A5038485399- Skin and Cellular Biology Research
- Urticaria and Related Conditions
- Dermatology and Skin Diseases
- Autoimmune Bullous Skin Diseases
- Psoriasis: Treatment and Pathogenesis
- Wnt/β-catenin signaling in development and cancer
- Drug-Induced Adverse Reactions
- Dermatological and Skeletal Disorders
- Nail Diseases and Treatments
- Eosinophilic Disorders and Syndromes
- Cutaneous lymphoproliferative disorders research
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Herpesvirus Infections and Treatments
- Plant Reproductive Biology
- Mast cells and histamine
- Fibroblast Growth Factor Research
- Skin Diseases and Diabetes
- Genetic and rare skin diseases.
- Histiocytic Disorders and Treatments
- Heat shock proteins research
- melanin and skin pigmentation
- RNA regulation and disease
- Tendon Structure and Treatment
- Hair Growth and Disorders
- Cytomegalovirus and herpesvirus research
Nagoya University
2012-2022
Aichi Medical University
1997-2021
Okayama Psychiatric Medical Center
1997-2015
Tokyo University of Pharmacy and Life Sciences
1999
Abstract Mutations in patatin-like phospholipase domain-containing 1 (PNPLA1) cause autosomal recessive congenital ichthyosis, but the mechanism involved remains unclear. Here we show that PNPLA1, an enzyme expressed differentiated keratinocytes, plays a crucial role biosynthesis of ω- O -acylceramide, lipid component essential for skin barrier. Global or keratinocyte-specific Pnpla1 -deficient neonates die due to epidermal permeability barrier defects with severe transepidermal water loss,...
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...
Programmed cell death (PCD) in normal human skin tissues was studied by using situ specific labelling of fragmented DNA. This method clearly stained the nuclei Henle's layer bulb anagen hair follicle serial sections, and inner root sheath cuticle cells Huxley's showed positive staining upper part follicles. pattern consistent with sequence keratinization three layers. The differentiated located at centre sebaceous glands, those granular keratinocyte layer, were also stained. These findings...
Reticulate acropigmentation of Kitamura (RAK) is a rare genetic disorder cutaneous pigmentation with an autosomal dominant pattern inheritance and high penetration rate. The characteristic skin lesions are reticulate, slightly depressed pigmented macules mainly affecting the dorsa hands feet, which first appear before puberty subsequently expand to proximal limb trunk. To identify mutations that cause RAK, we performed exome sequencing four family members in pedigree RAK. Fifty-three...
Pitted keratolysis (PK) has been reported to be more common among bare-footed people living in tropical regions. It is now known that the disease not limited tropics but a world-wide distribution. However, no study previously performed analysing clinical manifestations of temperate countries. A survey 53 patients revealed several distinctive features. Hyperhidrosis most frequently observed symptom this condition. Malodour and sliminess skin are also features, evident 88.7% 69.8% cases,...
An acyl-CoA hydrolase, referred to as hBACH, was purified from human brain cytosol. The enzyme had a molecular mass of 100 kDa and 43-kDa subunits, highly active with long-chain acyl-CoAs, e.g. maximal velocity 295 micromol/min/mg K(m) 6.4 microM for palmitoyl-CoA. Acyl-CoAs carbon chain lengths C(8-18) were also good substrates. In cytosol, 85% palmitoyl-CoA hydrolase activity titrated by an anti-BACH antibody, which accounted over 75% the found in tissue. cDNA isolated when expressed...
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...
Abstract Background Recent case reports have shown the efficacy of apremilast for treatment palmoplantar pustulosis (PPP). However, no study has statistically analyzed clinical oral in patients with PPP. Objectives To evaluate effectiveness apremilast, a phosphodiesterase 4 inhibitor, Materials and Methods Among 13 who were diagnosed PPP, 10 PPP either pustules (>1 mm diameter) or sternoclavicular joint pain retrospectively analyzed. Results Palmoplantar Pustulosis Area Severity Index...
Formation of the human skin epidermis can be reproduced by a three‐dimensional (3D) keratinocyte culture system, in which air‐exposure is inevitable upon initiation differentiation. In continuous submerged without air‐exposure, even with differentiation‐compatible medium, several keratinocyte‐specific proteins were not induced resulting formation aberrant epidermal layers. To clarify mechanism promotes differentiation, we performed comparative analysis on biological properties between and...
During skin formation, particularly during differentiation of keratinocytes, unique post‐translational modifications play a role in forming proteinaceous supermolecule called the cornified envelope ( CE ), which is necessary for barrier function. Transglutaminases TG s) are essential enzymes involved cross‐linking various keratinocyte structural proteins to complete formation. The family consists eight isozymes, with two members, 1 and 3, located mainly epidermis. In an vitro...
The expression of the transglutaminase I in human anagen hair follicles was studied by an immunohistochemical staining. In bulbar and suprabulbar portions follicles, detected on cuticle three layers inner root sheath. Subsequently, positive staining became translocated to site outer sheath middle part follicle. upper portion follicle internal surface epidermis. Therefore, it suggested that might be closely associated with terminal keratinization follicles.