Literature DB >> 23337948

A mutation in NPAS3 segregates with mental illness in a small family.

L Yu1, N Arbez1, L G Nucifora1, G L Sell2, L E Delisi3, C A Ross4, R L Margolis5, F C Nucifora1.   

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Year:  2013        PMID： 23337948     DOI： 10.1038/mp.2012.192

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


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  13 in total

1.  A genome-wide scan for linkage to chromosomal regions in 382 sibling pairs with schizophrenia or schizoaffective disorder.

Authors:  Lynn E DeLisi; Sarah H Shaw; Timothy J Crow; Gail Shields; Angela B Smith; Veronica W Larach; Nigel Wellman; Josephine Loftus; Betsy Nanthakumar; Kamran Razi; John Stewart; Margherita Comazzi; Antonio Vita; Thomas Heffner; Robin Sherrington
Journal:  Am J Psychiatry       Date:  2002-05       Impact factor: 18.112

2.  A new isoleucine substitution of Val-20 in transthyretin tetramers selectively impairs dimer-dimer contacts and causes systemic amyloidosis.

Authors:  D E Jenne; K Denzel; P Blätzinger; P Winter; B Obermaier; R P Linke; K Altland
Journal:  Proc Natl Acad Sci U S A       Date:  1996-06-25       Impact factor: 11.205

3.  Transcriptional regulation of neurodevelopmental and metabolic pathways by NPAS3.

Authors:  L Sha; L MacIntyre; J A Machell; M P Kelly; D J Porteous; N J Brandon; W J Muir; D H Blackwood; D G Watson; S J Clapcote; B S Pickard
Journal:  Mol Psychiatry       Date:  2011-06-28       Impact factor: 15.992

4.  Characterization of npas3, a novel basic helix-loop-helix PAS gene expressed in the developing mouse nervous system.

Authors:  E W Brunskill; D P Witte; A B Shreiner; S S Potter
Journal:  Mech Dev       Date:  1999-11       Impact factor: 1.882

5.  Association of NPAS3 exonic variation with schizophrenia.

Authors:  Georgina Macintyre; Tyler Alford; Lan Xiong; Guy A Rouleau; Philip G Tibbo; Diane W Cox
Journal:  Schizophr Res       Date:  2010-05-14       Impact factor: 4.939

6.  Interacting haplotypes at the NPAS3 locus alter risk of schizophrenia and bipolar disorder.

Authors:  B S Pickard; A Christoforou; P A Thomson; A Fawkes; K L Evans; S W Morris; D J Porteous; D H Blackwood; W J Muir
Journal:  Mol Psychiatry       Date:  2008-03-04       Impact factor: 15.992

7.  Novel DNA binding by a basic helix-loop-helix protein. The role of the dioxin receptor PAS domain.

Authors:  Anne Chapman-Smith; Murray L Whitelaw
Journal:  J Biol Chem       Date:  2006-03-06       Impact factor: 5.157

8.  Clinical comparison of Alzheimer's disease in pedigrees with the codon 717 Val-->Ile mutation in the amyloid precursor protein gene.

Authors:  M Mullan; S Tsuji; T Miki; T Katsuya; S Naruse; K Kaneko; T Shimizu; T Kojima; I Nakano; T Ogihara
Journal:  Neurobiol Aging       Date:  1993 Sep-Oct       Impact factor: 4.673

9.  Disrupted-in-Schizophrenia-1 (DISC-1): mutant truncation prevents binding to NudE-like (NUDEL) and inhibits neurite outgrowth.

Authors:  Yuji Ozeki; Toshifumi Tomoda; John Kleiderlein; Atsushi Kamiya; Lyuda Bord; Kumiko Fujii; Masako Okawa; Naoto Yamada; Mary E Hatten; Solomon H Snyder; Christopher A Ross; Akira Sawa
Journal:  Proc Natl Acad Sci U S A       Date:  2002-12-27       Impact factor: 11.205

10.  Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.

Authors:  Manuel A R Ferreira; Michael C O'Donovan; Yan A Meng; Ian R Jones; Douglas M Ruderfer; Lisa Jones; Jinbo Fan; George Kirov; Roy H Perlis; Elaine K Green; Jordan W Smoller; Detelina Grozeva; Jennifer Stone; Ivan Nikolov; Kimberly Chambert; Marian L Hamshere; Vishwajit L Nimgaonkar; Valentina Moskvina; Michael E Thase; Sian Caesar; Gary S Sachs; Jennifer Franklin; Katherine Gordon-Smith; Kristin G Ardlie; Stacey B Gabriel; Christine Fraser; Brendan Blumenstiel; Matthew Defelice; Gerome Breen; Michael Gill; Derek W Morris; Amanda Elkin; Walter J Muir; Kevin A McGhee; Richard Williamson; Donald J MacIntyre; Alan W MacLean; Clair David St; Michelle Robinson; Margaret Van Beck; Ana C P Pereira; Radhika Kandaswamy; Andrew McQuillin; David A Collier; Nicholas J Bass; Allan H Young; Jacob Lawrence; I Nicol Ferrier; Adebayo Anjorin; Anne Farmer; David Curtis; Edward M Scolnick; Peter McGuffin; Mark J Daly; Aiden P Corvin; Peter A Holmans; Douglas H Blackwood; Hugh M Gurling; Michael J Owen; Shaun M Purcell; Pamela Sklar; Nick Craddock
Journal:  Nat Genet       Date:  2008-09       Impact factor: 38.330
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  10 in total

