Disease on EC 1.14.14.177 - ultra-long-chain fatty acid omega-hydroxylase
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DISEASE 
TITLE OF PUBLICATION
LINK TO PUBMED
Dermatitis, Exfoliative
Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient.
Dermatitis, Exfoliative
Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal.
Hearing Loss
A Tunisian family with a novel mutation in the gene CYP4F22 for lamellar ichthyosis and co-occurrence of hearing loss in a child due to mutation in the SLC26A4 gene.
Ichthyosiform Erythroderma, Congenital
Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient.
Ichthyosiform Erythroderma, Congenital
Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal.
Ichthyosis
A Tunisian family with a novel mutation in the gene CYP4F22 for lamellar ichthyosis and co-occurrence of hearing loss in a child due to mutation in the SLC26A4 gene.
Ichthyosis
Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects.
Ichthyosis
Elucidation of the Synthetic Mechanism of Acylceramide, an Essential Lipid for Skin Barrier Function.
Ichthyosis
Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.
Ichthyosis
Identification of Mutations in SDR9C7 in 6 Families with Autosomal Recessive Congenital Ichthyosis.
Ichthyosis
Impaired production of the skin barrier lipid acylceramide by CYP4F22 ichthyosis mutations.
Ichthyosis
Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations.
Ichthyosis
Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.
Ichthyosis
Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation.
Ichthyosis
Severe Skin Permeability Barrier Dysfunction in Knockout Mice Deficient in a Fatty Acid ?-Hydroxylase Crucial to Acylceramide Production.
Ichthyosis
Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby.
Ichthyosis, Lamellar
A Tunisian family with a novel mutation in the gene CYP4F22 for lamellar ichthyosis and co-occurrence of hearing loss in a child due to mutation in the SLC26A4 gene.
Ichthyosis, Lamellar
Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal.
Ichthyosis, Lamellar
Genotype and Anterior Segment Phenotype in a Cohort of Turkish Patients with Lamellar Ichthyosis.
Ichthyosis, Lamellar
Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean.
Ichthyosis, Lamellar
LC-MS/MS analysis of epoxyalcohols and epoxides of arachidonic acid and their oxygenation by recombinant CYP4F8 and CYP4F22.
Neoplasms
Molecular modeling and identification of substrate binding site of orphan human cytochrome P450 4F22.
Skin Diseases
Molecular Functionality of Cytochrome P450 4 (CYP4) Genetic Polymorphisms and Their Clinical Implications.
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