salisbury BA, Vovis GF, Lee MS, Gomez R, Behnke E, Oyarzun E, Tromp G, Williams SM, Menon R. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium. Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.
Guilmatre A, Dubourg C, Mosca AL, Legallic S, Goldenberg A, Drouin-Garraud V, Layet V, Rosier A, Briault S, Bonnet-Brilhault F, Laumonnier F, Odent S, Le Vacon G, Joly-Helas G, David V, Bendavid C, Pinoit JM, Henry C, Impallomeni C, Germano E, Tortorella G, Di Rosa G, Barthelemy C, Andres C, Faivre L, Frébourg T, Saugier Veber P, Campion D. A study on the correlation between IL1RAPL1 and human cognitive ability.
Gao X, Xi G, Niu Y, Zhang S, Fu R, Zheng Z, Zhang K, Lv S, He H, Xue M, Zhang F, Gao X, Xi G, Niu Y, Zhang S, Fu R, Zheng Z, Zhang K, Lv S, He H, Xue M, Zhang F. | 05/21/2008 |
| DMD gene and its immediately distal neighbor, the 1.8 Mb IL1RAPL1 gene are abundantly expressed in normal brain but were dramatically underexpressed in every brain tumor cell line and xenograft. | DMD and IL1RAPL1: two large adjacent genes localized within a common fragile site (FRAXC) have reduced expression in cultured brain tumors.
McAvoy S, Ganapathiraju S, Perez DS, James CD, Smith DI. | 01/21/2010 |
| crystal structure at 2.3-A resolution of the TIR domain of IL-1RAPL | Crystal structure of the Toll/interleukin-1 receptor domain of human IL-1RAPL.
Khan JA, Brint EK, O'Neill LA, Tong L. | 01/21/2010 |
| Nearly all patients with deletions involving DAX1, but not DMD, had mental retardation if IL1RAPL1 was deleted. If ILIRAPLI & DMD were intact, the patients with DAX1 deletions only rarely had normal development. | IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1.
Zhang YH, Huang BL, Niakan KK, McCabe LL, McCabe ER, Dipple KM. | 01/21/2010 |
| Report confirms the role of the IL1RAPL1 gene in causing nonspecific mental retardation in males. | A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family.
Tabolacci E, Pomponi MG, Pietrobono R, Terracciano A, Chiurazzi P, Neri G. | 01/21/2010 |