Lista de obras -

A novel IL36RN/IL1F5 homozygous nonsense mutation, p.Arg10X, in a Japanese patient with adult-onset generalized pustular psoriasis

artículo científico publicado en 2012

A palindromic motif in the -2084 to -2078 upstream region is essential for ABCA12 promoter function in cultured human keratinocytes.

artículo científico publicado en 2014

Anti-PM/Scl antibodies are found in Japanese patients with various systemic autoimmune conditions besides myositis and scleroderma.

artículo científico publicado en 2015

Anti-p80 coilin autoantibodies react with a conserved epitope and are associated with anti-DFS70/LEDGF autoantibodies

artículo científico publicado en 2005

Autoantibodies to DFS70/LEDGF are increased in alopecia areata patients

artículo científico publicado en 2004

Autoantibody to thioredoxin reductase in an ovarian cancer patient

scientific article published on 01 January 1998

Autoantigenicity of DFS70 is restricted to the conformational epitope of C-terminal alpha-helical domain

artículo científico publicado en 2004

BetaKlotho is required for metabolic activity of fibroblast growth factor 21

artículo científico publicado en 2007

Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia

artículo científico publicado en 2017

Challenges to congenital genetic disorders with “RNA-targeting” chemical compounds ⬇️

artículo científico publicado el 9 de febrero de 2012

Design and synthesis of a potent inhibitor of class 1 DYRK kinases as a suppressor of adipogenesis

artículo científico publicado en 2015

Development of a novel selective inhibitor of the Down syndrome-related kinase Dyrk1A

artículo científico publicado en 2010

Discovery of novel immunostimulants by dendritic-cell-based functional screening.

artículo científico publicado en 2005

Epstein-Barr Virus-associated Natural Killer/T-cell Lymphoma in a Patient Receiving Therapy with Anti-Tumour Necrosis Factor and Thiopurine

artículo científico publicado en 2016

Establishment of an ELISA to detect anti-glycyl-tRNA synthetase antibody (anti-EJ), a serological marker of dermatomyositis/polymyositis and interstitial lung disease.

artículo científico publicado en 2014

HLA-associated production of anti-DFS70/LEDGF autoantibodies and systemic autoimmune disease

artículo científico publicado en 2006

High survival rate of harlequin ichthyosis in Japan

artículo científico publicado en 2014

Identification of novel pharmacological activities of an antifungal agent, nystatin, to promote dendritic cell maturation.

artículo científico publicado en 2006

IgE-independent pathophysiology of severe atopic dermatitis demonstrated in an IgE-deficient patient

artículo científico publicado en 2016

Image Gallery: Palmoplantar hyperkeratosis in dermatomyositis with anti-PM/Scl antibodies

artículo científico publicado en 2017

Image Gallery: Unilaterally dominant acrokeratoelastoidosis (punctate palmoplantar keratoderma type 3).

artículo científico publicado en 2017

Intravital imaging of IL-1beta production in skin.

artículo científico publicado en 2010

LEDGF/DFS70 activates the MK2/IL6/STAT3 pathway in HaCaT.

artículo científico publicado en 2011

Leucettines, a class of potent inhibitors of cdc2-like kinases and dual specificity, tyrosine phosphorylation regulated kinases derived from the marine sponge leucettamine B: modulation of alternative pre-RNA splicing.

artículo científico publicado en 2011

More than keratitis, ichthyosis, and deafness: multisystem effects of lethal GJB2 mutations

artículo científico publicado en 2018

Non-infectious Panniculitis during Hydroxyurea Therapy in a Patient with Myeloproliferative Disease

artículo científico publicado en 2015

Novel ABCA12 missense mutation p.Phe2144Ser underlies congenital ichthyosiform erythroderma ⬇️

artículo científico publicado el 19 de mayo de 2013

Nuclear envelope localization of Ran-binding protein 2 and Ran-GTPase-activating protein 1 in psoriatic epidermal keratinocytes

artículo científico publicado en 2014

Overexpression of LEDGF/DFS70 induces IL-6 via p38 activation in HaCaT cells, similar to that seen in the psoriatic condition.

artículo científico publicado en 2010

Pansclerotic morphea associated with hypohidrosis and anti-M3 muscarinic acetylcholine receptor antibodies

artículo científico publicado en 2017

Pigmented macules in Waardenburg syndrome type 2 due to KITLG mutation.

artículo científico publicado en 2017

Pityriasis Rubra Pilaris Type V as an Autoinflammatory Disease by CARD14 Mutations

artículo científico publicado en 2016

Possible roles of barrier-to-autointegration factor 1 in regulation of keratinocyte differentiation and proliferation.

artículo científico publicado en 2013

Regulation of fibroblast growth factor-23 signaling by klotho

scientific journal article

Revertant mutation releases confined lethal mutation, opening Pandora's box: a novel genetic pathogenesis

artículo científico publicado en 2014

Severe chilblain lupus is associated with heterozygous missense mutations of catalytic amino acids or their adjacent mutations in the exonuclease domains of 3'-repair exonuclease 1.

