Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome-Reference-Cited by-同舟云学术

Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome

Published:2016-01-04 Issue:3 Volume:283 Page:498-509
ISSN:1742-464X
Container-title:FEBS Journal
language:en
Short-container-title:FEBS J

Author:

Hamon Yveline¹²³⁴,Legowska Monika⁵,Fergelot Patricia⁶⁷⁸,Dallet-Choisy Sandrine¹²,Newell Louise⁹,Vanderlynden Lise¹²,Kord Valeshabad Ali¹⁰,Acrich Karina¹¹,Kord Hadi¹²,Tsamakis Charalampos⁹,Morice-Picard Fanny¹³,Surplice Ian⁹,Zoidakis Jerome¹⁴,David Karen¹¹,Vlahou Antonia¹⁴,Ragunatha Shivanna¹⁵,Nagy Nikoletta¹⁶¹⁷¹⁸,Farkas Katalin¹⁶¹⁷¹⁸,Széll Márta¹⁶¹⁷¹⁸,Goizet Cyril⁶⁸,Schacher Beate¹⁹,Battino Maurizio²⁰²¹,Al Farraj Aldosari Abdullah²²,Wang Xinwen²³,Liu Yang²⁴,Marchand-Adam Sylvain¹²,Lesner Adam⁵,Kara Elodie²⁵,Korkmaz-Icöz Sevil²⁶,Moss Celia⁹²⁷,Eickholz Peter¹⁹,Taieb Alain¹³,Kavukcu Salih²⁸,Jenne Dieter E.³⁴,Gauthier Francis¹²,Korkmaz Brice¹²

Affiliation:

1. INSERM U-1100 “Centre d'Etude des Pathologies Respiratoires”; Tours France

2. Université François Rabelais; Tours France

3. Comprehensive Pneumology Center; Institute of Lung Biology and Disease (iLBD); German Center for Lung Research (DZL); Munich Germany

4. Max Planck Institute of Neurobiology; Planegg-Martinsried Germany

5. Faculty of Chemistry; University of Gdansk; Gdansk Poland

6. Service de Génétique Médicale; Hôpital Pellegrin; CHU Bordeaux; France

7. Centre de Référence des Anomalies du Développement Embryonnaire; Bordeaux France

8. INSERM U-1211; Laboratoire Maladies Rares: Génétique et Métabolisme; Université de Bordeaux; France

9. Birmingham Children's Hospital; UK

10. University of Colorado Denver; Aurora CO USA

11. Metropolitan Hospital Center; Medical Genetics Clinic; New York NY USA

12. Bone Joint and Connective Tissue Disease Research Center (BJCRC); Department of Rheumatology; Faculty of Medicine; Golestan University of Medical Sciences; Gorgan Iran

13. Centre de Référence pour les Maladies Rares de la Peau; Service de Dermatologie Adulte et Pédiatrique; CHU de Bordeaux and INSERM U-1035; University of Bordeaux; France

14. Biotechnology Division; Biomedical Research Foundation; Academy of Athens; Greece

15. Department of Dermatology, Venereology, and Leprosy; Sri Siddhartha Medical College; Tumkur India

16. Department of Medical Genetics; University of Szeged; Hungary

17. MTA SZTE Dermatological Research Group; University of Szeged; Hungary

18. Department of Dermatology and Allergology; University of Szeged; Hungary

19. Department of Periodontology; Johann Wolfgang Goethe-University Frankfurt; Germany

20. Department of Clinical Sciences; Università Politecnica delle Marche; Ancona Italy

21. Centre for Nutrition & Health; Universidad Europea del Atlantico; Santander Spain

22. Department of Prosthetic; College of Dentistry; King Saud University; Riyadh Kingdom of Saudi Arabia

23. Department of Oral Medicine and Periodontology; School of Stomatology; The Fourth Military Medical University; Xi'an Shaanxi China

24. Department of Periodontology; PLA 309 Hospital; Beijing China

25. ReproPharm; Centre INRA-Val de Loire; Domaine de l'Orfrasière; Nouzilly France

26. Department of Cardiac Surgery; Heidelberg University Hospital; Germany

27. University of Birmingham; Edgbaston UK

28. Division of Pediatric Nephrology; Department of Pediatrics; School of Medicine; Dokuz Eylül University; İzmir Turkey

Funder

Institut National de la Santé et de la Recherche Médicale

Seventh Framework Programme

Alexandre von Humboldt Foundation

Publisher

Wiley

Subject

Cell Biology,Molecular Biology,Biochemistry

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/febs.13605/fullpdf

Reference47 articles.

1. Mutations of the cathepsin C gene are responsible for Papillon-Lefevre syndrome;Hart;J Med Genet,1999

2. 2 Cases of symmetrically, familiarly palmar and plantar hyperkeratosis (Meleda disease) within brother and sister combined with severe dental alterations in both cases;Papillon;Bull Soc Fr Dermatol Syphiligr,1924

3. Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis;Toomes;Nat Genet,1999

4. The syndrome of palmar-plantar hyperkeratosis and premature periodontal destruction of the teeth. A clinical and genetic analysis of the Papillon-Lefevre syndrome;Gorlin;J Pediatr,1964

5. The Papillon-Lefevre syndrome: keratosis palmoplantaris with periodontopathy. Report of a case and review of the cases in the literature;Haneke;Hum Genet,1979

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