Identification of cathepsin C mutations in ethnically diverse papillon-Lefèvre syndrome patients
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Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefèvre syndrome patientsMutation analysis of the cathepsin C gene in Indian families with Papillon-Lefèvre syndromeProteolysis of macrophage inflammatory protein-1alpha isoforms LD78beta and LD78alpha by neutrophil-derived serine proteasesClinical, genetic, and biochemical findings in two siblings with Papillon-Lefèvre SyndromeDescription of two new cathepsin C gene mutations in patients with Papillon-Lefèvre syndromeCTSC and Papillon-Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database updateAre proteinase 3 and cathepsin C enzymes related to pathogenesis of periodontitis?Papillon-Lefevre syndrome: Reporting consanguinity as a risk factorIdentification of novel mutation in cathepsin C gene causing Papillon-Lefèvre Syndrome in Mexican patients.Syndromic immunodeficiencies: genetic syndromes associated with immune abnormalities.Informational paper: implications of genetic technology for the management of periodontal diseases.Up-regulation of microglial cathepsin C expression and activity in lipopolysaccharide-induced neuroinflammation.Genetic studies of craniofacial anomalies: clinical implications and applicationsNovel cathepsin C mutation in a Brazilian family with Papillon-Lefèvre syndrome: case report and mutation updateEffect of genetic variability on the inflammatory response to periodontal infection.Neutrophil serine proteases fine-tune the inflammatory responseMendelian forms of periodontitis.Papillon-lefevre syndrome: Case series and review of literature.Free-thiol Cys331 exposed during activation process is critical for native tetramer structure of cathepsin C (dipeptidyl peptidase I).Inherited diseases caused by mutations in cathepsin protease genes.Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon-Lefevre syndrome in a Saudi family.A novel mutation of the cathepsin C gene in a thai family with Papillon-Lefevre syndrome.Elevated hydroperoxide levels and antioxidant patterns in Papillon-Lefèvre syndrome.Novel mutations in the cathepsin C gene in patients with pre-pubertal aggressive periodontitis and Papillon-Lefèvre syndrome.Periodontal treatment of patients with Papillon-Lefèvre syndrome: a 3-year follow-up.Complete homozygous deletion of CTSC in an Iranian family with Papillon-Lefèvre syndrome.The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis.Cytokines, matrix metalloproteinases and tissue inhibitor of metalloproteinases-1 in gingival crevicular fluid from patients with Papillon-Lefèvre syndrome.Cytokine production by leukocytes of Papillon-Lefèvre syndrome patients in whole blood cultures.One mutation, two phenotypes: a single nonsense mutation of the CTSC gene causes two clinically distinct phenotypes.Papillon-Lefèvre syndrome: report of six patients and identification of a novel mutation.Papillon-Lefèvre syndrome: Case report and review of the literature.Cathepsin C Gene Variants in Aggressive PeriodontitisCathepsin C Gene 5'-Untranslated Region Mutation in Papillon-Lefèvre Syndrome
P2860
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P2860
Identification of cathepsin C mutations in ethnically diverse papillon-Lefèvre syndrome patients
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2000 nî lūn-bûn
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2000 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի դեկտեմբերին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Identification of cathepsin C ...... llon-Lefèvre syndrome patients
@ast
Identification of cathepsin C ...... llon-Lefèvre syndrome patients
@en
Identification of cathepsin C ...... llon-Lefèvre syndrome patients
@nl
type
label
Identification of cathepsin C ...... llon-Lefèvre syndrome patients
@ast
Identification of cathepsin C ...... llon-Lefèvre syndrome patients
@en
Identification of cathepsin C ...... llon-Lefèvre syndrome patients
@nl
prefLabel
Identification of cathepsin C ...... llon-Lefèvre syndrome patients
@ast
Identification of cathepsin C ...... llon-Lefèvre syndrome patients
@en
Identification of cathepsin C ...... llon-Lefèvre syndrome patients
@nl
P2093
P2860
P356
P1476
Identification of cathepsin C ...... llon-Lefèvre syndrome patients
@en
P2093
B J Coates
D Williams
J T Wright
M D Michalec
M Lotfazar
P2860
P304
P356
10.1136/JMG.37.12.927
P407
P577
2000-12-01T00:00:00Z