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Items: 1 to 20 of 96

1.
Clinical impact and in vitro characterization of ADNP variants in pediatric patients
Chuanhui Ge, Yuxin Tian, Chunchun Hu, Lianni Mei, Dongyun Li, Ping Dong, Ying Zhang, Huiping Li, Daijing Sun, Wenzhu Peng, Xiu Xu, Yan Jiang, Qiong Xu
Mol Autism. 2024; 15: 5. Published online 2024 Jan 22. doi: 10.1186/s13229-024-00584-7
PMCID:
PMC10804707
ArticlePDF–1.3M
2.
ADNP is associated with immune infiltration and radiosensitivity in hepatocellular carcinoma for predicting the prognosis
Xuan Wang, Honghua Peng, Ganghua Zhang, Zeyuan Li, Zhangyan Du, Bin Peng, Peiguo Cao
BMC Med Genomics. 2023; 16: 178. Published online 2023 Jul 31. doi: 10.1186/s12920-023-01592-x
PMCID:
PMC10391866
ArticlePDF–4.0M
3.
Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism
Claudio Peter D’Incal, Kirsten Esther Van Rossem, Kevin De Man, Anthony Konings, Anke Van Dijck, Ludovico Rizzuti, Alessandro Vitriolo, Giuseppe Testa, Illana Gozes, Wim Vanden Berghe, R. Frank Kooy
Clin Epigenetics. 2023; 15: 45. Published online 2023 Mar 21. doi: 10.1186/s13148-023-01450-8
PMCID:
PMC10031977
ArticlePDF–5.1M
4.
Activity-Dependent Neuroprotective Protein (ADNP): An Overview of Its Role in the Eye
Grazia Maugeri, Agata Grazia D’Amico, Benedetta Magrì, Giuseppe Musumeci, Velia D’Agata
Int J Mol Sci. 2022 Nov; 23(21): 13654. Published online 2022 Nov 7. doi: 10.3390/ijms232113654
PMCID:
PMC9658893
ArticlePDF–1.4M
5.
Distinct Impairments Characterizing Different ADNP Mutants Reveal Aberrant Cytoplasmic-Nuclear Crosstalk
Maram Ganaiem, Gidon Karmon, Yanina Ivashko-Pachima, Illana Gozes
Cells. 2022 Oct; 11(19): 2994. Published online 2022 Sep 26. doi: 10.3390/cells11192994
PMCID:
PMC9563912
ArticlePDF–3.7M
6.
Discovery of autism/intellectual disability somatic mutations in Alzheimer's brains: mutated ADNP cytoskeletal impairments and repair as a case study
Yanina Ivashko-Pachima, Adva Hadar, Iris Grigg, Vlasta Korenková, Oxana Kapitansky, Gidon Karmon, Michael Gershovits, C. Laura Sayas, R. Frank Kooy, Johannes Attems, David Gurwitz, Illana Gozes
Mol Psychiatry. 2021; 26(5): 1619–1633. Published online 2019 Oct 30. doi: 10.1038/s41380-019-0563-5
PMCID:
PMC8159740
ArticlePDF–5.0M
7.
Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype
Michael S. Breen, Paras Garg, Lara Tang, Danielle Mendonca, Tess Levy, Mafalda Barbosa, Anne B. Arnett, Evangeline Kurtz-Nelson, Emanuele Agolini, Agatino Battaglia, Andreas G. Chiocchetti, Christine M. Freitag, Alicia Garcia-Alcon, Paola Grammatico, Irva Hertz-Picciotto, Yunin Ludena-Rodriguez, Carmen Moreno, Antonio Novelli, Mara Parellada, Giulia Pascolini, Flora Tassone, Dorothy E. Grice, Daniele Di Marino, Raphael A. Bernier, Alexander Kolevzon, Andrew J. Sharp, Joseph D. Buxbaum, Paige M. Siper, Silvia De Rubeis
Am J Hum Genet. 2020 Sep 3; 107(3): 555–563. Published online 2020 Aug 5. doi: 10.1016/j.ajhg.2020.07.003
PMCID:
PMC7477006
ArticlePDF–649K
8.
