相关实验视频

Updated: Jun 17, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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在智力发育障碍自体主导7 (MRD7) 中发现了一种新型DYRK1A突变 (c.524del):全面的病例分析

Fiona Whitaker1, Alvaro Serrano1

  • 1East Tennessee State University, Johnson City, TN, USA.

Case reports in genetics
|August 7, 2024
PubMed
概括

双特异氨酸激酶1A (DYRK1A) 基因突变导致具有明显身体特征的智力障碍综合征. 这项研究提出了一种与这种罕见的神经发育障碍相关的新奇突变.

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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

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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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相关概念视频

Mismatch Repair01:20

Mismatch Repair

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
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Abnormal Proliferation

Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
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