| mutations in pcdh21 cause autosomal recessive cone-rod dystrophy. | cone-rod dystrophy is a retinal dystrophy with early loss of cone photoreceptors and a parallel or subsequent loss of rod photoreceptors. it may be syndromic, but most forms are non-syndromic with autosomal dominant, autosomal recessive or x-linked recessive inheritance. | 2010 | 20805371 |
| autosomal-recessive posterior microphthalmos is caused by mutations in prss56, a gene encoding a trypsin-like serine protease. | posterior microphthalmos (mcop) is a rare isolated developmental anomaly of the eye characterized by extreme hyperopia due to short axial length. the population of the faroe islands shows a high prevalence of an autosomal-recessive form (armcop) of the disease. based on published linkage data, we refined the position of the disease locus (mcop6) in an interval of 250 kb in chromosome 2q37.1 in two large faroese families. we detected three different mutations in prss56. patients of the faroese fa ... | 2011 | 21397065 |
| direct assessment of cumulative aryl hydrocarbon receptor agonist activity in sera from experimentally exposed mice and environmentally exposed humans. | aryl hydrocarbon receptor (ahr) ligands adversely affect many biological processes. however, assessment of the significance of human exposures is hampered by an incomplete understanding of how complex mixtures affect ahr activation/inactivation. | 2010 | 20435556 |
| null mutations in the n-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia. | n-acetylglutamate synthase (nags) is a mitochondrial enzyme that catalyzes the formation of n-acetylglutamate, an essential allosteric activator of carbamyl phosphate synthetase i, the first enzyme of the urea cycle. liver nags deficiency has previously been found in a small number of patients with hyperammonemia. the mouse and human nags genes have recently been cloned and expressed in our laboratory. we searched for mutations in the nags gene of two families with presumed nags deficiency. the ... | 2003 | 12594532 |