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p(HGNC:ADNP, pmod(MESH:Haploinsufficiency))

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Entity

Name
ADNP
Namespace
hgnc
Namespace Version
20190224
Namespace URL
https://raw.githubusercontent.com/pharmacome/terminology/c328ad964c08967a0417a887510b97b965a62fa5/external/hgnc-names.belns

Appears in Networks 3

Activity-dependent neuroprotective protein deficiency models synaptic and developmental phenotypes of autism-like syndrome v1.0.0

The autism/neuroprotection-linked ADNP/NAP regulate the excitatory glutamatergic synapse v1.0.0

Activity-dependent neuroprotective protein (ADNP) is an alcohol-responsive gene and negative regulator of alcohol consumption in female mice v1.0.0

In-Edges 5

bp(MESH:"Body Height") negativeCorrelation p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) View Subject | View Object

Initially, we checked for mouse length (potentially corresponding to stature in an ADNP syndrome child) and discovered shorter lengths as the Adnp+/– mice matured, starting earlier in males (Figure 6, A and B). PubMed:30106381

Appears in Networks:

p(HGNC:ADNP) hasVariant p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) View Subject | View Object

Appears in Networks:

composite(a(PUBCHEM:9832404), p(HGNC:ADNP, pmod(MESH:Haploinsufficiency))) hasComponent p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) View Subject | View Object

Appears in Networks:

path(MESH:"Weight Gain") negativeCorrelation p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) View Subject | View Object

Supplemental Figure 12 shows marked delays in weight gain that were also sex dependent (apparent earlier in females). PubMed:30106381

Appears in Networks:

composite(a(CHEBI:chlorobutanol), p(HGNC:ADNP, pmod(MESH:Haploinsufficiency))) hasComponent p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) View Subject | View Object

Appears in Networks:

Out-Edges 57

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) decreases a(GO:"dendritic spine") View Subject | View Object

The measurements showed similar patterns in both tested brain areas, with Adnp deficiency resulting in substantial decreases in spine density (male and female mice) and increases in PSD95-asymmetric shaft synapses (males only, as indicated by increased localization of PSD95 in dendritic shafts rather than spines), which were all rescued by NAP treatment. PubMed:30106381

Appears in Networks:
Annotations
MeSH
CA1 Region, Hippocampal
MeSH
Cerebral Cortex
MeSH
Pyramidal Cells
Gender
Male
Gender
Female

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) decreases a(GO:"dendritic spine") View Subject | View Object

Closer inspection suggested a more severe Adnp+/– genotype effect on total spine density in the male cortex compared with the hippocampus (Figure 1A, –1.56-fold reduction compared with Figure 2A, –1.83-fold reduction compared with the Adnp+/+ genotype). PubMed:30106381

Appears in Networks:
Annotations
MeSH
Cerebral Cortex
MeSH
Hippocampus
Gender
Male

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) decreases a(GO:"dendritic spine") View Subject | View Object

In hippocampal CA1 pyramidal cells, all dendritic spine subtypes were reduced in the Adnp+/– mice, except for the thin spines observed in males. The spine loss was rescued by NAP treatment, except for the stubby spines seen in males (Supplemental Figure 1). PubMed:30106381

Appears in Networks:
Annotations
MeSH
CA1 Region, Hippocampal
MeSH
Pyramidal Cells
Gender
Male
Gender
Female

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) decreases a(GO:"dendritic spine") View Subject | View Object

Supplemental Figure 2 shows the cortical spine data indicating a significant genotype effect (P < 0.01) and NAP rescue for all subtypes in males (P < 0.05). PubMed:30106381

Appears in Networks:
Annotations
MeSH
Cerebral Cortex
Gender
Male

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) decreases a(GO:"dendritic spine") View Subject | View Object

Further sex comparisons revealed differences in excitatory synapse numbers, with the Adnp+/– male mice showing significantly reduced hippocampal spine density, coupled with increased immature pathologic excitatory shaft synapses compared with Adnp+/– female mice (P < 0.01, Supplemental Table 2) PubMed:30106381

Appears in Networks:
Annotations
MeSH
Hippocampus
Gender
Male

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) increases p(HGNC:DLG4) View Subject | View Object

The measurements showed similar patterns in both tested brain areas, with Adnp deficiency resulting in substantial decreases in spine density (male and female mice) and increases in PSD95-asymmetric shaft synapses (males only, as indicated by increased localization of PSD95 in dendritic shafts rather than spines), which were all rescued by NAP treatment. PubMed:30106381