artículo científico publicado en 2012

Survey on patients with undiagnosed diseases in Japan: potential patient numbers benefiting from Japan's initiative on rare and undiagnosed diseases (IRUD)

artículo científico publicado en 2018

The majority of generalized pustular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin-36 receptor antagonist.

artículo científico publicado en 2013

Tissue-specific expression of betaKlotho and fibroblast growth factor (FGF) receptor isoforms determines metabolic activity of FGF19 and FGF21

artículo científico publicado en 2007

Unilateral generalized linear porokeratosis with nail dystrophy.

artículo científico publicado en 2015

Lista de obras de

A novel IL36RN/IL1F5 homozygous nonsense mutation, p.Arg10X, in a Japanese patient with adult-onset generalized pustular psoriasis

A palindromic motif in the -2084 to -2078 upstream region is essential for ABCA12 promoter function in cultured human keratinocytes.

Anti-PM/Scl antibodies are found in Japanese patients with various systemic autoimmune conditions besides myositis and scleroderma.

Anti-p80 coilin autoantibodies react with a conserved epitope and are associated with anti-DFS70/LEDGF autoantibodies

Autoantibodies to DFS70/LEDGF are increased in alopecia areata patients

Autoantibody to thioredoxin reductase in an ovarian cancer patient

Autoantigenicity of DFS70 is restricted to the conformational epitope of C-terminal alpha-helical domain

BetaKlotho is required for metabolic activity of fibroblast growth factor 21

Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia

Challenges to congenital genetic disorders with “RNA-targeting” chemical compounds ⬇️

Design and synthesis of a potent inhibitor of class 1 DYRK kinases as a suppressor of adipogenesis

Development of a novel selective inhibitor of the Down syndrome-related kinase Dyrk1A

Discovery of novel immunostimulants by dendritic-cell-based functional screening.

Epstein-Barr Virus-associated Natural Killer/T-cell Lymphoma in a Patient Receiving Therapy with Anti-Tumour Necrosis Factor and Thiopurine

Establishment of an ELISA to detect anti-glycyl-tRNA synthetase antibody (anti-EJ), a serological marker of dermatomyositis/polymyositis and interstitial lung disease.

HLA-associated production of anti-DFS70/LEDGF autoantibodies and systemic autoimmune disease

High survival rate of harlequin ichthyosis in Japan

Identification of novel pharmacological activities of an antifungal agent, nystatin, to promote dendritic cell maturation.

IgE-independent pathophysiology of severe atopic dermatitis demonstrated in an IgE-deficient patient

Image Gallery: Palmoplantar hyperkeratosis in dermatomyositis with anti-PM/Scl antibodies

Image Gallery: Unilaterally dominant acrokeratoelastoidosis (punctate palmoplantar keratoderma type 3).

Intravital imaging of IL-1beta production in skin.

LEDGF/DFS70 activates the MK2/IL6/STAT3 pathway in HaCaT.

Leucettines, a class of potent inhibitors of cdc2-like kinases and dual specificity, tyrosine phosphorylation regulated kinases derived from the marine sponge leucettamine B: modulation of alternative pre-RNA splicing.

More than keratitis, ichthyosis, and deafness: multisystem effects of lethal GJB2 mutations

Non-infectious Panniculitis during Hydroxyurea Therapy in a Patient with Myeloproliferative Disease

Novel ABCA12 missense mutation p.Phe2144Ser underlies congenital ichthyosiform erythroderma ⬇️

Nuclear envelope localization of Ran-binding protein 2 and Ran-GTPase-activating protein 1 in psoriatic epidermal keratinocytes

Overexpression of LEDGF/DFS70 induces IL-6 via p38 activation in HaCaT cells, similar to that seen in the psoriatic condition.

Pansclerotic morphea associated with hypohidrosis and anti-M3 muscarinic acetylcholine receptor antibodies

Pigmented macules in Waardenburg syndrome type 2 due to KITLG mutation.

Pityriasis Rubra Pilaris Type V as an Autoinflammatory Disease by CARD14 Mutations

Possible roles of barrier-to-autointegration factor 1 in regulation of keratinocyte differentiation and proliferation.

Regulation of fibroblast growth factor-23 signaling by klotho

Revertant mutation releases confined lethal mutation, opening Pandora's box: a novel genetic pathogenesis

Severe chilblain lupus is associated with heterozygous missense mutations of catalytic amino acids or their adjacent mutations in the exonuclease domains of 3'-repair exonuclease 1.

Survey on patients with undiagnosed diseases in Japan: potential patient numbers benefiting from Japan's initiative on rare and undiagnosed diseases (IRUD)

The majority of generalized pustular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin-36 receptor antagonist.

Tissue-specific expression of betaKlotho and fibroblast growth factor (FGF) receptor isoforms determines metabolic activity of FGF19 and FGF21

Unilateral generalized linear porokeratosis with nail dystrophy.