Mari Wataya‐Kaneda
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View article: Author response: Downregulation of semaphorin 4A in keratinocytes reflects the features of non-lesional psoriasis
Author response: Downregulation of semaphorin 4A in keratinocytes reflects the features of non-lesional psoriasis Open
View article: Downregulation of semaphorin 4A in keratinocytes reflects the features of non-lesional psoriasis
Downregulation of semaphorin 4A in keratinocytes reflects the features of non-lesional psoriasis Open
Psoriasis is a multifactorial disorder mediated by IL-17-producing T cells, involving immune cells and skin-constituting cells. Semaphorin 4A (Sema4A), an immune semaphorin, is known to take part in T helper type 1/17 differentiation and a…
View article: Author response: Downregulation of Semaphorin 4A in keratinocytes reflects the features of non-lesional psoriasis
Author response: Downregulation of Semaphorin 4A in keratinocytes reflects the features of non-lesional psoriasis Open
View article: Downregulation of Semaphorin 4A in keratinocytes reflects the features of non-lesional psoriasis
Downregulation of Semaphorin 4A in keratinocytes reflects the features of non-lesional psoriasis Open
Psoriasis is a multifactorial disorder mediated by IL-17-producing T cells, involving immune cells and skin-constituting cells. Semaphorin 4A (Sema4A), an immune semaphorin, is known to take part in T helper type 1/17 differentiation and a…
View article: Diagnostic flow analysis of tuberous sclerosis complex in Japan: a retrospective claims database study
Diagnostic flow analysis of tuberous sclerosis complex in Japan: a retrospective claims database study Open
View article: Somatostatin-expressing inhibitory neurons with mTORC1 activation in cortical layers 4/5 are involved in the epileptogenesis of mice
Somatostatin-expressing inhibitory neurons with mTORC1 activation in cortical layers 4/5 are involved in the epileptogenesis of mice Open
Aim: Patients with tuberous sclerosis complex (TSC) which is caused by hyperactivation of mechanistic target of rapamycin complex 1 (mTORC1) often show giant cells in the brain. These giant cells are thought to be involved in epileptogenes…
View article: The recognition of Loeys–Dietz syndrome as a differential diagnosis
The recognition of Loeys–Dietz syndrome as a differential diagnosis Open
View article: Downregulation of Semaphorin 4A in keratinocytes reflects the features of non-lesional psoriasis
Downregulation of Semaphorin 4A in keratinocytes reflects the features of non-lesional psoriasis Open
Psoriasis is a multifactorial disorder mediated by IL-17-producing T cells, involving immune cells and skin-constituting cells. Semaphorin 4A (Sema4A), an immune semaphorin, is known to take part in T helper type 1/17 differentiation and a…
View article: Downregulation of semaphorin 4A in keratinocytes reflects the features of non-lesional psoriasis
Downregulation of semaphorin 4A in keratinocytes reflects the features of non-lesional psoriasis Open
Psoriasis is a multifactorial disorder mediated by IL-17-producing T cells, involving immune cells and skin-constituting cells. Semaphorin 4A (Sema4A), an immune semaphorin, is known to take part in T helper type 1/17 differentiation and a…
View article: Validation of the Index for Facial Angiofibromas: Data analysis from a randomized controlled trial of sirolimus gel treatment in patients with tuberous sclerosis complex
Validation of the Index for Facial Angiofibromas: Data analysis from a randomized controlled trial of sirolimus gel treatment in patients with tuberous sclerosis complex Open
The Index for Facial Angiofibromas (IFA), a novel scoring system for angiofibromas, has been validated in patients with tuberous sclerosis complex (TSC). The objective of this analysis was to further validate the IFA using data from a clin…
View article: Downregulation of Semaphorin 4A in keratinocytes reflects the features of non-lesional psoriasis
Downregulation of Semaphorin 4A in keratinocytes reflects the features of non-lesional psoriasis Open
Psoriasis is a multifactorial disorder mediated by IL-17-producing T cells, involving immune cells and skin-constituting cells. Semaphorin 4A (Sema4A), an immune semaphorin, is known to take part in T helper type 1/17 differentiation and a…
View article: Tuberous Sclerosis Complex
Tuberous Sclerosis Complex Open
Tuberous sclerosis complex (TSC) is an autosomal dominant inherited disease characterized by systemic hamartomas, neuropsychiatric symptoms known as TAND (TSC-associated neuropsychiatric disorders), and vitiligo. These symptoms are attribu…
View article: Table of contents
Table of contents Open
with known cutaneous melanoma.Therefore, they should be managed according to similar strategies.
