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Updated: Jun 15, 2025

Author Spotlight: A Battery of Highly Reproducible Behavioral Tests to Validate an Angelman Syndrome Murine Model
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在安吉尔曼综合征的精准医学

Lena Manssen1, Ilona Krey2, Janina Gburek-Augustat3

  • 1Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig Maximilian University Munich, Munich, Germany.

Neuropediatrics
|August 21, 2024
PubMed
概括

安吉尔曼综合征 (AS) 是一种罕见的神经遗传性疾病. 目前的治疗方法侧重于控制症状,而新的治疗方法旨在改变mRNA的表达,目前对这种疾病进行了几项临床试验.

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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

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Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
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