A5081677946- Skin and Cellular Biology Research
- Dermatological and Skeletal Disorders
- Wnt/β-catenin signaling in development and cancer
- Cancer and Skin Lesions
- Hair Growth and Disorders
- Dermatology and Skin Diseases
- Genetic and rare skin diseases.
- Nail Diseases and Treatments
- RNA regulation and disease
- Plant Reproductive Biology
- Dermatologic Treatments and Research
- Inflammatory Myopathies and Dermatomyositis
- RNA Research and Splicing
- Allergic Rhinitis and Sensitization
- Skin Protection and Aging
- Autoimmune Bullous Skin Diseases
- Cell Adhesion Molecules Research
- PI3K/AKT/mTOR signaling in cancer
- melanin and skin pigmentation
- Systemic Sclerosis and Related Diseases
- Advancements in Transdermal Drug Delivery
- Skin Diseases and Diabetes
- Cutaneous lymphoproliferative disorders research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Inflammasome and immune disorders
Nagoya University
2015-2025
Nagoya City University
2014
The corneocyte lipid envelope, composed of covalently bound ceramides and fatty acids, is important to the integrity permeability barrier in stratum corneum, its absence a prime structural defect various skin diseases associated with defective function. SDR9C7 encodes short-chain dehydrogenase/reductase family 9C member 7 (SDR9C7) recently found mutated ichthyosis. In patient mutation mouse Sdr9c7-KO model, we show loss covalent binding epidermal protein, fault barrier. For reasons...
Heterozygous mutations in JAK1 which result JAK-STAT hyperactivity have been implicated an autosomal dominant disorder that features multi-organ immune dysregulation. This study identifies another previously unreported heterozygous missense mutation, H596D, individual with a unique autoinflammatory keratinization disease associated early-onset liver dysfunction and autism. Using CRISPR-Cas9 gene targeting, we generated mice identical Jak1 knock-in mutation ( H595D/+;I596I/+;Y597Y/+ mice)...
No efficient treatment has yet been established for epidermolytic ichthyosis (EI), which is caused by pathogenic variants of KRT1 or KRT10. Patients with confetti (IWC) have multiple normal-appearing spots, the revertant somatic recombination that occurs at each spot independently. Additionally, some patients EI large areas normal skin due to postzygotic mosaicism.
Extramammary Paget's disease (EMPD) is a neoplastic skin of indeterminate origin with an unknown genetic cause. We performed comprehensive analysis or targeted gene sequencing in 48 patients EMPD. identified FOXA1 mutations, GAS6-FOXA1 fusion gene, and somatic hotspot mutations the promoter region 11 EMPD (11/48, 23%). Additional were PIK3CA (six patients) HIST1H2BB, HIST1H2BC, SMARCB1 (one patient each), but none found other frequently mutated genes cancer. A global expression using...
Mutations in LIPH cause of autosomal recessive woolly hair/hypotrichosis (ARWH), and the 2 missense mutations c.736T>A (p.Cys246Ser) c.742C>A (p.His248Asn) are considered prevalent founder for ARWH Japanese population. To reveal genotype/phenotype correlations cases Japan haplotypes 14 patients from unrelated families. 13 had hair, 1 patient complete baldness since birth. An mutation search revealed homozygous 10 patients. Compound heterozygous were found 3 patients, patient. The phenotype...
Abstract Autosomal recessive congenital ichthyoses (ARCI) is a genetically heterogeneous condition that can be caused by pathogenic variants in at least 12 genes, including ABCA12 . ARCI mainly consists of ichthyosiform erythroderma (CIE), lamellar ichthyosis (LI) and harlequin (HI). The objective was to determine previously unreported update genotype–phenotype correlations for patients with variants. Pathogenic were detected using Sanger sequencing or combination whole‐exome sequencing. To...
Abstract Background Mutations in LIPH are a cause of autosomal recessive woolly hair (ARWH). Homozygous c.736T>A (p.Cys246Ser), and compound heterozygous c.742C>A (p.His248Asn) have been reported 5 7 Japanese children with ARWH respectively. The severity hypotrichosis is known to be able change the clinical course, mutation patterns do not always correlate caused by other sites . However, all 12 previously shown similar hypotrichosis. Objective In this study, we investigated features...
Superficial epidermolytic ichthyosis (SEI) is an autosomal dominant inherited ichthyosis. SEI caused by mutations in KRT2 and frequently shows erythroderma widespread blistering at birth. We report the clinical manifestations of two patients from a Japanese family with hotspot mutation, p.Glu487Lys, KRT2. In addition, we summarize previous reports on identical mutation. One had disease onset age 7 months. The other patient’s unknown, but it was childhood. Neither showed erythroderma. To...
This small-scale prospective study investigated the changes in antigen-specific IgG4 (sIgG4) that occur during long-term dupilumab treatment patients with atopic dermatitis. While has been reported to have an inhibitory effect on B-cell maturation, increase sIgG4 may indicate indirectly improves allergies those predisposed them. We present possibility of a new therapeutic use.
This nonrandomized clinical trial evaluates the association of topical minoxidil with hypotrichosis in patients autosomal recessive woolly hair/hypotrichosis carrying LIPH pathogenic variants.
Self-healing collodion baby (SHCB), also called "self-improving baby", is a rare mild variant of autosomal recessive congenital ichthyosis and defined as who shows the nearly complete resolution scaling within first 3 months to 1 year life. However, during neonatal period, it not easy distinguish SHCB from other inflammatory forms ichthyosis, such ichthyosiform erythroderma. Here, we report case study two Japanese patients with compound heterozygous mutations, c.235G>T (p.(Glu79∗))/...