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Last Updated: 03/06/2025

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Found 530 publications

Steroid sulfatase suppresses keratinization by inducing proteasomal degradation of E-cadherin via Hakai regulation.

Steroid sulfatase suppresses keratinization by inducing proteasomal degradation of E-cadherin via Hakai regulation.

Journal: Biochimica et biophysica acta. Molecular cell research
Published: September 10, 2024

X-linked ichthyosis presenting with cryptorchidism for orchidopexy: A rare anesthetic encounter and case report.

X-linked ichthyosis presenting with cryptorchidism for orchidopexy: A rare anesthetic encounter and case report.

Journal: Clinical case reports
Published: May 04, 2024

Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.

Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.

Journal: Biomedicines
Published: April 03, 2024

Congenital Ichthyosis: Current Approaches to Prenatal Diagnoses.

Congenital Ichthyosis: Current Approaches to Prenatal Diagnoses.

Journal: Fetal and pediatric pathology
Published: January 11, 2024

Cardiac arrhythmia in individuals with steroid sulfatase deficiency (X-linked ichthyosis): candidate anatomical and biochemical pathways.

Cardiac arrhythmia in individuals with steroid sulfatase deficiency (X-linked ichthyosis): candidate anatomical and biochemical pathways.

Journal: Essays in biochemistry
Published: December 20, 2023

Memory, mood and associated neuroanatomy in individuals with steroid sulphatase deficiency (X-linked ichthyosis).

Memory, mood and associated neuroanatomy in individuals with steroid sulphatase deficiency (X-linked ichthyosis).

Journal: Genes, brain, and behavior
Published: December 14, 2023

Revisiting X-linked congenital ichthyosis.

Revisiting X-linked congenital ichthyosis.

Journal: International journal of dermatology
Published: December 09, 2023

X-linked genodermatoses from diagnosis to tailored therapy.

X-linked genodermatoses from diagnosis to tailored therapy.

Journal: La Clinica terapeutica
Published: November 23, 2023

Unraveling the molecular mechanisms of cell migration impairment and apoptosis associated with steroid sulfatase deficiency: Implications for X-linked ichthyosis.

Unraveling the molecular mechanisms of cell migration impairment and apoptosis associated with steroid sulfatase deficiency: Implications for X-linked ichthyosis.

Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: September 13, 2023

STS and PUDP Deletion Identified by Targeted Panel Sequencing with CNV Analysis in X-Linked Ichthyosis: A Case Report and Literature Review.

STS and PUDP Deletion Identified by Targeted Panel Sequencing with CNV Analysis in X-Linked Ichthyosis: A Case Report and Literature Review.

Journal: Genes
Published: September 12, 2023

Dual clinical features of fine and rough scales seen in a combined ichthyosis vulgaris and X-linked recessive ichthyosis patient with atopic dermatitis.

Dual clinical features of fine and rough scales seen in a combined ichthyosis vulgaris and X-linked recessive ichthyosis patient with atopic dermatitis.

Journal: The Journal of dermatology
Published: July 07, 2023

Clinicopathologic and trichoscopic features of keratosis follicularis spinulosa decalvans: A case series study.

Clinicopathologic and trichoscopic features of keratosis follicularis spinulosa decalvans: A case series study.

Journal: The Journal of dermatology
Published: July 07, 2023
Showing 1-12 of 530

Last Updated: 03/06/2025