University of Groningen De Novo Loss-of-Function Mutations in USP 9 X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

[1]  Alejandro Sifrim,et al.  Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data , 2015, The Lancet.

[2]  G. Carvill,et al.  Seizures Are Regulated by Ubiquitin-specific Peptidase 9 X-linked (USP9X), a De-Ubiquitinase , 2015, PLoS genetics.

[3]  J. Gécz,et al.  La FAM fatale: USP9X in development and disease , 2015, Cellular and Molecular Life Sciences.

[4]  K. Friend,et al.  X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes , 2015, Molecular Psychiatry.

[5]  Carolyn J. Brown,et al.  Landscape of DNA methylation on the X chromosome reflects CpG density, functional chromatin state and X-chromosome inactivation , 2014, Human molecular genetics.

[6]  Boris Yamrom,et al.  The contribution of de novo coding mutations to autism spectrum disorder , 2014, Nature.

[7]  Carolyn J. Brown,et al.  Variable escape from X-chromosome inactivation: Identifying factors that tip the scales towards expression , 2014, BioEssays : news and reviews in molecular, cellular and developmental biology.

[8]  C. Disteche,et al.  X chromosome regulation: diverse patterns in development, tissues and disease , 2014, Nature Reviews Genetics.

[9]  S. Rozen,et al.  Massively Parallel Sequencing of Patients with Intellectual Disability, Congenital Anomalies and/or Autism Spectrum Disorders with a Targeted Gene Panel , 2014, PloS one.

[10]  E. Haan,et al.  Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth. , 2014, American journal of human genetics.

[11]  Tiziana Franchin,et al.  Diagnosis of Noonan syndrome and related disorders using target next generation sequencing , 2014, BMC Medical Genetics.

[12]  A. V. Vulto-van Silfhout,et al.  Clinical Significance of De Novo and Inherited Copy‐Number Variation , 2013, Human mutation.

[13]  D. Horn,et al.  A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype , 2013, Journal of Medical Genetics.

[14]  Claire Redin,et al.  XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. , 2013, American journal of human genetics.

[15]  J. Gécz,et al.  Loss of Usp9x Disrupts Cortical Architecture, Hippocampal Development and TGFβ-Mediated Axonogenesis , 2013, PloS one.

[16]  P. Stankiewicz,et al.  Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing , 2013, European Journal of Human Genetics.

[17]  R. Reading,et al.  Diagnostic exome sequencing in persons with severe intellectual disability , 2013 .

[18]  M. Kirschner,et al.  Deubiquitinase FAM/USP9X Interacts with the E3 Ubiquitin Ligase SMURF1 Protein and Protects It from Ligase Activity-dependent Self-degradation , 2012, The Journal of Biological Chemistry.

[19]  T. Sixma,et al.  The role of UBL domains in ubiquitin-specific proteases. , 2012, Biochemical Society transactions.

[20]  R. E. Hughes,et al.  Ubiquitin-specific Peptidase 9, X-linked (USP9X) Modulates Activity of Mammalian Target of Rapamycin (mTOR)* , 2012, The Journal of Biological Chemistry.

[21]  R. Stevenson,et al.  Fragile X and X-linked intellectual disability: four decades of discovery. , 2012, American journal of human genetics.

[22]  S. Ware,et al.  Spectrum of clinical diseases caused by disorders of primary cilia. , 2011, Proceedings of the American Thoracic Society.

[23]  C. Disteche,et al.  Genes that escape from X inactivation , 2011, Human Genetics.

[24]  Carolyn J. Brown,et al.  X-chromosome inactivation: molecular mechanisms from the human perspective , 2011, Human Genetics.

[25]  P. Nuciforo,et al.  An Atlas of Altered Expression of Deubiquitinating Enzymes in Human Cancer , 2011, PloS one.

[26]  M. Shaw,et al.  Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability. , 2010, American journal of human genetics.

[27]  Andrew Menzies,et al.  A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation , 2009, Nature Genetics.

[28]  V. Taylor,et al.  USP9X enhances the polarity and self-renewal of embryonic stem cell-derived neural progenitors. , 2009, Molecular biology of the cell.

[29]  Leonardo Morsut,et al.  FAM/USP9x, a Deubiquitinating Enzyme Essential for TGFβ Signaling, Controls Smad4 Monoubiquitination , 2009, Cell.

[30]  B. Franco,et al.  Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders , 2008, Journal of Medical Genetics.

[31]  D. Alessi,et al.  Control of AMPK-related kinases by USP9X and atypical Lys(29)/Lys(33)-linked polyubiquitin chains. , 2008, The Biochemical journal.

[32]  M. Lardelli,et al.  Evolutionary and expression analysis of the zebrafish deubiquitylating enzyme, usp9. , 2007, Zebrafish.

[33]  P. McPherson,et al.  The Ubiquitin Ligase Itch Is Auto-ubiquitylated in Vivo and in Vitro but Is Protected from Degradation by Interacting with the Deubiquitylating Enzyme FAM/USP9X* , 2006, Journal of Biological Chemistry.

[34]  Zohreh Talebizadeh,et al.  X chromosome gene expression in human tissues: male and female comparisons. , 2006, Genomics.

[35]  A. Arnold,et al.  Sexually dimorphic expression of Usp9x is related to sex chromosome complement in adult mouse brain , 2005, The European journal of neuroscience.

[36]  H. Willard,et al.  X-inactivation profile reveals extensive variability in X-linked gene expression in females , 2005, Nature.

[37]  J. Chelly,et al.  Doublecortin interacts with the ubiquitin protease DFFRX, which associates with microtubules in neuronal processes , 2005, Molecular and Cellular Neuroscience.

[38]  S. Wood,et al.  The FAM deubiquitylating enzyme localizes to multiple points of protein trafficking in epithelia, where it associates with E-cadherin and beta-catenin. , 2004, Molecular biology of the cell.

[39]  S. Brenner,et al.  Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans , 2002, Proceedings of the National Academy of Sciences of the United States of America.

[40]  John S. Mattick,et al.  The Ras Target AF-6 is a Substrate of the Fam Deubiquitinating Enzyme , 1998, The Journal of cell biology.

[41]  L. Maquat,et al.  A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance. , 1998, Trends in biochemical sciences.

[42]  J. Mattick,et al.  Cloning and expression analysis of a novel mouse gene with sequence similarity to the Drosophila fat facets gene , 1997, Mechanisms of Development.

[43]  M. Jones,et al.  The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2. , 1996, Human molecular genetics.

[44]  G. Rubin,et al.  The fat facets gene is required for Drosophila eye and embryo development. , 1992, Development.

[45]  I. Vorobjev,et al.  Centrioles in the cell cycle. I. Epithelial cells , 1982, The Journal of cell biology.

[46]  A. Pardee,et al.  Centriole ciliation is related to quiescence and DNA synthesis in 3T3 cells , 1979, Cell.

[47]  K. Kaibuchi,et al.  The deubiquitinating enzyme Fam interacts with and stabilizes beta-catenin. , 1999, Genes to cells : devoted to molecular & cellular mechanisms.