-
1
-
-
0035260448
-
Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation
-
Allende LM, Gareia-Perez MA, Moreno A, Corell A, Carasol M, Martinez-Canut P, et al. (2001). Cathepsin C gene: first compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation. Hum Mutai 17:152-153.
-
(2001)
Hum Mutai
, vol.17
, pp. 152-153
-
-
Allende, L.M.1
Gareia-Perez, M.A.2
Moreno, A.3
Corell, A.4
Carasol, M.5
Martinez-Canut, P.6
-
2
-
-
0037689598
-
Consensus report: Aggressive periodontitis
-
American Academy of Periodontology
-
American Academy of Periodontology (1999). Consensus report: aggressive periodontitis. Ann Periodontal 4:53.
-
(1999)
Ann Periodontal
, vol.4
, pp. 53
-
-
-
3
-
-
4444343709
-
Loss-of-function mutations in cathepsin C in two families with Papillon-Lefèvre syndrome are associated with deficiency of serine proteinases in PMNs
-
de Haar SF, Jansen DC, Schoenmaker T, De Vree H, Everts V, Beertsen W (2004). Loss-of-function mutations in cathepsin C in two families with Papillon-Lefèvre syndrome are associated with deficiency of serine proteinases in PMNs. Hum Mutat 23:524.
-
(2004)
Hum Mutat
, vol.23
, pp. 524
-
-
de Haar, S.F.1
Jansen, D.C.2
Schoenmaker, T.3
De Vree, H.4
Everts, V.5
Beertsen, W.6
-
4
-
-
33748042966
-
Role of polymorphonuclear leukocyte-derived serine proteinases in defense against Actinobacillus actinomyeetemcomitans
-
de Haar SF, Hicmstra PS, van Steenbergen MT, Everts V, Beertsen W (2006). Role of polymorphonuclear leukocyte-derived serine proteinases in defense against Actinobacillus actinomyeetemcomitans. Infect Immun 74:5284-5291.
-
(2006)
Infect Immun
, vol.74
, pp. 5284-5291
-
-
de Haar, S.F.1
Hicmstra, P.S.2
van Steenbergen, M.T.3
Everts, V.4
Beertsen, W.5
-
5
-
-
0019289394
-
The probability of losing an allele when diploid genotypes are sampled
-
Gregorius H-R (1980). The probability of losing an allele when diploid genotypes are sampled. Biometrics 36: 643-652.
-
(1980)
Biometrics
, vol.36
, pp. 643-652
-
-
Gregorius, H.-R.1
-
6
-
-
0034528706
-
Identification of cathepsin C mutations in ethnically diverse Papillon-Lefèvre syndrome patients
-
Hart PS, Zhang Y, Firatli E, Uygur C, Lotfazar M, Michalec MD et al. (2000). Identification of cathepsin C mutations in ethnically diverse Papillon-Lefèvre syndrome patients. J Med Genet 37:927-932.
-
(2000)
J Med Genet
, vol.37
, pp. 927-932
-
-
Hart, P.S.1
Zhang, Y.2
Firatli, E.3
Uygur, C.4
Lotfazar, M.5
Michalec, M.D.6
-
7
-
-
0033455594
-
Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome
-
Hart TC, Hart PS, Bowden DW, Michalec MD, Callison SA, Walker SJ et al. (1999). Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome. J Med Genet 36:881-887.
-
(1999)
J Med Genet
, vol.36
, pp. 881-887
-
-
Hart, T.C.1
Hart, P.S.2
Bowden, D.W.3
Michalec, M.D.4
Callison, S.A.5
Walker, S.J.6
-
8
-
-
0034011450
-
Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation
-
Hart TC, Hart PS, Michalec MD, Zhang Y, Marazita ML, Cooper M, et al. (2000), Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation. J Med Genet 37:95 101.
-
(2000)
J Med Genet
, vol.37
, pp. 95-101
-
-
Hart, T.C.1
Hart, P.S.2
Michalec, M.D.3
Zhang, Y.4
Marazita, M.L.5
Cooper, M.6
-
9
-
-
12144286503
-
The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis
-
Hewitt C, McCormiek D, Linden G, Turk D, Stem I, Wallace I, et al. (2004). The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis. Hum Mutat 23:222-228.