1.  Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes.

Authors:  Christina Halgren; Nete M Nielsen; Lusine Nazaryan-Petersen; Asli Silahtaroglu; Ryan L Collins; Chelsea Lowther; Susanne Kjaergaard; Morten Frisch; Maria Kirchhoff; Karen Brøndum-Nielsen; Allan Lind-Thomsen; Yuan Mang; Zahra El-Schich; Claire A Boring; Mana M Mehrjouy; Peter K A Jensen; Christina Fagerberg; Lotte N Krogh; Jan Hansen; Thue Bryndorf; Claus Hansen; Michael E Talkowski; Mads Bak; Niels Tommerup; Iben Bache
Journal:  Am J Hum Genet       Date:  2018-05-24       Impact factor: 11.025

2.  A Mutation in NPAS3 That Segregates with Schizophrenia in a Small Family Leads to Protein Aggregation.

Authors:  Leslie G Nucifora; YeeWen Candace Wu; Brian J Lee; Li Sha; Russell L Margolis; Christopher A Ross; Akira Sawa; Frederick C Nucifora
Journal:  Mol Neuropsychiatry       Date:  2016-07-27

3.  A fast-evolving human NPAS3 enhancer gained reporter expression in the developing forebrain of transgenic mice.

Authors:  Gretel B Kamm; Rodrigo López-Leal; Juan R Lorenzo; Lucía F Franchini
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  2013-11-11       Impact factor: 6.237

4.  An unpredicted aggregation-critical region of the actin-polymerizing protein TRIOBP-1/Tara, determined by elucidation of its domain structure.

Authors:  Nicholas J Bradshaw; Antony S K Yerabham; Rita Marreiros; Tao Zhang; Luitgard Nagel-Steger; Carsten Korth
Journal:  J Biol Chem       Date:  2017-04-24       Impact factor: 5.157

Review 5.  Protein misassembly and aggregation as potential convergence points for non-genetic causes of chronic mental illness.

Authors:  Nicholas J Bradshaw; Carsten Korth
Journal:  Mol Psychiatry       Date:  2018-08-08       Impact factor: 15.992

6.  NPAS3 Regulates Transcription and Expression of VGF: Implications for Neurogenesis and Psychiatric Disorders.

Authors:  Dongxue Yang; Wenbo Zhang; Arshad Padhiar; Yao Yue; Yonghui Shi; Tiezheng Zheng; Kaspar Davis; Yu Zhang; Min Huang; Yuyuan Li; Li Sha
Journal:  Front Mol Neurosci       Date:  2016-11-08       Impact factor: 5.639

7.  An interaction network of mental disorder proteins in neural stem cells.

Authors:  M J Moen; H H H Adams; J H Brandsma; D H W Dekkers; U Akinci; S Karkampouna; M Quevedo; C E M Kockx; Z Ozgür; W F J van IJcken; J Demmers; R A Poot
Journal:  Transl Psychiatry       Date:  2017-04-04       Impact factor: 6.222

8.  Molecular analysis of NPAS3 functional domains and variants.

Authors:  Leiah M Luoma; Fred B Berry
Journal:  BMC Mol Biol       Date:  2018-12-03       Impact factor: 2.946

9.  Molecular characterisation of rare loss-of-function NPAS3 and NPAS4 variants identified in individuals with neurodevelopmental disorders.

Authors:  Joseph J Rossi; Jill A Rosenfeld; Katie M Chan; Haley Streff; Victoria Nankivell; Daniel J Peet; Murray L Whitelaw; David C Bersten
Journal:  Sci Rep       Date:  2021-03-23       Impact factor: 4.996

10.  Classic selective sweeps revealed by massive sequencing in cattle.

Authors:  Saber Qanbari; Hubert Pausch; Sandra Jansen; Mehmet Somel; Tim M Strom; Ruedi Fries; Rasmus Nielsen; Henner Simianer
Journal:  PLoS Genet       Date:  2014-02-27       Impact factor: 5.917
  10 in total

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