Inherited mutations in the E-cadherin gene (CDH1) were described recently in three Maori
kindreds with familial gastric cancer. Familial gastric cancer is genetically heterogeneous …

Amelogenesis imperfecta (AI) is a group of inherited defects of dental enamel formation that
shows both clinical and genetic heterogeneity. To date, mutations in the gene encoding …

Dentine dysplasia type II is an autosomal dominant disorder in which mineralization of the
dentine of the primary teeth is abnormal. On the basis of the phenotypic overlap between …

Pathologies caused by mutations in extracellular matrix proteins are generally considered to
result from the synthesis of extracellular matrices that are defective. Mutations in type X …

Multiple epiphyseal dysplasia (MED) can result from mutations in matrilin-3, a structural
protein of the cartilage extracellular matrix. We have previously shown that in a mouse …

Metaphyseal chondrodysplasia, Schmid type (MCDS) is characterized by mild short stature
and growth plate hypertrophic zone expansion, and caused by collagen X mutations. We …

Mutations in genes encoding cartilage oligomeric matrix protein and matrilin-3 cause a
spectrum of chondrodysplasias called multiple epiphyseal dysplasia (MED) and …

Disease mechanisms leading to different forms of chondrodysplasia include extracellular
matrix (ECM) alterations and intracellular stress resulting in abnormal changes to …

Mutations causing metaphyseal chondrodysplasia type Schmid (MCDS)(eg, Col10a1 p.
N617K) induce the pathology by a mechanism involving increased endoplasmic reticulum …

EDITOR—Genetic factors are clearly implicated in colorectal cancer (CRC) susceptibility,
with 10% of all cases having an aVected first degree relative and suggestions that up to 20 …