相关实验视频

Updated: Jun 28, 2025

Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy
10:30

Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy

Published on: May 24, 2016

18.7K

一个由新型ABCD1突变引起的X链 adrenoleukodystrophy 的男孩中部早发性青春期

Chaoyue Zhao1,2, Hanhong Zhu3, Jie Wang1

  • 1Department of Pediatrics, Linyi People's Hospital, Postgrad Training Base Jinzhou Medical University, Linyi, Shandong Province, 276000, China.

Heliyon
|April 10, 2024
PubMed
概括

这项研究确定了一名患有X链接上腺缩症 (X-ALD) 的男孩的新型ABCD1基因突变,该男孩呈现出初级上腺功能不足和中央早熟性青春期. 这些发现扩大了对X-ALDD的理解.

关键词:
在ABCD1中,ABCD1是ABCD1.中部早熟青春期 中部早熟青春期与X结合的 adrenoleukodystrophy与X结合的 adrenoleukodystrophy是指X结合的 adrenoleukodystrophy与X结合的 adrenoleukodystrophy是指X结合的 adrenoleukodystrophy与X结合的 adrenoleukodystrophy是指X结合的 adrenoleukodystrophy与X结合的 adrenoleukodystrophy是指X结合的 adrenoleukodystrophy与X结合的 adrenoleukodystrophy是指X结合的 adrenoleukodystrophy与X结合的 adrenoleukodystrophy.

更多相关视频

Exon Skipping in Directly Reprogrammed Myotubes Obtained from Human Urine-Derived Cells06:20

Exon Skipping in Directly Reprogrammed Myotubes Obtained from Human Urine-Derived Cells

Published on: May 7, 2020

7.1K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.6K

相关概念视频

Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
102.1K
X-linked Traits01:19

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”.
54.9K
Pedigree Analysis01:35

Pedigree Analysis

Overview
84.2K
The Y Chromosome Determines Maleness02:19

The Y Chromosome Determines Maleness

The Y chromosome is a sex chromosome found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human males have one X chromosome and one Y chromosome. In these organisms, the presence or absence of the Y chromosome determines the development of male traits.
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size....
6.6K
Smooth Endoplasmic Reticulum01:21

Smooth Endoplasmic Reticulum

Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
5.7K
Exon Recombination02:32

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon...
3.6K