Cadmium is a ubiquitous environmental contaminant and a potent teratogen in mice. For many experiments, hybrid mice obtained by crossing two inbred strains are preferable to either of the contributory pure lines because of theirs so called "hybrid vigor". The objective of this study was to compare the teratogenicity impact of cadmium in the NMRI and the hybrid mouse strain. A single dose of cad...

The epimerization of glucuronic acid into iduronic acid adds structural variability to chondroitin/dermatan sulfate polysaccharides. Iduronic acid-containing domains play essential roles in processes such as coagulation, chemokine and morphogen modulation, collagen maturation, and neurite sprouting. Therefore, we generated and characterized, for the first time, mice deficient in dermatan sulfat...

BACKGROUND Inorganic arsenic has been used by many laboratories to study the pathogenesis of exencephaly in rodents. These studies, which used predominantly injection exposures, coupled with the paucity of epidemiology data, resulted in the erroneous inference that inorganic arsenic should be considered a human teratogen. METHODS This study assembles and assesses literature analyses of older ...

Members of the Eph receptor tyrosine kinase have previously been implicated in cranial neural tube development. Failure of neural tube closure leads to the devastating conditions known as anencephaly and spina bifida. EphA2 and EphA4 are expressed at the tips of the closing spinal neural folds prior and during neural tube closure. We investigated the possible role of murine EphA2 and EphA4 duri...

There are numerous genes for which loss-of-function mutations do not produce apparent phenotypes even though statistically significant quantitative changes to biological pathways are observed. To evaluate the biological meaning of small effects is challenging. Bardet-Biedl syndrome (BBS) is a heterogeneous autosomal recessive disorder characterized by obesity, retinopathy, polydactyly, renal ma...

hemizygous male mutants die by E12 and display neural tube defects, exencephaly and left–right asymmetry. Analysis of heterozygous female mutants revealed a severe brain phenotype including expansion of the ventral telencephalon in the dorsal part of the brain, reduction of the cortex and defects in the formation of dorsomedial telencephalic structures from E12.5. Morphological staining of muta...

BACKGROUND Dermatan sulfate (DS) is a highly sulfated polysaccharide with a variety of biological functions in extracellular matrix organization and processes such as tumorigenesis and wound healing. A distinct feature of DS is the presence of iduronic acid, produced by the two enzymes, DS-epimerase 1 and 2, which are encoded by Dse and Dsel, respectively. METHODS We have previously shown tha...

Inositol 1,3,4-trisphosphate 5/6-kinase (ITPK1) is a key regulatory enzyme at the branch point for the synthesis of inositol hexakisphosphate (IP(6)), an intracellular signaling molecule implicated in the regulation of ion channels, endocytosis, exocytosis, transcription, DNA repair, and RNA export from the nucleus. IP(6) also has been shown to be an integral structural component of several pro...

as axon guidance cues. Both plexin B1 and plexin B2 are expressed during mouse kidney development. Inbred plexin B2 knockout (PB2 KO) mice die prenatally with defects in olfactory bulb development, neuronal proliferation and neural tube closure (exencephaly). We report here that these PB2 KO mice have defects also in kidney morphogenesis. In PB2 / embryos the kidneys are smaller and the number ...

Congenital anomalies affecting the ureter-bladder junction are frequent in newborns and are often associated with other developmental defects. However, the molecular and morphological processes underlying these malformations are still poorly defined. In this study, we identified the leukocyte antigen-related (LAR) family protein tyrosine phosphatase, receptor type, S and F (Ptprs and Ptprf [als...