Appears in Networks:
Annotations
MeSH
CA1 Region, Hippocampal
MeSH
Cerebral Cortex
MeSH
Pyramidal Cells
Gender
Male

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) increases p(HGNC:DLG4) View Subject | View Object

This genotype- and sex-dependent pathology also extended to the cortex, with increased PSD95 shaft synapse density in Adnp+/– males compared with Adnp+/– females (P < 0.01), and was rescued by NAP treatment. PubMed:30106381

Appears in Networks:
Annotations
MeSH
Cerebral Cortex
Gender
Male

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) increases a(GO:"excitatory synapse") View Subject | View Object

Further sex comparisons revealed differences in excitatory synapse numbers, with the Adnp+/– male mice showing significantly reduced hippocampal spine density, coupled with increased immature pathologic excitatory shaft synapses compared with Adnp+/– female mice (P < 0.01, Supplemental Table 2) PubMed:30106381

Appears in Networks:
Annotations
MeSH
Hippocampus
Gender
Male

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) increases a(GO:"excitatory synapse") View Subject | View Object

Measurements of PSD95 for excitatory shaft synapse volumes (indicative of synaptic maturation) showed significant increases in Adnp+/– mice in both hippocampus and cortex (P < 0.05), but not in the male mouse cortical spines. We observed a further increase with NAP treatment in female mice only, suggesting a compensatory effect (Supplemental Figures 1 and 2, insets). PubMed:30106381

Appears in Networks:
Annotations
MeSH
Cerebral Cortex
MeSH
Hippocampus
Gender
Male

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) regulates complex(p(HGNC:ADNP), p(HGNC:DLG4)) View Subject | View Object

Figure 3, Supplemental Figure 5 (younger age group), Supplemental Figure 6 (older age group), and Supplemental Tables 5 and 8 reveal an overall similar pattern of Adnp genotype–and NAP treatment–regulated human and mouse protein product interactions across ages with Akt1 (the mosaic mutations of which lead to the Proteus syndrome, characterized by the overgrowth of skin, connective tissue, brain, and other tissues; ref. 37) and discs large MAGUK scaffold protein 4 (Dlg4, also known as Psd95), a key regulator of synaptic plasticity (see above) that plays central roles associated with ADNP and NAP function. PubMed:30106381

Appears in Networks:

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) regulates complex(p(HGNC:ADNP), p(HGNC:AKT1)) View Subject | View Object

Figure 3, Supplemental Figure 5 (younger age group), Supplemental Figure 6 (older age group), and Supplemental Tables 5 and 8 reveal an overall similar pattern of Adnp genotype–and NAP treatment–regulated human and mouse protein product interactions across ages with Akt1 (the mosaic mutations of which lead to the Proteus syndrome, characterized by the overgrowth of skin, connective tissue, brain, and other tissues; ref. 37) and discs large MAGUK scaffold protein 4 (Dlg4, also known as Psd95), a key regulator of synaptic plasticity (see above) that plays central roles associated with ADNP and NAP function. PubMed:30106381

Appears in Networks:

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) decreases p(HGNC:FPR3) View Subject | View Object

In the young, developing mouse, specific Adnp genotype– and NAP-regulated hippocampal transcripts included a reduction and rescue of formyl peptide receptor 3 (Fpr-rs3) in males only, in agreement with the previous genotype-associated reduction we observed in the developing embryo (2). PubMed:30106381

Appears in Networks:
Annotations
MeSH
Hippocampus

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) increases p(HGNC:TUBB1) View Subject | View Object

Tubulin β 1 class VI (Tubb1) increased in the Adnp+/– female mouse and was rescued by NAP treatment, thus correlating with our genotype-related RNA-seq data (6) (Figure 4A). PubMed:30106381

Appears in Networks:
Annotations
Gender
Female

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) regulates act(p(HGNC:LIPA)) View Subject | View Object

