|
Osteogenesis imperfecta, Levin type
|
0.800 |
Biomarker
|
disease |
BEFREE |
Homozygous Ano5 knockout mice (Ano5<sup>-/-</sup>) replicate some typical traits of human GDD including massive jawbones, bowing tibia, sclerosis and cortical thickening of femoral and tibial diaphyses.
|
30712070 |
2019 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
Biomarker
|
disease |
BEFREE |
Role of anoctamin 5, a gene associated with gnathodiaphyseal dysplasia, in osteoblast and osteoclast differentiation.
|
30557634 |
2019 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The novel mutation c.1067G>T (p.C356F) in ANO5 is responsible for the atypical GDD observed in our patients.
|
30554457 |
2019 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5).
|
29175271 |
2018 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Gain of function of TMEM16E/ANO5 scrambling activity caused by a mutation associated with gnathodiaphyseal dysplasia.
|
29124309 |
2018 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A Novel ANO5 Mutation Causing Gnathodiaphyseal Dysplasia With High Bone Turnover Osteosclerosis.
|
27541832 |
2017 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia.
|
28176803 |
2017 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Early-onset limb-girdle muscular dystrophy-2L in a female athlete.
|
27862037 |
2017 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
To date, autosomal-dominant mutations have been described in the ANO5 gene for gnathodiaphyseal dysplasia (GDD, OMIM: 166260), and multiple recessive mutations have been described in the gene for muscle dystrophies (OMIM: 613319, 611307); the same amino acid (Cys) at the position 356 is mutated in GDD.
|
27216912 |
2016 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Decreased Aerobic Capacity in ANO5-Muscular Dystrophy.
|
27911336 |
2016 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
|
27854218 |
2016 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To date, autosomal-dominant mutations have been described in the ANO5 gene for gnathodiaphyseal dysplasia (GDD, OMIM: 166260), and multiple recessive mutations have been described in the gene for muscle dystrophies (OMIM: 613319, 611307); the same amino acid (Cys) at the position 356 is mutated in GDD.
|
27216912 |
2016 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
|
26404900 |
2015 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.
|
25891276 |
2015 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We aimed to identify the causative mutation in a family with features of GDD but no mutation in ANO5, using whole exome capture and massive parallel sequencing (WES).
|
24891183 |
2015 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.
|
25891276 |
2015 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
Biomarker
|
disease |
BEFREE |
TMEM16E/GDD1 has been shown to be responsible for the bone-related late-onset disease gnathodiaphyseal dysplasia (GDD), with the dominant allele (TMEM16E(gdd) ) encoding a missense mutation at Cys356.
|
23843187 |
2014 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.
|
25135358 |
2014 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Dilated cardiomyopathy in patients with mutations in anoctamin 5.
|
23041008 |
2013 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
As ANO5 has also been found to be mutated in two different forms of muscular dystrophy, the finding of this third mutation in GDD adds clues to the role of ANO5 in these disorders.
|
23047743 |
2013 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
As ANO5 has also been found to be mutated in two different forms of muscular dystrophy, the finding of this third mutation in GDD adds clues to the role of ANO5 in these disorders.
|
23047743 |
2013 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression.
|
23670307 |
2013 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression.
|
23670307 |
2013 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy.
|
23530687 |
2013 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
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.
|
23606453 |
2013 |