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相关概念视频

Sex-linked Disorders01:43

Sex-linked Disorders

102.3K
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.
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X-linked Traits01:19

X-linked Traits

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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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Alzheimer's Disease: Overview01:26

Alzheimer's Disease: Overview

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Alzheimer's Disease (AD) is a continually advancing neurodegenerative disorder, distinguished by escalating memory loss, cognitive dysfunction, and dementia. The disease unfolds in three stages: preclinical, mild cognitive impairment (MCI), and dementia. Its onset is insidious, and the progression gradual, with the cause not well explained by other disorders.
The clinical diagnosis of AD hinges on the presence of memory and other cognitive impairments. Biomarkers, such as changes in Aβ...
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Pedigree Analysis01:35

Pedigree Analysis

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Overview
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Lethal Alleles02:41

Lethal Alleles

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Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
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Genetic Lingo01:11

Genetic Lingo

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Overview
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相关实验视频

Updated: Jul 12, 2025

Isolation and Cannulation of Cerebral Parenchymal Arterioles
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Isolation and Cannulation of Cerebral Parenchymal Arterioles

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与X结合的大脑 adrenoleukodystrophy是指与X结合的大脑 adrenoleukodystrophy是指与X结合的大脑 adrenoleukodystrophy是指与X结合的大脑

Cara Louise Weldrick1, Peter Boers2, Patrick Kiely3

  • 1Neurology, University Hospital Limerick, Limerick, Ireland caraweldrick@yahoo.co.uk.

BMJ case reports
|October 31, 2023
PubMed
概括

这项案例研究突出了X相关的上腺核衰竭 (X-ALD),呈现为瘤性多发性硬化症. 通过基因检测进行早期诊断对于管理这种罕见的代谢障碍至关重要.

科学领域:

  • 神经学 神经学
  • 遗传学 是一个遗传学.
  • 代谢障碍 代谢障碍 代谢障碍

背景情况:

  • 与X相关的上腺核衰竭 (X-ALD) 是一种罕见的遗传代谢疾病,影响上腺,大脑和脊髓.
  • 它是由ABCD1基因的突变引起的,导致非常长链脂肪酸 (VLCFA) 的积累.
  • X-ALD可以呈现出各种神经系统症状,经常模仿其他疾病,如多发性硬化症.
关键词:
神经遗传学 神经遗传学神经内分泌学神经内分泌学神经成像是一种神经成像.神经学 神经学

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