This review encompasses the most important advances in liver functions and hepatotoxicity
and analyzes which mechanisms can be studied in vitro. In a complex architecture of nested …

The relatively large brain and expanded cerebral cortex of humans is unusual in the animal
kingdom and is thought to have promoted our adaptability and success as a species. One …

Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder. It is
characterized by two principal features, microcephaly present at birth and nonprogressive …

The complete inability to sense pain in an otherwise healthy individual is a very rare
phenotype. In three consanguineous families from northern Pakistan, we mapped the …

Background Duplications and deletions in the human genome can cause disease or
predispose persons to disease. Advances in technologies to detect these changes allow for …

EEC syndrome is an autosomal dominant disorder characterized by ectrodactyly,
ectodermal dysplasia, and facial clefts. We have mapped the genetic defect in several EEC …

The tumour suppressor gene PTEN, which maps to 10q23. 3 and encodes a 403 amino acid
dual specificity phosphatase (protein tyrosine phosphatase; PTPase), was shown recently to …

Aicardi-Goutières syndrome (AGS) is an autosomal recessive neurological disorder, the
clinical and immunological features of which parallel those of congenital viral infection. Here …

One of the most notable trends in mammalian evolution is the massive increase in size of the
cerebral cortex, especially in primates. Humans with autosomal recessive primary …

Autosomal recessive primary microcephaly is a potential model in which to research genes
involved in human brain growth. We show that two forms of the disorder result from …