Literature DB >> 25394356

A duplication of the whole KIAA2022 gene validates the gene role in the pathogenesis of intellectual disability and autism.

A Charzewska, S Rzońca, M Janeczko1, M Nawara2, M Smyk2, J Bal2, D Hoffman-Zacharska2.   

Abstract

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Year:  2014        PMID： 25394356     DOI： 10.1111/cge.12528

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


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  11 in total

1.  NEXMIF/KIDLIA Knock-out Mouse Demonstrates Autism-Like Behaviors, Memory Deficits, and Impairments in Synapse Formation and Function.

Authors:  James Gilbert; Margaret O'Connor; Sebastian Templet; Mahsa Moghaddam; Anaïs Di Via Ioschpe; Amanda Sinclair; Ling-Qiang Zhu; Weifeng Xu; Heng-Ye Man
Journal:  J Neurosci       Date:  2019-11-08       Impact factor: 6.167

2.  RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.

Authors:  Elizabeth E Palmer; Renee Carroll; Marie Shaw; Raman Kumar; Andre E Minoche; Melanie Leffler; Lucinda Murray; Rebecca Macintosh; Dale Wright; Chris Troedson; Fiona McKenzie; Sharron Townshend; Michelle Ward; Urwah Nawaz; Anja Ravine; Cassandra K Runke; Erik C Thorland; Marybeth Hummel; Nicola Foulds; Olivier Pichon; Bertrand Isidor; Cédric Le Caignec; Bénédicte Demeer; Joris Andrieux; Salam Hadah Albarazi; Ann Bye; Rani Sachdev; Edwin P Kirk; Mark J Cowley; Mike Field; Jozef Gecz
Journal:  Am J Hum Genet       Date:  2020-11-06       Impact factor: 11.025

3.  Clonazepam as an Effective Treatment for Epilepsy in a Female Patient with NEXMIF Mutation: Case Report.

Authors:  Masashi Ogasawara; Eiji Nakagawa; Eri Takeshita; Kohei Hamanaka; Satoko Miyatake; Naomichi Matsumoto; Masayuki Sasaki
Journal:  Mol Syndromol       Date:  2020-09-01

4.  Torpedo Maculopathy Associated with NEXMIF Mutation.

Authors:  Tuğba Alarcon-Martinez; Ayesha Khan; Kenneth A Myers
Journal:  Mol Syndromol       Date:  2019-03-15

5.  Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother.

Authors:  Nelle Lambert; Corinne Dauve; Emmanuelle Ranza; Periklis Makrythanasis; Federico Santoni; Frédérique Sloan-Béna; Stefania Gimelli; Jean-Louis Blouin; Michel Guipponi; Armand Bottani; Stylianos E Antonarakis; Markus M Kosel; Joel Fluss; Ariane Paoloni-Giacobino
Journal:  J Hum Genet       Date:  2018-05-01       Impact factor: 3.172

6.  The X-Linked Autism Protein KIAA2022/KIDLIA Regulates Neurite Outgrowth via N-Cadherin and δ-Catenin Signaling.

Authors:  James Gilbert; Heng-Ye Man
Journal:  eNeuro       Date:  2016-10-28

Review 7.  Fundamental Elements in Autism: From Neurogenesis and Neurite Growth to Synaptic Plasticity.

Authors:  James Gilbert; Heng-Ye Man
Journal:  Front Cell Neurosci       Date:  2017-11-20       Impact factor: 5.505

8.  De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.

Authors:  Iris M de Lange; Katherine L Helbig; Sarah Weckhuysen; Rikke S Møller; Milen Velinov; Natalia Dolzhanskaya; Eric Marsh; Ingo Helbig; Orrin Devinsky; Sha Tang; Heather C Mefford; Candace T Myers; Wim van Paesschen; Pasquale Striano; Koen van Gassen; Marjan van Kempen; Carolien G F de Kovel; Juliette Piard; Berge A Minassian; Marjan M Nezarati; André Pessoa; Aurelia Jacquette; Bridget Maher; Simona Balestrini; Sanjay Sisodiya; Marie Therese Abi Warde; Anne De St Martin; Jamel Chelly; Ruben van 't Slot; Lionel Van Maldergem; Eva H Brilstra; Bobby P C Koeleman
Journal:  J Med Genet       Date:  2016-06-29       Impact factor: 6.318

9.  miR‑425‑5p is associated with poor prognosis in patients with breast cancer and promotes cancer cell progression by targeting PTEN.

Authors:  Sheng Xiao; Hongjia Zhu; Jian Luo; Zhenru Wu; Mingjun Xie
Journal:  Oncol Rep       Date:  2019-10-14       Impact factor: 3.906

10.  Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability.

Authors:  Sepideh Mehvari; Farzaneh Larti; Hao Hu; Zohreh Fattahi; Maryam Beheshtian; Seyedeh Sedigheh Abedini; Sanaz Arzhangi; Hans-Hilger Ropers; Vera M Kalscheuer; Daniel Auld; Kimia Kahrizi; Yasser Riazalhosseini; Hossein Najmabadi
Journal:  Mol Genet Genomic Med       Date:  2020-07-26       Impact factor: 2.183
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