ANO5 gene

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

Topic mentions per year

Topic mentions per year

2004-2017
024620042017

Papers overview

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2016
2016
Limb-girdle muscular dystrophies are a genetically diverse group of diseases characterized by chronic muscle wasting and weakness… (More)
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2015
2015
We studied 786 undiagnosed patients with LGMD or nonspecific myopathic features to investigate the role of ANO5 mutations in limb… (More)
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2013
2013
BACKGROUND AND PURPOSE Anoctamin 5 (ANO5) is a putative intracellular calcium-activated chloride channel. Recessive mutations in… (More)
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2013
2013
Gnathodiaphyseal dysplasia (GDD) is an autosomal dominant syndrome characterized by frequent bone fractures at a young age… (More)
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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… (More)
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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… (More)
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Highly Cited
2008
Highly Cited
2008
Calcium-activated chloride channels (CaCCs) are major regulators of sensory transduction, epithelial secretion, and smooth muscle… (More)
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2007
2007
The human GDD1/TMEM16E gene has been found to be mutated in gnathodiaphyseal dysplasia, an unusual skeletal syndrome with… (More)
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2005
2005
Mutations in the GDD1 gene cause gnathodiaphyseal dysplasia, a rare human skeletal syndrome with autosomal dominant inheritance… (More)
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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… (More)
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