Integrative proteogenomic analyses of human tumours identifies ADNP as a novel oncogenic mediator of cell cycle progression in high-grade serous ovarian cancer with poor prognosis
Kubra Karagoz, Gaurav A. Mehta, Christen A. Khella, Pooja Khanna, Michael L. Gatza
EBioMedicine. 2019 Dec; 50: 191–202. Published online 2019 Nov 22. doi: 10.1016/j.ebiom.2019.11.009
PMCID:
PMC6921307
ArticlePDF–3.4M
9.
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
Eric G. Bend, Erfan Aref-Eshghi, David B. Everman, R. Curtis Rogers, Sara S. Cathey, Eloise J. Prijoles, Michael J. Lyons, Heather Davis, Katie Clarkson, Karen W. Gripp, Dong Li, Elizabeth Bhoj, Elaine Zackai, Paul Mark, Hakon Hakonarson, Laurie A. Demmer, Michael A. Levy, Jennifer Kerkhof, Alan Stuart, David Rodenhiser, Michael J. Friez, Roger E. Stevenson, Charles E. Schwartz, Bekim Sadikovic
Clin Epigenetics. 2019; 11: 64. Published online 2019 Apr 27. doi: 10.1186/s13148-019-0658-5
PMCID:
PMC6487024
ArticlePDF–2.1M
10.
The Autism Spectrum Phenotype in ADNP Syndrome
Anne B. Arnett, Candace L. Rhoads, Kendra Hoekzema, Tychele N. Turner, Jennifer Gerdts, Arianne S. Wallace, Sandra Bedrosian-Sermone, Evan E. Eichler, Raphael A. Bernier
Autism Res. Author manuscript; available in PMC 2019 Sep 1.
Published in final edited form as: Autism Res. 2018 Sep; 11(9): 1300–1310. Published online 2018 Aug 14. doi: 10.1002/aur.1980
PMCID:
PMC6203613
ArticlePDF–817K
11.
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
Anke Van Dijck, Anneke T. Vulto-van Silfhout, Elisa Cappuyns, Ilse M. van der Werf, Grazia M. Mancini, Andreas Tzschach, Raphael Bernier, Illana Gozes, Evan E. Eichler, Corrado Romano, Anna Lindstrand, Ann Nordgren, ADNP Consortium, Malin Kvarnung, Tjitske Kleefstra, Bert B.A. de Vries, Sébastien Küry, Jill A. Rosenfeld, Marije E. Meuwissen, Geert Vandeweyer, R. Frank Kooy
Biol Psychiatry. Author manuscript; available in PMC 2019 Aug 15.
Published in final edited form as: Biol Psychiatry. 2019 Feb 15; 85(4): 287–297. Published online 2018 Mar 15. doi: 10.1016/j.biopsych.2018.02.1173
PMCID:
PMC6139063
ArticlePDF–571K
12.
Mutations in ADNP affect expression and subcellular localization of the protein
Elisa Cappuyns, Jolien Huyghebaert, Geert Vandeweyer, R. Frank Kooy
Cell Cycle. 2018; 17(9): 1068–1075. Published online 2018 Jul 17. doi: 10.1080/15384101.2018.1471313
PMCID:
PMC6110598
ArticlePDF–1.5M
13.
Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children
I Gozes, A Van Dijck, G Hacohen-Kleiman, I Grigg, G Karmon, E Giladi, M Eger, Y Gabet, M Pasmanik-Chor, E Cappuyns, O Elpeleg, R F Kooy, S Bedrosian-Sermone
Transl Psychiatry. 2017 Feb; 7(2): e1043. Published online 2017 Feb 21. doi: 10.1038/tp.2017.27
Correction in:
Transl Psychiatry. 2017 Jul; 7(7): e1166.
PMCID:
PMC5438031
ArticlePDF–3.1M
14.
