Filaggrin loss-of-function mutations are associated with enhanced expression of IL-1 cytokines in the stratum corneum of patients with atopic dermatitis and in a murine model of filaggrin deficiency

Sanja Kežić, Gráinne M. O’Regan, René Lutter, +14

Journal of Allergy and Clinical Immunology

Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations

Julie Soblet, J. Kangas, Marjut Nätynki, +26

Journal of Investigative Dermatology

Developmental AnomalySyndrome IsSomatic TekPathologyDermatology +3

The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia

Diana C. Blaydon, Yoshiyuki Ishii, Edel A. O’Toole, +12

Nature Genetics

Transcriptional RegulationDevelopmental BiologyDisease MechanismGeneticsGenomic Mechanism +7

The Neonatal Lupus Syndrome Associated with U₁RNP (nRNP) Antibodies

Thomas T. Provost, Rosemarie Watson, W. Ray Gammon, +3

New England Journal of Medicine

RheumatologyAutoimmune DiseaseSystemic Lupus ErythematosusAllergyLupus +12

Drug-Induced, Ro/SSA-Positive Cutaneous Lupus Erythematosus

Monika Srivastava, Adrienne Rencic, Gerardine M. Diglio, +7

Archives of Dermatology

Raman profiles of the stratum corneum define 3 filaggrin genotype–determined atopic dermatitis endophenotypes

Gráinne M. O’Regan, P. M. J. H. Kemperman, Aileen Sandilands, +9

Journal of Allergy and Clinical Immunology

One Hundred Anti-Ro (SS-A) Antibody Positive Patients: A 10-Year Follow-Up

Eva Simmons-OʼBrien, Suephy C. Chen, Rosemarie Watson, +4

Medicine

Author InformationMarc M.d.ImmunologyPopulation Health SciencesImmunotherapy +16

Analysis of the individual and aggregate genetic contributions of previously identified serine peptidase inhibitor Kazal type 5 (SPINK5), kallikrein-related peptidase 7 (KLK7), and filaggrin (FLG) polymorphisms to eczema risk

Stephan Weidinger, Hansjörg Baurecht, Stefan Wagenpfeil, +26

Journal of Allergy and Clinical Immunology

MedicineGeneticsGenetic EpidemiologyHuman PolymorphismGenetic Factor +7

Clinical Expression of Systemic Lupus Erythematosus in Patients with C4A Deficiency

Michelle Petri, Rosemarie Watson, Jerry A. Winkelstein, +1

Medicine

Co-Inheritance of Mutations in the Uroporphyrinogen Decarboxylase and Hemochromatosis Genes Accelerates the Onset of Porphyria Cutanea Tarda

Jennifer J. Brady, Andrew Roberts, Rhian Morgan, +9

Journal of Investigative Dermatology

BiologyNatural SciencesGeneticsHemochromatosis GenesGenetic Mechanism +8