The etiology of autism is complex, and in most cases the underlying pathologic mechanisms
are unknown. Autism is a hetereogeneous disorder, diagnosed subjectively on the basis of a …

Abstract Cyclic GMP-AMP (cGAMP) synthase (cGAS) is recently identified as a cytosolic
DNA sensor and generates a non-canonical cGAMP that contains G (2′, 5′) pA and A …

Trinucleotide, or triplet, repeats consist of 3 nucleotides consecutively repeated (eg, CCG
CCG CCG CCG CCG) within a region of DNA, a not uncommon motif in the genome of …

We have identified a new member of the TGF-β superfamily, CET-1, from Caenorhabditis
elegans, which is expressed in the ventral nerve cord and other neurons. cet-1 null mutants …

We identified four different missense mutations in the single-exon gene MAB21L2 in eight
individuals with bilateral eye malformations from five unrelated families via three …

Hereditary non-polyposis colorectal carcinoma (Lynch syndrome) is among the most
common hereditary cancers in man and a model of cancers arising through deficient DNA …

The mab-21 gene was first identified because of its requirement for ray identity specification
in Caenorhabditis elegans. It is now known to constitute a family of genes that are highly …

Twelve diseases, most with neuropsychiatric features, arise from trinucleotide repeat
expansion mutations. Expansion mutations may also cause a number of other disorders …

Two vascular networks nourish the embryonic eye as it develops–the hyaloid vasculature,
located at the anterior of the eye between the retina and lens, and the choroidal vasculature …

Recent studies have suggested that expanded CAG/CTG repeats contribute to the genetic
aetiology of schizophrenia and bipolar disorder. However, the nature of this contribution is …