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

Toshifumi Nomura, Aileen Sandilands, Masashi Akiyama, +10

Journal of Allergy and Clinical Immunology

Atopic DermatitisGenetic DisorderGeneticsPathogenesisUnique Mutations +7

Clinical Severity Correlates with Impaired Barrier in Filaggrin-Related Eczema

Ikue Nemoto‐Hasebe, Masashi Akiyama, Toshifumi Nomura, +3

Journal of Investigative Dermatology

OphthalmologyImpaired BarrierClinical DermatologyDermatologyMedicine

Impaired Epidermal Permeability Barrier in Mice Lacking <i>Elovl1</i>, the Gene Responsible for Very-Long-Chain Fatty Acid Production

Takayuki Sassa, Yusuke Ohno, Shotaro Suzuki, +9

Molecular and Cellular Biology

Lipid PeroxidationDermal StructureDermatologyCellular PhysiologyCraniofacial Development +20

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

Toshifumi Nomura, Masashi Akiyama, Aileen Sandilands, +8

Journal of Investigative Dermatology

Autoimmune DiseaseAtopic DermatitisPathogenesisPathologyClinical Dermatology +5

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

Kazue Yoshida, Akiharu Kubo, Harumi Fujita, +9

Journal of Allergy and Clinical Immunology

InflammationDistinct BehaviorAtopic DermatitisMedicineImmunology +6

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

Nao Saito, Hongjiang Qiao, Teruki Yanagi, +11

Science Translational Medicine

A Lack of Premature Termination Codon Read-Through Efficacy of PTC124 (Ataluren) in a Diverse Array of Reporter Assays

Stuart P. McElroy, Toshifumi Nomura, Leah S. Torrie, +4

PLoS Biology

Firefly LuciferaseImmunologyMolecular BiologyNucleic Acid Amplification TestReporter Assays +14

A group of atopic dermatitis without IgE elevation or barrier impairment shows a high Th1 frequency: Possible immunological state of the intrinsic type

Rieko Kabashima‐Kubo, Motonobu Nakamura, Jun‐ichi Sakabe, +12

Journal of Dermatological Science

InflammationAllergyAtopic DermatitisImmunologyAllergen +8

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

Elizabeth Pöhler, Ons Mamaï, Jennifer Hirst, +29

Nature Genetics

OphthalmologyHeterogeneous FormsPunctate Palmoplantar KeratodermaPathologyClinical Dermatology +5

<i>FLG</i>mutation p.Lys4021X in the C-terminal imperfect filaggrin repeat in Japanese patients with atopic eczema

Ikue Nemoto‐Hasebe, Masashi Akiyama, Toshifumi Nomura, +3

British Journal of Dermatology