Ichthyosis

C Gutiérrez-Cerrajero, E Sprecher, AS Paller… - Nature Reviews …, 2023 - nature.com
The ichthyoses are a large, heterogeneous group of skin cornification disorders. They can
be inherited or acquired, and result in defective keratinocyte differentiation and abnormal …

[HTML][HTML] Autosomal recessive congenital ichthyosis

J Fischer - Journal of investigative dermatology, 2009 - Elsevier
Recent progress in the genetics of autosomal recessive congenital ichthyosis (ARCI) has
illustrated the power of genetic strategies for the investigation of newly recognized metabolic …

Characterization of interactions of dietary cholesterol with the murine and human gut microbiome

HH Le, MT Lee, KR Besler, JMC Comrie… - Nature …, 2022 - nature.com
Consumption of dietary lipids, such as cholesterol, modulates the gut microbiome with
consequences for host health through the production of microbiome-derived metabolites …

[HTML][HTML] Genetics of inherited ichthyoses and related diseases

J Fischer, E Bourrat - Acta dermato-venereologica, 2020 - ncbi.nlm.nih.gov
Inherited ichthyoses are classified as Mendelian disorders of cornification (MEDOC), which
are defined on the basis of clinical and genetic features and are mainly divided into non …

Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis

JK Simpson, M Martinez‐Queipo… - British Journal of …, 2020 - academic.oup.com
Background Recessive forms of congenital ichthyosis encompass a group of rare inherited
disorders of keratinization leading to dry, scaly skin. So far, 13 genes have been implicated …

Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families

L Youssefian, H Vahidnezhad, AH Saeidian… - Human …, 2019 - Wiley Online Library
Autosomal recessive congenital ichthyosis (ARCI), a phenotypically heterogeneous group of
non‐syndromic Mendelian disorders of keratinization, is caused by mutations in as many as …

Pharmacogenetics of human sulfotransferases and impact of amino acid exchange on Phase II drug metabolism

A Isvoran, Y Peng, S Ceauranu, L Schmidt, AB Nicot… - Drug Discovery …, 2022 - Elsevier
Sulfotransferases (SULTs) are Phase II drug-metabolizing enzymes (DMEs) catalyzing the
sulfation of a variety of endogenous compounds, natural products, and drugs. Various drugs …

Current strategies for the gene therapy of autosomal recessive congenital ichthyosis and other types of inherited ichthyosis

DS Chulpanova, AA Shaimardanova… - International Journal of …, 2022 - mdpi.com
Mutations in genes such as transglutaminase-1 (TGM1), which are responsible for the
formation and normal functioning of a lipid barrier, lead to the development of autosomal …

SULT genetic polymorphisms: physiological, pharmacological and clinical implications

K Kurogi, MI Rasool, FA Alherz… - Expert opinion on …, 2021 - Taylor & Francis
Abstract Introduction Cytosolic sulfotransferases (SULTs)-mediated sulfation is critically
involved in the metabolism of key endogenous compounds, such as catecholamines and …

Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients

A Hotz, J Kopp, E Bourrat, V Oji, K Komlosi, K Giehl… - Genes, 2021 - mdpi.com
The autosomal recessive congenital ichthyoses (ARCI) are a nonsyndromic group of
cornification disorders that includes lamellar ichthyosis, congenital ichthyosiform …