|
Abnormal behavior
|
0.020 |
Biomarker
|
phenotype |
BEFREE |
The genetic variants of NLGN4 affect the biological function of NL4, resulting in the manifestation of different psychiatric disorders.
|
20714171 |
2010 |
|
Abnormal behavior
|
0.020 |
GeneticVariation
|
phenotype |
BEFREE |
However, despite the deletion of NLGN4X and all VCX genes, including VCX-3A, our patient did not manifest any learning disabilities or behavioural problems.
|
18194880 |
2008 |
|
Adrenal Gland Pheochromocytoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Transcriptional profiling analysis classified the tumor within cluster 2 of PCCs/PGLs (without SDH gene mutations) and identified downregulation of genes involved in neuronal development and homeostasis (NLGN4, CD99 and CSF2RA) as well as upregulation of Drosha, an important gene involved in miRNA and rRNA processing.
|
27209355 |
2016 |
|
Alcoholic Intoxication, Chronic
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
We found that, after experiment-wide correction, two SNPs on the X chromosome were associated significantly with alcohol dependence in European-American men (P = 1.0 × 10 for rs5916144 and P = 5.5 × 10 for rs5961794 at 3' UTR of NLGN4X), but not in the women.
|
23907288 |
2013 |
|
Alcoholic Intoxication, Chronic
|
0.310 |
Biomarker
|
disease |
PSYGENET |
We found that, after experiment-wide correction, two SNPs on the X chromosome were associated significantly with alcohol dependence in European-American men (P = 1.0 × 10 for rs5916144 and P = 5.5 × 10 for rs5961794 at 3' UTR of NLGN4X), but not in the women.
|
23907288 |
2013 |
|
ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2 (finding)
|
0.400 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2 (finding)
|
0.400 |
SusceptibilityMutation
|
disease |
CLINVAR |
|
|
|
|
Atypical autism
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
To analyze whether genetic variants in the NLGN3 and NLGN4X genes occurs in patients with autistic disorders on high functioning level, we performed a mutation screen of both genes using SSCP in 107 probands with Asperger syndrome, high-functioning autism and atypical autism.
|
18189281 |
2008 |
|
Autism Spectrum Disorders
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Gephyrin has well-established functional links with several synaptic proteins that have been implicated in genetic risk for neurodevelopmental disorders such as autism spectrum disorder (ASD), schizophrenia and epilepsy including the neuroligins (NLGN2, NLGN4), the neurexins (NRXN1, NRXN2, NRXN3) and collybistin (ARHGEF9).
|
23393157 |
2013 |
|
Autism Spectrum Disorders
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
7 known ASDs-related rare variants in NLGN3 and NLGN4X genes were screened for replication of the initial findings and 12 intronic tagging single nucleotide polymorphisms (SNPs) were genotyped for case-control association analysis in a total of 229 ASDs cases and 184 control individuals in a Chinese Han cohort, using matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) mass spectrometry.
|
21569590 |
2011 |
|
Autism Spectrum Disorders
|
0.400 |
Biomarker
|
disease |
BEFREE |
Here we report mutations in two X-linked genes encoding neuroligins NLGN3 and NLGN4 in siblings with autism-spectrum disorders.
|
12669065 |
2003 |
|
Autism Spectrum Disorders
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Viewed together, these observations suggest that a point mutation in NL4 can cause ASD by a loss-of-function mechanism.
|
19726642 |
2009 |
|
Autism Spectrum Disorders
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in human NLGN4 are among the causes of autism spectrum disorders.
|
29106499 |
2018 |
|
Autism Spectrum Disorders
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Family-based association analysis in 100 families with autism spectrum disorders yielded only modest associations at NLGN1 (rs1488545, P=0.002), NLGN3 (DXS7132, P=0.014), and NLGN4 (DXS996, P=0.031).
|
16077734 |
2005 |
|
Autism Spectrum Disorders
|
0.400 |
Biomarker
|
disease |
BEFREE |
Recent studies reported that sequence polymorphisms in neuroligin-3 (NLGN3) and neuroligin-4 (NLGN4) genes have been linked to autism spectrum disorders indicating neuroligin genes as candidate targets in brain disorders.
|
18555979 |
2008 |
|
Autism Spectrum Disorders
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Notwithstanding complexities, our results further implicate the SHANK3-NLGN4-NRXN1 postsynaptic density genes and also identify novel loci at DPP6-DPP10-PCDH9 (synapse complex), ANKRD11, DPYD, PTCHD1, 15q24, among others, for a role in ASD susceptibility.
|
18252227 |
2008 |
|
Autism Spectrum Disorders
|
0.400 |
Biomarker
|
disease |
CTD_human |
Notwithstanding complexities, our results further implicate the SHANK3-NLGN4-NRXN1 postsynaptic density genes and also identify novel loci at DPP6-DPP10-PCDH9 (synapse complex), ANKRD11, DPYD, PTCHD1, 15q24, among others, for a role in ASD susceptibility.
|
18252227 |
2008 |
|
Autism Spectrum Disorders
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Since neuroligin3 (NLGN3), a cell adhesion molecule at the neuronal synapse, was first identified as a risk gene for ASD, several additional variants in NLGN3 and NLGN4 were found in ASD patients.
|
28841651 |
2017 |
|
Autism Spectrum Disorders
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We conclude that there is no evidence for an involvement of NLGN3 and NLGN4X genetic variants with autism spectrum disorder on high functioning level in our study group.
|
18189281 |
2008 |
|
Autism Spectrum Disorders
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Two specific point mutations in NLGN3 and NLGN4 genes, involved in autistic spectrum disorder, were further characterized in this experimental system.
|
22723984 |
2012 |
|
Autism Spectrum Disorders
|
0.400 |
Biomarker
|
disease |
BEFREE |
DHT-DEGs appear enriched in genes involved in ASD (ASXL3, NLGN4X, etc.), associated with ASD (NRCAM), or differentially expressed in patients with ASD (FAM107A, IGFBP5).
|
29428674 |
2018 |
|
Autism Spectrum Disorders
|
0.400 |
Biomarker
|
disease |
BEFREE |
Association analysis of 6 common SNPs in NLGN4 did not find significant difference between ASD cases and controls.
|
23468870 |
2013 |
|
Autism Spectrum Disorders
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Genetic mutations in NLGN4X (neuroligin 4), including point mutations and copy number variants (CNVs), have been associated with susceptibility to autism spectrum disorders (ASDs).
|
23710042 |
2013 |
|
Autism Spectrum Disorders
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We investigated this issue by analyzing these regions in patients with ASDs and no mutation in the NLGN4X coding sequence.
|
19545860 |
2009 |
|
Autism Spectrum Disorders
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Point mutations have been identified in X-linked Neuroligin (NLGN) 3 and 4X genes in patients with ASDs and all of these reside in their extracellular domains except for a single point mutation in the cytoplasmic domain of NLGN4X in which an arginine is mutated to a cysteine (R704C).
|
25675530 |
2015 |