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ANO5 gene

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

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Related topics

1 relation
ANO6 gene

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
TMEM16E/ANO5 mutations related to bone dysplasia or muscular dystrophy cause opposite effects on lipid scrambling
Mutations in the human TMEM16E/ANO5 gene are causative for gnathodiaphyseal dysplasia (GDD), a rare bone malformation and… 
2014
2014
Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies
Highly Cited
2013
Highly Cited
2013
Dilated cardiomyopathy in patients with mutations in anoctamin 5.
Highly Cited
2013
Highly Cited
2013
ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation
Limb girdle muscular dystrophy type 2L or anoctaminopathy is a condition mainly characterized by adult onset proximal lower limb… 
Highly Cited
2013
Highly Cited
2013
ANO5‐muscular dystrophy: clinical, pathological and molecular findings
Anoctamin 5 (ANO5) is a putative intracellular calcium‐activated chloride channel. Recessive mutations in ANO5 cause primary… 
Highly Cited
2012
Highly Cited
2012
Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients
Highly Cited
2011
Highly Cited
2011
Mutation of Rice BC12/GDD1, Which Encodes a Kinesin-Like Protein That Binds to a GA Biosynthesis Gene Promoter, Leads to Dwarfism with Impaired Cell Elongation[W][OA]
The authors show that mutation of the rice gene encoding the kinesin-like protein BC12/GDD1 causes a significant reduction in the… 
Highly Cited
2011
Highly Cited
2011
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.
The limb-girdle muscular dystrophies are a group of disorders with wide genetic and clinical heterogeneity. Recently, mutations… 
Highly Cited
2010
Highly Cited
2010
A new distal myopathy with mutation in anoctamin 5
Highly Cited
2007
Highly Cited
2007
Molecular characterization of GDD1/TMEM16E, the gene product responsible for autosomal dominant gnathodiaphyseal dysplasia.
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