Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
Amsterdam, Netherlands. In Brain, 2011
Mutations in the transfer RNA splicing endonuclease subunit genes (TSEN54, TSEN2, TSEN34) were found to be associated with pontocerebellar hypoplasia types 2 and 4. Mutations in the mitochondrial transfer RNA arginyl synthetase gene (RARS2) were associated with pontocerebellar hypoplasia type 6.
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies.
Genova, Italy. In Neurology, 2010
METHODS: We retrospectively selected a cohort of 12 children from 9 Italian families with MRI of hypoplastic pontocerebellar structures and clinical manifestations suggesting either PCH2 or PCH4 and submitted them to direct sequencing of the genes encoding the 4 subunits of the TSEN complex, namely TSEN54, TSEN34, TSEN15, and TSEN2.
N-domain angiotensin I-converting enzyme with 80 kDa as a possible genetic marker of hypertension.
São Paulo, Brazil. In Hypertension, 2003
The urine from SHR, SHR-SP, and SHRen presented 80 (S-1, SP-1, Sen-1) and 65 (S-2, SP-2, Sen-2) kDa ACE forms, differing from the urine profile of normotensive rats, but similar to that described for hypertensive patients.
Accumulation of pre-tRNA splicing '2/3' intermediates in a Saccharomyces cerevisiae mutant.
Pasadena, United States. In Embo J, 1990
Surprisingly, the splicing defect does not appreciably affect cell growth at normal or elevated temperatures, but does confer a pseudo cold-sensitive phenotype of retarded growth at 15 degrees C. The mutant falls into the complementation group SEN2 previously defined by the isolation of mutants defective for tRNA splicing in vitro [Winey, M. and Culbertson, M.R. (1988) Genetics, 118, 609-617], although its phenotypes are distinct from those of the previous sen2 isolates.