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Page 1
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Zhou X, Feliciano P, Shu C, Wang T, Astrovskaya I, Hall JB, Obiajulu JU, Wright JR, Murali SC, Xu SX, Brueggeman L, Thomas TR, Marchenko O, Fleisch C, Barns SD, Snyder LG, Han B, Chang TS, Turner TN, Harvey WT, Nishida A, O'Roak BJ, Geschwind DH; SPARK Consortium; Michaelson JJ, Volfovsky N, Eichler EE, Shen Y, Chung WK. Zhou X, et al. Nat Genet. 2022 Sep;54(9):1305-1319. doi: 10.1038/s41588-022-01148-2. Epub 2022 Aug 18. Nat Genet. 2022. PMID: 35982159 Free PMC article.
Autistic individuals with LoF variants in the four moderate-risk genes (NAV3, ITSN1, SCAF1 and HNRNPUL2; n = 95) have less cognitive impairment than 129 autistic individuals with LoF variants in highly penetrant genes (CHD8, SCN2A, ADNP, FOXP1 and SHANK3) (59% vs 88%, P = …
Autistic individuals with LoF variants in the four moderate-risk genes (NAV3, ITSN1, SCAF1 and HNRNPUL2; n = 95) have less cognitive impairm …
ADNP promotes neural differentiation by modulating Wnt/beta-catenin signaling.
Sun X, Peng X, Cao Y, Zhou Y, Sun Y. Sun X, et al. Nat Commun. 2020 Jun 12;11(1):2984. doi: 10.1038/s41467-020-16799-0. Nat Commun. 2020. PMID: 32533114 Free PMC article.
ADNP (Activity Dependent Neuroprotective Protein) is a neuroprotective protein whose aberrant expression has been frequently linked to neural developmental disorders, including the Helsmoortel-Van der Aa syndrome (also called the ADNP syn …
ADNP (Activity Dependent Neuroprotective Protein) is a neuroprotective protein whose aberrant expression …
Epigenetic regulation of autophagy-related genes: Implications for neurodevelopmental disorders.
Lewerissa EI, Nadif Kasri N, Linda K. Lewerissa EI, et al. Autophagy. 2024 Jan;20(1):15-28. doi: 10.1080/15548627.2023.2250217. Epub 2023 Sep 6. Autophagy. 2024. PMID: 37674294 Free PMC article. Review.
Thereby, we want to highlight autophagy as a candidate key hub mechanism in NDD-related chromatinopathies.Abbreviations: ADNP: activity dependent neuroprotector homeobox; ASD: autism spectrum disorder; ATG: AutTophaGy related; CpG: cytosine-guan …
Thereby, we want to highlight autophagy as a candidate key hub mechanism in NDD-related chromatinopathies.Abbreviations: ADNP: act …
Pleiotropy of autism-associated chromatin regulators.
Lasser M, Sun N, Xu Y, Wang S, Drake S, Law K, Gonzalez S, Wang B, Drury V, Castillo O, Zaltsman Y, Dea J, Bader E, McCluskey KE, State MW, Willsey AJ, Willsey HR. Lasser M, et al. Development. 2023 Jul 15;150(14):dev201515. doi: 10.1242/dev.201515. Epub 2023 Jul 18. Development. 2023. PMID: 37366052 Free PMC article.
As many chromatin regulators, including the ASD risk genes ADNP and CHD3, are known to directly regulate both tubulins and histones, we studied the five chromatin regulators most strongly associated with ASD (ADNP, CHD8, CHD2, POGZ and KMT5B) specifically with respe …
As many chromatin regulators, including the ASD risk genes ADNP and CHD3, are known to directly regulate both tubulins and histones, …
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.
Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, Bernier R, Gozes I, Eichler EE, Romano C, Lindstrand A, Nordgren A; ADNP Consortium; Kvarnung M, Kleefstra T, de Vries BBA, Küry S, Rosenfeld JA, Meuwissen ME, Vandeweyer G, Kooy RF. Van Dijck A, et al. Biol Psychiatry. 2019 Feb 15;85(4):287-297. doi: 10.1016/j.biopsych.2018.02.1173. Epub 2018 Mar 15. Biol Psychiatry. 2019. PMID: 29724491 Free PMC article.
