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Select item 53864171.

Suggestive association between variants in IL1RAPL and asthma symptoms in Latin American children

Cintia Rodrigues Marques, Gustavo NO Costa, Thiago Magalhães da Silva, Pablo Oliveira, Alvaro A Cruz, Neuza Maria Alcantara-Neves, Rosemeire L Fiaccone, Bernardo L Horta, Fernando Pires Hartwig, Esteban G Burchard, Maria Pino-Yanes, Laura C Rodrigues, Maria Fernanda Lima-Costa, Alexandre C Pereira, Mateus H Gouveia, Hanaisa P Sant Anna, Eduardo Tarazona-Santos, Maurício Lima Barreto, Camila Alexandrina Figueiredo

Eur J Hum Genet. 2017 Apr; 25(4): 439–445. Published online 2017 Jan 25. doi: 10.1038/ejhg.2016.197

PMCID:: PMC5386417

Abstract Article PDF–706K

Select item 48670072.

Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis

Mariana Ramos-Brossier, Caterina Montani, Nicolas Lebrun, Laura Gritti, Christelle Martin, Christine Seminatore-Nole, Aurelie Toussaint, Sarah Moreno, Karine Poirier, Olivier Dorseuil, Jamel Chelly, Anna Hackett, Jozef Gecz, Eric Bieth, Anne Faudet, Delphine Heron, Frank Kooy, Bart Loeys, Yann Humeau, Carlo Sala, Pierre Billuart

Hum Mol Genet. Author manuscript;

Published in final edited form as: Hum Mol Genet. 2015 Feb : 523. Published online 2014 Oct 9. doi: 10.1093/hmg/ddu523

PMCID:: PMC4867007

Abstract Article

Select item 42152873.

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Claire Redin, Bénédicte Gérard, Julia Lauer, Yvan Herenger, Jean Muller, Angélique Quartier, Alice Masurel-Paulet, Marjolaine Willems, Gaétan Lesca, Salima El-Chehadeh, Stéphanie Le Gras, Serge Vicaire, Muriel Philipps, Michaël Dumas, Véronique Geoffroy, Claire Feger, Nicolas Haumesser, Yves Alembik, Magalie Barth, Dominique Bonneau, Estelle Colin, Hélène Dollfus, Bérénice Doray, Marie-Ange Delrue, Valérie Drouin-Garraud, Elisabeth Flori, Mélanie Fradin, Christine Francannet, Alice Goldenberg, Serge Lumbroso, Michèle Mathieu-Dramard, Dominique Martin-Coignard, Didier Lacombe, Gilles Morin, Anne Polge, Sylvie Sukno, Christel Thauvin-Robinet, Julien Thevenon, Martine Doco-Fenzy, David Genevieve, Pierre Sarda, Patrick Edery, Bertrand Isidor, Bernard Jost, Laurence Olivier-Faivre, Jean-Louis Mandel, Amélie Piton

J Med Genet. 2014 Nov; 51(11): 724–736. Published online 2014 Aug 28. doi: 10.1136/jmedgenet-2014-102554

PMCID:: PMC4215287

Abstract Article PDF–2.6M

Select item 10165714.

Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3.

L Kozák, P Chiurazzi, M Genuardi, M G Pomponi, M Zollino, G Neri

J Med Genet. 1993 Oct; 30(10): 866–869. doi: 10.1136/jmg.30.10.866

PMCID:: PMC1016571

Summary Page Browse PDF–818K

Select item 96330535.

RGS3 and IL1RAPL1 missense variants implicate defective neurotransmission in early-onset inherited schizophrenias

Ambreen Kanwal, José V. Pardo, Sadaf Naz

J Psychiatry Neurosci. 2022 Nov-Dec; 47(6): E379–E390. Published online 2022 Nov 1. doi: 10.1503/jpn.220070

PMCID:: PMC9633053

Abstract Article PDF–888K

Select item 60884046.

Loss of SETDB1 decompacts the inactive X chromosome in part through reactivation of an enhancer in the IL1RAPL1 gene

Zhuo Sun, Brian P. Chadwick

Epigenetics Chromatin. 2018; 11: 45. Published online 2018 Aug 13. doi: 10.1186/s13072-018-0218-9

PMCID:: PMC6088404

Abstract Article PDF–6.3M

Select item 50068437.

Preliminary assessment of pre‐morbid DNA methylation in individuals at high genetic risk of mood disorders

Rosie May Walker, Jessika Elizabeth Sussmann, Heather Clare Whalley, Niamh Margaret Ryan, David John Porteous, Andrew Mark McIntosh, Kathryn Louise Evans

Bipolar Disord. 2016 Aug; 18(5): 410–422. Published online 2016 Jul 21. doi: 10.1111/bdi.12415

PMCID:: PMC5006843

Abstract Article PDF–453K

Select item 57682438.

