Disease on EC 5.3.3.5 - cholestenol DELTA-isomerase
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DISEASE 
TITLE OF PUBLICATION
LINK TO PUBMED
Antley-Bixler Syndrome Phenotype
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.
Candidiasis
ERG2 and ERG24 Are Required for Normal Vacuolar Physiology as Well as Candida albicans Pathogenicity in a Murine Model of Disseminated but Not Vaginal Candidiasis.
cholestenol delta-isomerase deficiency
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.
Chondrodysplasia Punctata
A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2.
Chondrodysplasia Punctata
A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation.
Chondrodysplasia Punctata
Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome).
Chondrodysplasia Punctata
Cloning of an emopamil-binding protein (EBP)-like protein that lacks sterol delta8-delta7 isomerase activity.
Chondrodysplasia Punctata
Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis.
Chondrodysplasia Punctata
Gas chromatography-mass spectrometry and molecular genetic studies in families with the Conradi-Hünermann-Happle syndrome.
Chondrodysplasia Punctata
Male CDPX2 patient with EBP mosaicism and asymmetrically lateralized skin lesions with strict midline demarcation.
Chondrodysplasia Punctata
Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctata.
Chondrodysplasia Punctata
Pustular Skin Lesions in an Adult Female Patient with X-linked Dominant Chondrodysplasia Punctata with a Novel Emopamil Binding Protein Mutation: A Rare Skin Manifestation.
Chondrodysplasia Punctata
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.
Chondrodysplasia Punctata
The Conradi-Hünermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism.
Chondrodysplasia Punctata
X-linked dominant chondrodysplasia punctata with severe phenotype in a female fetus: A case report.
Colorectal Neoplasms
A perspective on medicinal chemistry approaches towards adenomatous polyposis coli and Wnt signal based colorectal cancer inhibitors.
Demyelinating Diseases
[Mechanisms underlying remyelination with special focus on demyelination models of multiple sclerosis].
Foot-and-Mouth Disease
Single-cell analysis reveals the relevance of foot-and-mouth disease virus persistence to emopamil-binding protein gene expression in host cells.
Infections
ERG2 and ERG24 Are Required for Normal Vacuolar Physiology as Well as Candida albicans Pathogenicity in a Murine Model of Disseminated but Not Vaginal Candidiasis.
Neoplasms
Isolation of differentially expressed genes in NPM-ALK-positive anaplastic large cell lymphoma.
Neoplasms
Prenatal diagnosis of fetal skeletal dysplasia using targeted next-generation sequencing: an analysis of 30 cases.
Nevus
Male CDPX2 patient with EBP mosaicism and asymmetrically lateralized skin lesions with strict midline demarcation.
Protein Deficiency
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.
Psoriasis
Emopamil binding protein mutation in conradi-hünermann-happle syndrome representing plaque-type psoriasis.
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