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Literature DB >> 20479756

A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders.

A M Addington, J Gauthier, A Piton, F F Hamdan, A Raymond, N Gogtay, R Miller, J Tossell, J Bakalar, G Inoff-Germain, G Germain, P Gochman, R Long, J L Rapoport, G A Rouleau.

Abstract

Entities: Chemical Disease Gene Mutation Species

Mesh：

Substances：

Year: 2010 PMID： 20479756 PMCID： PMC3024438 DOI： 10.1038/mp.2010.59

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

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9 in total

1. Autism spectrum disorders and childhood-onset schizophrenia: clinical and biological contributions to a relation revisited.

Authors: Judith Rapoport; Alex Chavez; Deanna Greenstein; Anjene Addington; Nitin Gogtay
Journal: J Am Acad Child Adolesc Psychiatry Date: 2009-01 Impact factor: 8.829

2. Population analysis of large copy number variants and hotspots of human genetic disease.

Authors: Andy Itsara; Gregory M Cooper; Carl Baker; Santhosh Girirajan; Jun Li; Devin Absher; Ronald M Krauss; Richard M Myers; Paul M Ridker; Daniel I Chasman; Heather Mefford; Phyllis Ying; Deborah A Nickerson; Evan E Eichler
Journal: Am J Hum Genet Date: 2009-01-22 Impact factor: 11.025

3. Autism screening questionnaire: diagnostic validity.

Authors: S K Berument; M Rutter; C Lord; A Pickles; A Bailey
Journal: Br J Psychiatry Date: 1999-11 Impact factor: 9.319

Review 4. The neurodevelopmental model of schizophrenia: update 2005.

Authors: J L Rapoport; A M Addington; S Frangou; M R C Psych
Journal: Mol Psychiatry Date: 2005-05 Impact factor: 15.992

5. Novel de novo SHANK3 mutation in autistic patients.

Authors: Julie Gauthier; Dan Spiegelman; Amélie Piton; Ronald G Lafrenière; Sandra Laurent; Judith St-Onge; Line Lapointe; Fadi F Hamdan; Patrick Cossette; Laurent Mottron; Eric Fombonne; Ridha Joober; Claude Marineau; Pierre Drapeau; Guy A Rouleau
Journal: Am J Med Genet B Neuropsychiatr Genet Date: 2009-04-05 Impact factor: 3.568

6. Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.

Authors: Patrick S Tarpey; F Lucy Raymond; Lam S Nguyen; Jayson Rodriguez; Anna Hackett; Lucianne Vandeleur; Raffaella Smith; Cheryl Shoubridge; Sarah Edkins; Claire Stevens; Sarah O'Meara; Calli Tofts; Syd Barthorpe; Gemma Buck; Jennifer Cole; Kelly Halliday; Katy Hills; David Jones; Tatiana Mironenko; Janet Perry; Jennifer Varian; Sofie West; Sara Widaa; John Teague; Ed Dicks; Adam Butler; Andrew Menzies; David Richardson; Andrew Jenkinson; Rebecca Shepherd; Keiran Raine; Jenny Moon; Yin Luo; Josep Parnau; Shambhu S Bhat; Alison Gardner; Mark Corbett; Doug Brooks; Paul Thomas; Emma Parkinson-Lawrence; Mary E Porteous; John P Warner; Tracy Sanderson; Pauline Pearson; Richard J Simensen; Cindy Skinner; George Hoganson; Duane Superneau; Richard Wooster; Martin Bobrow; Gillian Turner; Roger E Stevenson; Charles E Schwartz; P Andrew Futreal; Anand K Srivastava; Michael R Stratton; Jozef Gécz
Journal: Nat Genet Date: 2007-08-19 Impact factor: 38.330

7. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.

Authors: R C Allen; H Y Zoghbi; A B Moseley; H M Rosenblatt; J W Belmont
Journal: Am J Hum Genet Date: 1992-12 Impact factor: 11.025

Review 8. The genetics of childhood-onset schizophrenia: when madness strikes the prepubescent.

Authors: Anjené M Addington; Judith L Rapoport
Journal: Curr Psychiatry Rep Date: 2009-04 Impact factor: 5.285

9. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

Authors: Heather C Mefford; Andrew J Sharp; Carl Baker; Andy Itsara; Zhaoshi Jiang; Karen Buysse; Shuwen Huang; Viv K Maloney; John A Crolla; Diana Baralle; Amanda Collins; Catherine Mercer; Koen Norga; Thomy de Ravel; Koen Devriendt; Ernie M H F Bongers; Nicole de Leeuw; William Reardon; Stefania Gimelli; Frederique Bena; Raoul C Hennekam; Alison Male; Lorraine Gaunt; Jill Clayton-Smith; Ingrid Simonic; Soo Mi Park; Sarju G Mehta; Serena Nik-Zainal; C Geoffrey Woods; Helen V Firth; Georgina Parkin; Marco Fichera; Santina Reitano; Mariangela Lo Giudice; Kelly E Li; Iris Casuga; Adam Broomer; Bernard Conrad; Markus Schwerzmann; Lorenz Räber; Sabina Gallati; Pasquale Striano; Antonietta Coppola; John L Tolmie; Edward S Tobias; Chris Lilley; Lluis Armengol; Yves Spysschaert; Patrick Verloo; Anja De Coene; Linde Goossens; Geert Mortier; Frank Speleman; Ellen van Binsbergen; Marcel R Nelen; Ron Hochstenbach; Martin Poot; Louise Gallagher; Michael Gill; Jon McClellan; Mary-Claire King; Regina Regan; Cindy Skinner; Roger E Stevenson; Stylianos E Antonarakis; Caifu Chen; Xavier Estivill; Björn Menten; Giorgio Gimelli; Susan Gribble; Stuart Schwartz; James S Sutcliffe; Tom Walsh; Samantha J L Knight; Jonathan Sebat; Corrado Romano; Charles E Schwartz; Joris A Veltman; Bert B A de Vries; Joris R Vermeesch; John C K Barber; Lionel Willatt; May Tassabehji; Evan E Eichler
Journal: N Engl J Med Date: 2008-09-10 Impact factor: 91.245

9 in total

48 in total

A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders.

1. Autism spectrum disorders and childhood-onset schizophrenia: clinical and biological contributions to a relation revisited.

2. Population analysis of large copy number variants and hotspots of human genetic disease.

3. Autism screening questionnaire: diagnostic validity.

Review 4. The neurodevelopmental model of schizophrenia: update 2005.

5. Novel de novo SHANK3 mutation in autistic patients.

6. Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.

7. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.

Review 8. The genetics of childhood-onset schizophrenia: when madness strikes the prepubescent.

9. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

1. A conserved microRNA/NMD regulatory circuit controls gene expression.

Review 2. Cellular reprogramming: a novel tool for investigating autism spectrum disorders.

Review 3. Nonsense-mediated mRNA decay: The challenge of telling right from wrong in a complex transcriptome.

Review 4. Genetics of childhood-onset schizophrenia.

5. The unfolded protein response is shaped by the NMD pathway.

Review 6. Risk factors for autism: translating genomic discoveries into diagnostics.

Review 7. Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms.

Review 8. Physiological and pathophysiological role of nonsense-mediated mRNA decay.

9. Generation of a Magoh conditional allele in mice.

Review 10. Nonsense-mediated mRNA decay: inter-individual variability and human disease.