IL-1R8 is a checkpoint in NK cells regulating anti-tumor and anti-viral activity

Martina Molgora, Eduardo Bonavita, Andrea Ponzetta, Federica Riva, Marialuisa Barbagallo, Sébastien Jaillon, Branka Popovic, Giovanni Bernardini, Elena Magrini, Francesca Gianni, Santiago Zelenay, Stipan Jonjic, Angela Santoni, Cecilia Garlanda, Alberto Mantovani

Nature. Author manuscript; available in PMC 2018 Apr 25.

Published in final edited form as: Nature. 2017 Nov 2; 551(7678): 110–114. Published online 2017 Oct 25. doi: 10.1038/nature24293

PMCID:: PMC5768243

Abstract Article PDF–3.2M

Select item 48331929.

Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

Detelina Grozeva, Keren Carss, Olivera Spasic‐Boskovic, Maria‐Isabel Tejada, Jozef Gecz, Marie Shaw, Mark Corbett, Eric Haan, Elizabeth Thompson, Kathryn Friend, Zaamin Hussain, Anna Hackett, Michael Field, Alessandra Renieri, Roger Stevenson, Charles Schwartz, James A.B. Floyd, Jamie Bentham, Catherine Cosgrove, Bernard Keavney, Shoumo Bhattacharya, Italian X‐linked Mental Retardation Project, UK10K Consortium, GOLD Consortium, Matthew Hurles, F. Lucy Raymond

Hum Mutat. 2015 Dec; 36(12): 1197–1204. Published online 2015 Sep 30. doi: 10.1002/humu.22901

PMCID:: PMC4833192

Abstract Article PDF–230K

Select item 322154110.

The X-linked intellectual disability protein IL1RAPL1 regulates excitatory synapse formation by binding PTPδ and RhoGAP2

Pamela Valnegri, Chiara Montrasio, Dario Brambilla, Jaewon Ko, Maria Passafaro, Carlo Sala

Hum Mol Genet. 2011 Dec 15; 20(24): 4797–4809. Published online 2011 Sep 17. doi: 10.1093/hmg/ddr418

PMCID:: PMC3221541

Abstract Article PDF–847K

Select item 662328711.

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, Misato Yasumura, Takeshi Uemura, Sung-Jin Lee, Moonjin Ra, Ryo Taguchi, Yoichiro Iwakura, Masayoshi Mishina

J Neurosci. 2011 Sep 21; 31(38): 13485–13499. doi: 10.1523/JNEUROSCI.2136-11.2011

PMCID:: PMC6623287

Abstract Article PDF–4.9M

Select item 328913912.

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia

A Piton, J Gauthier, FF Hamdan, RG Lafrenière, Y Yang, E Henrion, S Laurent, A Noreau, P Thibodeau, L Karemera, D Spiegelman, F Kuku, J Duguay, L Destroismaisons, P Jolivet, M Côté, K Lachapelle, O Diallo, A Raymond, C Marineau, N Champagne, L Xiong, C Gaspar, J-B Rivière, J Tarabeux, P Cossette, M-O Krebs, JL Rapoport, A Addington, LE DeLisi, L Mottron, R Joober, E Fombonne, P Drapeau, GA Rouleau

Mol Psychiatry. Author manuscript; available in PMC 2012 Feb 28.

Published in final edited form as: Mol Psychiatry. 2011 Aug; 16(8): 867–880. Published online 2010 May 18. doi: 10.1038/mp.2010.54

PMCID:: PMC3289139

Abstract Article PDF–1.2M

Select item 293652113.

Longitudinal Genome-Wide Association of Cardiovascular Disease Risk Factors in the Bogalusa Heart Study

Erin N. Smith, Wei Chen, Mika Kähönen, Johannes Kettunen, Terho Lehtimäki, Leena Peltonen, Olli T. Raitakari, Rany M. Salem, Nicholas J. Schork, Marian Shaw, Sathanur R. Srinivasan, Eric J. Topol, Jorma S. Viikari, Gerald S. Berenson, Sarah S. Murray

PLoS Genet. 2010 Sep; 6(9): e1001094. Published online 2010 Sep 9. doi: 10.1371/journal.pgen.1001094

PMCID:: PMC2936521

Abstract Article PDF–495K

Select item 295884414.

Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation

Audrey Guilmatre, Christèle Dubourg, Anne-Laure Mosca, Solenn Legallic, Alice Goldenberg, Valérie Drouin-Garraud, Valérie Layet, Antoine Rosier, Sylvain Briault, Frédérique Bonnet-Brilhault, Frédéric Laumonnier, Sylvie Odent, Gael Le Vacon, Géraldine Joly-Helas, Véronique David, Claude Bendavid, Jean-Michel Pinoit, Céline Henry, Caterina Impallomeni, Eva Germano, Gaetano Tortorella, Gabriella Di Rosa, Catherine Barthelemy, Christian Andres, Laurence Faivre, Thierry Frébourg, Pascale Saugier Veber, Dominique Campion

Arch Gen Psychiatry. Author manuscript; available in PMC 2010 Oct 25.

