Literature DB >> 18005360

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, S Ladd, F Grass, J E Spence, C K Brasington, R J Simensen, C E Schwartz, B R Dupont, R E Stevenson, A K Srivastava.   

Abstract

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Year:  2007        PMID： 18005360     DOI： 10.1111/j.1399-0004.2007.00920.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  17 in total

Review 1.  Protein tyrosine phosphatases PTPδ, PTPσ, and LAR: presynaptic hubs for synapse organization.

Authors:  Hideto Takahashi; Ann Marie Craig
Journal:  Trends Neurosci       Date:  2013-07-05       Impact factor: 13.837

Review 2.  Developmental vulnerability of synapses and circuits associated with neuropsychiatric disorders.

Authors:  Peter Penzes; Andres Buonanno; Maria Passafaro; Carlo Sala; Robert A Sweet
Journal:  J Neurochem       Date:  2013-05-22       Impact factor: 5.372

Review 3.  Current Understanding of the Role of Neuronal Calcium Sensor 1 in Neurological Disorders.

Authors:  Julia Bandura; Zhong-Ping Feng
Journal:  Mol Neurobiol       Date:  2019-02-04       Impact factor: 5.590

Review 4.  Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms.

Authors:  Anand K Srivastava; Charles E Schwartz
Journal:  Neurosci Biobehav Rev       Date:  2014-04-04       Impact factor: 8.989

Review 5.  Immune mediators in the brain and peripheral tissues in autism spectrum disorder.

Authors:  Myka L Estes; A Kimberley McAllister
Journal:  Nat Rev Neurosci       Date:  2015-08       Impact factor: 34.870

6.  The X-Linked Intellectual Disability Protein IL1RAPL1 Regulates Dendrite Complexity.

Authors:  Caterina Montani; Mariana Ramos-Brossier; Luisa Ponzoni; Laura Gritti; Andrzej W Cwetsch; Daniela Braida; Yoann Saillour; Benedetta Terragni; Massimo Mantegazza; Mariaelvina Sala; Chiara Verpelli; Pierre Billuart; Carlo Sala
Journal:  J Neurosci       Date:  2017-06-02       Impact factor: 6.167

7.  Structural and functional deficits in a neuronal calcium sensor-1 mutant identified in a case of autistic spectrum disorder.

Authors:  Mark T W Handley; Lu-Yun Lian; Lee P Haynes; Robert D Burgoyne
Journal:  PLoS One       Date:  2010-05-07       Impact factor: 3.240

8.  A central nervous system-restricted isoform of the interleukin-1 receptor accessory protein modulates neuronal responses to interleukin-1.

Authors:  Dirk E Smith; Brian P Lipsky; Chris Russell; Randal R Ketchem; Jacqueline Kirchner; Kelly Hensley; Yangyang Huang; Wilma J Friedman; Vincent Boissonneault; Marie-Michèle Plante; Serge Rivest; John E Sims
Journal:  Immunity       Date:  2009-05-28       Impact factor: 31.745

9.  Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.

Authors:  Abdul Noor; Annabel Whibley; Christian R Marshall; Peter J Gianakopoulos; Amelie Piton; Andrew R Carson; Marija Orlic-Milacic; Anath C Lionel; Daisuke Sato; Dalila Pinto; Irene Drmic; Carolyn Noakes; Lili Senman; Xiaoyun Zhang; Rong Mo; Julie Gauthier; Jennifer Crosbie; Alistair T Pagnamenta; Jeffrey Munson; Annette M Estes; Andreas Fiebig; Andre Franke; Stefan Schreiber; Alexandre F R Stewart; Robert Roberts; Ruth McPherson; Stephen J Guter; Edwin H Cook; Geraldine Dawson; Gerard D Schellenberg; Agatino Battaglia; Elena Maestrini; Linda Jeng; Terry Hutchison; Evica Rajcan-Separovic; Albert E Chudley; Suzanne M E Lewis; Xudong Liu; Jeanette J Holden; Bridget Fernandez; Lonnie Zwaigenbaum; Susan E Bryson; Wendy Roberts; Peter Szatmari; Louise Gallagher; Michael R Stratton; Jozef Gecz; Angela F Brady; Charles E Schwartz; Russell J Schachar; Anthony P Monaco; Guy A Rouleau; Chi-Chung Hui; F Lucy Raymond; Stephen W Scherer; John B Vincent
Journal:  Sci Transl Med       Date:  2010-09-15       Impact factor: 17.956

10.  Whole genome sequencing of nearly isogenic WMI and WLI inbred rats identifies genes potentially involved in depression and stress reactivity.

Authors:  Tristan V de Jong; Panjun Kim; Victor Guryev; Megan K Mulligan; Robert W Williams; Eva E Redei; Hao Chen
Journal:  Sci Rep       Date:  2021-07-20       Impact factor: 4.996
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