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 …
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 …
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
Consumption of dietary lipids, such as cholesterol, modulates the gut microbiome with
consequences for host health through the production of microbiome-derived metabolites …
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 …
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 …
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
Autosomal recessive congenital ichthyosis (ARCI), a phenotypically heterogeneous group of
non‐syndromic Mendelian disorders of keratinization, is caused by mutations in as many as …
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
Sulfotransferases (SULTs) are Phase II drug-metabolizing enzymes (DMEs) catalyzing the
sulfation of a variety of endogenous compounds, natural products, and drugs. Various drugs …
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 …
formation and normal functioning of a lipid barrier, lead to the development of autosomal …
SULT genetic polymorphisms: physiological, pharmacological and clinical implications
Abstract Introduction Cytosolic sulfotransferases (SULTs)-mediated sulfation is critically
involved in the metabolism of key endogenous compounds, such as catecholamines and …
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 …
cornification disorders that includes lamellar ichthyosis, congenital ichthyosiform …