-
(2004)
Hum Mutat
, vol.23
, pp. 222-228
-
-
Hewitt, C.1
McCormiek, D.2
Linden, G.3
Turk, D.4
Stem, I.5
Wallace, I.6
-
10
-
-
0035224480
-
Genetic predisposition to periodontitis in children and young adults
-
Hodge P, Michalowicz B (2001). Genetic predisposition to periodontitis in children and young adults. Periodontal 2000 26:113-134.
-
(2001)
Periodontal 2000
, vol.26
, pp. 113-134
-
-
Hodge, P.1
Michalowicz, B.2
-
11
-
-
0642336935
-
Genes and gene polymorphisms associated with periodontal disease
-
Kinane DF, Hart TC (2003). Genes and gene polymorphisms associated with periodontal disease. Crit Rev Oral Biol Med 14:430-449.
-
(2003)
Crit Rev Oral Biol Med
, vol.14
, pp. 430-449
-
-
Kinane, D.F.1
Hart, T.C.2
-
12
-
-
25844465700
-
Identification of genetic risk factors for periodontitis and possible mechanisms of action
-
Loos BG, John RP, Laine ML (2005). Identification of genetic risk factors for periodontitis and possible mechanisms of action. J Clin Periodontal 32(Suppl 6): 159479.
-
(2005)
J Clin Periodontal
, vol.32
, Issue.SUPPL. 6
, pp. 159479
-
-
Loos, B.G.1
John, R.P.2
Laine, M.L.3
-
14
-
-
33646394866
-
A family with Papillon-Lefèvre syndrome reveals a requirement for cathepsin C in granzyme B activation and NK cell cytolytic activity
-
Meade JL, de Wynter EA, Brett P, Sharif SM, Woods CG , Markham AF, et al. (2006). A family with Papillon-Lefèvre syndrome reveals a requirement for cathepsin C in granzyme B activation and NK cell cytolytic activity. Blood 107:3665-3668.
-
(2006)
Blood
, vol.107
, pp. 3665-3668
-
-
Meade, J.L.1
de Wynter, E.A.2
Brett, P.3
Sharif, S.M.4
Woods, C.G.5
Markham, A.F.6
-
15
-
-
0032530165
-
Tests and estimates of allelic association in complex inheritance
-
Morton NE, Collins A (1998). Tests and estimates of allelic association in complex inheritance. Proc Natl Acad Sci USA 95:11389-11393.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 11389-11393
-
-
Morton, N.E.1
Collins, A.2
-
16
-
-
0035112906
-
Papillon-Lefèvre syndrome: Mutations and polymorphisms in the cathepsin C gene
-
Nakano A, Nomura K, Nakano H, Ono Y, LaPorgia S, Pulkkinen L, et al. (2001). Papillon-Lefèvre syndrome: mutations and polymorphisms in the cathepsin C gene. J Invest Dermatol 116: 339-343.
-
(2001)
J Invest Dermatol
, vol.116
, pp. 339-343
-
-
Nakano, A.1
Nomura, K.2
Nakano, H.3
Ono, Y.4
LaPorgia, S.5
Pulkkinen, L.6
-
17
-
-
2442701902
-
Novel mutations in the cathepsin C gene in patients with prc-pubcrtal aggressive periodontitis and Papillon-Lefèvre syndrome
-
Noack B, Görgens H, Hoffmann T, Fanghänel J, Kocher T, Eickholz P, et al. (2004). Novel mutations in the cathepsin C gene in patients with prc-pubcrtal aggressive periodontitis and Papillon-Lefèvre syndrome. J Dent Res 83:368-370.
-
(2004)
J Dent Res
, vol.83
, pp. 368-370
-
-
Noack, B.1
Görgens, H.2
Hoffmann, T.3
Fanghänel, J.4
Kocher, T.5
Eickholz, P.6
-
18
-
-
0032755732
-
Paths of glorious proteases
-
Nuckolls GH, Slavkin HC (1999). Paths of glorious proteases. Nat Genet 23:378-380.
-
(1999)
Nat Genet
, vol.23
, pp. 378-380
-
-
Nuckolls, G.H.1
Slavkin, H.C.2
-
19
-
-
0031152116
-
Advances in the pathogenesis of periodontitis: Summary of developments, clinical implications and future directions
-
Page RC, Offenbacher S, Schrocder HE, Seymour GJ, Kornman KS (1997). Advances in the pathogenesis of periodontitis: summary of developments, clinical implications and future directions. Periodontal 2000 14:216-248.
