Lista de obras - Toshifumi Nomura - Dominio Público Uruguay

A case of recessive dystrophic epidermolysis bullosa with a novel c.6885_6898del14 mutation in the COL7A1 gene.

artículo científico publicado en 2017

A lack of premature termination codon read-through efficacy of PTC124 (Ataluren) in a diverse array of reporter assays

artículo científico publicado en 2013

A severe case of X-linked ichthyosis showing palmar hyperlinearity without FLG mutations

artículo científico publicado en 2016

A solitary reddish nodule on the lower leg.

artículo científico publicado en 2017

Alopecia Induced by Timolol Eye-drops.

artículo científico publicado en 2017

Altered balance of epidermis-related chemokines in epidermolysis bullosa

artículo científico publicado en 2017

Amicrobial pustulosis associated with IgA nephropathy and Sjögren's syndrome

scientific article published on 28 June 2007

An annexin A1-FPR1 interaction contributes to necroptosis of keratinocytes in severe cutaneous adverse drug reactions.

artículo científico publicado en 2014

Analysis of Taiwanese ichthyosis vulgaris families further demonstrates differences in FLG mutations between European and Asian populations.

artículo científico publicado en 2009

Animation as a useful tool for assessing functional status in psoriatic arthritis

artículo científico publicado en 2006

Apocrine mixed tumour on the abdomen: an atypical location.

artículo científico publicado en 2018

Appearance of antidesmocollin 1 autoantibodies leading to a vegetative lesion in a patient with pemphigus vulgaris

artículo científico publicado en 2017

Association of infantile cutaneous haemangioma on the face and neck with respiratory distress in infancy.

artículo científico publicado en 2004

Case of epidermolytic ichthyosis with impairment of pulmonary function and exacerbated skin manifestations in a late middle-aged adult

scientific article published on 09 September 2019

Chromosomal inversions as a hidden disease-modifying factor for somatic recombination phenotypes.

artículo científico publicado en 2018

Clinical Severity Correlates with Impaired Barrier in Filaggrin-Related Eczema

scientific article published on 25 September 2008

Complete remission of angiolymphoid hyperplasia with eosinophilia using topical tacrolimus

artículo científico publicado en 2017

Compound heterozygotes for filaggrin gene mutations do not always show severe atopic dermatitis

artículo científico publicado en 2016

Compound heterozygous missense mutations p.Leu207Pro and p.Tyr544Cys in TGM1 cause a severe form of lamellar ichthyosis

artículo científico publicado en 2018

Comprehensive screening for a complete set of Japanese-population-specific filaggrin gene mutations

artículo científico publicado en 2014

Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in SDR9C7.

artículo científico publicado en 2017

Dermoscopic features of Bednar tumor: Report of a case.

artículo científico publicado en 2018

Dermoscopic observation in adenoma of the nipple.

artículo científico publicado en 2015

Dermoscopy of pseudoxanthoma elasticum-like papillary dermal elastolysis.

artículo científico publicado en 2013

Disseminated fusariosis emerged from prolonged local genital infection after cord blood transplantation

artículo científico publicado en 2018

Distinct behavior of human Langerhans cells and inflammatory dendritic epidermal cells at tight junctions in patients with atopic dermatitis

artículo científico publicado en 2014

Efficient Gene Reframing Therapy for Recessive Dystrophic Epidermolysis Bullosa with CRISPR/Cas9

article

Eosinophilic annular erythema is clinically characterized by central pigmentation reflecting basal melanosis: a clinicopathological study of 10 cases

artículo científico publicado en 2017

Erythrokeratoderma Variabilis Caused by p.Gly45Glu in Connexin 31: Importance of the First Extracellular Loop Glycine Residue for Gap Junction Function.

artículo científico publicado en 2015

Establishment of integration-free induced pluripotent stem cells from human recessive dystrophic epidermolysis bullosa keratinocytes

artículo científico publicado en 2017

Extensive Erythema and Hyperkeratosis on the Extremities and Lumbar Area as an Unusual Mani-festation of Nagashima-type Palmoplantar Keratosis.

artículo científico publicado en 2016

FLGmutation p.Lys4021X in the C-terminal imperfect filaggrin repeat in Japanese patients with atopic eczema

artículo científico publicado en 2009

Filaggrin Mutation in Korean Patients with Atopic Dermatitis.

artículo científico publicado en 2017

Filaggrin gene mutations may influence the persistence of food allergies in Japanese primary school children.

