Current Strategies for the Gene Therapy of Autosomal Recessive Congenital Ichthyosis and Other Types of Inherited Ichthyosis

Next‐generation sequencing through multi‐gene panel testing for diagnosis of hereditary ichthyosis in Chinese

(2020) Ruhong Cheng et al.   CLINICAL GENETICS

Preclinical evaluation of a modified HSV-1 vector encoding human TGM1 for the treatment of autosomal recessive congenital ichthyosis (ARCI).

(2020) John C. Freedman et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Metachromatic Leukodystrophy: Diagnosis, Modeling, and Treatment Approaches

(2020) Alisa A. Shaimardanova et al.   Frontiers in Medicine

Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients

(2020) Tiziana Fioretti et al.   Diagnostics

Gene editing-mediated disruption of epidermolytic ichthyosis-associated KRT10 alleles restores filament stability in keratinocytes

(2019) Oliver Patrick March et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Gene Therapy Leaves a Vicious Cycle

(2019) Reena Goswami et al.   Frontiers in Oncology

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

(2019) J.K. Simpson et al.   BRITISH JOURNAL OF DERMATOLOGY

Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population

(2019) U. S. Esperón-Moldes et al.   Scientific Reports

Generation and Clinical Application of Gene-Modified Autologous Epidermal Sheets in Netherton Syndrome: Lessons Learned from a Phase 1 Trial

(2019) Wei-Li Di et al.   HUMAN GENE THERAPY

ALLELE-SPECIFIC SIRNA CORRECTS ABERRANT CELLULAR PHENOTYPE IN KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME KERATINOCYTES

(2019) Ming Yang Lee et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Variants in NIPAL4 and ALOXE3 cause autosomal recessive congenital ichthyosis in Pakistani families

(2019) Abida Akbar et al.   CONGENITAL ANOMALIES

Reduced stratum corneum acylceramides in autosomal recessive congenital ichthyosis with a NIPAL4 mutation

(2019) Yuya Murase et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

Ichthyosis molecular fingerprinting shows profound T H 17 skewing and a unique barrier genomic signature

(2018) Kunal Malik et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

The Major Orphan Forms of Ichthyosis Are Characterized by Systemic T-Cell Activation and Th-17/Tc-17/Th-22/Tc-22 Polarization in Blood

(2018) Tali Czarnowicki et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Ocular Surface Stem Cell Transplantation for Treatment of Keratitis–Ichthyosis–Deafness Syndrome

(2018) Albert Y. Cheung et al.   CORNEA

Transglutaminase 1 Replacement Therapy Successfully Mitigates the ARCI Phenotype in Full-Thickness Skin Disease Equivalents

(2018) Roswitha Plank et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

New Approaches to Tay-Sachs Disease Therapy

(2018) Valeriya V. Solovyeva et al.   Frontiers in Physiology

An IL-17–dominant immune profile is shared across the major orphan forms of ichthyosis

(2017) Amy S. Paller et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis

(2017) Yohya Shigehara et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

Retinoids: a journey from the molecular structures and mechanisms of action to clinical uses in dermatology and adverse effects

(2017) Samar Khalil et al.   JOURNAL OF DERMATOLOGICAL TREATMENT

Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients

(2016) M Pigg et al.   ACTA DERMATO-VENEREOLOGICA

Efficacy and safety of brodalumab in patients with generalized pustular psoriasis and psoriatic erythroderma: results from a 52-week, open-label study

(2016) K. Yamasaki et al.   BRITISH JOURNAL OF DERMATOLOGY

Comparing histopathology from patients with X-linked recessive ichthyosis and autosomal recessive congenital ichthyosis with transglutaminase 1 mutation: A report from the National Registry for Ichthyosis and Related Skin Disorders

(2016) Catherine S. Yang et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

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

(2015) Tao Wang et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

T-cell plasticity in inflammatory skin diseases - the good, the bad, and the chameleons

(2015) Martina Gatzka et al.   JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT

Thermosensitive dendritic polyglycerol-based nanogels for cutaneous delivery of biomacromolecules

(2015) Madeleine Witting et al.   Nanomedicine-Nanotechnology Biology and Medicine

Expression of Retinoid-regulated Genes in Lamellar Ichthyosis vs. Healthy Control Epidermis: Changes after Oral Treatment with Liarozole

