Literature DB >> 26303661

The role of SHANK2 rare variants in schizophrenia susceptibility.

J Costas1.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2015        PMID： 26303661     DOI： 10.1038/mp.2015.119

Source DB:  PubMed          Journal:  Mol Psychiatry        ISSN： 1359-4184            Impact factor:   15.992


× No keyword cloud information.
  7 in total

1.  Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.

Authors:  Simone Berkel; Christian R Marshall; Birgit Weiss; Jennifer Howe; Ralph Roeth; Ute Moog; Volker Endris; Wendy Roberts; Peter Szatmari; Dalila Pinto; Michael Bonin; Angelika Riess; Hartmut Engels; Rolf Sprengel; Stephen W Scherer; Gudrun A Rappold
Journal:  Nat Genet       Date:  2010-05-16       Impact factor: 38.330

2.  Defining rare variants by their frequencies in controls may increase type I error.

Authors:  Mathieu Lemire
Journal:  Nat Genet       Date:  2011-05       Impact factor: 38.330

3.  Bias due to selection of rare variants using frequency in controls.

Authors:  Richard D Pearson
Journal:  Nat Genet       Date:  2011-05       Impact factor: 38.330

4.  Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies.

Authors:  Seunggeun Lee; Mary J Emond; Michael J Bamshad; Kathleen C Barnes; Mark J Rieder; Deborah A Nickerson; David C Christiani; Mark M Wurfel; Xihong Lin
Journal:  Am J Hum Genet       Date:  2012-08-02       Impact factor: 11.025

5.  Sequence kernel association tests for the combined effect of rare and common variants.

Authors:  Iuliana Ionita-Laza; Seunggeun Lee; Vlad Makarov; Joseph D Buxbaum; Xihong Lin
Journal:  Am J Hum Genet       Date:  2013-05-16       Impact factor: 11.025

6.  Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.

Authors:  Claire S Leblond; Jutta Heinrich; Richard Delorme; Christian Proepper; Catalina Betancur; Guillaume Huguet; Marina Konyukh; Pauline Chaste; Elodie Ey; Maria Rastam; Henrik Anckarsäter; Gudrun Nygren; I Carina Gillberg; Jonas Melke; Roberto Toro; Beatrice Regnault; Fabien Fauchereau; Oriane Mercati; Nathalie Lemière; David Skuse; Martin Poot; Richard Holt; Anthony P Monaco; Irma Järvelä; Katri Kantojärvi; Raija Vanhala; Sarah Curran; David A Collier; Patrick Bolton; Andreas Chiocchetti; Sabine M Klauck; Fritz Poustka; Christine M Freitag; Regina Waltes; Marnie Kopp; Eftichia Duketis; Elena Bacchelli; Fiorella Minopoli; Liliana Ruta; Agatino Battaglia; Luigi Mazzone; Elena Maestrini; Ana F Sequeira; Barbara Oliveira; Astrid Vicente; Guiomar Oliveira; Dalila Pinto; Stephen W Scherer; Diana Zelenika; Marc Delepine; Mark Lathrop; Dominique Bonneau; Vincent Guinchat; Françoise Devillard; Brigitte Assouline; Marie-Christine Mouren; Marion Leboyer; Christopher Gillberg; Tobias M Boeckers; Thomas Bourgeron
Journal:  PLoS Genet       Date:  2012-02-09       Impact factor: 5.917

7.  An integrated map of genetic variation from 1,092 human genomes.

Authors:  Goncalo R Abecasis; Adam Auton; Lisa D Brooks; Mark A DePristo; Richard M Durbin; Robert E Handsaker; Hyun Min Kang; Gabor T Marth; Gil A McVean
Journal:  Nature       Date:  2012-11-01       Impact factor: 49.962
  7 in total
  8 in total

1.  Cell-Type-Specific Shank2 Deletion in Mice Leads to Differential Synaptic and Behavioral Phenotypes.

Authors:  Ryunhee Kim; Jihye Kim; Changuk Chung; Seungmin Ha; Seungjoon Lee; Eunee Lee; Ye-Eun Yoo; Woohyun Kim; Wangyong Shin; Eunjoon Kim
Journal:  J Neurosci       Date:  2018-03-23       Impact factor: 6.167

2.  Early Correction of N-Methyl-D-Aspartate Receptor Function Improves Autistic-like Social Behaviors in Adult Shank2-/- Mice.