artículo científico publicado en 2018

First case of symmetrical acral keratoderma in Japan with filaggrin mutation who showed marked improvement in skin manifestations using moisturizer

scientific article published on 18 May 2020

Generalized Pustular Psoriasis

artículo científico publicado en 2017

Genetic analysis of a novel splice-site mutation in TMC8 reveals the in vivo importance of the transmembrane channel-like domain of TMC8.

artículo científico publicado en 2016

Gentamicin-induced readthrough and nonsense-mediated mRNA decay of SERPINB7 nonsense mutant transcripts.

artículo científico publicado en 2017

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.

artículo científico publicado en 2012

Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis.

artículo científico publicado en 2014

Hypertrophic lupus erythematosus successfully treated with hydroxychloroquine.

artículo científico publicado en 2016

Identification of SERPINB7 mutations in Korean patients with Nagashima-type palmoplantar keratosis.

artículo científico publicado en 2016

Identification of previously unknown SERPINB7 splice variants in patients with Nagashima-type palmoplantar keratosis reveals the importance of the CD-loop of SERPINB7

artículo científico publicado en 2015

Intraepidermal neutrophilic IgA pemphigus successfully treated with dapsone

scientific article published on 01 March 2012

Japanese-specific filaggrin gene mutations in Japanese patients suffering from atopic eczema and asthma

artículo científico publicado en 2010

Late-onset skin involvement on the forehead in multicentric Castleman disease

artículo científico publicado en 2017

Low-dose etretinate shows promise in management of punctate palmoplantar keratoderma type 1: Case report and review of the published work

artículo científico

Massive petechiae as an initial symptom of Waldenström's macroglobulinemia

artículo científico publicado en 2016

Mild recessive bullous congenital ichthyosiform erythroderma due to a previously unidentified homozygous keratin 10 nonsense mutation

scientific article published on 24 January 2008

Nodular morphoea: a first case associated with linear morphoea.

artículo científico publicado en 2016

Non-solar-induced elastotic bands on the forearm

artículo científico publicado en 2015

Novel COL7A1 mutation in a family with bullous dermolysis of the newborn: Phenotypic variability associated with a COL7A1 mutation within the same family

artículo científico publicado en 2018

Papuloerythroderma of Ofuji associated with early gastric cancer

artículo científico publicado en 2008

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

artículo científico publicado en 2016

Plasma cell cheilitis extending beyond vermillion border.

artículo científico publicado en 2015

Possible cases of Nagashima-type palmoplantar keratosis? Comment on the article by Guo et al

artículo científico publicado en 2015

Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis

artículo científico publicado en 2010

Prevalent and Rare Mutations in the Gene Encoding Filaggrin in Japanese Patients with Ichthyosis Vulgaris and Atopic Dermatitis

article

Pruritic Papules Following Lumbar Corset Use: A Quiz. Grover's disease

artículo científico publicado en 2015

Psoriasiform mycosis fungoides masquerading as tumourous plaques

artículo científico publicado en 2017

RNA recognition motif of LEMD3 as a key player in the pathogenesis of Buschke-Ollendorff syndrome.

artículo científico publicado en 2015

Rapid remission of severe pain from livedoid vasculopathy by apixaban

scientific article published on 11 May 2016

Rapid remission of severe pruritus from angiolymphoid hyperplasia with eosinophilia by pulsed dye laser therapy.

artículo científico publicado en 2003

Recurrent course and CD30 expression of atypical T lymphocytes distinguish lymphomatoid papulosis from primary cutaneous aggressive epidermotropic CD8+ cytotoxic T-cell lymphoma

scientific article published on 01 September 2014

Refractory juvenile psoriatic uveitis without arthritis: a literature review

scientific article published on 23 December 2019

Repeated skin sampling and prolonged incubation period identified cutaneous Mycobacterium chelonae infection on the face in an immunocompetent man

artículo científico publicado en 2014

Revertant Mosaicism in Ichthyosis with Confetti Caused by a Frameshift Mutation in KRT1

artículo científico publicado en 2016

Safety of ustekinumab for the treatment of psoriasis vulgaris with myotonic dystrophy

artículo científico publicado en 2016

Secondary syphilis mimicking warts in an HIV-positive patient

artículo científico publicado en 2009

Silicone medical adhesive removers for hyperkeratosis in epidermolysis bullosa.

