about
Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitisA lack of premature termination codon read-through efficacy of PTC124 (Ataluren) in a diverse array of reporter assaysRapid remission of severe pruritus from angiolymphoid hyperplasia with eosinophilia by pulsed dye laser therapy.Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.Filaggrin Mutation in Korean Patients with Atopic Dermatitis.Dermoscopy of pseudoxanthoma elasticum-like papillary dermal elastolysis.Low-dose etretinate shows promise in management of punctate palmoplantar keratoderma type 1: Case report and review of the published work.Erythrokeratoderma Variabilis Caused by p.Gly45Glu in Connexin 31: Importance of the First Extracellular Loop Glycine Residue for Gap Junction Function.Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis.Comprehensive screening for a complete set of Japanese-population-specific filaggrin gene mutations.Tubular apocrine adenoma clinically and dermoscopically mimicking basal cell carcinoma.Japanese-specific filaggrin gene mutations in Japanese patients suffering from atopic eczema and asthma.Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis.The β9 loop domain of PA-PLA1α has a crucial role in autosomal recessive woolly hair/hypotrichosis.Gentamicin-induced readthrough and nonsense-mediated mRNA decay of SERPINB7 nonsense mutant transcripts.Disseminated fusariosis emerged from prolonged local genital infection after cord blood transplantation.Establishment of integration-free induced pluripotent stem cells from human recessive dystrophic epidermolysis bullosa keratinocytes.Analysis of Taiwanese ichthyosis vulgaris families further demonstrates differences in FLG mutations between European and Asian populations.Association of infantile cutaneous haemangioma on the face and neck with respiratory distress in infancy.A solitary reddish nodule on the lower leg.Dermoscopic features of Bednar tumor: Report of a case.Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in SDR9C7.Appearance of antidesmocollin 1 autoantibodies leading to a vegetative lesion in a patient with pemphigus vulgaris.Filaggrin gene mutations may influence the persistence of food allergies in Japanese primary school children.Apocrine mixed tumour on the abdomen: an atypical location.Warts in toe webs associated with human papillomavirus type 7: a specific cutaneous manifestation of this type?Altered balance of epidermis-related chemokines in epidermolysis bullosa.Pityriasis Rubra Pilaris Type V as an Autoinflammatory Disease by CARD14 Mutations.A severe case of X-linked ichthyosis showing palmar hyperlinearity without FLG mutations.Subcutaneous Nodule on the Right Palm of a Young Boy: A Quiz.Genetic analysis of a novel splice-site mutation in TMC8 reveals the in vivo importance of the transmembrane channel-like domain of TMC8.Extensive Erythema and Hyperkeratosis on the Extremities and Lumbar Area as an Unusual Mani-festation of Nagashima-type Palmoplantar Keratosis.Nodular morphoea: a first case associated with linear morphoea.RNA recognition motif of LEMD3 as a key player in the pathogenesis of Buschke-Ollendorff syndrome.A case of recessive dystrophic epidermolysis bullosa with a novel c.6885_6898del14 mutation in the COL7A1 gene.Plasma cell cheilitis extending beyond vermillion border.Tuberculoid reaction to a cosmetic tattoo on the lips.Dermoscopic observation in adenoma of the nipple.The first familial cases of epidermolysis bullosa simplex, generalized severe with p.Asn176Ser in KRT5 revealing the clinical chronology.Alopecia Induced by Timolol Eye-drops.
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Toshifumi Nomura
@ast
Toshifumi Nomura
@en
Toshifumi Nomura
@es
Toshifumi Nomura
@nl
type
label
Toshifumi Nomura
@ast
Toshifumi Nomura
@en
Toshifumi Nomura
@es
Toshifumi Nomura
@nl
prefLabel
Toshifumi Nomura
@ast
Toshifumi Nomura
@en
Toshifumi Nomura
@es
Toshifumi Nomura
@nl
P106
P1153
7403422265
P31
P496
0000-0002-9954-6446