Disease on EC 1.14.18.9 - 4alpha-methylsterol monooxygenase
Please use the Disease Search for a specific query.
Please wait a moment until all data is loaded. This message will disappear when all data is loaded.
DISEASE 
TITLE OF PUBLICATION
LINK TO PUBMED
4alpha-methylsterol monooxygenase deficiency
A rare case of sterol-C4-methyl oxidase deficiency in a young Italian male: Biochemical and molecular characterization.
4alpha-methylsterol monooxygenase deficiency
Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome.
4alpha-methylsterol monooxygenase deficiency
Malformation syndromes caused by disorders of cholesterol synthesis.
4alpha-methylsterol monooxygenase deficiency
New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis.
4alpha-methylsterol monooxygenase deficiency
The role of sterol-C4-methyl oxidase in epidermal biology.
Antley-Bixler Syndrome Phenotype
Malformation syndromes caused by disorders of cholesterol synthesis.
Antley-Bixler Syndrome Phenotype
Sterol metabolism disorders and neurodevelopment-an update.
Carcinoma
Endogenous Sterol Metabolites Regulate Growth of EGFR/KRAS-Dependent Tumors via LXR.
Carcinoma, Ovarian Epithelial
[Analysis of gene expression profiles among 3 epithelial ovarian tumor subtypes using cDNA and tissue microarrays]
Cataract
A rare case of sterol-C4-methyl oxidase deficiency in a young Italian male: Biochemical and molecular characterization.
Cataract
Compound mouse mutants of bZIP transcription factors Mafg and Mafk reveal a regulatory network of non-crystallin genes associated with cataract.
Chondrodysplasia Punctata
Malformation syndromes caused by disorders of cholesterol synthesis.
Dermatitis
Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay.
Dermatitis
New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis.
Dermatomycoses
Assessment of the mechanism of drug resistance in Trichophyton mentagrophytes in response to various substances.
Dyslipidemias
Genome-wide association study identifies novel loci association with fasting insulin and insulin resistance in African Americans.
Dyslipidemias
Role of dipeptidyl peptidase IV (DPP4) in the development of dyslipidemia: DPP4 contributes to the steroid metabolism pathway.
Intellectual Disability
New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis.
Learning Disabilities
A rare case of sterol-C4-methyl oxidase deficiency in a young Italian male: Biochemical and molecular characterization.
Microcephaly
A rare case of sterol-C4-methyl oxidase deficiency in a young Italian male: Biochemical and molecular characterization.
Microcephaly
Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay.
Myopia
New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis.
Neoplasms
Targeting C4-demethylating genes in the cholesterol pathway sensitizes cancer cells to EGF receptor inhibitors via increased EGF receptor degradation.
Obesity
Genome-wide association study identifies novel loci association with fasting insulin and insulin resistance in African Americans.
Smith-Lemli-Opitz Syndrome
Malformation syndromes caused by disorders of cholesterol synthesis.
html completed
