Results 21 to 30 of about 2,066 (126)

ADNP promotes neural differentiation by modulating Wnt/β-catenin signaling

Nature Communications, 2020
ADNP has been connected to neural developmental disorders. Here, the authors uncover a role for ADNP in neural induction and differentiation via β-Catenin stabilization, with ADNP disruption in zebrafish leading to defective neurogenesis and decreased ...
Xiaoyun Sun, Xixia Peng, Yuqin Cao, Yan Zhou, Yuhua Sun   +4 more
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GENYOi004-A: An induced pluripotent stem cells (iPSCs) line generated from a patient with autism-related ADNP syndrome carrying a pTyr719* mutation

Stem Cell Research, 2019
ADNP syndrome is an intellectual disability associated with Autism spectrum disorder caused by mutations in ADNP. We generated an iPSC line from an ADNP syndrome pediatric patient harboring the mutation p.Trp719* (GENYOi004-A).
Rosa Montes, Pilar Mollinedo, Sonia Perales, Domingo Gonzalez-Lamuño, Veronica Ramos-Mejía, Jose L. Fernandez-Luna, Pedro J. Real   +6 more
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Helsmoortel-van der Aa syndrome syndrome in a patient with epilepsy, developmental delay, intellectual disability, and autism spectrum disorder

Эпилепсия и пароксизмальные состояния, 2020
Autism spectrum disorders (ASDs) are a group of complex disintegrative disorders of mental development, characterized by a lack of ability to social interaction, communication, stereotyped behavior, leading to social maladaptation.
T. V. Kozhanova, S. S. Zhilina, T. I. Mescheryakova, E. G. Luk`yanova, K. V. Osipova, S. O. Ayvazyan, A. G. Prityko   +6 more
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Helsmoortel–van der Aa syndrome in a Chinese pediatric patient due to ADNP nonsense mutation: A case report

Frontiers in Pediatrics, 2023
BackgroundHelsmoortel–van der Aa syndrome, also known as ADNP syndrome, is a condition that causes developmental delay, language impairment, autism spectrum, and variable extraneurologic features.
Li-juan Chen, Zhong-min You, Wen-hong Chen, Si Yang, Chun-chen Feng, Hai-yong Wang, Ting Wang, Yuan-yuan Zhu   +7 more
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HP1 recruits activity-dependent neuroprotective protein to H3K9me3 marked pericentromeric heterochromatin for silencing of major satellite repeats. [PDF]

PLoS ONE, 2011
H3 lysine 9 trimethylation (H3K9me3) is a histone posttranslational modification (PTM) that has emerged as hallmark of pericentromeric heterochromatin.
Kerstin Mosch, Henriette Franz, Szabolcs Soeroes, Prim B Singh, Wolfgang Fischle   +4 more
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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

EBioMedicine, 2019
Background: Despite toxic side effects and limited durable response, the current standard-of-care treatment for high grade serous ovarian cancer (HGSOC) remains platinum/taxane-based chemotherapy.
Kubra Karagoz, Gaurav A. Mehta, Christen A. Khella, Pooja Khanna, Michael L. Gatza   +4 more
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Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

Clinical Epigenetics, 2019
Background ADNP syndrome is a rare Mendelian disorder characterized by global developmental delay, intellectual disability, and autism. It is caused by truncating mutations in ADNP, which is involved in chromatin regulation.
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   +23 more
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VIP/PACAP-Based Drug Development: The ADNP/NAP-Derived Mirror Peptides SKIP and D-SKIP Exhibit Distinctive in vivo and in silico Effects

Frontiers in Cellular Neuroscience, 2020
Activity-dependent neuroprotective protein (ADNP) was discovered and first characterized in the laboratory of Prof. Illana Gozes to be regulated by vasoactive intestinal peptide (VIP), and pituitary adenylate cyclase-activating peptide (PACAP) toward ...
Shlomo Sragovich, Noy Amram, Adva Yeheskel, Illana Gozes   +3 more
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Alterations in Activity-Dependent Neuroprotective Protein in Sporadic and Experimental Parkinson’s Disease

Journal of Parkinson’s Disease, 2016
Background: Activity-dependent neuroprotective protein (ADNP) is essential for brain formation and neuronal survival. It is possible that intracellular alpha-synuclein ( α -syn) inclusions may be due to, or may cause, down-regulation of ADNP expression ...
Yaping Chu, Gerardo A. Morfini, Jeffrey H. Kordower   +2 more
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DYRK1A and Activity-Dependent Neuroprotective Protein Comparative Diagnosis Interest in Cerebrospinal Fluid and Plasma in the Context of Alzheimer-Related Cognitive Impairment in Down Syndrome Patients

Biomedicines, 2022
Down syndrome (DS) is a complex genetic condition due to an additional copy of human chromosome 21, which results in the deregulation of many genes. In addition to the intellectual disability associated with DS, adults with DS also have an ultrahigh risk
Manon Moreau, Maria Carmona-Iragui, Miren Altuna, Lorraine Dalzon, Isabel Barroeta, Marie Vilaire, Sophie Durand, Juan Fortea, Anne-Sophie Rebillat, Nathalie Janel   +9 more
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