View article: Neuroinflammation and Microglial Polarity: Sirolimus Shifts Microglial Polarity to M2 phenotype in a Mouse Model of Tuberous Sclerosis Complex
Neuroinflammation and Microglial Polarity: Sirolimus Shifts Microglial Polarity to M2 phenotype in a Mouse Model of Tuberous Sclerosis Complex Open
autism, anxiety, attention-deficit hyperactivity disorder (ADHD), and aggressive or disruptive behaviors, which are referred to as TSC-associated neuropsychiatric disorder (TAND) [2][3][4].The TuberOus SClerosis registry to increase diseas…
View article: Validation of the Index for Facial Angiofibromas: A new scoring tool to assess facial angiofibromas in the tuberous sclerosis complex
Validation of the Index for Facial Angiofibromas: A new scoring tool to assess facial angiofibromas in the tuberous sclerosis complex Open
To the Editor: More than 90% of patients with tuberous sclerosis complex develop facial angiofibromas (FAs) that can cause substantial disfigurement.1Wataya-Kaneda M. Nagai H. Ohno Y. et al.Safety and efficacy of the sirolimus gel for TSC …
View article: Abnormal White Matter Microstructure in the Limbic System Is Associated With Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders
Abnormal White Matter Microstructure in the Limbic System Is Associated With Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders Open
Objective Tuberous sclerosis complex (TSC) is a genetic disease that arises from TSC1 or TSC2 abnormalities and induces the overactivation of the mammalian/mechanistic target of rapamycin pathways. The neurological symptoms of TSC include …
View article: The two faces of mast cells in vitiligo pathogenesis
The two faces of mast cells in vitiligo pathogenesis Open
Aim: Previously, we reported increased number of T helper 17 (Th17) cells in vitiligo. However, in our recent study, tryptase and interleukin (IL)17 double positive cells which identified by polyclonal anti-IL17 antibody with specificity f…
View article: Distribution of hypomelanotic macules in tuberous sclerosis complex: A retrospective cohort study
Distribution of hypomelanotic macules in tuberous sclerosis complex: A retrospective cohort study Open
To the Editor: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by hamartomas in different organs at various stages of life. Most patients with TSC have skin lesions, such as angiofibromas, fibrous c…
View article: Successful High-Dose Radiation Treatment for Chemo-Resistant Oral Squamous Cell Carcinoma in a Kindler's Syndrome Patient
Successful High-Dose Radiation Treatment for Chemo-Resistant Oral Squamous Cell Carcinoma in a Kindler's Syndrome Patient Open
View article: A case of eosinophilic pustular folliculitis presenting as papuloerythroderma of Ofuji‐like eruption
A case of eosinophilic pustular folliculitis presenting as papuloerythroderma of Ofuji‐like eruption Open
We report a case of eosinophilic pustular folliculitis which showed pruritic erythroderma-like eruption with deck-chair sign, peripheral eosinophilia and elevated serum levels of IgE and TARC, mimicking papuloerythroderma of Ofuji.
View article: A case of zonisamide-induced toxic epidermal necrolysis with acute respiratory failure
A case of zonisamide-induced toxic epidermal necrolysis with acute respiratory failure Open
View article: Safety and Efficacy of the Sirolimus Gel for TSC Patients With Facial Skin Lesions in a Long-Term, Open-Label, Extension, Uncontrolled Clinical Trial
Safety and Efficacy of the Sirolimus Gel for TSC Patients With Facial Skin Lesions in a Long-Term, Open-Label, Extension, Uncontrolled Clinical Trial Open
View article: Asian Case of Metastatic Melanoma in Which a Complete Response Was Maintained after Discontinuation of Dabrafenib and Trametinib
Asian Case of Metastatic Melanoma in Which a Complete Response Was Maintained after Discontinuation of Dabrafenib and Trametinib Open
A 54-year-old man diagnosed with metastatic melanoma of the right inguinal node with occult primary developed liver and bone metastases. The combination of dabrafenib plus trametinib was initiated, and a complete response (CR) was achieved…
View article: A case of malignant melanoma with shrinking metastases after sequential severe irAEs
A case of malignant melanoma with shrinking metastases after sequential severe irAEs Open
Dear Editor, While immune checkpoint inhibitors (ICIs) have changed the treatment paradigm for advanced malignant melanoma,1, 2 they have the potential to cause various immune-related side effects, including—but not limited to—enteritis, i…
View article: Case of X‐linked hypohidrotic ectodermal dysplasia, along with facial bilateral reticular pigmentation
Case of X‐linked hypohidrotic ectodermal dysplasia, along with facial bilateral reticular pigmentation Open
A novel phenotype of facial bilateral reticular pigmentation accompanied with severe xerotic dermatitis was found in a patient with X-linked hypohidrotic ectodermal dysplasia (XLHED). A novel point mutation p.C346R in EDA gene was identifi…
View article: Epilepsy in a melanocyte-lineage mTOR hyperactivation mouse model: A novel epilepsy model
Epilepsy in a melanocyte-lineage mTOR hyperactivation mouse model: A novel epilepsy model Open
This study suggests that our melanocyte-lineage mTOR hyperactivation mouse is a novel animal model of epilepsy, which may promote the progress of both epilepsy and neurophysiology research.
View article: Characteristic distribution of the skin lesions in Tuberous Sclerosis Complex.
Characteristic distribution of the skin lesions in Tuberous Sclerosis Complex. Open
Background:Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder, andresults from mutations of either TSC1 or TSC2 gene. They encode hamartin andtuberin respectively and were discovered in the 1990s, improving the diag…
View article: Morphological and functional analysis on M3R mediated sweating in TSC1 k/o mouse
Morphological and functional analysis on M3R mediated sweating in TSC1 k/o mouse Open
Sox13 is a novel marker for hair follicle development and differentiationNoto M, Noguchi N, Manabe M, and Osada S-IDepartment of Dermatology and Plastic Surgery, Akita University Graduate School of Medicine, Akita, JapanThe Sry-related hig…
View article: 554 Sirolimus gel effectively reduced neurofibromas in neurofibromatosis type 1 in a double-blind, placebo-controlled, randomized clinical trial
554 Sirolimus gel effectively reduced neurofibromas in neurofibromatosis type 1 in a double-blind, placebo-controlled, randomized clinical trial Open
View article: A Rare Case of Small Bowel Intussusception Due to Metastatic Malignant Melanoma
A Rare Case of Small Bowel Intussusception Due to Metastatic Malignant Melanoma Open
The small intestine is sometimes metastasized by malignant melanoma. While small intestinal involvement is asymptomatic or usually nonspecific, intussusception causing intestinal obstruction is very rare. Herein we report the case of a 68-…