関連する実験動画

Updated: Jun 24, 2026

Dissociation of the Confounding Influences of Expectancy and Integrative Difficulty Residing in Anomalous Sentences in Event-related Potential Studies
05:22

Dissociation of the Confounding Influences of Expectancy and Integrative Difficulty Residing in Anomalous Sentences in Event-related Potential Studies

Published on: May 9, 2019

Kir2.1の変異は,アンダーセン症候群の発達およびエピソード的な電気的現象型を引き起こす

N M Plaster1, R Tawil, M Tristani-Firouzi

  • 1Department of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA.

Cell
|May 24, 2001
PubMed
まとめ

アンダーセン症候群は,周期性麻痺と心臓の問題を引き起こす疾患で,キル2.1チャンネルをコードするKCNJ2遺伝子の変異と関連しています. これらの遺伝的欠陥は,チャネル機能を妨害し,病気につながる.

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Following the Dynamics of Structural Variants in Experimentally Evolved Populations04:52

Following the Dynamics of Structural Variants in Experimentally Evolved Populations

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Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons08:04

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

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関連する概念動画

Mutations01:39

Mutations

Overview
Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).Mechanisms of Genetic VariationThe original sources of genetic variation are mutations,...
Mutations01:39

Mutations

Overview
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Entropy Changes Accompanying Specific Processes01:21

Entropy Changes Accompanying Specific Processes

Entropy, a measure of disorder in a system, changes during phase transitions like freezing or boiling. At the transition temperature Ttrs, where two phases are in equilibrium, the phase transition is a reversible process. The entropy change can be calculated from a substance's enthalpy of transition using the equation ΔStrs = ΔtrsH /Ttrs.When a perfect gas expands isothermally from one volume to another, entropy increases logarithmically with volume. Conversely, isothermal compression results...
Spontaneous and Induced Mutations01:30

Spontaneous and Induced Mutations

Spontaneous mutations arise infrequently during DNA replication due to errors in the process. A key factor behind these errors is tautomeric shifts in nitrogenous bases, where bases transition from keto to enol forms or amino to imino forms. This shift can alter base-pairing rules, leading to mutations. Additionally, reactive oxygen species (ROS) arising from aerobic metabolism can damage DNA, resulting in depurination (loss of a purine base) or depyrimidination (loss of a pyrimidine base).