Sublocalization of the Papillon-Lefevre syndrome locus on 11q14-q21

Hart, Thomas C.; Bowden, Donald W.; Abdel-Ghaffar, Khaled; Wang, Wei; Cutler, Christopher W.; Cebeci, İrfan; Efeoglu, Ahmet; Fıratlı, Erhan

doi:10.1002/(sici)1096-8628(19980901)79:2<134::aid-ajmg9>3.0.co;2-q

Cited by 56 publications

(43 citation statements)

References 25 publications

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“…31,32 In 1999, Hart et al 33 identified a germline missense and truncating mutations in the gene encoding cathepsin C (or dipeptidyl aminopeptidase I), a lysosomal cysteine proteinase that plays an important role in intracellular degradation of proteins in families with PLS. Cathepsin C is an enzyme that processes and activates several granule serine proteases critical to immune and inflammatory responses of myeloid and lymphoid cells.…”

Section: Discussionmentioning

confidence: 99%

Pyogenic Liver Abscess and Papillon-Lefèvre Syndrome: Not a Rare Association

Almuneef¹,

Khenaizan

Ajaji³

et al. 2003

Pediatrics

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ABSTRACT. Papillon-Lefèvre syndrome is a rare, autosomal recessive disease comprising palmoplantar keratoderma and periodontitis. Pyogenic liver abscess is an increasingly recognized complication. We report a new case of this association and review the current literature. Pediatrics 2003;111:e85-e88. URL: http://www.pediatrics. org/cgi/content/full/111/1/e85; Papillon-Lefèvre syndrome, liver abscess.

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Section: Discussionmentioning

confidence: 99%

Pyogenic Liver Abscess and Papillon-Lefèvre Syndrome: Not a Rare Association

Almuneef¹,

Khenaizan

Ajaji³

et al. 2003

Pediatrics

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“…Three independent groups (Fischer et al, 1997;Laass et al, 1997;Hart et al, 1998b) Several examples of complex conditions of importance to the dental community include oral clefting, adult periodontitis, oral squamous cell carcinoma, and dental caries. Identification of the molecular targets of environmental agents will help us understand the disease process and develop appropriate treatment strategies.…”

Section: Defining Medical Disciplinesmentioning

confidence: 99%

The Impact of Molecular Genetics on Oral Health Paradigms

Hart

Marazita

Wright

2000

Critical Reviews in Oral Biology & Medicine

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As a result of our increased understanding of the human genome, and the functional interrelationships of gene products with each other and with the environment, it is becoming increasingly evident that many human diseases are influenced by heritable alterations in the structure or function of genes. Significant advances in research methods and newly emerging partnerships between private and public sector interests are creating new possibilities for utilization of genetic information for the diagnosis and treatment of human diseases. The availability and application of genetic information to the understanding of normal and abnormal human growth and development are fundamentally changing the way we approach the study of human diseases. As a result, the issues and principles of medical genetics are coming to bear across all disciplines of health care. In this review, we discuss some of the potential applications of human molecular genetics for the diagnosis and treatment of oral diseases. This discussion is presented in the context of the ongoing technological advances and conceptual changes that are occurring in the field of medical genetics. To realize the promise of this new molecular genetics, we must be prepared to foresee the possibilities and to incorporate these newly emergent technologies into the evolving discipline of dentistry. By using examples of human conditions, we illustrate the broad application of this emerging technology to the study of simple as well as complex genetic diseases. Throughout this paper, we will use the following terminology: Penetrance In a population, defined as the proportion of individuals posessing a disease-causing genotype who express the disease phenotype. When this proportion is less than 100%, the disease is said to have reduced or incomplete penetrance. Polymerase chain reaction (PCR)-A technique for amplifying a large number of copies of a specific DNA sequence flanked by two oligonucleotide primers. The DNA is alternately heated and cooled in the presence of DNA polymerase and free nucleotides, so that the specified DNA segment is denatured, hybridized with primers, and extended by DNA polymerase. MIM-Mendelian Inheritance in Man catalogue number from V. McKusick's Mendelian Inheritance in man (OMIM, 1998).

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“…These proteases are implicated in a wide variety of innate and adaptive immune processes, which might explain a general increased susceptibility to infections in about 25% of PLS patients (Góngora et al, 1994). The PLS locus has been mapped to chromosome 11q14-q21 band (Fischer et al, 1997;Laass et al, 1997;Hart et al, 1998); CTSC gene spans 4.7 kb and encodes a 463-amino acid polypeptide that consists of 7 exons. The sequence analysis of CTSC gene from subjects that belong to consanguineous families and were affected with PLS and HMS revealed homozygous sequence changes in all the patients (Toomes et al, 1999;Hart et al, 1999Hart et al, , 2000aHart et al, , 2000b.…”

Section: Introductionmentioning

confidence: 99%