PLEKHG4 gene

Known as: DKFZP434I216, pleckstrin homology and RhoGEF domain containing G4, puratrophin-1 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2005-2012
012320052012

Papers overview

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2013
2013
Mutations in the PLEKHG4 (puratrophin-1) gene are associated with the heritable neurological disorder autosomal dominant… (More)
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2012
2012
Computational prediction of biological networks would be a tremendous asset to systems biology and personalized medicine. In this… (More)
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2011
2011
Dominant optic atrophy (DOA) is genetically heterogeneous and pathogenic mutations have been identified in the OPA1 and OPA3… (More)
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2010
2010
Spinocerebellar ataxia type 31 (SCA31) is a recently defined subtype of autosomal dominant cerebellar ataxia (ADCA) characterized… (More)
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2010
2010
DFNB89 is a novel autosomal recessive nonsyndromic hearing impairment (ARNSHI) locus that was mapped to 16q21-q23.2. Linkage to… (More)
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2008
2008
JO N 2 77 1 C-to-T change resulted in reduced expression level of the gene. The puratrophin-1 protein was also shown to be… (More)
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2008
2008
The autosomal dominant spinocerebellar ataxias (SCA) are clinically and genetically heterogeneous group of debilitating… (More)
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2007
2006
2006
AbstractAutosomal dominant cerebellar ataxia (ADCA) is a genetically heterogeneous group of neurodegenerative disorders with… (More)
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2005
2005
Autosomal dominant cerebellar ataxia (ADCA) is a group of heterogeneous neurodegenerative disorders. By positional cloning, we… (More)
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