Chromatin modifier genes are responsible for the variability of clinical Di Georgovog / VCF syndrome | Croatian Society of Human Genetics
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Di George syndrome / Velo-cardio-facial syndrome is a relatively common chromosomal disorder which in most cases is caused by a deletion of 22q11. The prevalence of this syndrome mikrodelecijskog is about 1:4000 in the general home office furniture population. The syndrome home office furniture is characterized by a large variability in the clinical picture which includes home office furniture the presence of errors heart, cleft palate, specific home office furniture facial dizmorfije, hearing impairment and a high risk of developing psychiatric disorders, primarily schizophrenia in adulthood. A group of researchers led by dr.Anne Voss investigated the influence of chromatin modifier genes, primarily genes MOZ. This gene expression changes TBX1 gene that is involved in the development of aortic home office furniture and srca.Gen TBX1 is located close to the 22q11 region and its deletion causes a phenotype in heterozygous Di Georgovog syndrome home office furniture without change in the 22q11 region. The research on mouse models dr.Voss home office furniture and colleagues also studied the role of MOZ gene in the development of the heart, throat and craniofacial structure and its effect on the metabolism of retinoic acid. More information on the original work of Genetic modifications of chromatin contribute to the variability of 22q11 deletions-VCF-Di Georgovog syndrome
2010th Croatian Society of Human Genetics
Notifications Articles DNA - Day Meetings Meetings Institutions Education Students Graduate Studies Courses Links About HDHG in administrative bodies of the Commission home office furniture Rules Documents home office furniture Membership Diagnostics Links Contact
Di George syndrome / Velo-cardio-facial syndrome is a relatively common chromosomal disorder which in most cases is caused by a deletion of 22q11. The prevalence of this syndrome mikrodelecijskog is about 1:4000 in the general home office furniture population. The syndrome home office furniture is characterized by a large variability in the clinical picture which includes home office furniture the presence of errors heart, cleft palate, specific home office furniture facial dizmorfije, hearing impairment and a high risk of developing psychiatric disorders, primarily schizophrenia in adulthood. A group of researchers led by dr.Anne Voss investigated the influence of chromatin modifier genes, primarily genes MOZ. This gene expression changes TBX1 gene that is involved in the development of aortic home office furniture and srca.Gen TBX1 is located close to the 22q11 region and its deletion causes a phenotype in heterozygous Di Georgovog syndrome home office furniture without change in the 22q11 region. The research on mouse models dr.Voss home office furniture and colleagues also studied the role of MOZ gene in the development of the heart, throat and craniofacial structure and its effect on the metabolism of retinoic acid. More information on the original work of Genetic modifications of chromatin contribute to the variability of 22q11 deletions-VCF-Di Georgovog syndrome
2010th Croatian Society of Human Genetics
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