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相关概念视频

ABC Transporters: Exporter01:31

ABC Transporters: Exporter

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ATP-binding cassette or ABC transporter is the largest superfamily of integral membrane proteins. The transporters have transmembrane-binding domains (TMDs) and nucleotide-binding domains (NBDs). The TMDs are specific to their substrates, whereas the NBDs are similar to engines that complete ATP hydrolysis to complete the substrate transport. They can be full transporters consisting of two TMDs and NBDs, half transporters with one TMD and NBD, while some encoded with a single TMD or NBD are...
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Pedigree Analysis01:35

Pedigree Analysis

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Genetic Lingo01:11

Genetic Lingo

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ABC Transporters: Importer01:27

ABC Transporters: Importer

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ATP-binding cassette or ABC transporters are a class of ATP-driven pumps that hydrolyze ATP to move solutes across the membrane. They can be grouped into importers and exporters. While exporters are present in all domains of life, importers exist only in bacteria and some plants.
In bacteria, based on the number of transmembrane helices and the chemical nature of their substrates, the ABC importers can be divided into three types:
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Probability Laws01:49

Probability Laws

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Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
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相关实验视频

Updated: Jul 19, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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可变的ABCB4疾病的家族内表达.

Lucia Zampaglione1,2, Anne-Laure Rougemont3,4, Laura Rubbia-Brandt3

  • 1Division of Internal Medicine, Hôpital du Valais, Sion, Switzerland.

ACG case reports journal
|August 14, 2023
PubMed
概括

与活体相关的肝脏捐赠对于进展性家族性肝脏内胆固醇症3型 (PFIC3) 是可行的. 一位患有相同ABCB4突变的父亲成功地向他的儿子捐赠了先进的PFIC3.

科学领域:

  • 肝病学 肝病学是一种肝病学.
  • 遗传学 遗传学 是一个
  • 移植 移植 移植 移植

背景情况:

  • 渐进性家族性肝内胆固醇症3型 (PFIC3) 是一种罕见的遗传性肝病.
  • 它是由ABCB4基因的突变引起的,导致胆固醇症.
  • PFIC3表现出可变的临床表现和不完全的透性,使治疗策略复杂化.
关键词:
在ABCB4中,ABCB4是ABCB4的位置.胆固醇的发生.基因型 基因型 基因型穿透 穿透 穿透 穿透 穿透现象型 现象型 是一种现象型.移植 移植 移植 移植

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