相关实验视频

Updated: Jun 29, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.6K

新的PTCH1突变导致戈林-戈尔茨综合征

Hai Tang Yue, Hai Yan Cao, Miao He

    The Chinese journal of dental research
    |March 28, 2024
    PubMed
    概括

    研究人员在一个患有戈林-戈尔茨综合征 (GS) 的中国家庭中发现了一种新的PTCH1基因突变. 这一发现有助于早期诊断和查这种遗传性疾病.

    关键词:
    戈林 - 戈尔茨综合征 (Gorlin-Goltz综合征) 是一种在 PTCH1 中.突变是一种突变.无基底细胞癌综合征整体外因子测序的测序

    更多相关视频

    Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens09:33

    Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

    Published on: August 25, 2023

    1.1K
    Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells09:37

    Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells

    Published on: August 25, 2021

    1.8K

    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,...
    40.4K
    Cancer-Critical Genes I: Proto-oncogenes01:33

    Cancer-Critical Genes I: Proto-oncogenes

    Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
    When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
    Such genes that act...
    8.8K
    The Retinoblastoma Gene01:20

    The Retinoblastoma Gene

    Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
    The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
    4.1K
    Cancer-Critical Genes II: Tumor Suppressor Genes01:05

    Cancer-Critical Genes II: Tumor Suppressor Genes

    Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
    When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
    Such genes that act...
    7.4K