Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation

Franklin L. Zhong, Ons Mamaï, Lorenzo Sborgi, +31

Cell

InflammationCancer Susceptibility SyndromesAutoimmune DiseaseInflammasome ActivationImmunology +6

The Majority of Generalized Pustular Psoriasis without Psoriasis Vulgaris Is Caused by Deficiency of Interleukin-36 Receptor Antagonist

Kazumitsu Sugiura, Akemi TAKEMOTO, Michiya Yamaguchi, +23

Journal of Investigative Dermatology

InflammationInterleukin-36 Receptor AntagonistAutoimmune DiseaseGeneralized Pustular PsoriasisMedicine +7

Epithelial Inflammation Resulting from an Inherited Loss-of-Function Mutation in EGFR

Patrick Campbell, Penny E. Morton, Takuya Takeichi, +22

Journal of Investigative Dermatology

FibrosisEpithelial InflammationSignaling PathwayPathologyEpithelial-mesenchymal Interactions +5

Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory

Takuya Takeichi, L. Liu, Kenneth Fong, +9

British Journal of Dermatology

SDR9C7 catalyzes critical dehydrogenation of acylceramides for skin barrier formation

Takuya Takeichi, Tetsuya Hirabayashi, Yuki Miyasaka, +16

Journal of Clinical Investigation

Sdr9c7 MutationBiochemistryFatty AcidsNatural SciencesLipid Peroxidation +10

Pityriasis Rubra Pilaris Type V as an Autoinflammatory Disease by <i>CARD14</i> Mutations

Takuya Takeichi, Kazumitsu Sugiura, Toshifumi Nomura, +19

JAMA Dermatology

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

Takuya Takeichi, Antonio Torrelo, John Y.W. Lee, +23

Journal of Investigative Dermatology

Impact of next generation sequencing on diagnostics in a genetic skin disease clinic

Takuya Takeichi, Arti Nanda, Lu Liu, +9

Experimental Dermatology

Mutations in GRHL2 Result in an Autosomal-Recessive Ectodermal Dysplasia Syndrome

Gabriela Petrof, Arti Nanda, Jake Davey Howden, +15

The American Journal of Human Genetics

Autoinflammatory Keratinization Disease With Hepatitis and Autism Reveals Roles for JAK1 Kinase Hyperactivity in Autoinflammation

Takuya Takeichi, John Y.W. Lee, Yusuke Okuno, +12

Frontiers in Immunology