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The protein encoded by EBP is an integral membrane protein of the endoplasmic reticulum.
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This study expands the current phenotypic spectrum of males with hypomorphic EBP mutations and supports to the hypothesis that there exists an X-linked recessive entity independent of CDPX2.
With non-mosaic EBP mutations in males.
Elastin (show ELN ELISA Kits) binding protein and FKBP65 (show FKBP10 ELISA Kits) modulate the kinetics of self-assembly of tropoelastin (show ELN ELISA Kits) in an in vitro system.
Results show a clear relationship between abnormal sterol profile and the EBP gene mutation
postzygotic mosaicism on an ichthyosiform skin lesion in the mother of a girl with X-linked dominant chondrodysplasia (show COL11A1 ELISA Kits) punctata associated with a novel EBP mutation.
Molecular analysis of EBP mutations were made.
Emopamil binding protein (EBP)-shRNA sequences were designed and tested for their effectiveness.
We found two novel (3G-->T and 419-422delTTCT) and one known mutation in the EBP gene. The strong phenotypic variability in our patients suggests that there is no clear genotype-phenotype correlation.
two unrelated Thai girls with chondrodysplasia (show COL11A1 ELISA Kits) punctata type 2. Mutation analysis by PCR-sequencing the entire coding region of emopamil binding protein(EBP) successfully revealed two potentially pathogenic, novel mutations, c.616G-->T and c.382delC.
These findings indicate that the HO-1 (show HMOX1 ELISA Kits)/EBP interaction plays a protective role in alleviating the dysfunction of oxidative stress and cardiac systolic function induced by cholesterol stimulation.
Mouse Tdho abnormality results from double point mutations of the emopamil binding protein gene (Ebp).
The protein encoded by this gene is an integral membrane protein of the endoplasmic reticulum. It is a high affinity binding protein for the antiischemic phenylalkylamine Ca2+ antagonist
, D8-D7 sterol isomerase
, emopamil-binding protein
, cholestenol Delta-isomerase
, phenylalkylamine binding protein
, delta(8)-Delta(7) sterol isomerase
, emopamil binding protein (sterol isomerase)
, Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)
, emopamil-binding protein (sterol isomerase)
, sterol 8-isomerase
, phenylalkylamine Ca2+ antagonist (emopamil) binding protein