-
(1997)
Periodontal 2000
, vol.14
, pp. 216-248
-
-
Page, R.C.1
Offenbacher, S.2
Schrocder, H.E.3
Seymour, G.J.4
Kornman, K.S.5
-
20
-
-
0033587689
-
Dipeptidyl peptidase I is required for the processing and activation of granzymes A and B in vivo
-
Pham CT, Ley TJ (1999). Dipeptidyl peptidase I is required for the processing and activation of granzymes A and B in vivo. Proc Natl Acad Sci USA 96: 8627-8632.
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 8627-8632
-
-
Pham, C.T.1
Ley, T.J.2
-
21
-
-
10344234724
-
Papillon-Lefèvre syndrome: Correlating the molecular, cellular, and clinical consequences of cathepsin C/dipeptidyl peptidase I deficiency in humans
-
Pham CT, Ivanovich JL, Raptis SZ, Zehnbauer B, Ley TJ (2004). Papillon-Lefèvre syndrome: correlating the molecular, cellular, and clinical consequences of cathepsin C/dipeptidyl peptidase I deficiency in humans. J Immunol 173: 7277-7281.
-
(2004)
J Immunol
, vol.173
, pp. 7277-7281
-
-
Pham, C.T.1
Ivanovich, J.L.2
Raptis, S.Z.3
Zehnbauer, B.4
Ley, T.J.5
-
22
-
-
0036008954
-
Cathepsin C, matrix metallo-proteinases, and their tissue inhibitors in gingiva and gingival crevicular fluid from periodontitis-affected patients
-
Soell M, Elkaim R, Tenenbaum H (2002). Cathepsin C, matrix metallo-proteinases, and their tissue inhibitors in gingiva and gingival crevicular fluid from periodontitis-affected patients. J Dent Res 81:174-178.
-
(2002)
J Dent Res
, vol.81
, pp. 174-178
-
-
Soell, M.1
Elkaim, R.2
Tenenbaum, H.3
-
23
-
-
33750196383
-
SNP-based analysis of genetic substructure in the German population
-
Steffens M, Lamina C, Illig T, Bettecken T, Vogler R, Entz P, et al. (2006): SNP-based analysis of genetic substructure in the German population. Hum Hered 62:20-29.
-
(2006)
Hum Hered
, vol.62
, pp. 20-29
-
-
Steffens, M.1
Lamina, C.2
Illig, T.3
Bettecken, T.4
Vogler, R.5
Entz, P.6
-
24
-
-
0032709548
-
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplanar keratosis
-
Toomes C, James J, Wood AJ, Wu CL, McCormiek D, Lench N, et al (1999). Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplanar keratosis. Nat Genet 23:421-424.
-
(1999)
Nat Genet
, vol.23
, pp. 421-424
-
-
Toomes, C.1
James, J.2
Wood, A.J.3
Wu, C.L.4
McCormiek, D.5
Lench, N.6
-
25
-
-
17944366493
-
Structure of human dipeptidyl peptidase I (cathepsin C): Exclusion domain added to an endopeptidase framework creates the machine for activation of granular serine proteases
-
Turk D, Janjic V, Stem I, Podobnik M, Lamba D, Dahl SW, et al. (2001), Structure of human dipeptidyl peptidase I (cathepsin C): exclusion domain added to an endopeptidase framework creates the machine for activation of granular serine proteases. EMBO J 20:6570-6582.
-
(2001)
EMBO J
, vol.20
, pp. 6570-6582
-
-
Turk, D.1
Janjic, V.2
Stem, I.3
Podobnik, M.4
Lamba, D.5
Dahl, S.W.6
-
26
-
-
0036633684
-
Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon-Lefèvre syndrome
-
Zhang Y, Hart PS, Morctti AJ, Bouwsma OJ, Fisher EM, Dudlicek L, et al. (2002). Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon-Lefèvre syndrome. Hum Mulat 20:75.
-
(2002)
Hum Mulat
, vol.20
, pp. 75
-
-
Zhang, Y.1
Hart, P.S.2
Morctti, A.J.3
Bouwsma, O.J.4
Fisher, E.M.5
Dudlicek, L.6
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