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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1990 3
1991 2
1992 2
1993 5
1994 2
1995 5
1996 7
1997 8
1998 10
1999 21
2000 23
2001 16
2002 13
2003 15
2004 23
2005 26
2006 20
2007 26
2008 24
2009 22
2010 22
2011 27
2012 27
2013 17
2014 22
2015 22
2016 20
2017 25
2018 20
2019 19
2020 21
2021 16
2022 21
2023 18
2024 7

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525 results

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Page 1
Persistent FosB expression limits recurrent seizure activity and provides neuroprotection in the dentate gyrus of APP mice.
Stephens GS, Park J, Eagle A, You J, Silva-Pérez M, Fu CH, Choi S, Romain CPS, Sugimoto C, Buffington SA, Zheng Y, Costa-Mattioli M, Liu Y, Robison AJ, Chin J. Stephens GS, et al. Prog Neurobiol. 2024 Apr 18:102612. doi: 10.1016/j.pneurobio.2024.102612. Online ahead of print. Prog Neurobiol. 2024. PMID: 38642602
Recurrent seizures lead to accumulation of the activity-dependent transcription factor FosB in hippocampal dentate granule cells in both mouse models of epilepsy and mouse models of Alzheimer's disease (AD), which is also associated with increased incidence of seizu …
Recurrent seizures lead to accumulation of the activity-dependent transcription factor FosB in hippocampal dentate granule cel …
ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel-Van der Aa syndrome autopsy case.
D'Incal C, Van Dijck A, Ibrahim J, De Man K, Bastini L, Konings A, Elinck E, Gozes L, Marusic Z, Anicic M, Vukovic J, Van der Aa N, Mateiu L, Vanden Berghe W, Kooy RF. D'Incal C, et al. Acta Neuropathol Commun. 2024 Apr 18;12(1):62. doi: 10.1186/s40478-024-01743-w. Acta Neuropathol Commun. 2024. PMID: 38637827 Free PMC article.
All patients exhibit heterozygous de novo nonsense or frameshift stop mutations in the Activity-Dependent Neuroprotective Protein (ADNP) gene, accounting for a prevalence of 0.2% of all autism cases worldwide. ...Protein-protein interacti …
All patients exhibit heterozygous de novo nonsense or frameshift stop mutations in the Activity-Dependent Neuroprotective …
Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel-Van der Aa syndrome.
D'Incal CP, Annear DJ, Elinck E, van der Smagt JJ, Alders M, Dingemans AJM, Mateiu L, de Vries BBA, Vanden Berghe W, Kooy RF. D'Incal CP, et al. Eur J Hum Genet. 2024 Feb 29. doi: 10.1038/s41431-024-01556-4. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38424297
.[-5-1_-4del] with transcriptome sequencing showing this deletion leads to skipping of exon 4. An N-terminal truncated protein could not be detected in transfection experiments with a mutant expression vector in HEK293T cells, strongly suggesting this is a first confirmed …
.[-5-1_-4del] with transcriptome sequencing showing this deletion leads to skipping of exon 4. An N-terminal truncated protein could …
Transient peripheral blood transcriptomic response to ketamine treatment in children with ADNP syndrome.
Grice ASB, Sloofman L, Levy T, Walker H, Ganesh G, de Los Santos MR, Armini P, Buxbaum JD, Kolevzon A, Kostic A, Breen MS. Grice ASB, et al. medRxiv [Preprint]. 2024 Jan 31:2024.01.29.24301949. doi: 10.1101/2024.01.29.24301949. medRxiv. 2024. PMID: 38352457 Free PMC article. Preprint.
Activity-dependent neuroprotective protein (ADNP) syndrome is a rare neurodevelopmental disorder resulting in intellectual disability, developmental delay and autism spectrum disorder (ASD) and is due to mutations in the ADNP gene. ...
Activity-dependent neuroprotective protein (ADNP) syndrome is a rare neurodevelopmental disorder resulting in in …
Longitudinal Genotype-Phenotype (Vineland Questionnaire) Characterization of 15 ADNP Syndrome Cases Highlights Mutated Protein Length and Structural Characteristics Correlation with Communicative Abilities Accentuated in Males.
