Literature DB >> 12070254

A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58.

F E Abidi, E Holinski-Feder, O Rittinger, F Kooy, H A Lubs, R E Stevenson, C E Schwartz.   

Abstract

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Year:  2002        PMID： 12070254      PMCID： PMC1735161          DOI： 10.1136/jmg.39.6.430

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  10 in total

1.  Validation of mRNA/EST-based gene predictions in human Xp11.4 revealed differences to the organization of the orthologous mouse locus.

Authors:  Gaiping Wen; Juliane Ramser; Stefan Taudien; Ulrike Gausmann; Karin Blechschmidt; Adam Frankish; Jennifer Ashurst; Alfons Meindl; Matthias Platzer
Journal:  Mamm Genome       Date:  2005-12-08       Impact factor: 2.957

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

3.  TSPAN7: A new player in excitatory synapse maturation and function.

Authors:  Silvia Bassani; Maria Passafaro
Journal:  Bioarchitecture       Date:  2012-05-01

4.  The X-linked intellectual disability protein TSPAN7 regulates excitatory synapse development and AMPAR trafficking.

Authors:  Silvia Bassani; Lorenzo A Cingolani; Pamela Valnegri; Alessandra Folci; Jonathan Zapata; Antonella Gianfelice; Carlo Sala; Yukiko Goda; Maria Passafaro
Journal:  Neuron       Date:  2012-03-21       Impact factor: 17.173

5.  Contiguous Xp11.4 Gene Deletion Leading to Ornithine Transcarbamylase Deficiency Detected by High-density Single-nucleotide Array.

Authors:  Mizuho Ono; Junnosuke Tsuda; Yoko Mouri; Junichi Arai; Tadao Arinami; Emiko Noguchi
Journal:  Clin Pediatr Endocrinol       Date:  2010-05-22

6.  TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation.

Authors:  Christiane Christophe-Hobertus; Frank Kooy; Jozef Gecz; Marc J Abramowicz; Elke Holinski-Feder; Charles Schwartz; Daniel Christophe
Journal:  BMC Med Genet       Date:  2004-09-02       Impact factor: 2.103

7.  Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplications and identification of a novel microduplication in ASMT.

Authors:  Guiqing Cai; Lisa Edelmann; Juliet E Goldsmith; Ninette Cohen; Alisa Nakamine; Jennifer G Reichert; Ellen J Hoffman; Danielle M Zurawiecki; Jeremy M Silverman; Eric Hollander; Latha Soorya; Evdokia Anagnostou; Catalina Betancur; Joseph D Buxbaum
Journal:  BMC Med Genomics       Date:  2008-10-16       Impact factor: 3.063

8.  Improved definition of the mouse transcriptome via targeted RNA sequencing.

Authors:  Giovanni Bussotti; Tommaso Leonardi; Michael B Clark; Tim R Mercer; Joanna Crawford; Lorenzo Malquori; Cedric Notredame; Marcel E Dinger; John S Mattick; Anton J Enright
Journal:  Genome Res       Date:  2016-05       Impact factor: 9.043

9.  Pharmacological Modulation of AMPAR Rescues Intellectual Disability-Like Phenotype in Tm4sf2-/y Mice.

Authors:  Luca Murru; Elena Vezzoli; Anna Longatti; Luisa Ponzoni; Andrea Falqui; Alessandra Folci; Edoardo Moretto; Veronica Bianchi; Daniela Braida; Mariaelvina Sala; Patrizia D'Adamo; Silvia Bassani; Maura Francolini; Maria Passafaro
Journal:  Cereb Cortex       Date:  2017-11-01       Impact factor: 5.357

Review 10.  Tetraspanins as Potential Modulators of Glutamatergic Synaptic Function.

Authors:  Amina Becic; Jennifer Leifeld; Javeria Shaukat; Michael Hollmann
Journal:  Front Mol Neurosci       Date:  2022-01-03       Impact factor: 5.639
  10 in total

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