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Full-Text Articles in Genetic Processes
Heterogeneity Of Disease-Causing Variants In The Swedish Galactosemia Population: Identification Of 16 Novel Galt Variants, Annika Ohlsson, Mary Hunt, Anna Wedell, Ulrika Von Döbeln
Heterogeneity Of Disease-Causing Variants In The Swedish Galactosemia Population: Identification Of 16 Novel Galt Variants, Annika Ohlsson, Mary Hunt, Anna Wedell, Ulrika Von Döbeln
Articles
The aim was to determine disease-causing variants in the GALT gene which codes for the enzyme galactose-1-phosphate uridylyltransferase. Loss of activity of this enzyme causes classical galactosemia-a life threatening, treatable disorder, included in the Swedish newborn screening program since 1967. A total of 66 patients with the disease are known in Sweden and 56 index patients were investigated. An additional two patients with Duarte galactosemia were included. The disease-causing variants were identified in all patients. As reported from other countries only a few variants frequently recur in severe disease. The two variants p.(Gln188Arg) (c.563A>G) and p.(Met142Lys) (c.425T>A) are …
Adenovirus E4orf4 Induces Hpv-16 Late L1 Mrna Production, Monica Somberg, Margaret Rush, Joanna Fay, Fergus Ryan, Helen Lambkin, Göran Akusjärvi, Stefan Schwartz
Adenovirus E4orf4 Induces Hpv-16 Late L1 Mrna Production, Monica Somberg, Margaret Rush, Joanna Fay, Fergus Ryan, Helen Lambkin, Göran Akusjärvi, Stefan Schwartz
Articles
The adenovirus E4orf4 protein regulates the switch from early to late gene expression during the adenoviral replication cycle. Here we report that overexpression of adenovirus E4orf4 induces human papillomavirus type 16 (HPV-16) late gene expression from subgenomic expression plasmids. E4orf4 specifically overcomes the negative effects of two splicing silencers at the two late HPV-16 splice sites SD3632 and SA5639. This results in the production of HPV-16 spliced L1 mRNAs. We show that the interaction of E4orf4 with protein phosphatase 2A (PP2A) is necessary for induction of HPV-16 late gene expression. Also an E4orf4 mutant that fails to bind the cellular …
Chromosomal Microdeletions And Genes' Functions: A Cluster Of Chromosomal Microdeletions And The Deleted Genes' Functions, David Tilstra Md, Kevin Martens, Inge Heulens, Sandra Meulemans
Chromosomal Microdeletions And Genes' Functions: A Cluster Of Chromosomal Microdeletions And The Deleted Genes' Functions, David Tilstra Md, Kevin Martens, Inge Heulens, Sandra Meulemans
Articles
Hypotonia-cystinuria syndrome (HCS) is a recessive disorder caused by microdeletions of SLC3A1 and PREPL on chromosome 2p21. Patients present with generalized hypotonia at birth, failure to thrive, growth retardation and cystinuria type I. While the initially described HCS families live in small regions in Belgium and France, we have now identified HCS alleles in patients and carriers from the Netherlands, Italy, Canada and United States of America. Surprisingly, among the nine deletions detected in those patients, only one novel deletion was found. Furthermore, one previously described deletion was found six times, another twice. Finally, we have investigated the frequency of …