Jove
Visualize
联系我们

相关概念视频

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

18.4K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
18.4K
Factors Affecting Dissolution: Polymorphism, Amorphism and Pseudopolymorphism01:21

Factors Affecting Dissolution: Polymorphism, Amorphism and Pseudopolymorphism

734
Polymorphism refers to the existence of a drug substance in multiple crystalline forms, known as polymorphs. Recently, this term has been expanded to include solvates (forms containing a solvent), amorphous forms (non-crystalline forms), and desolvated solvates (forms from which the solvent has been removed).
Some polymorphic crystals possess lower aqueous solubility than their amorphous counterparts, leading to incomplete absorption. For instance, the oral suspension of Chloramphenicol, which...
734
Nephrotic Syndrome I : Introduction01:24

Nephrotic Syndrome I : Introduction

655
Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of...
655
Acute Coronary Syndrome I: Introduction01:30

Acute Coronary Syndrome I: Introduction

1.0K
Acute Coronary Syndrome (ACS) encompasses a spectrum of heart conditions caused by sudden obstruction of coronary arteries, typically resulting from the rupture of an atherosclerotic plaque and subsequent thrombus (blood clot) formation. This obstruction can lead to partial or complete blockage of blood flow, causing varying degrees of myocardial ischemia or infarction.ACS includes the following clinical entities:Unstable Angina (UA)Non-ST-Elevation Myocardial Infarction (NSTEMI)ST-Elevation...
1.0K
Irritable Bowel Syndrome I: Introduction01:17

Irritable Bowel Syndrome I: Introduction

1.0K
Irritable Bowel Syndrome (IBS) is characterized by functional disturbances in the gastrointestinal system, presenting a cluster of symptoms without evident structural or biochemical abnormalities. It primarily affects the large intestine and may cause abdominal pain, bloating, excessive gas, diarrhea, constipation, or both.
IBS is a chronic condition that can persist over a long period or recur frequently.
The pathogenesis of IBS involves a complex interplay of the following factors:
Altered...
1.0K
Pharmaceutical Alternatives: Polymorphic Form-Related and Particle Size-Related Therapeutic Nonequivalence01:27

Pharmaceutical Alternatives: Polymorphic Form-Related and Particle Size-Related Therapeutic Nonequivalence

177
Changes in polymorphic forms can significantly influence the bioavailability of poorly soluble drugs. Although the FDA defines pharmaceutical equivalence based on having the same active ingredient, dosage form, and route of administration, it does not automatically disqualify products with different polymorphic forms. This means two products with different polymorphs can still be deemed pharmaceutically equivalent. However, polymorphic differences can affect properties like wettability,...
177

您也可能阅读

相关文章

通过共同作者、期刊和引用图与本文相关的文章。

排序
Same authorSame journal

[Prognostic significance of dynamic evaluation of C-peptide level in prediction type 1 diabetes mellitus in children].

Problemy endokrinologii·2026
Same authorSame journal

[Complications of Pseudohypoparathyroidism and Congenital Forms of Hypoparathyroidism in Children].

Problemy endokrinologii·2026
Same author

[Clinical, hormonal and molecular genetic characteristics of 18 cases of disorders of sex development (DSD) 46,XY associated with variants in the <i>SRD5A2</i> gene].

Problemy endokrinologii·2026
Same author

[Differentiated thyroid carcinoma in children and adolescents].

Problemy endokrinologii·2026
Same author

[Non-classic lipoid adrenal hyperplasia: clinical cases report].

Problemy endokrinologii·2026
Same author

[Unsolved dental problems in children with congenital hyperinsulin].

Stomatologiia·2025
JoVE
x logofacebook logolinkedin logoyoutube logo
关于 JoVE
概览领导团队博客JoVE 帮助中心
作者
出版流程编辑委员会范围与政策同行评审常见问题投稿
图书馆员
用户评价订阅访问资源图书馆顾问委员会常见问题
研究
JoVE JournalMethods CollectionsJoVE Encyclopedia of Experiments存档
教育
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab Manual教师资源中心教师网站
使用条款与条件
隐私政策
政策

相关实验视频

Updated: Feb 6, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
07:00

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

Published on: April 1, 2019

10.4K

[卡勒 - 斯综合征多态]

E N Raykina1, A A Kolodkina1, A V Bolmasova1

  • 1Endocrinology Research Centre.

Problemy endokrinologii
|February 5, 2026
PubMed
概括

卡勒-斯综合征是由GLI2基因变异引起的,显示出显著的临床多样性和不完全的透性. 这项研究强调了在受影响的儿童中缺乏明确的基因型-表型相关性.

科学领域:

  • 遗传学 是一个遗传学.
  • 儿科 儿科 儿科
  • 内分泌学 在内分泌学.

背景情况:

  • 卡勒-斯综合征是一种罕见的自体主导性疾病,与GLI2基因有关.
  • 它的临床表现是高度可变的,包括hypopituitarism,器官发育不良,面部异形,和polydactyly.
  • 不完全的透度和可变的表达力是特征,即使在家庭内.

研究的目的:

  • 研究卡勒-斯综合征的临床和分子遗传特征.
  • 为了分析被诊断为卡勒-斯综合征的患者的多态性.

主要方法:

  • 一个单一中心的非干预性研究,涉及具有基因确诊的卡勒-斯综合征的儿童.
  • 进行了全面的临床检查,实验室测试和仪器诊断.
  • 下一代测序 (NGS) 用于分子遗传分析.

主要成果:

  • 研究了18名患有GLI2基因变异的儿童 (7名女性,11名男性).
  • 所有参与者都表现出生长激素缺乏症;13人患有中央甲状腺功能低下症,10人患有二次性低皮质.
  • 在一半的患者中观察到额外的hypophyseal表现,包括面异常和器官形.

更多相关视频

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
07:24

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

2.0K
The Visual Colorimetric Detection of Multi-nucleotide Polymorphisms on a Pneumatic Droplet Manipulation Platform
10:01

The Visual Colorimetric Detection of Multi-nucleotide Polymorphisms on a Pneumatic Droplet Manipulation Platform

Published on: September 27, 2016

8.0K

相关实验视频

Last Updated: Feb 6, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
07:00

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

Published on: April 1, 2019

10.4K
Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
07:24

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

2.0K
The Visual Colorimetric Detection of Multi-nucleotide Polymorphisms on a Pneumatic Droplet Manipulation Platform
10:01

The Visual Colorimetric Detection of Multi-nucleotide Polymorphisms on a Pneumatic Droplet Manipulation Platform

Published on: September 27, 2016

8.0K

结论:

  • 卡勒-斯综合征呈现出显著的临床多态性.
  • 对于这种情况,没有明确的基因型-表型相关性被确定.