Levine J, Lobyntseva A, Shazman S, Hakim F, Gozes I. Levine J, et al. J Mol Neurosci. 2024 Jan 29;74(1):15. doi: 10.1007/s12031-024-02189-4. J Mol Neurosci. 2024. PMID: 38282129
Activity-dependent neuroprotective protein (ADNP) is essential for neurodevelopment and de novo mutations in ADNP cause the ADNP syndrome. ...A significant correlation was noted between mutated protein length and communication, implying a high i …
Activity-dependent neuroprotective protein (ADNP) is essential for neurodevelopment and de novo mutations in ADN …
Extended phenotypic characterization of a novel Helsmoortel-van der Aa syndrome case series.
Pascolini G, Di Zenzo G, Panebianco A, Didona B, Gozes I. Pascolini G, et al. Am J Med Genet A. 2024 May;194(5):e63539. doi: 10.1002/ajmg.a.63539. Epub 2024 Jan 10. Am J Med Genet A. 2024. PMID: 38204290
The neurodevelopmental disorder known as Helsmoortel-van der Aa syndrome (HVDAS, MIM#616580) or ADNP syndrome (Orphanet, ORPHA:404448) is a multiple congenital anomaly (MCA) condition, reported as a syndrome in 2014, associated with deleterious variants in the ADNP gene (activ …
The neurodevelopmental disorder known as Helsmoortel-van der Aa syndrome (HVDAS, MIM#616580) or ADNP syndrome (Orphanet, ORPHA:404448) is a …
Tet1 deficiency exacerbates oxidative stress in acute kidney injury by regulating superoxide dismutase.
Fan Y, Yuan Y, Xiong M, Jin M, Zhang D, Yang D, Liu C, Petersen RB, Huang K, Peng A, Zheng L. Fan Y, et al. Theranostics. 2023 Sep 25;13(15):5348-5364. doi: 10.7150/thno.87416. eCollection 2023. Theranostics. 2023. PMID: 37908721 Free PMC article.
Mechanistically, Tet1 reduced the 5mC levels in an enzymatic activity-dependent manner on the promoters of Sod1 and Sod2 to promote their expression, thus lowering injury-induced excessive ROS and reducing I/R or UUO injury. ...
Mechanistically, Tet1 reduced the 5mC levels in an enzymatic activity-dependent manner on the promoters of Sod1 and Sod2 to pr …
The PKG Inhibitor CN238 Affords Functional Protection of Photoreceptors and Ganglion Cells against Retinal Degeneration.
Tolone A, Haq W, Fachinger A, Roy A, Kesh S, Rentsch A, Wucherpfennig S, Zhu Y, Groten J, Schwede F, Tomar T, Herberg FW, Nache V, Paquet-Durand F. Tolone A, et al. Int J Mol Sci. 2023 Oct 17;24(20):15277. doi: 10.3390/ijms242015277. Int J Mol Sci. 2023. PMID: 37894958 Free PMC article.
Previous research has shown that inhibition of cGMP-dependent protein kinase G (PKG) can reduce photoreceptor loss in two different RD animal models. ...Surprisingly, in explanted retinae, CN238 also protected retinal ganglion cells from axotomy-induced retrograde degenera …
Previous research has shown that inhibition of cGMP-dependent protein kinase G (PKG) can reduce photoreceptor loss in two different R …
Neuroprotective effect of the PACAP-ADNP axis on SOD1G93A mutant motor neuron death induced by trophic factors deprivation.
Magrì B, D'Amico AG, Maugeri G, Morello G, La Cognata V, Saccone S, Federico C, Cavallaro S, D'Agata V. Magrì B, et al. Neuropeptides. 2023 Dec;102:102386. doi: 10.1016/j.npep.2023.102386. Epub 2023 Oct 11. Neuropeptides. 2023. PMID: 37856900
Some of its effects are mediated by the stimulation of an intracellular factor known as activity-dependent protein (ADNP). The role of PACAP-ADNP axis on mutated SOD1 motor neuron degeneration has not been explored, yet. ...
Some of its effects are mediated by the stimulation of an intracellular factor known as activity-dependent protein (ADN …
525 results