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Literature DB >> 9673173

Papillon-Lefèvre syndrome.

T C Hart¹, L Shapira.

Abstract

Entities: Disease

Mesh：

Year: 1994 PMID： 9673173 DOI： 10.1111/j.1600-0757.1994.tb00029.x

Source DB: PubMed Journal: Periodontol 2000 ISSN： 0906-6713 Impact factor: 7.589

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22 in total

1. Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome.

Authors: T C Hart; P S Hart; D W Bowden; M D Michalec; S A Callison; S J Walker; Y Zhang; E Firatli
Journal: J Med Genet Date: 1999-12 Impact factor: 6.318

2. A microbiological study of Papillon-Lefévre syndrome in two patients.

Authors: K L Robertson; D B Drucker; J James; A S Blinkhorn; S Hamlet; P S Bird
Journal: J Clin Pathol Date: 2001-05 Impact factor: 3.411

3. Novel cathepsin C mutation in a Brazilian family with Papillon-Lefèvre syndrome: case report and mutation update.

Authors: Debora Pallos; Ana Carolina Acevedo; Heliana Dantas Mestrinho; Ilia Cordeiro; Thomas C Hart
Journal: J Dent Child (Chic) Date: 2010 Jan-Apr

Review 4. Primary immunodeficiencies reveal the essential role of tissue neutrophils in periodontitis.

Authors: Lakmali M Silva; Laurie Brenchley; Niki M Moutsopoulos
Journal: Immunol Rev Date: 2019-01 Impact factor: 12.988

5. Consequences of cathepsin C inactivation for membrane exposure of proteinase 3, the target antigen in autoimmune vasculitis.

Authors: Seda Seren; Maha Rashed Abouzaid; Claudia Eulenberg-Gustavus; Josefine Hirschfeld; Hala Nasr Soliman; Uwe Jerke; Koffi N'Guessan; Sandrine Dallet-Choisy; Adam Lesner; Conni Lauritzen; Beate Schacher; Peter Eickholz; Nikoletta Nagy; Marta Szell; Cécile Croix; Marie-Claude Viaud-Massuard; Abdullah Al Farraj Aldosari; Shivanna Ragunatha; Mostafa Ibrahim Mostafa; Francesca Giampieri; Maurizio Battino; Hélène Cornillier; Gérard Lorette; Jean-Louis Stephan; Cyril Goizet; John Pedersen; Francis Gauthier; Dieter E Jenne; Sylvain Marchand-Adam; Iain L Chapple; Ralph Kettritz; Brice Korkmaz
Journal: J Biol Chem Date: 2018-06-20 Impact factor: 5.157

Papillon-Lefèvre syndrome.

1. Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome.

2. A microbiological study of Papillon-Lefévre syndrome in two patients.

3. Novel cathepsin C mutation in a Brazilian family with Papillon-Lefèvre syndrome: case report and mutation update.

Review 4. Primary immunodeficiencies reveal the essential role of tissue neutrophils in periodontitis.

5. Consequences of cathepsin C inactivation for membrane exposure of proteinase 3, the target antigen in autoimmune vasculitis.

6. Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C.

7. Papillon-Lefevre syndrome (PLS) without cathepsin C mutation: A rare early onset partially penetrant variant of PLS.

8. DPPI may activate KLK4 during enamel formation.

Review 9. Cathepsin G: roles in antigen presentation and beyond.

10. Papillon-Lefèvre syndrome and squamous cell carcinoma: a case report.