Search Results - "Chuva de Sousa Lopes, Susana Marina"
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Trisomy 21 Alters DNA Methylation in Parent-of-Origin-Dependent and -Independent Manners
Published in PloS one (21-04-2016)“…The supernumerary chromosome 21 in Down syndrome differentially affects the methylation statuses at CpG dinucleotide sites and creates genome-wide…”
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5meCpG epigenetic marks neighboring a primate-conserved core promoter short tandem repeat indicate X-chromosome inactivation
Published in PloS one (31-07-2014)“…X-chromosome inactivation (XCI) is the epigenetic transcriptional silencing of an X-chromosome during the early stages of embryonic development in female…”
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Retained chromosomal integrity following CRISPR-Cas9-based mutational correction in human embryos
Published in Molecular therapy (02-08-2023)“…Human germline gene correction by targeted nucleases holds great promise for reducing mutation transmission. However, recent studies have reported concerning…”
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5.sup.meCpG Epigenetic Marks Neighboring a Primate-Conserved Core Promoter Short Tandem Repeat Indicate X-Chromosome Inactivation
Published in PloS one (31-07-2014)“…X-chromosome inactivation (XCI) is the epigenetic transcriptional silencing of an X-chromosome during the early stages of embryonic development in female…”
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Correcting a PLCζ Mutation in the Human Germ Line to Overcome Hereditary Infertility
Published in Fertility & reproduction (01-09-2022)“…Human germline gene correction by CRISPR/Cas9 holds great promise to eliminate transmission of genetic mutations. Recent studies have however made troublesome…”
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Correcting a PLC Mutation in the Human Germ Line to Overcome Hereditary Infertility
Published in Fertility & reproduction (01-09-2022)“…Human germline gene correction by CRISPR/Cas9 holds great promise to eliminate transmission of genetic mutations. Recent studies have however made troublesome…”
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Journal Article