Associated Papers
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 2025
Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.
Horbacz M et al.
Frontiers in Medicine, 2025
Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.
Wertheim-Tysarowska K et al.
Orphanet Journal of Rare Diseases, 2024
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
High rate of self-improving phenotypes in children with non-syndromic congenital ichthyosis: case series from south-western Germany.
Frommherz L et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2021
Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.
Hotz A et al.
Genes, 2021
Bending of DNA duplexes with mutation motifs.
Růžička M et al.
Dna Research : an International Journal for Rapid Publication of Reports on Genes and Genomes, 2019
Inherited ichthyoses: molecular causes of the disease in Czech patients.
Borská R et al.
Orphanet Journal of Rare Diseases, 2019
Identification and association of recurrent ALOXE3 mutation with non-bullous congenital ichthyosiform erythroderma in two ethnically distinct Pakistani families.
Rahman SB et al.
Congenital Anomalies, 2019
Autosomal recessive congenital ichthyoses in the Czech Republic.
Bučková H et al.
The British Journal of Dermatology, 2016
Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi's Granuloma: The Consequences of Skin Barrier Dysfunction.
Wang T et al.
International Journal of Molecular Sciences, 2015
The expression of epidermal lipoxygenases and transglutaminase-1 is perturbed by NIPAL4 mutations: indications of a common metabolic pathway essential for skin barrier homeostasis.
Li H et al.
The Journal of Investigative Dermatology, 2012
Autosomal recessive congenital ichthyosis.
Fischer J
The Journal of Investigative Dermatology, 2009
A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma.
Ashoor G et al.
The British Journal of Dermatology, 2006
Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.
Jobard F et al.
Human Molecular Genetics, 2002