EBP Antibody

1. 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. PMID: 24700572
2. Mutation analysis revealed a heterozygous novel missense mutation, c.204G>T (p.W68C), in exon 2. PMID: 24915996
3. With non-mosaic EBP mutations in males. PMID: 24459067
4. Report steroidomimetic aminomethyl spiroacetals as novel inhibitors of the enzyme Delta8,7-sterol isomerase in cholesterol biosynthesis. PMID: 24493593
5. Elastin binding protein and FKBP65 modulate the kinetics of self-assembly of tropoelastin in an in vitro system. PMID: 24106871
6. Results show a clear relationship between abnormal sterol profile and the EBP gene mutation PMID: 22121851
7. postzygotic mosaicism on an ichthyosiform skin lesion in the mother of a girl with X-linked dominant chondrodysplasia punctata associated with a novel EBP mutation. PMID: 21931045
8. Molecular analysis of EBP mutations were made. PMID: 17378690
9. Emopamil binding protein (EBP)-shRNA sequences were designed and tested for their effectiveness. PMID: 17498944
10. 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. PMID: 17949453
11. two unrelated Thai girls with chondrodysplasia 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. PMID: 18573709

Show More

Hide All

HGNC: 3133

OMIM: 300205

KEGG: hsa:10682

STRING: 9606.ENSP00000417052

UniGene: Hs.30619