In the 3-month-old hippocampi (Figure 4B), we found significant sex-dependent changes for Adnp+/– gene regulation and NAP rescue in the following genes in male mice: (a) apolipoprotein E (Apoe), the lead gene for Alzheimer’s disease risk, which was shown before to be a major gene regulated by ADNP (10, 13); (b) Gm21949, which is suggested to play a role in calcium-mediated responses, action potential conduction in myelinated cells, and axonal outgrowth and guidance (6); (c) lipase A (Lipa), which is related to lipid metabolism and was previously shown to be regulated by the Adnp genotype in mice (3); (d) autism-associated neuroligin 2 (Nlgn2), a postsynaptic membrane cell adhesion protein that mediates the formation and maintenance of synapses between neurons (12); (e) paired box protein 6 (Pax6), a key regulator in glutamatergic neuronal differentiation (38) and cortical development (39), which was shown before by us to be regulated by ADNP (complete knockout of Adnp rendered Pax6 expression undetectable in the brain primordium, contrasting with increased expression in Adnp+/– embryos [ref. 1] and in subcortical brain domains of 2-month-old male Adnp+/– mice [ref. 3]); and (f) Wolframin endoplasmic reticulum transmembrane glycoprotein (Wfs1), which is associated with neurodegeneration and cellular calcium homeostasis regulation and was previously shown to be regulated by NAP (34). PubMed:30106381

Appears in Networks:
Annotations
MeSH
Hippocampus
Gender
Male

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) decreases p(HGNC:HIST1H3B) View Subject | View Object

In the mature cerebral cortex, only histone cluster 1 H3 family member B (Hist1h3b), which was one of the major transcripts downregulated in the hippocampi of 5-month-old Adnp+/–mice compared with Adnp+/+ mice (6, 17), was found here to be downregulated in the female Adnp+/– mouse. This effect was now shown to be reversed by NAP treatment (Figure 4B). PubMed:30106381

Appears in Networks:
Annotations
MeSH
Cerebral Cortex
MeSH
Hippocampus
Gender
Female

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) regulates p(HGNC:HIST1H3B) View Subject | View Object

Female cortical Hist1h3b was found to be regulated only by the Adnp+/– genotype. PubMed:30106381

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Gender
Female

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) increases p(HGNC:ABCF3) View Subject | View Object

In male mice, the ATP-binding cassette subfamily F member 3 (Abcf3), bone morphogenetic protein 4 (Bmp4), cadherin 17 (Cdh17), lysine demethylase 5d (Kdm5d), Kruppel-like factor 1 (Klf1), and period circadian regulator 1 (Per1) were upregulated as a consequence of Adnp haploinsufficiency and rescued by NAP PubMed:30106381

Appears in Networks:
Annotations
Gender
Male

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) increases p(HGNC:BMP4) View Subject | View Object

In male mice, the ATP-binding cassette subfamily F member 3 (Abcf3), bone morphogenetic protein 4 (Bmp4), cadherin 17 (Cdh17), lysine demethylase 5d (Kdm5d), Kruppel-like factor 1 (Klf1), and period circadian regulator 1 (Per1) were upregulated as a consequence of Adnp haploinsufficiency and rescued by NAP PubMed:30106381

Appears in Networks:
Annotations
Gender
Male

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) increases p(HGNC:CDH17) View Subject | View Object

In male mice, the ATP-binding cassette subfamily F member 3 (Abcf3), bone morphogenetic protein 4 (Bmp4), cadherin 17 (Cdh17), lysine demethylase 5d (Kdm5d), Kruppel-like factor 1 (Klf1), and period circadian regulator 1 (Per1) were upregulated as a consequence of Adnp haploinsufficiency and rescued by NAP PubMed:30106381

Appears in Networks:
Annotations
Gender
Male

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) increases p(HGNC:KDM5D) View Subject | View Object

In male mice, the ATP-binding cassette subfamily F member 3 (Abcf3), bone morphogenetic protein 4 (Bmp4), cadherin 17 (Cdh17), lysine demethylase 5d (Kdm5d), Kruppel-like factor 1 (Klf1), and period circadian regulator 1 (Per1) were upregulated as a consequence of Adnp haploinsufficiency and rescued by NAP PubMed:30106381

Appears in Networks:
Annotations
Gender
Male

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) increases p(HGNC:KLF1) View Subject | View Object

In male mice, the ATP-binding cassette subfamily F member 3 (Abcf3), bone morphogenetic protein 4 (Bmp4), cadherin 17 (Cdh17), lysine demethylase 5d (Kdm5d), Kruppel-like factor 1 (Klf1), and period circadian regulator 1 (Per1) were upregulated as a consequence of Adnp haploinsufficiency and rescued by NAP PubMed:30106381

Appears in Networks:
Annotations
Gender
Male

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) increases p(HGNC:PER1) View Subject | View Object

