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RISS 인기검색어
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- 저자 : ( Ursula Frei ) (검색결과 2 건)
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Spectrum of Novel Hereditary Hemorrhagic Telangiectasia Variants in an Austrian Patient Cohort
Martin Koenighofer,Thomas Parzefall,Alexandra Frohne,Matthew Allen,Ursula Unterberger,Franco Laccone,Christian Schoefer,Klemens Frei,Trevor Lucas 대한이비인후과학회 2019 Clinical and Experimental Otorhinolaryngology Vol.12 No.4
Objectives. Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant genetic disorder characterized by pathogenic blood vessel development and maintenance. HHT type 1 (HHT1) and type 2 (HHT2) are caused by variants in endoglin (ENG) and activin receptor-like kinase-1 (ACVRL1), respectively. The aim of this study was to identify the spectrum of pathogenic variants in ENG and ACVRL1 in Austrian HHT families. Methods. In this prospective study, eight Austrian HHT families were screened for variants in ENG and ACVRL1 by polymerase chain reaction amplification and sequencing of DNA isolated from peripheral blood. Results. Heterozygous variants were identified in all families under study. HHT1 was caused by a novel c.816+1G>A splice donor variant, a novel c.1479C>A nonsense (p.Cys493X) variant and a published c.1306C>T nonsense (p.Gln436X) variant in ENG. Variants found in ACVRL1 were novel c.200G>C (p.Arg67Pro) and known c.772G>A (p.Gly258Ser) missense variants in highly conserved residues, a known heterozygous c.100dupT frameshift (p.Cys34Leufs*4) and the known c.1204G>A missense (p.Gly402Ser) and c.1435C>T nonsense (p.Arg479X) variants as causes of HHT2. Conclusion. Novel and published variants in ENG (37.5%) and ACVRL1 (62.5%) were exclusively identified as the cause of HHT in an Austrian patient cohort. Identification of novel causative genetics variants should facilitate the development of tailored therapeutical applications in the future treatment of autosomal dominant HHT.
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RESEARCH ARTICLES : Mapping a New Source of Self-fertility in Perennial Ryegrass (Lolium perenne L.)
( Andrea Arias Aguirre ),( Bruno Studer ),( Javier Do Canto ),( Ursula Frei ),( Thomas Lubberstedt ) 한국육종학회 2013 Plant Breeding and Biotechnology Vol.1 No.4
There is a rising interest of moving towards hybrid breeding in out crossing species. Self-compatibility (SC), which occurs at low rates in self-incompatible species, could be used to develop inbred lines, a key requirement for hybrid breeding programs. In perennial ryegrass, the existence of SC independent from the self-incompatibility (SI) loci S and Z has been reported. In this study, we used 98 F2 individuals from a cross between a self-compatible ecotype and an individual of the VrnA mapping population that were tested with markers for two candidate linkage groups 3 and 5 as well as markers for candidate regions at the S and Z locus. We were able to determine a tentative location of a SC locus and tested the possible interaction to other loci involved in SI and SC. This information will help to fine map the SC locus, and for marker-assisted selection.
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