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相关概念视频

Lysosomal Hydrolases01:22

Lysosomal Hydrolases

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Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
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Disorders of Leukocytes01:27

Disorders of Leukocytes

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Leukocyte disorders can lead to either leukopenia, characterized by an abnormally low leukocyte count, or leukocytosis, marked by a very high leukocyte number.
Leukopenia may result from bone marrow disorders, autoimmune diseases, and infectious diseases. For example, conditions such as multiple myeloma and aplastic anemia can impair the bone marrow's ability to produce adequate leukocytes. Similarly, autoimmune diseases like lupus and viral infections such as HIV can prompt the immune...
987
Sex-linked Disorders01:43

Sex-linked Disorders

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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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Neural Regulation01:37

Neural Regulation

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Digestion begins with a cephalic phase that prepares the digestive system to receive food. When our brain processes visual or olfactory information about food, it triggers impulses in the cranial nerves innervating the salivary glands and stomach to prepare for food.
39.6K
Lethal Alleles02:41

Lethal Alleles

15.6K
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...
15.6K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

206
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
206

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相关实验视频

Updated: Jul 26, 2025

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
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An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

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拉布鲁恩综合征:一种罕见的白血病.

Jishnu Nair1, Sai Sriram Swamiyappan2, Rav Tej Bathala1

  • 1Neurosurgery, Sri Ramachandra Institute of Higher Education and Research, Chennai, IND.

Cureus
|June 22, 2023
PubMed
概括

拉布鲁恩综合征是一种罕见的神经系统疾病,涉及渐进性脑退化. 这种病例突出了一个患有发作,基底腺结和白质变化的患者,原因是SNORD118基因突变.

科学领域:

  • 神经学 神经学
  • 遗传学 遗传学 是一个
  • 放射学 放射学是一门学科.

背景情况:

  • 拉布伦综合征是一种罕见的,进展性神经系统疾病.
  • 它的特征是大脑退化,经常出现发作.
关键词:
大脑化的情况.囊 (cysts) 是一种囊.拉布伦综合症是什么意思患有白血病的病例包括白血病.斯诺德118 基因突变 基因突变

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