A5057351556- Skin and Cellular Biology Research
- Genetic and rare skin diseases.
- Inflammasome and immune disorders
- Dermatology and Skin Diseases
- Autoimmune Bullous Skin Diseases
- Plant Reproductive Biology
- Cancer and Skin Lesions
- Research on Leishmaniasis Studies
- Cytokine Signaling Pathways and Interactions
- Cell Adhesion Molecules Research
- Psoriasis: Treatment and Pathogenesis
- Nail Diseases and Treatments
- Antifungal resistance and susceptibility
- Radiation Dose and Imaging
- Polysaccharides and Plant Cell Walls
- Immune Cell Function and Interaction
- Facial Nerve Paralysis Treatment and Research
- Autoimmune and Inflammatory Disorders
- Educational Robotics and Engineering
- Erythrocyte Function and Pathophysiology
- Ear and Head Tumors
- Autoimmune and Inflammatory Disorders Research
- Dermatologic Treatments and Research
- Lysosomal Storage Disorders Research
- Fungal Infections and Studies
Nagoya University
2019-2025
Gifu Prefectural Tajimi Hospital
2018-2019
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.
Pathogenic variants in MPO, which encodes the myeloperoxidase, were reported as causative genetic defects several cases of generalised pustular psoriasis (GPP) addition to patients with myeloperoxidase deficiency 2020. However, clinical subtypes GPP have pathogenic MPO remains largely undetermined, and elucidating this is clinically important. The present report outlines a mild case rare missense heterozygous variant, c.1810C>T p.(Arg604Cys), MPO. Our structural analysis functional assays...
Abstract Pathogenic variants in ABCA12 are important causative genetic defects for autosomal recessive congenital ichthyoses (ARCI), which include ichthyosiform erythroderma (CIE), harlequin ichthyosis, and lamellar ichthyosis. In addition, pathogenic known to cause a localized nevoid form of CIE due mosaicism. We previously reported siblings who carried an variant but did not show “congenital” phenotype. They were considered have pityriasis rubra pilaris (PRP). Here, we present further...
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...
This nonrandomized clinical trial evaluates the association of topical minoxidil with hypotrichosis in patients autosomal recessive woolly hair/hypotrichosis carrying LIPH pathogenic variants.
Abstract Pityriasis rubra pilaris (PRP) is a rare inflammatory keratinization disorder with perifollicular erythema, and most autosomal dominant familial cases of atypical juvenile (type V) PRP are caused by gain-of-function mutations in CARD14, which encodes caspase recruitment domain-containing protein 14 (CARD14). We report the first mouse model to carry homozygous knock-in mutation, c.380G>C (p.Cys127Ser) corresponding PRP-causative human CARD14. The Card14C127S/C127S mice...
A 47-year-old man with acute myeloid leukemia and myelodysplastic-related changes relapsed after an allogenic bone marrow transplant received a cord blood as salvage therapy. The patient developed febrile neutropenia that was resistant to broad-spectrum antibiotics multiple, painful, nodular skin lesions on his trunk extremities before engraftment. biopsy culture found mold, the subsequent microscopic examination, mass spectrometry, DNA sequencing of fungal colonies identified Fusarium...