WP4875 - Disruption of postsynaptic signaling by CNV - Homo sapiens

NIAID Data Ecosystem2026-05-02 收录

突触后信号传导异常

拷贝数变异致病机制

数据链接：

https://www.ndexbio.org/viewer/networks/c862ae58-5c72-11ec-b3be-0ac135e8bacf 数据链接链接失效反馈

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This pathway describes the disruption of postsynaptic signaling due to missing genes caused by copy number variations (CNVs).

创建时间：

2025-04-17

Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders

神经精神疾病遗传

拷贝数变异致病机制

Duplications at 15q11.2-q13.3 overlapping the Prader-Willi/Angelman syndrome (PWS/AS) region have been associated with developmental delay (DD), autism spectrum disorder (ASD) and schizophrenia (SZ).

NIAID Data Ecosystem40

Network Topologies and Convergent Aetiologies Arising from Deletions and Duplications Observed in Individuals with Autism

自闭症遗传网络

拷贝数变异致病机制

Autism Spectrum Disorders (ASD) are highly heritable and characterised by impairments in social interaction and communication, and restricted and repetitive behaviours. Considering four sets of de nov

NIAID Data Ecosystem20

Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal Dysgenesis

性发育障碍（DSD）遗传病因

拷贝数变异致病机制

Disorders of sex development (DSD), ranging in severity from mild genital abnormalities to complete sex reversal, represent a major concern for patients and their families. DSD are often due to disrup

Figshare2011-03-07 更新00

Multiple de novo copy number variant (MdnCNV) driven mirror traits and blended phenotype. Multiple de novo copy number variant (MdnCNV) driven mirror traits and blended phenotype

拷贝数变异致病机制

基因型-表型关联分析

Purpose: To determine the genetic variation underlying phenotypic trait manifestation in a Multiple de novo copy number variant (MdnCNV) case. Method: Clinical microarray identified a previously unrep

NIAID Data Ecosystem30

Identification of a novel deafness gene: functional studies of candidate genes to DFNA58 locus

遗传性耳聋基因鉴定

拷贝数变异致病机制

Through CNV analysis of data from exome sequencing, MLPA (multiplex ligation-dependent probe amplification) and RT-qPCR, we revealed the gene responsible for DFNA58 HL: 20 affected family members inhe

NIAID Data Ecosystem20

WP4875 - Disruption of postsynaptic signaling by CNV - Homo sapiens

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