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ANO5 gene

Known as: GDD1 GENE, TMEM16E, ANO5 
 
National Institutes of Health

Papers overview

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2015
2015
BackgroundAnoctamin 5 (ANO5) is a member of a conserved gene family (TMEM16), which codes for proteins predicted to have eight… Expand
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2014
2014
TMEM16E/GDD1 has been shown to be responsible for the bone-related late-onset disease gnathodiaphyseal dysplasia (GDD), with the… Expand
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2013
2013
Limb girdle muscular dystrophy type 2L or anoctaminopathy is a condition mainly characterized by adult onset proximal lower limb… Expand
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2012
2012
Objective: Description of 8 new ANO5 mutations and significant expansion of the clinical phenotype spectrum associated with… Expand
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Highly Cited
2011
Highly Cited
2011
The authors show that mutation of the rice gene encoding the kinesin-like protein BC12/GDD1 causes a significant reduction in the… Expand
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Highly Cited
2011
Highly Cited
2011
The limb-girdle muscular dystrophies are a group of disorders with wide genetic and clinical heterogeneity. Recently, mutations… Expand
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Highly Cited
2010
Highly Cited
2010
The recently described human anion channel Anoctamin (ANO) protein family comprises at least ten members, many of which have been… Expand
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Review
2009
Review
2009
Channelopathies, defined as diseases that are caused by mutations in genes encoding ion channels, are associated with a wide… Expand
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Highly Cited
2007
Highly Cited
2007
The human GDD1/TMEM16E gene has been found to be mutated in gnathodiaphyseal dysplasia, an unusual skeletal syndrome with… Expand
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Highly Cited
2004
Highly Cited
2004
Gnathodiaphyseal dysplasia (GDD) is a rare skeletal syndrome characterized by bone fragility, sclerosis of tubular bones, and… Expand
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