関連する実験動画

Updated: Feb 24, 2026

Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes
11:33

Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes

Published on: March 12, 2013

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SeSAME症候群に関連したKCNJ10遺伝子の新規変異: 共通変異の可能性のあるまれな疾患

Shayan Shakeri1, Sanaz Mohammadi2, Forough Sadeghipour2

  • 1Department of Medical Genetics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.

Molecular genetics & genomic medicine
|February 22, 2026
PubMed
まとめ

SeSAME症候群のイラン人家族で2つの新しいKCNJ10遺伝子変異が特定され,既知の変異スペクトルを拡大し,この疾患の遺伝子型-現象型相関に関する洞察を提供しました.

キーワード:
イースト症候群 (EAST Syndrome) とはKCNJ10 KCNJ10 KCNJ10 KCNJ10 KCNJ10 についてセサミ症候群 (SeSAME syndrome) とは,セサミ症候群 (SeSAME syndrome) とは,セサミ症候群 (SeSAME syndrome) とは,セサミ症候群 (SeSAME syndrome) とは,セサミ症候群 (SeSAME syndrome) とは,セサミ症候群 (SeSAME syndrome) とは,全エクソームシーケンシング (WES)

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

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

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

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Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Mutations01:35

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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...
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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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