関連する実験動画

Updated: Sep 9, 2025

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
08:04

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

Published on: June 6, 2025

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X関連シャルコ・マリー・トゥース病タイプ1の家族:GJB1および文献の見直しにおける不確実な重要性の変異を再分類するためのケース

Christina Chrisman1, Ritwik Keshav1, Christopher J Record2

  • 1University of Arizona College of Medicine - Phoenix, Banner Neuroscience Institute, Phoenix, AZ.

Journal of clinical neuromuscular disease
|September 3, 2025
PubMed
まとめ

ギャップジャンクションベータ-1 (GJB1) Ser281Pro変異体は,X関連シャルコ・マリー・トゥース病タイプ1 (CMTX1) の病原性である. この発見は CMTX1の診断と理解を助け,以前は不明だった変異を明らかにした.

キーワード:
シャルコ・マリー・トゥース病遺伝学神経障害

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

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Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

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X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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