Published in final edited form as: Arch Gen Psychiatry. 2009 Sep; 66(9): 947–956. doi: 10.1001/archgenpsychiatry.2009.80

PMCID:: PMC2958844

Abstract Article

Select item 360488915.

Identification of Fetal and Maternal Single Nucleotide Polymorphisms in Candidate Genes That Predispose to Spontaneous Preterm Labor with Intact Membranes

Roberto Romero, Digna R. Velez, Juan Pedro Kusanovic, Sonia S. Hassan, Shali Mazaki-Tovi, Edi Vaisbuch, Chong Jai Kim, Tinnakorn Chaiworapongsa, Brad Pearce, Lara A. Friel, Jacquelaine Bartlett, Madan Kumar Anant, Benjamin A. Salisbury, Gerald F. Vovis, Min Seob Lee, Ricardo Gomez, Ernesto Behnke, Enrique Oyarzun, Gerard Tromp, Scott M. Williams, Ramkumar Menon

Am J Obstet Gynecol. Author manuscript; available in PMC 2013 Mar 21.

Published in final edited form as: Am J Obstet Gynecol. 2010 May; 202(5): 431.e1–431.34. doi: 10.1016/j.ajog.2010.03.026

PMCID:: PMC3604889

Abstract Article PDF–4.4M

Select item 298966216.

A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM)

Roberto ROMERO, Lara A. FRIEL, Digna R. VELEZ EDWARDS, Juan Pedro KUSANOVIC, Sonia S. HASSAN, Shali MAZAKI-TOVI, Edi VAISBUCH, Chong Jai KIM, Offer EREZ, Tinnakorn CHAIWORAPONGSA, Brad D. PEARCE, Jacquelaine BARTLETT, Benjamin A. SALISBURY, Madan Kumar ANANT, Gerald F. VOVIS, Min Seob LEE, Ricardo GOMEZ, Ernesto BEHNKE, Enrique OYARZUN, Gerard TROMP, Scott M. WILLIAMS, Ramkumar MENON

Am J Obstet Gynecol. Author manuscript; available in PMC 2011 Oct 1.

Published in final edited form as: Am J Obstet Gynecol. 2010 Oct; 203(4): 361.e1–361.e30. Published online 2010 Jul 31. doi: 10.1016/j.ajog.2010.05.026

PMCID:: PMC2989662

Abstract Article PDF–640K

Select item 736077417.

NudCL2 regulates cell migration by stabilizing both myosin-9 and LIS1 with Hsp90

Wenwen Chen, Wei Wang, Xiaoxia Sun, Shanshan Xie, Xiaoyang Xu, Min Liu, Chunxia Yang, Min Li, Wen Zhang, Wei Liu, Liangjing Wang, Tianhua Zhou, Yuehong Yang

Cell Death Dis. 2020 Jul; 11(7): 534. Published online 2020 Jul 14. doi: 10.1038/s41419-020-02739-9

PMCID:: PMC7360774

Abstract Article PDF–3.3M

Select item 660091518.

TNF-α inhibits glucocorticoid receptor-induced gene expression by reshaping the GR nuclear cofactor profile

Karen Dendoncker, Steven Timmermans, Jolien Vandewalle, Melanie Eggermont, Joanna Lempiäinen, Evelien Van Hamme, Sylviane Dewaele, Sofie Vandevyver, Marlies Ballegeer, Jolien Souffriau, Lise Van Wyngene, Kelly Van Looveren, Tineke Vanderhaeghen, Rudi Beyaert, Karolien De Bosscher, Jorma J. Palvimo, Marc Van Montagu, Claude Libert

Proc Natl Acad Sci U S A. 2019 Jun 25; 116(26): 12942–12951. Published online 2019 Jun 10. doi: 10.1073/pnas.1821565116

Correction in:: Proc Natl Acad Sci U S A. 2019 Jul 30; 116(31): 15745.

PMCID:: PMC6600915

Abstract Article PDF–1.7M

Select item 31094819.

DNA Cloning Using In Vitro Site-Specific Recombination

James L. Hartley, Gary F. Temple, Michael A. Brasch

Genome Res. 2000 Nov; 10(11): 1788–1795. doi: 10.1101/gr.143000

PMCID:: PMC310948

Abstract Article PDF–1.7M

Select item 294516820.

Variation at the NFATC2 Locus Increases the Risk of Thiazolidinedione-Induced Edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) Study

Swneke D. Bailey, Changchun Xie, Ron Do, Alexandre Montpetit, Rafael Diaz, Viswanathan Mohan, Bernard Keavney, Salim Yusuf, Hertzel C. Gerstein, James C. Engert, Sonia Anand, on behalf of the DREAM investigators

Diabetes Care. 2010 Oct; 33(10): 2250–2253. Published online 2010 Jul 13. doi: 10.2337/dc10-0452

PMCID:: PMC2945168

Abstract Article PDF–153K

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