artículo científico publicado en 2016

Solitary tumour on the neck: a quiz. Cutaneous Rosai-Dorfman disease

artículo científico publicado en 2014

Somatic recombination underlies frequent revertant mosaicism in loricrin keratoderma

article

Specific Filaggrin Mutations Cause Ichthyosis Vulgaris and Are Significantly Associated with Atopic Dermatitis in Japan

scientific article published on 17 January 2008

Speckled lentiginous nevus in a patient with Hermansky-Pudlak syndrome type 1

scientific article published on 17 October 2019

Striate palmoplantar keratoderma: Report of a novel DSG1 mutation and atypical clinical manifestations

artículo científico publicado en 2015

Subcutaneous Nodule on the Right Palm of a Young Boy: A Quiz.

artículo científico publicado en 2017

Symmetrical acral keratoderma: A waxing and waning scaly pigmented skin lesions on the acral extremities

artículo científico publicado en 2020

The development of induced pluripotent stem cell-derived mesenchymal stem/stromal cells from normal human and RDEB epidermal keratinocytes

scientific article published on 18 June 2018

The first familial cases of epidermolysis bullosa simplex, generalized severe with p.Asn176Ser in KRT5 revealing the clinical chronology.

artículo científico publicado en 2016

The β9 loop domain of PA-PLA1α has a crucial role in autosomal recessive woolly hair/hypotrichosis.

artículo científico publicado en 2012

Thymoma-associated multi-organ autoimmunity: two cases and a review of the literature

artículo científico publicado en 2017

Tuberculoid reaction to a cosmetic tattoo on the lips.

artículo científico publicado en 2015

Tubular apocrine adenoma clinically and dermoscopically mimicking basal cell carcinoma

artículo científico publicado en 2014

Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis

artículo científico publicado en 2007

Usefulness of dermoscopy in distinguishing benign lesions from angiosarcoma

artículo científico publicado en 2017

Warts in toe webs associated with human papillomavirus type 7: a specific cutaneous manifestation of this type?

artículo científico publicado en 2015

Lista de obras de Toshifumi Nomura

A case of recessive dystrophic epidermolysis bullosa with a novel c.6885_6898del14 mutation in the COL7A1 gene.

A lack of premature termination codon read-through efficacy of PTC124 (Ataluren) in a diverse array of reporter assays

A severe case of X-linked ichthyosis showing palmar hyperlinearity without FLG mutations

A solitary reddish nodule on the lower leg.

Alopecia Induced by Timolol Eye-drops.

Altered balance of epidermis-related chemokines in epidermolysis bullosa

Amicrobial pustulosis associated with IgA nephropathy and Sjögren's syndrome

An annexin A1-FPR1 interaction contributes to necroptosis of keratinocytes in severe cutaneous adverse drug reactions.

Analysis of Taiwanese ichthyosis vulgaris families further demonstrates differences in FLG mutations between European and Asian populations.

Animation as a useful tool for assessing functional status in psoriatic arthritis

Apocrine mixed tumour on the abdomen: an atypical location.

Appearance of antidesmocollin 1 autoantibodies leading to a vegetative lesion in a patient with pemphigus vulgaris

Association of infantile cutaneous haemangioma on the face and neck with respiratory distress in infancy.

Case of epidermolytic ichthyosis with impairment of pulmonary function and exacerbated skin manifestations in a late middle-aged adult

Chromosomal inversions as a hidden disease-modifying factor for somatic recombination phenotypes.

Clinical Severity Correlates with Impaired Barrier in Filaggrin-Related Eczema

Complete remission of angiolymphoid hyperplasia with eosinophilia using topical tacrolimus

Compound heterozygotes for filaggrin gene mutations do not always show severe atopic dermatitis

Compound heterozygous missense mutations p.Leu207Pro and p.Tyr544Cys in TGM1 cause a severe form of lamellar ichthyosis

Comprehensive screening for a complete set of Japanese-population-specific filaggrin gene mutations

Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in SDR9C7.

Dermoscopic features of Bednar tumor: Report of a case.

Dermoscopic observation in adenoma of the nipple.

Dermoscopy of pseudoxanthoma elasticum-like papillary dermal elastolysis.

Disseminated fusariosis emerged from prolonged local genital infection after cord blood transplantation

Distinct behavior of human Langerhans cells and inflammatory dendritic epidermal cells at tight junctions in patients with atopic dermatitis

Efficient Gene Reframing Therapy for Recessive Dystrophic Epidermolysis Bullosa with CRISPR/Cas9

Eosinophilic annular erythema is clinically characterized by central pigmentation reflecting basal melanosis: a clinicopathological study of 10 cases

Erythrokeratoderma Variabilis Caused by p.Gly45Glu in Connexin 31: Importance of the First Extracellular Loop Glycine Residue for Gap Junction Function.

