相关实验视频

Updated: Sep 17, 2025

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
07:26

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

Published on: July 18, 2017

11.9K

与 COL1 相关的重叠障碍:一种新兴的表型,与单基和双基基 COL1A1/2 变体相关

Nehal F Hassib1, Rasha M Elhossini2, Inas S M Sayed3

  • 1Orodental Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt; Dental consultant, School of Dentistry, New Giza University, Giza, Egypt.

Archives of oral biology
|July 2, 2025
PubMed
概括

这项研究在类似于骨质不完美的骨质发生的异常骨状况的家庭中发现了新的COL1A1/2基因变异. 这些发现扩大了对COL1相关疾病及其遗传基础的理解.

关键词:
C1ROD C1ROD C1ROD C1ROD C1ROD C1ROD C1ROD C1ROD C1ROD C1ROD C1ROD C1ROD C1ROD C1ROD C1ROD C1ROD C1ROD C1ROD C1ROD C1ROD C1ROD C1ROD C1ROD在 COL1A1A1 中,在 COL1A2A2 中使用.牙生殖不完美症 (Dentinogenesis Imperfecta) 是一个不完美的疾病.外体序列的排序是如何进行的骨质疏松症是一种骨质疏松症.

更多相关视频

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

9.9K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila06:41

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

Published on: August 20, 2019

13.8K

相关概念视频

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
41.2K
Cohesins02:20

Cohesins

Cohesin protein complexes are a molecular glue that holds two sister chromatids together. They play an important role both in mitosis and meiosis. In mitosis, all cohesin complexes present on the chromosomes are removed before the start of the anaphase stage.
Cohesin complexes in Meiotic Division
Meiosis involves two distinct rounds of chromosomal segregation and cell divisions— Meiosis I followed by Meiosis II – producing four daughter cells. Meiosis I includes the separation of...
4.7K
Multiple Allele Traits01:49

Multiple Allele Traits

The Concept of Multiple Allelism
35.0K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
18.0K
Fibril-associated Collagen01:11

Fibril-associated Collagen

Fibril-associated collagens are a type of collagens present in the extracellular matrix with interrupted triple helices or FACIT (Fibril-associated collagens interrupted triple-helices). FACIT help connect and attach the collagen fibrils with each other as well as with other proteins of the extracellular matrix.
For example, the type II collagen fibrils in cartilage have covalently bound type IX fibril-associated collagens at regular intervals. Other types of fibril-associated collagens are...
2.7K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
14.4K