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Gestational 1-nitropyrene exposure causes anxiety-like behavior partially by altering hippocampal epigenetic reprogramming of synaptic plasticity in male adult offspring.
Wang B, Zhao T, Chen XX, Zhu YY, Lu X, Qian QH, Chen HR, Meng XH, Wang H, Wei W, Xu DX. Wang B, et al. J Hazard Mater. 2023 Jul 5;453:131427. doi: 10.1016/j.jhazmat.2023.131427. Epub 2023 Apr 15. J Hazard Mater. 2023. PMID: 37080034
Nrg1 and Erbb4, two gephyrin-related genes, were reduced in 1-NP-exposed fetuses. Accordingly, 5hmC contents in two CpG sites (32008909 and 32009239) of Nrg1 gene and three CpG sites (69107743, 69107866 and 69107899) of Erbb4 gene were decreased in 1-NP-exposed fetuses. .. …
Nrg1 and Erbb4, two gephyrin-related genes, were reduced in 1-NP-exposed fetuses. Accordingly, 5hmC contents in two CpG sites (320089 …
Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABAA receptor α2 subunit.
Hines DJ, Contreras A, Garcia B, Barker JS, Boren AJ, Moufawad El Achkar C, Moss SJ, Hines RM. Hines DJ, et al. Mol Psychiatry. 2022 Mar;27(3):1729-1741. doi: 10.1038/s41380-022-01468-z. Epub 2022 Feb 15. Mol Psychiatry. 2022. PMID: 35169261 Free PMC article.
We mutate the Cb binding motif within the large intracellular loop of alpha2 replacing it with the binding motif for gephyrin from the alpha1 subunit (Gabra2-1). The Gabra2-1 mutation causes a strong downregulation of Cb expression, particularly at cholecystokinin basket c …
We mutate the Cb binding motif within the large intracellular loop of alpha2 replacing it with the binding motif for gephyrin from th …
Chronic Desipramine Reverses Deficits in Cell Activity, Norepinephrine Innervation, and Anxiety-Depression Phenotypes in Fluoxetine-Resistant cF1ko Mice.
Vahid-Ansari F, Zahrai A, Daigle M, Albert PR. Vahid-Ansari F, et al. J Neurosci. 2024 Jan 17;44(3):e1147232023. doi: 10.1523/JNEUROSCI.1147-23.2023. J Neurosci. 2024. PMID: 38050173 Free PMC article.
In cF1ko mice, widespread reductions were seen in NE axons, varicosities, and especially 30-60% reductions in NE synaptic and triadic contacts, particularly to inhibitory gephyrin-positive sites. DES treatment also reversed these reductions in NE innervation. ...
In cF1ko mice, widespread reductions were seen in NE axons, varicosities, and especially 30-60% reductions in NE synaptic and triadic contac …
Novel pathogenic variant in a mild case of type B molybdenum cofactor deficiency: case report and literature review.
Kinsinger M, Ivanisevic J, Mithal DS. Kinsinger M, et al. BMC Med Genomics. 2024 Dec 18;17(1):292. doi: 10.1186/s12920-024-02027-x. BMC Med Genomics. 2024. PMID: 39695700 Free PMC article. Review.
Three types of MoCD have been described based on the effected gene along the MoCo synthesis pathway: type A (MOCS1); type B (MOCS2 or MOCS3) and type C (GPHN). The MOCS2 gene is bicistronic, encoding the small (MOCS2A) and large (MOCS2B) subunits with an overlapping coding …
Three types of MoCD have been described based on the effected gene along the MoCo synthesis pathway: type A (MOCS1); type B (MOCS2 or MOCS3) …
Loss of Glutathione-S-Transferase Theta 2 (GSTT2) Modulates the Tumor Microenvironment and Response to BCG Immunotherapy in a Murine Orthotopic Model of Bladder Cancer.
Patwardhan MV, Kane TQ, Chiong E, Rahmat JN, Mahendran R. Patwardhan MV, et al. Int J Mol Sci. 2024 Dec 11;25(24):13296. doi: 10.3390/ijms252413296. Int J Mol Sci. 2024. PMID: 39769061 Free PMC article.
An 11-gene signature (Hmga2, Peak 1, Kras, Slc2a1, Ankfn1, Ahnak, Cmss1, Fmo5, Gphn, Plec, Gstt2), derived from the scRNA-seq analysis predicted response in NMIBC patients (The Cancer Genome Atlas (TCGA) database). ...
An 11-gene signature (Hmga2, Peak 1, Kras, Slc2a1, Ankfn1, Ahnak, Cmss1, Fmo5, Gphn, Plec, Gstt2), derived from the scRNA-seq analysi …
A novel de novo hemizygous ARHGEF9 mutation associated with severe intellectual disability and epilepsy: a case report.
Qiu T, Dai Q, Wang Q. Qiu T, et al. J Int Med Res. 2021 Nov;49(11):3000605211058372. doi: 10.1177/03000605211058372. J Int Med Res. 2021. PMID: 34851771 Free PMC article.
ARHGEF9 encodes collybistin, a brain-specific guanosine diphosphate-guanosine-5'-triphosphate exchange factor that plays an important role in clustering of gephyrin and gamma-aminobutyric acid type A receptors in the postsynaptic membrane. Overwhelming evidence suggests th …
ARHGEF9 encodes collybistin, a brain-specific guanosine diphosphate-guanosine-5'-triphosphate exchange factor that plays an important role i …
Potassium Voltage-Gated Channel Subfamily H Member 1 (KCNH1) Missense Mutation Causing Epileptic Encephalopathy And Autistic Behaviour.
Chand P, Sulaiman A, Kirmani S. Chand P, et al. J Pak Med Assoc. 2023 Sep;73(9):1894-1896. doi: 10.47391/JPMA.6766. J Pak Med Assoc. 2023. PMID: 37817707 Free article.
This mutation causes problems with protein modelling and has yet to be documented in any genetic databases around the world. This mutation was overlapped with GPHN gene, c.828+1G>A, in our patient, causing GPHN related spectrum disorder (autosomal dominant) along …
This mutation causes problems with protein modelling and has yet to be documented in any genetic databases around the world. This mutation w …
Optical mapping reveals a higher level of large-scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease.
Hasan MM, Craddock J, Gong T, Lyons RJ, Stevanovski I, Chintalaphani SR, Deveson IW, Jaratlerdsiri W, Kumar KR, Hayes VM. Hasan MM, et al. J Pathol. 2026 Sep;270(1):83-97. doi: 10.1002/path.70084. Epub 2026 Jun 9. J Pathol. 2026. PMID: 42261605 Free PMC article.
In the absence of potentially pathogenic de novo or maternally inherited structural variants, the proband presented with large paternally inherited aberrations impacting gene candidates CASC15, CBFA2T3, GPHN, H3F3A, SDK1, and SPAG16, with advanced global hypomethylation. H …
In the absence of potentially pathogenic de novo or maternally inherited structural variants, the proband presented with large paternally in …