In male mice, the ATP-binding cassette subfamily F member 3 (Abcf3), bone morphogenetic protein 4 (Bmp4), cadherin 17 (Cdh17), lysine demethylase 5d (Kdm5d), Kruppel-like factor 1 (Klf1), and period circadian regulator 1 (Per1) were upregulated as a consequence of Adnp haploinsufficiency and rescued by NAP PubMed:30106381

Appears in Networks:
Annotations
Gender
Male

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) increases p(HGNC:AKT1) View Subject | View Object

In female mice, Akt1 (above) and ionized calcium–binding adapter molecule 1 (Iba1), a marker of microglial activation that crosslinks actin (42), were markedly increased in the Adnp+/– mouse spleen and normalized by NAP treatment, suggesting a potential peripheral inflammation–linked biomarker PubMed:30106381

Appears in Networks:
Annotations
MeSH
Spleen
Gender
Female

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) increases p(HGNC:AIF1) View Subject | View Object

In female mice, Akt1 (above) and ionized calcium–binding adapter molecule 1 (Iba1), a marker of microglial activation that crosslinks actin (42), were markedly increased in the Adnp+/– mouse spleen and normalized by NAP treatment, suggesting a potential peripheral inflammation–linked biomarker PubMed:30106381

Appears in Networks:
Annotations
MeSH
Spleen
Gender
Female

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) decreases path(MESH:"Psychomotor Performance") View Subject | View Object

Importantly, negative geotaxis, a test used to investigate motor coordination and vestibular sensitivity, showed delayed development in Adnp+/– mice and normalization with NAP treatment (Figure 5D). PubMed:30106381

Appears in Networks:

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) decreases path(MESH:"Psychomotor Performance") View Subject | View Object

Specifically, the standing time and step cycle parameters indicated better performance in males, with significant impairments seen in Adnp+/– mice and amelioration with NAP treatment (Figure 6, C and D). PubMed:30106381

Appears in Networks:

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) increases path(MESH:"Vestibular Diseases") View Subject | View Object

Importantly, negative geotaxis, a test used to investigate motor coordination and vestibular sensitivity, showed delayed development in Adnp+/– mice and normalization with NAP treatment (Figure 5D). PubMed:30106381

Appears in Networks:

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) negativeCorrelation bp(MESH:"Body Height") View Subject | View Object

Initially, we checked for mouse length (potentially corresponding to stature in an ADNP syndrome child) and discovered shorter lengths as the Adnp+/– mice matured, starting earlier in males (Figure 6, A and B). PubMed:30106381

Appears in Networks:

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) negativeCorrelation path(MESH:"Weight Gain") View Subject | View Object

Supplemental Figure 12 shows marked delays in weight gain that were also sex dependent (apparent earlier in females). PubMed:30106381

Appears in Networks:

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) decreases path(MESH:"Motor Activity") View Subject | View Object

We then measured the latency to fall off an inverted cage lid (hanging wire) and found a highly significant impairment (decreased latency) in male Adnp+/– mice and a complete reversal with NAP treatment (Figure 7A). The females were not affected in this behavior, indicating sex differences in motor behavior and development in the haploinsufficient mice PubMed:30106381

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Annotations
Gender
Male

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) causesNoChange path(MESH:"Motor Activity") View Subject | View Object

We then measured the latency to fall off an inverted cage lid (hanging wire) and found a highly significant impairment (decreased latency) in male Adnp+/– mice and a complete reversal with NAP treatment (Figure 7A). The females were not affected in this behavior, indicating sex differences in motor behavior and development in the haploinsufficient mice PubMed:30106381

Appears in Networks:
Annotations
Gender
Female

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) decreases bp(MESH:"Hand Strength") View Subject | View Object

Likewise, Adnp+/– males, but not females, showed significantly reduced grip strength that was completely reversed by NAP treatment (Figure 7B). PubMed:30106381

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Gender
Male

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) causesNoChange bp(MESH:"Hand Strength") View Subject | View Object

Likewise, Adnp+/– males, but not females, showed significantly reduced grip strength that was completely reversed by NAP treatment (Figure 7B). PubMed:30106381

Appears in Networks:
Annotations
Gender
Female

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) decreases path(MESH:"Recognition (Psychology)") View Subject | View Object

Here, we found that object recognition memory was normalized following NAP treatment in Adnp+/– mice (Figure 7C) and that NAP treatment did not change the behavior of normal Adnp+/+ mice (Supplemental Figure 14). PubMed:30106381

