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Literature DB >> 21251811

Genetic modifiers of neurological disease.

Abstract

Genetic modifiers make an important contribution to neurological disease phenotypes. Significant progress has been made by studying genetic modifiers in model organisms. The ability to study complex genetic interactions in model systems contributes to our understanding of the genetic factors that influence neurological disease. This will lead to the development of novel therapeutic strategies and personalized treatment based on genetic risk.

Entities: Chemical Disease Gene Mutation Species

Mesh：

Substances：

Year: 2011 PMID： 21251811 PMCID： PMC3105121 DOI： 10.1016/j.gde.2010.12.007

Source DB: PubMed Journal: Curr Opin Genet Dev ISSN： 0959-437X Impact factor: 5.578

54 in total

1. Mutation detection in the med and medJ alleles of the sodium channel Scn8a. Unusual splicing due to a minor class AT-AC intron.

Authors: D C Kohrman; J B Harris; M H Meisler
Journal: J Biol Chem Date: 1996-07-19 Impact factor: 5.157

2. Progressive aggregation despite chaperone associations of a mutant SOD1-YFP in transgenic mice that develop ALS.

Authors: Jiou Wang; George W Farr; Caroline J Zeiss; Diego J Rodriguez-Gil; Jean H Wilson; Krystyna Furtak; D Thomas Rutkowski; Randal J Kaufman; Cristian I Ruse; John R Yates; Steve Perrin; Mel B Feany; Arthur L Horwich
Journal: Proc Natl Acad Sci U S A Date: 2009-01-26 Impact factor: 11.205

3. Comparative analysis of genetic modifiers in Drosophila points to common and distinct mechanisms of pathogenesis among polyglutamine diseases.

Authors: Joana Branco; Ismael Al-Ramahi; Lubna Ukani; Alma M Pérez; Pedro Fernandez-Funez; Diego Rincón-Limas; Juan Botas
Journal: Hum Mol Genet Date: 2007-11-05 Impact factor: 6.150

4. Identification of loci determining susceptibility to the lethal effects of amyloid precursor protein transgene overexpression.

Authors: Joseph Krezowski; Danielle Knudson; Christine Ebeling; Rose Pitstick; Ranjit K Giri; Dale Schenk; David Westaway; Linda Younkin; Steven G Younkin; Karen Hsiao Ashe; George A Carlson
Journal: Hum Mol Genet Date: 2004-07-14 Impact factor: 6.150

5. VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death.

Authors: Diether Lambrechts; Erik Storkebaum; Masafumi Morimoto; Jurgen Del-Favero; Frederik Desmet; Stefan L Marklund; Sabine Wyns; Vincent Thijs; Jörgen Andersson; Ingrid van Marion; Ammar Al-Chalabi; Stephanie Bornes; Rhiannon Musson; Valerie Hansen; Lars Beckman; Rolf Adolfsson; Hardev Singh Pall; Hervé Prats; Severine Vermeire; Paul Rutgeerts; Shigehiro Katayama; Takuya Awata; Nigel Leigh; Loïc Lang-Lazdunski; Mieke Dewerchin; Christopher Shaw; Lieve Moons; Robert Vlietinck; Karen E Morrison; Wim Robberecht; Christine Van Broeckhoven; Désiré Collen; Peter M Andersen; Peter Carmeliet
Journal: Nat Genet Date: 2003-08 Impact factor: 38.330

6. Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease.

