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相关概念视频

Gene Therapy00:59

Gene Therapy

Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...
Gene Therapy00:59

Gene Therapy

Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...
Tumor Progression02:07

Tumor Progression

Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Pulmonary Hypertension: Classification and Pathogenesis01:30

Pulmonary Hypertension: Classification and Pathogenesis

Pulmonary hypertension (PH) is a severe health condition in which the mean pulmonary arterial pressure increases to 25 mmHg or more, even when the body is at rest. This high pressure in the blood vessels that transport blood from the heart to the lungs can cause various symptoms, including shortness of breath, can lead to right heart failure, and significantly affect the overall quality of life.
There are various classifications for PH, each relating to different underlying causes and also...
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...

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相关实验视频

Updated: Jul 14, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

在遗传性聋症方面取得了进展.

M Tekin1, K S Arnos, A Pandya

  • 1Department of Human Genetics, Medical College of Virginia, Virginia Commonwealth University, Richmond, VA, USA.

Lancet (London, England)
|October 9, 2001
PubMed
概括

遗传研究已经确定了70多个非综合征性聋的基因,其中连接素26 (CX26GJB2) 突变导致了大多数衰退病例. 这份摘要有助于诊断听力损失患者.

科学领域:

  • 遗传学 是一个遗传学.
  • 耳鼻喉科 耳鼻喉科 耳鼻喉科
  • 人类基因组研究 人类基因组研究

背景情况:

  • 人类基因组项目和遗传研究的重大进展加速了与聋相关的基因的识别.
  • 专门的耳cDNA库和小鼠模型的开发对于发现与聋相关的遗传位置至关重要.
  • 已经绘制了非综合征性聋基因的70多个染色体位置,识别和表征了20多个基因.

研究的目的:

  • 总结一下最近在识别导致各种形式聋的基因方面取得的进展.
  • 提供听力损失遗传景观的最新概述.
  • 为诊断听力障碍患者提供临床指南.

主要方法:

  • 关于人类基因组研究和聋人遗传学的科学文献的综述.
  • 分析了来自状特定cDNA库和聋的小鼠模型的数据.
  • 关于映射基因位点和识别的聋基因的信息汇编.

主要成果:

  • 鉴定了大约70个非综合征性聋的基因位点.
  • 20多个与听力损失相关的特定基因的表征.
  • 已确定Connexin 26 (CX26GJB2) 突变是衰退性非综合征性聋的主要原因,在某些人群中影响着30%-40%的儿童遗传性聋.

更多相关视频

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

Comparison of Two Representative Methods for Differentiation of Human Induced Pluripotent Stem Cells into Mesenchymal Stromal Cells
06:24

Comparison of Two Representative Methods for Differentiation of Human Induced Pluripotent Stem Cells into Mesenchymal Stromal Cells

Published on: October 20, 2023

相关实验视频

Last Updated: Jul 14, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

Comparison of Two Representative Methods for Differentiation of Human Induced Pluripotent Stem Cells into Mesenchymal Stromal Cells
06:24

Comparison of Two Representative Methods for Differentiation of Human Induced Pluripotent Stem Cells into Mesenchymal Stromal Cells

Published on: October 20, 2023

结论:

  • 遗传因素在非综合征性聋症中起着重要作用.
  • 连素26 (CX26GJB2) 是儿童衰退性聋病的病因中的一个关键基因.
  • 遗传研究的进步有助于改善临床诊断和对听力损失的理解.