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p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) increases path(MESH:"Autistic Disorder") View Subject | View Object

Interestingly, we detected sex-specific differences in object/ mouse preference in the female mice, which did not prefer mice over objects (potential autistic behavior). The indifference phenotype was ameliorated by NAP treatment (Figure 7D). PubMed:30106381

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Gender
Female

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) decreases path(MESH:Smell) View Subject | View Object

This was coupled with deficits in olfactory function in the Adnp+/– females, but not males, with the female mice exhibiting impaired odor discrimination that was also restored by NAP treatment (Figure 7E; for more detail, see Supplemental Figure 14). PubMed:30106381

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Gender
Female

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) causesNoChange path(MESH:Smell) View Subject | View Object

This was coupled with deficits in olfactory function in the Adnp+/– females, but not males, with the female mice exhibiting impaired odor discrimination that was also restored by NAP treatment (Figure 7E; for more detail, see Supplemental Figure 14). PubMed:30106381

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Gender
Male

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) decreases bp(GO:"social behavior") View Subject | View Object

As with object recognition memory, the deficient social memory of Adnp+/– mice (males and females) was normalized by NAP treatment (Figure 7F). PubMed:30106381

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Gender
Male
Gender
Female

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) decreases bp(GO:memory) View Subject | View Object

Adnp+/− mice compared with Adnp+/+ mice spent significantly shorter time periods in exploring the new objects, indicative of impaired memory, with intranasal NAP-CB treatment completely ameliorating this impairment (Fig. 2a, b). PubMed:30664622

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p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) decreases bp(GO:"social behavior") View Subject | View Object

While no effect was observed in the Adnp+/− male mouse social recognition, with preference to mice rather than objects (Fig. 2c), Adnp haploinsufficiency showed significantly inhibited social memory, which was completely ameliorated by NAP-CB treatment (Fig. 2d). PubMed:30664622

Appears in Networks:

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) decreases bp(GO:"social behavior") View Subject | View Object

Furthermore, in both sexes, Adnp haploinsufficiency showed significantly inhibited social memory, which was completely ameliorated by NAP treatment (Fig. 2d, males and Supplemental Fig. S2D, females). PubMed:30664622

Appears in Networks:
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Gender
Male
Gender
Female

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) increases path(MESH:"Motor Skills Disorders") View Subject | View Object

Given the fact that children carrying ADNP mutations (ADNP syndrome children) exhibit motor impairments, we also utilized the hanging wire test to measure potential impairments and amelioration by NAP. Results showed a significant impairment due to Adnp haploinsufficiency and amelioration by NAP treatment (Fig. 2f) PubMed:30664622

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p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) increases path(MESH:"Brain Injuries") View Subject | View Object

Here, Adnp haploinsufficiency in male mice has led to a significant increased MD in the hippocampus (Fig. 3a). PubMed:30664622

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MeSH
Hippocampus
Gender
Male

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) decreases a(MESH:"Nerve Fibers, Myelinated") View Subject | View Object

Furthermore, FA which is used to characterize the organization of white matter fibers, was shown to be significantly increased in Adnp+/− mice, thus implying of structural impairment. Importantly, this DTI observed structural impairment was ameliorated by NA-PCB treatment (Fig. 3b). PubMed:30664622

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MeSH
White Matter

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) causesNoChange p(HGNC:SLC17A7) View Subject | View Object

In females, hippocampal VGLUT1 was not affected by the Adnp genotype or NAP treatment (Supplemental Fig. S4A) PubMed:30664622

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Annotations
MeSH
Hippocampus
Gender
Female

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) decreases p(HGNC:SLC17A7) View Subject | View Object

In the cerebral cortex, female Adnp+/− mice exhibited significantly reduced VGLUT1 expression, with no effect for NAP (Supplemental Fig. S4B). PubMed:30664622

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MeSH
Cerebral Cortex
Gender
Female

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) decreases p(HGNC:SLC17A7) View Subject | View Object

At the protein level, a significant reduction in VGLUT1 was observed in both the hippocampus (Fig. 4c–e, immunohistochemistry, 4FG, densitometry) and cerebral cortex (Fig. 4h, i, densitometry). PubMed:30664622

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Annotations
MeSH
Cerebral Cortex
MeSH
Hippocampus

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) decreases r(HGNC:SLC17A7) View Subject | View Object