Authors: L Djoussé; B Knowlton; M Hayden; E W Almqvist; R Brinkman; C Ross; R Margolis; A Rosenblatt; A Durr; C Dode; P J Morrison; A Novelletto; M Frontali; R J A Trent; E McCusker; E Gómez-Tortosa; D Mayo; R Jones; A Zanko; M Nance; R Abramson; O Suchowersky; J Paulsen; M Harrison; Q Yang; L A Cupples; J F Gusella; M E MacDonald; R H Myers
Journal: Am J Med Genet A Date: 2003-06-15 Impact factor: 2.802

7. A targeted deleterious allele of the splicing factor SCNM1 in the mouse.

Authors: Viive M Howell; Georgius de Haan; Sarah Bergren; Julie M Jones; Cymbeline T Culiat; Edward J Michaud; Wayne N Frankel; Miriam H Meisler
Journal: Genetics Date: 2008-09-14 Impact factor: 4.562

8. Bridging high-throughput genetic and transcriptional data reveals cellular responses to alpha-synuclein toxicity.

Authors: Esti Yeger-Lotem; Laura Riva; Linhui Julie Su; Aaron D Gitler; Anil G Cashikar; Oliver D King; Pavan K Auluck; Melissa L Geddie; Julie S Valastyan; David R Karger; Susan Lindquist; Ernest Fraenkel
Journal: Nat Genet Date: 2009-02-22 Impact factor: 38.330

Review 9. Neurodegenerative diseases: Lessons from genome-wide screens in small model organisms.

Authors: Tjakko J van Ham; Rainer Breitling; Morris A Swertz; Ellen A A Nollen
Journal: EMBO Mol Med Date: 2009-11 Impact factor: 12.137

10. The Human Gene Mutation Database: 2008 update.

Authors: Peter D Stenson; Matthew Mort; Edward V Ball; Katy Howells; Andrew D Phillips; Nick St Thomas; David N Cooper
Journal: Genome Med Date: 2009-01-22 Impact factor: 11.117

20 in total

1. Integration of H-2Z1, a somatosensory cortex-expressed transgene, interferes with the expression of the Satb1 and Tbc1d5 flanking genes and affects the differentiation of a subset of cortical interneurons.

Authors: Nicolas Narboux-Nême; Rosette Goïame; Marie-Geneviève Mattéi; Michel Cohen-Tannoudji; Marion Wassef
Journal: J Neurosci Date: 2012-05-23 Impact factor: 6.167

Review 2. Advances in reprogramming-based study of neurologic disorders.

Authors: Anjana Nityanandam; Kristin K Baldwin
Journal: Stem Cells Dev Date: 2015-04-06 Impact factor: 3.272

3. Scn2a deletion improves survival and brain-heart dynamics in the Kcna1-null mouse model of sudden unexpected death in epilepsy (SUDEP).

Authors: Vikas Mishra; Bharat K Karumuri; Nicole M Gautier; Rui Liu; Timothy N Hutson; Stephanie L Vanhoof-Villalba; Ioannis Vlachos; Leonidas Iasemidis; Edward Glasscock
Journal: Hum Mol Genet Date: 2017-06-01 Impact factor: 6.150

4. Phenotypic and Genotypic Characteristics of SCN1A Associated Seizure Diseases.

Authors: Chunhong Chen; Fang Fang; Xu Wang; Junlan Lv; Xiaohui Wang; Hong Jin
Journal: Front Mol Neurosci Date: 2022-04-28 Impact factor: 5.639

5. CaMKII Inhibition Attenuates Distinct Gain-of-Function Effects Produced by Mutant Nav1.6 Channels and Reduces Neuronal Excitability.

Authors: Agnes S Zybura; Firoj K Sahoo; Andy Hudmon; Theodore R Cummins
Journal: Cells Date: 2022-07-04 Impact factor: 7.666

6. Strain- and age-dependent hippocampal neuron sodium currents correlate with epilepsy severity in Dravet syndrome mice.

Authors: Akshitkumar M Mistry; Christopher H Thompson; Alison R Miller; Carlos G Vanoye; Alfred L George; Jennifer A Kearney
Journal: Neurobiol Dis Date: 2014-01-14 Impact factor: 5.996

7. Identification of common genetic modifiers of neurodegenerative diseases from an integrative analysis of diverse genetic screens in model organisms.

Authors: Xi Chen; Robert D Burgoyne
Journal: BMC Genomics Date: 2012-02-14 Impact factor: 3.969