A5102729946- Chromosomal and Genetic Variations
- Animal Genetics and Reproduction
- RNA and protein synthesis mechanisms
- Reproductive Biology and Fertility
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Prenatal Screening and Diagnostics
- Genetically Modified Organisms Research
- Plant Genetic and Mutation Studies
- Carcinogens and Genotoxicity Assessment
- Plant Disease Resistance and Genetics
- Genetic diversity and population structure
- Plant Taxonomy and Phylogenetics
- CRISPR and Genetic Engineering
- Genomics and Chromatin Dynamics
- Plant Virus Research Studies
- DNA Repair Mechanisms
- DNA and Nucleic Acid Chemistry
- Genomics and Phylogenetic Studies
Instituto de Investigaciones Biológicas Clemente Estable
1993-2025
Centro Uruguayo de Imagenología Molecular
2005
Essen University Hospital
1993
Infertility affects a considerable number of couples at reproductive age, with an incidence 10-15%. Approximately 25% cases are classified as idiopathic infertility. Often, errors during the meiotic stage appear to be related A crucial component first prophase is synaptonemal complex (SC), which plays fundamental role in homologous chromosome pairing and recombination. In many studies infertile patients, mutations affecting SC-coding genes have been identified. The generation humanized...
More than 50% of cases primary ovarian insufficiency (POI) and nonobstructive azoospermia in humans are classified as idiopathic infertility. Meiotic defects may relate to at least some these cases. Mutations genes coding for synaptonemal complex (SC) components have been identified humans, hypothesized be causative the observed infertile phenotype. Mutation SYCE1 c.721C>T (former c.613C>T)-a familial mutation reported two sisters with amenorrhea-was first such found an SC central element...
Chromosome breakpoints induced by neutrons or gamma rays in Chinese hamster ovary cells were mapped to Giemsa-light Giemsa-dark bands band junctions. Radiation-induced found be distributed nonrandomly according chromosome length. More than 60% of the localized G-light bands. A group 13 which corresponded only 7% total length contained 22% produced and 14% those rays. Seven these are also preferentially damaged AluI, BamHI DNase I as reported previously. The results indicate that chromatin...
Abstract Objective To investigate if nonsense mutation SYCE1 c.613C˃T - found in women with familial primary ovarian insufficiency (POI)- is actually responsible for infertility, and to elucidate the involved molecular mechanisms. Design As most fundamental mammalian oogenesis events occur during embryonic phase, thus hindering study of POI’s etiology/pathogeny infertile women, we have used CRISPR/Cas9 technology generate a mouse model line an equivalent genome alteration (humanized mice)....