Mendelian forms of periodontitis (Q36938531)

17 August 2017

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title

Mendelian forms of periodontitis (English)

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17 August 2017

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Thomas C Hart

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17 August 2017

Jane C Atkinson

series ordinal

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17 August 2017

publication date

1 January 2007

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17 August 2017

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17 August 2017

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17 August 2017

page(s)

95-112

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Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation

17 August 2017

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Classifying periodontal diseases--a long-standing dilemma

21 January 2018

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Leukocyte adhesion molecules deficiency: its structural basis, pathophysiology and implications for modulating the inflammatory response

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Oral manifestations of primary immunological diseases.

21 January 2018

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Ehlers-Danlos syndrome (EDS) type IV: review of the literature

21 January 2018

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Neutropenia: causes and consequences

21 January 2018

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Clinical, genetic, and biochemical findings in two siblings with Papillon-Lefèvre Syndrome

21 January 2018

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Implications of the Human Genome Project for medical science.

21 January 2018

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Self-reported periodontal disease in a Virginia twin population

21 January 2018

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A novel mutation of the cathepsin C gene in Papillon-Lefèvre syndrome

21 January 2018

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A homozygous cathepsin C mutation associated with Haim-Munk syndrome

21 January 2018

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Systemic disease and periodontitis: manifestations of neutrophil dysfunction

21 January 2018

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Loss-of-function mutations in cathepsin C in two families with Papillon-Lefèvre syndrome are associated with deficiency of serine proteinases in PMNs

21 January 2018

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Human antimicrobial peptides: defensins, cathelicidins and histatins

21 January 2018

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Identification of a nonsense mutation in the granulocyte-colony-stimulating factor receptor in severe congenital neutropenia

21 January 2018

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Dentin phosphoprotein compound mutation in dentin sialophosphoprotein causes dentinogenesis imperfecta type III.

21 January 2018

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Gfi-1 Oncoproteins in Hematopoiesis

21 January 2018

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Leukocyte adhesion deficiency II-from A to almost Z.

21 January 2018

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Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation

21 January 2018

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THE SYNDROME OF PALMAR-PLANTAR HYPERKERATOSIS AND PREMATURE PERIODONTAL DESTRUCTION OF THE TEETH. A CLINICAL AND GENETIC ANALYSIS OF THE PAPILLON-LEF'EVRE SYNDROME.

21 January 2018

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Detection of high-risk groups and individuals for periodontal diseases. Clinical assessment of the periodontium

21 January 2018

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KERATOSIS PALMO-PLANTARIS CONGENITA, WITH PERIODONTOSIS, ARACHNODACTYLY AND A PECULIAR DEFORMITY OF THE TERMINAL PHALANGES

21 January 2018

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Neutrophil defects as risk factors for periodontal diseases

21 January 2018

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Genetic factors in the pathogenesis of periodontitis

21 January 2018

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Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C

21 January 2018

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Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation

21 January 2018

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Identification of cathepsin C mutations in ethnically diverse papillon-Lefèvre syndrome patients

21 January 2018

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Phenotypic overlap of Ehlers-Danlos syndrome types IV and VIII.

21 January 2018

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Delayed separation of the umbilical cord, widespread infections, and defective neutrophil mobility

21 January 2018

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The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis.

21 January 2018

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Gfi-1 restricts proliferation and preserves functional integrity of haematopoietic stem cells

21 January 2018

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Genetic predisposition to periodontitis in children and young adults

21 January 2018

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Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.

21 January 2018

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Neutrophil elastase in cyclic and severe congenital neutropenia

21 January 2018

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Characterization of a family with dominant hypophosphatasia.

21 January 2018

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Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome

21 January 2018

1 reference

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The genetic basis of periodontitis

21 January 2018

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HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

21 January 2018

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Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels

21 January 2018

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Localized aggressive periodontitis is linked to human chromosome 1q25.

21 January 2018

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Ehlers-Danlos syndrome presenting with juvenile destructive periodontitis

21 January 2018

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ELAM-1-dependent cell adhesion to vascular endothelium determined by a transfected human fucosyltransferase cDNA

21 January 2018

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Evidence for autosomal dominant inheritance and race-specific heterogeneity in early-onset periodontitis

21 January 2018

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Diabetes mellitus and periodontal diseases

21 January 2018

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Periodontal findings in adult twins

21 January 2018

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From genetics to genomics: using gene-based medicine to prevent disease and promote health in children

21 January 2018

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Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome

21 January 2018

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Papillon-Lefèvre syndrome: mutations and polymorphisms in the cathepsin C gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0757.2007.00233.X

Periodontal diseases: pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0757.2007.00233.X

Treatment of periodontal disease in a patient with Ehlers-Danlos syndrome. A case report and literature review

21 January 2018

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Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1600-0757.2007.00233.X

Papillon-Lefèvre syndrome: correlating the molecular, cellular, and clinical consequences of cathepsin C/dipeptidyl peptidase I deficiency in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0757.2007.00233.X

Deficiency of antibacterial peptides in patients with morbus Kostmann: an observation study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0757.2007.00233.X

Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0757.2007.00233.X

Congenital neutropenia and primary immunodeficiency disorders: a survey of 26 Iranian patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0757.2007.00233.X

Generation of multiple stable dermcidin-derived antimicrobial peptides in sweat of different body sites

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0757.2007.00233.X

The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0757.2007.00233.X

Gingival epithelial cell expression of macrophage inflammatory protein-1alpha induced by interleukin-1beta and lipopolysaccharide

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0757.2007.00233.X

Influence of risk factors on the pathogenesis of periodontitis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0757.2007.00233.X

Associations between periodontal disease and risk for atherosclerosis, cardiovascular disease, and stroke. A systematic review.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0757.2007.00233.X

Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0757.2007.00233.X

Adhesion receptors of the immune system

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0757.2007.00233.X

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0757.2007.00233.X

10.1111/J.1600-0757.2007.00233.X

21 January 2018

Identifiers

DOI

1 reference

17 August 2017

1 reference