相关实验视频

Updated: Jul 20, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

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

Published on: August 20, 2019

13.7K

与智力障碍患者队列中的通道编码基因功能障碍相关的基因型和表型的特征

Naeim Ehtesham1, Meysam Mosallaei1, Maryam Beheshtian1

  • 1Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

Archives of Iranian medicine
|August 6, 2023
PubMed
概括

离子通道基因突变与智力障碍 (ID) 和发育迟缓 (DD) 有关. 这项研究扩大了对这些遗传变异及其相关神经症状的理解.

关键词:
道病变是一种通道病变.发育迟缓 发展迟缓基因型 基因型 基因型智力障碍 智力障碍是一种智力障碍.现象型 现象型 是一种表现型.

更多相关视频

Studying Protein Function and the Role of Altered Protein Expression by Antibody Interference and Three-dimensional Reconstructions11:57

Studying Protein Function and the Role of Altered Protein Expression by Antibody Interference and Three-dimensional Reconstructions

Published on: April 21, 2016

6.7K
Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane07:38

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane

Published on: March 30, 2015

9.3K

相关概念视频

Intellectual Disability01:29

Intellectual Disability

Intellectual disability (ID) is a neurodevelopmental condition characterized by deficits in intellectual and adaptive functioning that manifest during the developmental period. This condition encompasses challenges in reasoning, memory, problem-solving, and learning, accompanied by impairments in everyday life skills, such as communication, self-care, and social interactions. Intellectual disability affects approximately 1% of the population in the United States, impacting an estimated 5...
117
Genetic Lingo01:11

Genetic Lingo

Overview
103.2K
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
612
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
34.7K
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,...
40.6K
Inheritance01:25

Inheritance

Gregor Mendel's pioneering work on the principles of inheritance fundamentally transformed our understanding of how traits are transmitted from generation to generation. His experiments with pea plants laid the groundwork for the discovery of genes, discrete units within organisms that control heredity.
Each gene exists in pairs, and the combination of these genes from both parents forms an individual's genotype. This genotype is a blueprint of potential traits. Examples of genotype...
422