The Transcriptional Regulator ADNP Links the BAF (SWI/SNF) Complexes With Autism
Geert Vandeweyer, Céline Helsmoortel, Anke Van Dijck, Anneke T. Vulto-van Silfhout, Bradley P. Coe, Raphael Bernier, Jennifer Gerdts, Liesbeth Rooms, Madhura Bakshi, Jenneke van den Ende, Meredith Wilson, Ann Nordgren, Laura G. Hendon, Omar A. Abdulrahman, Corrado Romano, Bert B.A. de Vries, Tjitske Kleefstra, Evan E. Eichler, Nathalie Van der Aa, R. Frank Kooy
Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2015 Mar 1.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2014 Sep; 166(3): 315–326. Published online 2014 Aug 28. doi: 10.1002/ajmg.c.31413
PMCID:
PMC4195434
ArticlePDF–433K
15.
A SWI/SNF related autism syndrome caused by de novo mutations in ADNP
Céline Helsmoortel, Anneke T. Vulto-van Silfhout, Bradley P. Coe, Geert Vandeweyer, Liesbeth Rooms, Jenneke van den Ende, Janneke H.M. Schuurs-Hoeijmakers, Carlo L. Marcelis, Marjolein H. Willemsen, Lisenka E.L.M. Vissers, Helger G. Yntema, Madhura Bakshi, Meredith Wilson, Kali T Witherspoon, Helena Malmgren, Ann Nordgren, Göran Annerén, Marco Fichera, Paolo Bosco, Corrado Romano, Bert B.A. de Vries, Tjitske Kleefstra, R. Frank Kooy, Evan E. Eichler, Nathalie Van der Aa
Nat Genet. Author manuscript; available in PMC 2014 Oct 1.
Published in final edited form as: Nat Genet. 2014 Apr; 46(4): 380–384. Published online 2014 Feb 16. doi: 10.1038/ng.2899
PMCID:
PMC3990853
ArticlePDF–417K
16.
Expression of Activity-Dependent Neuroprotective Protein in the Immune System: Possible Functions and Relevance to Multiple Sclerosis
Manjit Braitch, Kiyokazu Kawabe, Mukanthu Nyirenda, Lucie Jean Gilles, R. Adrian Robins, Bruno Gran, Sean Murphy, Louise Showe, Cris S. Constantinescu
Neuroimmunomodulation. 2010 Jan; 17(2): 120–125. Published online 2009 Nov 17. doi: 10.1159/000258695
PMCID:
PMC3701887
ArticlePDF–132K
17.
Cellular and animal models of skin alterations in the autism-related ADNP syndrome
Pilar Mollinedo, Oxana Kapitansky, Domingo Gonzalez-Lamuño, Adi Zaslavsky, Pedro Real, Illana Gozes, Alberto Gandarillas, Jose L. Fernandez-Luna
Sci Rep. 2019; 9: 736. Published online 2019 Jan 24. doi: 10.1038/s41598-018-36859-2
PMCID:
PMC6346103
ArticlePDF–1.7M
18.
Activity-dependent neuroprotective protein (ADNP) exhibits striking sexual dichotomy impacting on autistic and Alzheimer's pathologies
A Malishkevich, N Amram, G Hacohen-Kleiman, I Magen, E Giladi, I Gozes
Transl Psychiatry. 2015 Feb; 5(2): e501. Published online 2015 Feb 3. doi: 10.1038/tp.2014.138
PMCID:
PMC4445743
ArticlePDF–1.2M
19.
Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions
Emily Neuhaus, Hannah Rea, Elizabeth Jones, Hannah Benavidez, Conor Miles, Alana Whiting, Margaret Johansson, Curtis Eayrs, Evangeline C. Kurtz-Nelson, Rachel Earl, Raphael A. Bernier, Evan E. Eichler
J Neurodev Disord. 2024; 16: 15. Published online 2024 Apr 15. doi: 10.1186/s11689-024-09532-1
PMCID:
PMC11017562
ArticlePDF–1.2M
20.
Single Cell ADNP Predictive of Human Muscle Disorders: Mouse Knockdown Results in Muscle Wasting
Oxana Kapitansky, Gidon Karmon, Shlomo Sragovich, Adva Hadar, Meishar Shahoha, Iman Jaljuli, Lior Bikovski, Eliezer Giladi, Robert Palovics, Tal Iram, Illana Gozes
Cells. 2020 Oct; 9(10): 2320. Published online 2020 Oct 19. doi: 10.3390/cells9102320
PMCID:
PMC7603382
ArticlePDF–3.9M

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