title: Mutations in the γ-secretase genes NCSTN, PSENEN, and PSEN1 underlie rare forms of hidradenitis suppurativa (acne inversa).
authors.affiliation: Division of Genetics and Molecular Medicine, King's College London School of Medicine, London, UK.
authors.forename: Andrew E
authors.initials: AE
authors.lastname: Pink
authors.affiliation: Division of Genetics and Molecular Medicine, King's College London School of Medicine, London, UK.
authors.forename: Michael A
authors.initials: MA
authors.lastname: Simpson
authors.affiliation: St John's Institute of Dermatology, Guy's & St Thomas' NHS Foundation Trust, London, UK.
authors.forename: Nemesha
authors.initials: N
authors.lastname: Desai
authors.affiliation: Division of Genetics and Molecular Medicine, King's College London School of Medicine, London, UK.
authors.forename: Dimitra
authors.initials: D
authors.lastname: Dafou
authors.affiliation: Department of Cytogenetics, GSTS Pathology, London, UK.
authors.forename: Alison
authors.initials: A
authors.lastname: Hills
authors.affiliation: Division of Clinical Science, St George's University of London, London, UK.
authors.forename: Peter
authors.initials: P
authors.lastname: Mortimer
authors.affiliation: St John's Institute of Dermatology, Guy's & St Thomas' NHS Foundation Trust, London, UK.
authors.forename: Catherine H
authors.initials: CH
authors.lastname: Smith
authors.affiliation: Division of Genetics and Molecular Medicine, King's College London School of Medicine, London, UK; Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
authors.forename: Richard C
authors.initials: RC
authors.lastname: Trembath
authors.affiliation: Division of Genetics and Molecular Medicine, King's College London School of Medicine, London, UK. Electronic address: jonathan.barker@kcl.ac.uk.
authors.forename: Jonathan N W
authors.initials: JNW
authors.lastname: Barker
mesh_terms: D000328:Adult; D053829:Amyloid Precursor Protein Secretases / Q000235:genetics*; D018389:Codon, Nonsense / Q000235:genetics; D015331:Cohort Studies; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D018095:Germ-Line Mutation / Q000235:genetics; D006579:Heterozygote; D017497:Hidradenitis Suppurativa / Q000235:genetics*; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D053764:Presenilin-1 / Q000235:genetics*; D012720:Severity of Illness Index
chemical_list: D018389:Codon, Nonsense; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; C508853:PSEN1 protein, human; C469349:PSENEN protein, human; D053764:Presenilin-1; C413604:nicastrin protein; D053829:Amyloid Precursor Protein Secretases