相关实验视频

Updated: Jul 19, 2025

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

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

Published on: August 20, 2019

删除Tmem263会破坏GH/IGF-1轴,导致矮化,并损害骨收购

Dylan C Sarver¹, Jean Garcia-Diaz^2,3,4, Muzna Saqib¹

¹Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

bioRxiv : the preprint server for biology

|August 14, 2023

概括

TMEM263基因对于产后生长至关重要,它调节生长激素/IGF-1轴. 它的缺失导致矮化和骨发育受损,这表明它在生长激素不敏感性中起作用.

科学领域:

遗传学是一个遗传学.
内分泌学在内分泌学.
骨生物学骨生物学

背景情况:

全基因组关联研究 (GWAS) 将TMEM263与骨矿物质密度和生长联系起来.
在TMEM263中发生的突变与矮体和骨发育不良有关.
对于TMEM263在产后生长中的确切功能尚不清楚.

结论:

TMEM263在调节产后生长方面起着因果作用.
TMEM263对于正常的骨形成和纵向骨生长至关重要.
TMEM263变种可能会导致生长激素不敏感,并损害线性生长.

关键词:

在 GHR 中,GHR 是指 GHR 的最大值.在IGF-1的基础上,IGF-1 拉伦矮体主义是什么?增长激素增长激素的使用方法增长激素不敏感增长激素不敏感骨发育不良症骨发育不良症

更多相关视频

In Vivo Modeling of the Morbid Human Genome using Danio rerio

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model

Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model

Published on: July 3, 2020

相关概念视频

TGF - β Signaling Pathway

TGF - β Signaling Pathway

The TGF-β signaling pathway regulates cell growth, differentiation, adhesion, motility, and development. TGF-β ligands that induce TGF-β signaling are synthesized in their latent form. Several proteases or cell surface receptors such as integrins act upon the latent form, releasing the active ligand. There are three types of mammalian TGF-βs: (TGF-β1, TGF-β2, and TGF-β3) that bind as homodimers or heterodimers to TGF-β receptors. The TGF-β receptors...

Genomic Imprinting and Inheritance

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...