Results 21 to 30 of about 13,790,427 (112)

Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel-Van der Aa syndrome. [PDF]

Eur J Hum Genet
: Mutations in ADNP result in Helsmoortel-Van der Aa syndrome. Here, we describe the first de novo intronic deletion, affecting the splice-acceptor site of the first coding ADNP exon in a five-year-old girl with developmental delay and autism.
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.   +9 more
europepmc   +3 more sources

Correction to: ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel–Van Der Aa syndrome autopsy case

Acta Neuropathologica Communications
Claudio D’Incal, Anke Van Dijck, Joe Ibrahim, Kevin De Man, Lina Bastini, Anthony Konings, Ellen Elinck, Claudia Theys, Illana Gozes, Zlatko Marusic, Mirna Anicic, Jurica Vukovic, Nathalie Van der Aa, Ligia Mateiu, Wim Vanden Berghe, R. Frank Kooy   +15 more
doaj   +2 more sources

An open-label study evaluating the safety, behavioral, and electrophysiological outcomes of low-dose ketamine in children with ADNP syndrome

HGG Advances, 2022
Summary: Activity-dependent neuroprotective protein (ADNP) syndrome is a rare genetic condition associated with intellectual disability and autism spectrum disorder.
Alexander Kolevzon, Tess Levy, Sarah Barkley, Sandra Bedrosian-Sermone, Matthew Davis, Jennifer Foss-Feig, Danielle Halpern, Katherine Keller, Ana Kostic, Christina Layton, Rebecca Lee, Bonnie Lerman, Matthew Might, Sven Sandin, Paige M. Siper, Laura G. Sloofman, Hannah Walker, Jessica Zweifach, Joseph D. Buxbaum   +18 more
doaj   +1 more source

A novel davunetide (NAPVSIPQQ to NAPVSIPQE) point mutation in activity‐dependent neuroprotective protein (ADNP) causes a mild developmental syndrome

European Journal of Neuroscience, Volume 58, