|
[D]Sleep disturbances (& [hypersomnia] or [insomnia])
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
The sleep disruptions in Nlgn3 KO rats are consistent with observations of sleep disturbances in ASD patients.
|
28958035 |
2017 |
|
Ureteral obstruction
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
In a series of validation experiments, we tested mice with different pathologies, including neuroligin-3 deficient mice (male Nlgn3<sup>y/-</sup> and female Nlgn3<sup>+/-</sup>) for autistic behavior, oligodendrocyte-specific erythropoietin receptor knockout (oEpoR<sup>-/-</sup>) mice for cognitive impairment, as well as mouse models of renal failure (unilateral ureteral obstruction and 5/6 nephrectomy) and of type 2 diabetes (ApoE<sup>-/-</sup>) - for delineating potentially confounding effects of motivational factors (thirst, glucose-craving) on learning and memory assessments.
|
29474958 |
2018 |
|
Stereotypic Movement Disorder
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Stereotyped Behavior
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Social Communication Disorder
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The Neuroligin-3 (NL3) mouse, expressing a R451C mutation discovered in two Swedish brothers with ASD, exhibits impaired social interactions and heightened aggressive behavior towards male mice.
|
28255463 |
2017 |
|
Sleep disturbances
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
The sleep disruptions in Nlgn3 KO rats are consistent with observations of sleep disturbances in ASD patients.
|
28958035 |
2017 |
|
Sleep Disorders
|
0.010 |
GeneticVariation
|
group |
BEFREE |
The sleep disruptions in Nlgn3 KO rats are consistent with observations of sleep disturbances in ASD patients.
|
28958035 |
2017 |
|
Seizures
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Sciatic Neuropathy
|
0.200 |
Biomarker
|
disease |
RGD |
Down-regulation of mRNAs for synaptic adhesion molecules neuroligin-2 and -3 and synCAM1 in spinal motoneurons after axotomy.
|
17492651 |
2007 |
|
Schizophrenia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In humans, mutations in NLGN3 and NLGN4 are linked to autism and schizophrenia; NLGN2 missense variants are implicated in schizophrenia.
|
27865048 |
2017 |
|
Restrictive behavior
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Poor school performance
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
Pervasive Development Disorder
|
0.050 |
GeneticVariation
|
group |
BEFREE |
Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment.
|
31184401 |
2019 |
|
Pervasive Development Disorder
|
0.050 |
GeneticVariation
|
group |
BEFREE |
Sleep/Wake Physiology and Quantitative Electroencephalogram Analysis of the Neuroligin-3 Knockout Rat Model of Autism Spectrum Disorder.
|
28958035 |
2017 |
|
Pervasive Development Disorder
|
0.050 |
GeneticVariation
|
group |
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 |
|
Pervasive Development Disorder
|
0.050 |
GeneticVariation
|
group |
BEFREE |
A recent study reported that a mutation of neuroligin-3 (NL3), an X-linked gene, was found in siblings with autistic spectrum disorder in which two affected brothers had a point mutation that substituted a Cys for Arg451.
|
15152050 |
2004 |
|
Pervasive Development Disorder
|
0.050 |
Biomarker
|
group |
BEFREE |
High resolution magnetic resonance imaging for characterization of the neuroligin-3 knock-in mouse model associated with autism spectrum disorder.
|
25299583 |
2014 |
|
Overgrowth
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.
|
12669065 |
2003 |
|
Overgrowth
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Variations analysis of NLGN3 and NLGN4X gene in Chinese autism patients.
|
24570023 |
2014 |
|
Overgrowth
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Disorder-associated mutations lead to functional inactivation of neuroligins.
|
15150161 |
2004 |
|
Overgrowth
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
|
23849776 |
2013 |
|
Neurodevelopmental Disorders
|
0.010 |
Biomarker
|
group |
BEFREE |
Our report of two missense variants affecting the normal localization of NLGN3 in a total of five affected individuals reinforces the involvement of the NLGN3 gene in a neurodevelopmental disorder characterized by ID and ASD.
|
31184401 |
2019 |
|
Neuroblastoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
In summary, we found NLGN3 promoted neuroblastoma cell proliferation and growth through activating PI3K/AKT pathway and providing a new target for neuroblastoma therapy.
|
31150649 |
2019 |
|
Neoplasms
|
0.010 |
Biomarker
|
group |
BEFREE |
ADAM10 inhibitors prevent the release of NLGN3 into the tumour microenvironment and robustly block HGG xenograft growth.
|
28959975 |
2017 |
|
Mental Retardation
|
0.120 |
GeneticVariation
|
disease |
BEFREE |
The phenotypes of genes causing syndromic and non-syndromic mental retardation (NLGN3, NLGN4, RPS6KA3(RSK2), OPHN1, ATRX, SLC6A8, ARX, SYN1, AGTR2, MECP2, PQBP1, SMCX, and SLC16A2) are first discussed, as these may be the focus of more targeted mutation analysis.
|
16118346 |
2006 |