相关实验视频

Updated: Jun 12, 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

13.6K

一个罕见的骨发育不良病例:ACAN基因中的双变异

Gülçin Arslan1, Filiz Hazan2, Gülin Tabanlı1

  • 1Department of Pediatric Endocrinology, Dr. Behçet Uz Training and Research Hospital, University of Health Science, Izmir, Türkiye.

Journal of pediatric endocrinology & metabolism : JPEM
|September 19, 2024
PubMed
概括

脊柱状表皮细胞失生症- (SEMD-ACAN) 是一种罕见的遗传疾病,由于ACAN基因突变,导致严重的矮身和骨问题. 基因检测对于生长迟缓等特征性症状至关重要.

关键词:
这就是SEMD-ACANAN.骨发育不良症 骨发育不良症脊髓皮性形性形症 (spondyloepimetaphyseal dysplasia) 是一种发生在脊髓中的疾病.

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

9.7K
Shifting Zebrafish Lethal Skeletal Mutant Penetrance by Progeny Testing08:39

Shifting Zebrafish Lethal Skeletal Mutant Penetrance by Progeny Testing

Published on: September 1, 2017

7.6K

相关概念视频

Lethal Alleles02:41

Lethal Alleles

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...
15.4K
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...
34.1K
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,...
40.3K
Pedigree Analysis01:35

Pedigree Analysis

Overview
84.1K
Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
21.0K
Sex-linked Disorders01:43

Sex-linked Disorders

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.
101.8K