Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis
about
Cathespin H is an Fgf10 target involved in Bmp4 degradation during lung branching morphogenesisIdentification and characterization of a novel retroviral-like aspartic protease specifically expressed in human epidermisMutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesionLysosomal cysteine proteases: facts and opportunities.Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefèvre syndrome patientsHaim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin CLocalisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutationIdentification of cathepsin C mutations in ethnically diverse papillon-Lefèvre syndrome patientsImportance of lysosomal cysteine proteases in lung diseaseMutation analysis of the cathepsin C gene in Indian families with Papillon-Lefèvre syndromePrimary immunodeficiencies associated with eosinophiliaPapillon-Lefèvre syndrome: clinical presentation and management optionsCongenital defects in neutrophil dynamicsTetrameric dipeptidyl peptidase I directs substrate specificity by use of the residual pro-part domainStructure of human dipeptidyl peptidase I (cathepsin C): exclusion domain added to an endopeptidase framework creates the machine for activation of granular serine proteasesThe 2.2-A crystal structure of human pro-granzyme K reveals a rigid zymogen with unusual featuresClinical, genetic, and biochemical findings in two siblings with Papillon-Lefèvre SyndromeDescription of two new cathepsin C gene mutations in patients with Papillon-Lefèvre syndromeComputational identification of uncharacterized cruzain binding sitesGenome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes.Lysosomal degradation of cholecystokinin-(29-33)-amide in mouse brain is dependent on tripeptidyl peptidase-I: implications for the degradation and storage of peptides in classical late-infantile neuronal ceroid lipofuscinosis.Differential cerebral cortex transcriptomes of baboon neonates consuming moderate and high docosahexaenoic acid formulas.Bacterial invasion and persistence: critical events in the pathogenesis of periodontitis?CTSC and Papillon-Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database updatePapillon-Lefevre syndrome: Reporting consanguinity as a risk factorNeuronal loss and brain atrophy in mice lacking cathepsins B and LThe relationship between periodontal diseases and diabetes: an overview.Ectodermal dysplasias: not only 'skin' deep.Neutrophil elastase, proteinase 3, and cathepsin G as therapeutic targets in human diseases.The role of cathepsin E in terminal differentiation of keratinocytes.Lack of cathelicidin processing in Papillon-Lefèvre syndrome patients reveals essential role of LL-37 in periodontal homeostasisGenetic predisposition to periodontitis in children and young adults.Proteases, neutrophils, and periodontitis: the NET effectPapillon-Lefèvre syndrome patient reveals species-dependent requirements for neutrophil defensesTowards specific functions of lysosomal cysteine peptidases: phenotypes of mice deficient for cathepsin B or cathepsin L.Expression of cathepsin L and its inhibitor hurpin in inflammatory and neoplastic skin diseases.Identification of novel mutation in cathepsin C gene causing Papillon-Lefèvre Syndrome in Mexican patients.Antimicrobial peptides in the oral environment: expression and function in health and disease.Cysteine peptidases of mammals: their biological roles and potential effects in the oral cavity and other tissues in health and disease.
P2860
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P2860
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis
description
1999 nî lūn-bûn
@nan
1999 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Loss-of-function mutations in ...... ase and palmoplantar keratosis
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Loss-of-function mutations in ...... ase and palmoplantar keratosis
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Loss-of-function mutations in ...... ase and palmoplantar keratosis
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Loss-of-function mutations in ...... ase and palmoplantar keratosis
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type
label
Loss-of-function mutations in ...... ase and palmoplantar keratosis
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Loss-of-function mutations in ...... ase and palmoplantar keratosis
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Loss-of-function mutations in ...... ase and palmoplantar keratosis
@en-gb
Loss-of-function mutations in ...... ase and palmoplantar keratosis
@nl
prefLabel
Loss-of-function mutations in ...... ase and palmoplantar keratosis
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Loss-of-function mutations in ...... ase and palmoplantar keratosis
@en
Loss-of-function mutations in ...... ase and palmoplantar keratosis
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Loss-of-function mutations in ...... ase and palmoplantar keratosis
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P2093
P50
P3181
P356
P1433
P1476
Loss-of-function mutations in ...... ase and palmoplantar keratosis
@en
P2093
Hussein IR
McCormick D
Moynihan L
Pemberton M
P2888
P304
P3181
P356
10.1038/70525
P407
P577
1999-12-01T00:00:00Z