Congenital hydrocephalus is a common birth-defect whose developmental origins are poorly understood. Pax3-null mutants show defects in myogenesis, neural tube closure, neural crest morphogenesis, and heart development that, consequently, results in embryonic lethality. Here we demonstrate that conditional deletion of the mouse Pax3 transcription factor results in fully-penetrant congenital obst...

BACKGROUND Germ-line truncating mutations in the E-cadherin (CDH1) gene have been found in families with hereditary diffuse gastric cancer. These families are characterized by a highly penetrant susceptibility to diffuse gastric cancer with an autosomal dominant pattern of inheritance, predominantly in young persons. We describe genetic screening, surgical management, and pathological findings ...

Manufacturing defects and discontinuities in a product are anomalies which can lead to severe damages may sometimes involve loss of life. These must be examined corrected before the goes into service. There two methods testing for viz. Destructive Testing Non-Destructive Testing. entails subjecting conditions that leads failure whereas (NDT) is process examining products way it retains its usef...

BACKGROUND Huntington's disease (HD) is an autosomal dominant neurodegenerative late onset disorder. This review of reproductive options aims to increase reproductive confidence and to prevent suffering in relation to family planning around HD and possibly other late onset neurodegenerative disorders. METHODS Selected relevant literature and own views and experiences as clinical geneticists, ps...

24 Background: The neuronal ceroid lipofuscinoses (NCLs, or Batten disease) comprise the 25 most common Mendelian form of childhood-onset neurodegeneration, but the functions 26 of the known underlying gene products remain poorly understood. The clinical 27 heterogeneity of these disorders may shed light on genetic interactors that modify disease 28 onset and progression. 29 Case presentation: ...

Molecular diffusion of polymer chains and low molecular weight constituents and impurities can be an important process in the formation and application of polymer composites. Molecular diffusion in polymer systems is a complex process which can be a strong function of temperature, concentration, polymer molecular weight and polymer morphology. During the last decade, significant advances have b...

INTRODUCTION Lymphoedema-distichiasis syndrome (LD) (OMIM 153400) is a rare, primary lymphoedema of pubertal onset, associated with distichiasis. Causative mutations have now been described in FOXC2, a forkhead transcription factor gene. Numerous clinical associations have been reported with this condition, including congenital heart disease, ptosis, varicose veins, cleft palate, and spinal ext...

The heterozygous Pro250Arg substitution mutation in fibroblast growth factor receptor 3 (FGFR3), which increases ligand-dependent signalling, is the most common genetic cause of craniosynostosis in humans and defines Muenke syndrome. Since FGF signalling plays dosage-sensitive roles in the differentiation of the auditory sensory epithelium, we evaluated hearing in a large group of Muenke syndro...

1. P(i) competitively inhibited succinate oxidation by intact uncoupled mitochondria in the presence of sufficient N-ethylmaleimide to block the phosphate carrier, with a K(i) of 2.5mm. 2. Of a large number of phosphate esters and phosphonate compounds, phenyl phosphate and phenylphosphonate were found to inhibit competitively uncoupled succinate oxidation by intact but not broken mitochondria....