Establishment of integration-free induced pluripotent stem cells from human recessive dystrophic epidermolysis bullosa keratinocytes

Extensive Erythema and Hyperkeratosis on the Extremities and Lumbar Area as an Unusual Mani-festation of Nagashima-type Palmoplantar Keratosis.

FLGmutation p.Lys4021X in the C-terminal imperfect filaggrin repeat in Japanese patients with atopic eczema

Filaggrin Mutation in Korean Patients with Atopic Dermatitis.

Filaggrin gene mutations may influence the persistence of food allergies in Japanese primary school children.

First case of symmetrical acral keratoderma in Japan with filaggrin mutation who showed marked improvement in skin manifestations using moisturizer

Generalized Pustular Psoriasis

Genetic analysis of a novel splice-site mutation in TMC8 reveals the in vivo importance of the transmembrane channel-like domain of TMC8.

Gentamicin-induced readthrough and nonsense-mediated mRNA decay of SERPINB7 nonsense mutant transcripts.

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.

Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis.

Hypertrophic lupus erythematosus successfully treated with hydroxychloroquine.

Identification of SERPINB7 mutations in Korean patients with Nagashima-type palmoplantar keratosis.

Identification of previously unknown SERPINB7 splice variants in patients with Nagashima-type palmoplantar keratosis reveals the importance of the CD-loop of SERPINB7

Intraepidermal neutrophilic IgA pemphigus successfully treated with dapsone

Japanese-specific filaggrin gene mutations in Japanese patients suffering from atopic eczema and asthma

Late-onset skin involvement on the forehead in multicentric Castleman disease

Low-dose etretinate shows promise in management of punctate palmoplantar keratoderma type 1: Case report and review of the published work

Massive petechiae as an initial symptom of Waldenström's macroglobulinemia

Mild recessive bullous congenital ichthyosiform erythroderma due to a previously unidentified homozygous keratin 10 nonsense mutation

Nodular morphoea: a first case associated with linear morphoea.

Non-solar-induced elastotic bands on the forearm

Novel COL7A1 mutation in a family with bullous dermolysis of the newborn: Phenotypic variability associated with a COL7A1 mutation within the same family

Papuloerythroderma of Ofuji associated with early gastric cancer

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

Plasma cell cheilitis extending beyond vermillion border.

Possible cases of Nagashima-type palmoplantar keratosis? Comment on the article by Guo et al

Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis

Prevalent and Rare Mutations in the Gene Encoding Filaggrin in Japanese Patients with Ichthyosis Vulgaris and Atopic Dermatitis

Pruritic Papules Following Lumbar Corset Use: A Quiz. Grover's disease

Psoriasiform mycosis fungoides masquerading as tumourous plaques

RNA recognition motif of LEMD3 as a key player in the pathogenesis of Buschke-Ollendorff syndrome.

Rapid remission of severe pain from livedoid vasculopathy by apixaban

Rapid remission of severe pruritus from angiolymphoid hyperplasia with eosinophilia by pulsed dye laser therapy.

Recurrent course and CD30 expression of atypical T lymphocytes distinguish lymphomatoid papulosis from primary cutaneous aggressive epidermotropic CD8+ cytotoxic T-cell lymphoma

Refractory juvenile psoriatic uveitis without arthritis: a literature review

Repeated skin sampling and prolonged incubation period identified cutaneous Mycobacterium chelonae infection on the face in an immunocompetent man

Revertant Mosaicism in Ichthyosis with Confetti Caused by a Frameshift Mutation in KRT1

Safety of ustekinumab for the treatment of psoriasis vulgaris with myotonic dystrophy

Secondary syphilis mimicking warts in an HIV-positive patient

Silicone medical adhesive removers for hyperkeratosis in epidermolysis bullosa.

Solitary tumour on the neck: a quiz. Cutaneous Rosai-Dorfman disease

Somatic recombination underlies frequent revertant mosaicism in loricrin keratoderma

Specific Filaggrin Mutations Cause Ichthyosis Vulgaris and Are Significantly Associated with Atopic Dermatitis in Japan

Speckled lentiginous nevus in a patient with Hermansky-Pudlak syndrome type 1

Striate palmoplantar keratoderma: Report of a novel DSG1 mutation and atypical clinical manifestations

Subcutaneous Nodule on the Right Palm of a Young Boy: A Quiz.

Symmetrical acral keratoderma: A waxing and waning scaly pigmented skin lesions on the acral extremities

The development of induced pluripotent stem cell-derived mesenchymal stem/stromal cells from normal human and RDEB epidermal keratinocytes

The first familial cases of epidermolysis bullosa simplex, generalized severe with p.Asn176Ser in KRT5 revealing the clinical chronology.