title: Whole Genome Linkage Analysis Followed by Whole Exome Sequencing Identifies Nicastrin (NCSTN) as a Causative Gene in a Multiplex Family with γ-Secretase Spectrum of Autoinflammatory Skin Phenotypes.
authors.affiliation: Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
authors.forename: Mehrshid
authors.initials: M
authors.lastname: Faraji Zonooz
authors.affiliation: Clinical Research Unit, Afzalipoor Hospital, Kerman University of Medical Sciences, Kerman, Iran.
authors.forename: Farahnaz
authors.initials: F
authors.lastname: Sabbagh-Kermani
authors.affiliation: Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: Zohreh
authors.initials: Z
authors.lastname: Fattahi
authors.affiliation: Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: Mahsa
authors.initials: M
authors.lastname: Fadaee
authors.affiliation: Dalla Lana School of Public Health, University of Toronto, Toronto, Canada; Women's College Research Institute, University of Toronto, Toronto, Canada.
authors.forename: Mohammad Reza
authors.initials: MR
authors.lastname: Akbari
authors.affiliation: Leishmaniasis Research Center, Kerman University of Medical Sciences, Kerman, Iran.
authors.forename: Rezvan
authors.initials: R
authors.lastname: Amiri
authors.affiliation: Biotechnology Research Center, Department of Molecular Medicine, Pasteur Institute of Iran, Tehran, Iran; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
authors.forename: Hassan
authors.initials: H
authors.lastname: Vahidnezhad
authors.affiliation: Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
authors.forename: Jouni
authors.initials: J
authors.lastname: Uitto
authors.affiliation: Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: Hossein
authors.initials: H
authors.lastname: Najmabadi
authors.affiliation: Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran. Electronic address: arianakariminejad@yahoo.com.
authors.forename: Ariana
authors.initials: A
authors.lastname: Kariminejad
mesh_terms: D053829:Amyloid Precursor Protein Secretases / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D017497:Hidradenitis Suppurativa / Q000235:genetics*; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D010641:Phenotype; D000073359:Exome Sequencing
chemical_list: D008562:Membrane Glycoproteins; C413604:nicastrin protein; D053829:Amyloid Precursor Protein Secretases