(2014) E Loriè et al.   ACTA DERMATO-VENEREOLOGICA

Fetal inhibition of inflammation improves disease phenotypes in harlequin ichthyosis

(2014) Denny L. Cottle et al.   HUMAN MOLECULAR GENETICS

Transglutaminase Regulation of Cell Function

(2014) Richard L. Eckert et al.   PHYSIOLOGICAL REVIEWS

Gene Therapy for Skin Diseases

(2014) E. Gorell et al.   Cold Spring Harbor Perspectives in Medicine

Topical Enzyme-Replacement Therapy Restores Transglutaminase 1 Activity and Corrects Architecture of Transglutaminase-1-Deficient Skin Grafts

(2013) Karin Aufenvenne et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Systemic retinoids in the management of ichthyoses and related skin types

(2013) John J. DiGiovanna et al.   Dermatologic Therapy

Correction: Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans

(2013) Franz P. W. Radner et al.   PLoS Genetics

Phase I Study Protocol for Ex Vivo Lentiviral Gene Therapy for the Inherited Skin Disease, Netherton Syndrome

(2013) Wei-Li Di et al.   Human Gene Therapy Clinical Development

Long-Term Faithful Recapitulation of Transglutaminase 1–Deficient Lamellar Ichthyosis in a Skin-Humanized Mouse Model, and Insights from Proteomic Studies

(2012) Karin Aufenvenne et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

A Mutation in LIPN, Encoding Epidermal Lipase N, Causes a Late-Onset Form of Autosomal-Recessive Congenital Ichthyosis

(2011) Shirli Israeli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects

(2011) L. Rodríguez-Pazos et al.   BRITISH JOURNAL OF DERMATOLOGY

Efficacy of topical 10% urea-based lotion in patients with ichthyosis vulgaris: a two-center, randomized, controlled, single-blind, right-vs.-left study in comparison with standard glycerol-based emollient cream

(2011) Gianluca Tadini et al.   CURRENT MEDICAL RESEARCH AND OPINION

Successful Treatment with Topical N-Acetylcysteine in Urea in Five Children with Congenital Lamellar Ichthyosis

(2011) Adriana Bassotti et al.   PEDIATRIC DERMATOLOGY

Thermosensitive nanogels based on dendritic polyglycerol and N-isopropylacrylamide for biomedical applications

(2011) Julio C. Cuggino et al.   Soft Matter

Long-Term Type VII Collagen Restoration to Human Epidermolysis Bullosa Skin Tissue

(2010) Zurab Siprashvili et al.   HUMAN GENE THERAPY

Interleukin-1 alpha blockade prevents hyperkeratosis in an in vitro model of lamellar ichthyosis

(2010) Ryan F.L. O'Shaughnessy et al.   HUMAN MOLECULAR GENETICS

Development of Skin-Humanized Mouse Models of Pachyonychia Congenita

(2010) Marta García et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009

(2010) Vinzenz Oji et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Maternal Skin Allograft for Cicatricial Ectropion in Congenital Icthyosis

(2010) Sima Das et al.   OPHTHALMIC PLASTIC AND RECONSTRUCTIVE SURGERY

Keratitis, Ichthyosis, and Deafness (KID Syndrome): Review of the Literature and Proposal of a New Terminology

(2010) Hector Caceres-Rios et al.   PEDIATRIC DERMATOLOGY

Ichthyosis

(2009) Vinzenz Oji et al.   AMERICAN JOURNAL OF CLINICAL DERMATOLOGY

Enzyme Replacement Therapy for Fabry Disease

(2009) Roland M. Schaefer et al.   DRUGS

Autosomal Recessive Congenital Ichthyosis

(2009) Judith Fischer   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Genotypic and Clinical Spectrum of Self-Improving Collodion Ichthyosis: ALOX12B, ALOXE3, and TGM1 Mutations in Scandinavian Patients

(2009) Anders Vahlquist et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Japan Elaprase® Treatment (JET) study: Idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II)

(2009) Torayuki Okuyama et al.   MOLECULAR GENETICS AND METABOLISM

Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: Summary of mutations (including 23 novel) and modeling of TGase-1

(2008) Matthew L. Herman et al.   HUMAN MUTATION