In males, complementing DTI data (Fig. 3) our results (Fig. 4a) revealed that in Adnp+/− mice, Slc17a7 (VGLUT1) gene expression was significantly decreased in the hippocampus, and completely reversed by NAP treatment (Fig. 4a), while in the cerebral cortex, NAP treatment resulted in a small, albeit significant decrease in the VGLUT1 transcript (Fig. 4b). PubMed:30664622

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MeSH
Hippocampus
Gender
Male

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) decreases r(HGNC:ADNP) View Subject | View Object

Originally, a reduction of 42% in the cortex, of 38% in cerebellum, and of 50% in hippocampus was observed in the levels of Adnp mRNA in Adnp+/− mice compared with Adnp intact mice PubMed:30008470

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MeSH
Cerebellum
MeSH
Cerebral Cortex
MeSH
Hippocampus

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) increases path(MESH:"Alcohol Drinking") View Subject | View Object

Importantly, Adnp+/− females showed higher alcohol consumption and preference, compared to female Adnp+/+ controls, whereas no difference was observed in males. PubMed:30008470

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Gender
Female

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) causesNoChange path(MESH:"Alcohol Drinking") View Subject | View Object

Importantly, Adnp+/− females showed higher alcohol consumption and preference, compared to female Adnp+/+ controls, whereas no difference was observed in males. PubMed:30008470

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Gender
Male

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) increases path(MESH:"Alcohol Drinking") View Subject | View Object

As shown in Fig. 3e, f, we found no difference between genotypes in saccharin or quinine intake, suggesting that the effect of Adnp deficiency is specific to alcohol, and does not apply to sweet reinforcers or bitter-taste solutions PubMed:30008470

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Gender
Female

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) increases path(MESH:"Alcohol Drinking") View Subject | View Object

As Fig. 4b depicts, over the first 2 weeks of drinking (no treatment or intranasal vehicle treatment) Adnp+/− females showed higher alcohol consumption as compared to their Adnp+/+ littermates, replicating our results above. PubMed:30008470

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Gender
Female

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) causesNoChange tloc(a(CHEBI:saccharin), fromLoc(GO:"extracellular space"), toLoc(GO:intracellular)) View Subject | View Object

As shown in Fig. 3e, f, we found no difference between genotypes in saccharin or quinine intake, suggesting that the effect of Adnp deficiency is specific to alcohol, and does not apply to sweet reinforcers or bitter-taste solutions PubMed:30008470

Appears in Networks:
Annotations
Gender
Female

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) causesNoChange tloc(a(CHEBI:quinine), fromLoc(GO:"extracellular space"), toLoc(GO:intracellular)) View Subject | View Object

As shown in Fig. 3e, f, we found no difference between genotypes in saccharin or quinine intake, suggesting that the effect of Adnp deficiency is specific to alcohol, and does not apply to sweet reinforcers or bitter-taste solutions PubMed:30008470

Appears in Networks:
Annotations
Gender
Female

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) increases p(HGNC:TFAP2B) View Subject | View Object

For example, one of these common genes was transcription factor AP2 beta (TFAP2b), which is downregulated by chronic alcohol exposure [41]. This gene had a 3.8-fold increased expression in female Adnp+/− mice, and in contrast, a five-fold decreased expression in male Adnp+/− mice, as compared to sex-matched Adnp+/+controls. PubMed:30008470

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Gender
Female

p(HGNC:ADNP, pmod(MESH:Haploinsufficiency)) decreases p(HGNC:TFAP2B) View Subject | View Object

For example, one of these common genes was transcription factor AP2 beta (TFAP2b), which is downregulated by chronic alcohol exposure [41]. This gene had a 3.8-fold increased expression in female Adnp+/− mice, and in contrast, a five-fold decreased expression in male Adnp+/− mice, as compared to sex-matched Adnp+/+controls. PubMed:30008470

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Gender
Male

About

BEL Commons is developed and maintained in an academic capacity by Charles Tapley Hoyt and Daniel Domingo-Fernández at the Fraunhofer SCAI Department of Bioinformatics with support from the IMI project, AETIONOMY. It is built on top of PyBEL, an open source project. Please feel free to contact us here to give us feedback or report any issues. Also, see our Publishing Notes and Data Protection information.

If you find BEL Commons useful in your work, please consider citing: Hoyt, C. T., Domingo-Fernández, D., & Hofmann-Apitius, M. (2018). BEL Commons: an environment for exploration and analysis of networks encoded in Biological Expression Language. Database, 2018(3), 1–11.