Authors:  Changuk Chung; Seungmin Ha; Hyojin Kang; Jiseok Lee; Seung Min Um; Haidun Yan; Ye-Eun Yoo; Taesun Yoo; Hwajin Jung; Dongwon Lee; Eunee Lee; Seungjoon Lee; Jihye Kim; Ryunhee Kim; Yonghan Kwon; Woohyun Kim; Hyosang Kim; Lara Duffney; Doyoun Kim; Won Mah; Hyejung Won; Seojung Mo; Jin Yong Kim; Chae-Seok Lim; Bong-Kiun Kaang; Tobias M Boeckers; Yeonseung Chung; Hyun Kim; Yong-Hui Jiang; Eunjoon Kim
Journal:  Biol Psychiatry       Date:  2018-10-09       Impact factor: 13.382

3.  Deficiency of Shank2 causes mania-like behavior that responds to mood stabilizers.

Authors:  Andrea L Pappas; Alexandra L Bey; Xiaoming Wang; Mark Rossi; Yong Ho Kim; Haidun Yan; Fiona Porkka; Lara J Duffney; Samantha M Phillips; Xinyu Cao; Jin-Dong Ding; Ramona M Rodriguiz; Henry H Yin; Richard J Weinberg; Ru-Rong Ji; William C Wetsel; Yong-Hui Jiang
Journal:  JCI Insight       Date:  2017-10-19

4.  Shank2 Deletion in Parvalbumin Neurons Leads to Moderate Hyperactivity, Enhanced Self-Grooming and Suppressed Seizure Susceptibility in Mice.

Authors:  Seungjoon Lee; Eunee Lee; Ryunhee Kim; Jihye Kim; Suho Lee; Haram Park; Esther Yang; Hyun Kim; Eunjoon Kim
Journal:  Front Mol Neurosci       Date:  2018-06-19       Impact factor: 5.639

5.  meQTL and ncRNA functional analyses of 102 GWAS-SNPs associated with depression implicate HACE1 and SHANK2 genes.

Authors:  Diana M Ciuculete; Sarah Voisin; Lara Kular; Jörgen Jonsson; Mathias Rask-Andersen; Jessica Mwinyi; Helgi B Schiöth
Journal:  Clin Epigenetics       Date:  2020-07-02       Impact factor: 6.551

6.  Activation of the medial preoptic area (MPOA) ameliorates loss of maternal behavior in a Shank2 mouse model for autism.

Authors:  Stefanie Grabrucker; Jessica Pagano; Johanna Schweizer; Carolina Urrutia-Ruiz; Michael Schön; Kevin Thome; Günter Ehret; Andreas M Grabrucker; Rong Zhang; Bastian Hengerer; Jürgen Bockmann; Chiara Verpelli; Carlo Sala; Tobias M Boeckers
Journal:  EMBO J       Date:  2021-01-25       Impact factor: 11.598

7.  Enhanced fear limits behavioral flexibility in Shank2-deficient mice.

Authors:  Miru Yun; Eunjoon Kim; Min Whan Jung
Journal:  Mol Autism       Date:  2022-10-03       Impact factor: 6.476

8.  Gene Dosage- and Age-Dependent Differential Transcriptomic Changes in the Prefrontal Cortex of Shank2-Mutant Mice.

Authors:  Seungjoon Lee; Hyojin Kang; Hwajin Jung; Eunjoon Kim; Eunee Lee
Journal:  Front Mol Neurosci       Date:  2021-06-11       Impact factor: 5.639
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.