Novel KLK4 and MMP20 Mutations Discovered by Whole-exome Sequencing

Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome

(2012) Anna Schossig et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in C4orf26, Encoding a Peptide with In Vitro Hydroxyapatite Crystal Nucleation and Growth Activity, Cause Amelogenesis Imperfecta

(2012) David A. Parry et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Target gene analyses of 39 amelogenesis imperfecta kindreds

(2012) Hui-Chen Chan et al.   EUROPEAN JOURNAL OF ORAL SCIENCES

Kallikrein-related peptidase 4, matrix metalloproteinase 20, and the maturation of murine and porcine enamel

(2012) Yuanyuan Hu et al.   EUROPEAN JOURNAL OF ORAL SCIENCES

Expression of kallikrein-related peptidase 4 in dental and non-dental tissues

(2012) James P. Simmer et al.   EUROPEAN JOURNAL OF ORAL SCIENCES

Enamel proteins and proteases in Mmp20 and Klk4 null and double-null mice

(2012) Yasuo Yamakoshi et al.   EUROPEAN JOURNAL OF ORAL SCIENCES

Parallel Mapping and Simultaneous Sequencing Reveals Deletions in BCAN and FAM83H Associated with Discrete Inherited Disorders in a Domestic Dog Breed

(2012) Oliver P. Forman et al.   PLoS Genetics

Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome

(2011) James O'Sullivan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Amelogenesis Imperfecta: Genotype-Phenotype Studies in 71 Families

(2011) J. Timothy Wright et al.   CELLS TISSUES ORGANS

Effect of Kallikrein 4 Loss on Enamel Mineralization

(2011) Charles E. Smith et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Cleavage Site Specificity of MMP-20 for Secretory-stage Ameloblastin

(2010) Y.-H.P. Chun et al.   JOURNAL OF DENTAL RESEARCH

Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta

(2009) David A. Parry et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta

(2009) Walid El-Sayed et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical and microstructural aberrations of enamel of deciduous and permanent teeth in patients with autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy

(2009) Alenka Pavlič et al.   ARCHIVES OF ORAL BIOLOGY

Hypomaturation Enamel Defects inKlk4Knockout/LacZKnockin Mice

(2009) James P. Simmer et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Fam83h is Associated with Intracellular Vesicles and ADHCAI

(2009) Y. Ding et al.   JOURNAL OF DENTAL RESEARCH

Phenotypic Variation in FAM83H-associated Amelogenesis Imperfecta

(2009) J.T. Wright et al.   JOURNAL OF DENTAL RESEARCH

FAM83H Mutations in Families with Autosomal-Dominant Hypocalcified Amelogenesis Imperfecta

(2008) Jung-Wook Kim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Functions of KLK4 and MMP-20 in dental enamel formation

(2008) Yuhe Lu et al.   BIOLOGICAL CHEMISTRY

Autosomal dominant junctional epidermolysis bullosa

(2008) N. Almaani et al.   BRITISH JOURNAL OF DERMATOLOGY