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Variant PADI3 in Central Centrifugal Cicatricial Alopecia

The New England journal of medicine, 2019-02, Vol.380 (9), p.833-841 [Peer Reviewed Journal]

Copyright © 2019 Massachusetts Medical Society. All rights reserved. ;Copyright © 2019 Massachusetts Medical Society. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1816614 ;PMID: 30763140

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Title:
Variant PADI3 in Central Centrifugal Cicatricial Alopecia
Author: Malki, Liron ; Sarig, Ofer ; Romano, Maria-Teresa ; Méchin, Marie-Claire ; Peled, Alon ; Pavlovsky, Mor ; Warshauer, Emily ; Samuelov, Liat ; Uwakwe, Laura ; Briskin, Valeria ; Mohamad, Janan ; Gat, Andrea ; Isakov, Ofer ; Rabinowitz, Tom ; Shomron, Noam ; Adir, Noam ; Simon, Michel ; McMichael, Amy ; Dlova, Ncoza C ; Betz, Regina C ; Sprecher, Eli
Subjects: Adolescent ; Adult ; African Americans - genetics ; Age of Onset ; Alopecia ; Alopecia - ethnology ; Alopecia - genetics ; Analysis ; Arginine ; Arginine deiminase ; Baldness ; Biopsy ; Chi-Square Distribution ; Cicatrix - genetics ; Control ; Deoxyribonucleic acid ; DNA ; DNA sequencing ; Enzymatic activity ; Exome ; Female ; Gene expression ; Genes ; Genetic aspects ; Genetic Predisposition to Disease ; Genetic variance ; Genetic variation ; Genomics ; Grooming ; Hair ; Hair - growth & development ; Health aspects ; Heterozygote ; Human health and pathology ; Humans ; Immunoblotting ; Immunofluorescence ; Infectious diseases ; Life Sciences ; Localization ; Middle Aged ; Missense mutation ; Mutagenesis ; Mutation ; Pathogenesis ; Pathogenicity ; Patients ; Pedigree ; Post-translation ; Protein folding ; Protein-arginine deiminase ; Protein-Arginine Deiminase Type 3 ; Protein-Arginine Deiminases - genetics ; Protein-Arginine Deiminases - metabolism ; Replication ; Ribonucleic acid ; RNA ; Scalp ; Scalp - pathology ; Sequence Analysis, DNA ; Skin ; Women
Is Part Of: The New England journal of medicine, 2019-02, Vol.380 (9), p.833-841
Description: Central centrifugal cicatricial alopecia is a common form of scarring alopecia in women of African ancestry. This study uncovered a genetic susceptibility in approximately one third of the women studied: loss-of-function variants affecting the enzyme PADI3, which modifies proteins involved in hair growth.
Publisher: United States: Massachusetts Medical Society
Language: English
Identifier: ISSN: 0028-4793
EISSN: 1533-4406
DOI: 10.1056/NEJMoa1816614
PMID: 30763140
Source: ProQuest One Psychology
Hyper Article en Ligne (HAL) (Open Access)
MEDLINE
ProQuest Central

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Variant PADI3 in Central Centrifugal Cicatricial Alopecia

Copyright © 2019 Massachusetts Medical Society. All rights reserved. ;Copyright © 2019 Massachusetts Medical Society. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1816614 ;PMID: 30763140

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