BACKGROUND: In genome-wide screening studies for de novo mutations underlying autism and intellectual disability, mutations in the ADNP gene are consistently reported among the most frequent. ADNP mutations have been identified in children with autism spectrum disor …
BACKGROUND: In genome-wide screening studies for de novo mutations underlying autism and intellectual disability, mutations in the ADNP …
Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism.
D'Incal CP, Van Rossem KE, De Man K, Konings A, Van Dijck A, Rizzuti L, Vitriolo A, Testa G, Gozes I, Vanden Berghe W, Kooy RF. D'Incal CP, et al. Clin Epigenetics. 2023 Mar 21;15(1):45. doi: 10.1186/s13148-023-01450-8. Clin Epigenetics. 2023. PMID: 36945042 Free PMC article. Review.
In this review, we summarize available information on one of the most frequently mutated genes in syndromic autism the Activity-Dependent Neuroprotective Protein (ADNP). RESULTS: Heterozygous and predicted loss-of-function ADNP mutations …
In this review, we summarize available information on one of the most frequently mutated genes in syndromic autism the Activity-De …
ZMYM2 controls human transposable element transcription through distinct co-regulatory complexes.
Owen DJ, Aguilar-Martinez E, Ji Z, Li Y, Sharrocks AD. Owen DJ, et al. Elife. 2023 Nov 7;12:RP86669. doi: 10.7554/eLife.86669. Elife. 2023. PMID: 37934570 Free PMC article.
We also identify new functional and physical interactions with ADNP and TRIM28/KAP1. The ZMYM2-TRIM28 complex forms in a SUMO-dependent manner and is associated with repressive chromatin. ...We find that different types of ZMYM2 binding complex associate with and regulate …
We also identify new functional and physical interactions with ADNP and TRIM28/KAP1. The ZMYM2-TRIM28 complex forms in a SUMO-depende …
Symptomatic, Genetic, and Mechanistic Overlaps between Autism and Alzheimer's Disease.
Nadeem MS, Hosawi S, Alshehri S, Ghoneim MM, Imam SS, Murtaza BN, Kazmi I. Nadeem MS, et al. Biomolecules. 2021 Nov 4;11(11):1635. doi: 10.3390/biom11111635. Biomolecules. 2021. PMID: 34827633 Free PMC article. Review.
A number of genes and proteins linked with both disorders have been tabulated, including MECP2, ADNP, SCN2A, NLGN, SHANK, PTEN, RELN, and FMR1. Theories about the role of neuron development, processing, connectivity, and levels of neurotransmitters in both disorders have b …
A number of genes and proteins linked with both disorders have been tabulated, including MECP2, ADNP, SCN2A, NLGN, SHANK, PTEN, RELN, …
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 …
The neurodevelopmental disorder known as Helsmoortel-van der Aa syndrome (HVDAS, MIM#616580) or ADNP syndrome (Orphanet, ORPHA:404448 …
Tracing the invisible mutant ADNP protein in Helsmoortel-Van der Aa syndrome patients.
D'Incal CP, Cappuyns E, Choukri K, De Man K, Szrama K, Konings A, Bastini L, Van Meel K, Buys A, Gabriele M, Rizzuti L, Vitriolo A, Testa G, Mohn F, Bühler M, Van der Aa N, Van Dijck A, Kooy RF, Berghe WV. D'Incal CP, et al. Sci Rep. 2024 Jun 26;14(1):14710. doi: 10.1038/s41598-024-65608-x. Sci Rep. 2024. PMID: 38926592 Free PMC article.
Detection of ADNP by means of western blotting has been ambiguous with reported antibodies resulting in non-specific bands without unique ADNP signal. ...Furthermore, we were also able to visualize endogenous ADNP with our C-terminal antibody panel in heteroz …
Detection of ADNP by means of western blotting has been ambiguous with reported antibodies resulting in non-specific bands without un …
84 results