List of works - Toshifumi Nomura

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

scientific article published on 10 April 2017

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

scientific article (publication date: 2013)

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

scientific article published on 8 August 2016

A solitary reddish nodule on the lower leg.

scientific article

Alopecia Induced by Timolol Eye-drops.

scientific article

Altered balance of epidermis-related chemokines in epidermolysis bullosa

scientific article published on 5 January 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.

scientific article

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

scientific article published on 26 March 2009

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

scientific article published on 16 October 2006

Apocrine mixed tumour on the abdomen: an atypical location.

scientific article published on 16 January 2018

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

scientific article published on 22 July 2017

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

scientific article published in January 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.

scientific article published on 22 March 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

scientific article published on 01 April 2017

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

scientific article published on 13 August 2016

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

scientific article published on 10 October 2018

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

scientific article published on 28 January 2014

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

scientific article published on 23 January 2017

Dermoscopic features of Bednar tumor: Report of a case.

scientific article published on 16 January 2018

Dermoscopic observation in adenoma of the nipple.

scientific article

Dermoscopy of pseudoxanthoma elasticum-like papillary dermal elastolysis.

scientific article published on October 2013

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

scientific article published on 16 January 2018

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

scientific article published on 01 October 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

scientific article published on 21 June 2017

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

scientific article

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

scientific article published in December 2017

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

scientific article published in August 2016

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

scientific article published on 07 August 2009

Filaggrin Mutation in Korean Patients with Atopic Dermatitis.

scientific article published on March 2017

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

scientific article published on 25 January 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

scientific article published on 16 June 2017

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

scientific article published on 23 June 2016

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

scientific article

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

scientific article published on 14 October 2012

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

scientific article published on 22 September 2014

Hypertrophic lupus erythematosus successfully treated with hydroxychloroquine.

scientific article

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

scientific article

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

scientific article published on 19 August 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

scientific article

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

scientific article published on 27 February 2017

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

scientific article published on 28 April 2015

Massive petechiae as an initial symptom of Waldenström's macroglobulinemia

scientific article published on 08 January 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.

scientific article published in January 2016

Non-solar-induced elastotic bands on the forearm

scientific article published on 01 September 2015

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

scientific article published on 25 March 2018

Papuloerythroderma of Ofuji associated with early gastric cancer

scientific article published on 01 June 2008

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

scientific article published on 19 October 2016

Plasma cell cheilitis extending beyond vermillion border.

scientific article published on 16 June 2015

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

scientific article published on 09 October 2015

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

scientific article published on May 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

scientific article published on 01 July 2015

Psoriasiform mycosis fungoides masquerading as tumourous plaques

scientific article published on 01 June 2017

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

scientific article published on 11 December 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.

scientific article

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

scientific article published on 01 February 2014

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

scientific article published on 07 June 2016

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

scientific article published on 01 April 2016

Secondary syphilis mimicking warts in an HIV-positive patient

scientific article published on 01 October 2009

Silicone medical adhesive removers for hyperkeratosis in epidermolysis bullosa.

scientific article

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

scientific article published on 01 September 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

scientific article published on 09 October 2015

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

scientific article published on 31 May 2017

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

scientific article published on 19 December 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.

scientific article published on 20 November 2016

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

scientific article

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

scientific article published on 23 January 2017

Tuberculoid reaction to a cosmetic tattoo on the lips.

scientific article published in September 2015

Tubular apocrine adenoma clinically and dermoscopically mimicking basal cell carcinoma

scientific article published on August 2014

Type VII Collagen Deficiency Causes Defective Tooth Enamel Formation due to Poor Differentiation of Ameloblasts ⬇️

scientific article published on August 31, 2012

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

scientific article

Usefulness of dermoscopy in distinguishing benign lesions from angiosarcoma

scientific article published on 22 May 2017

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

scientific article published on 24 September 2015

List of works by 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.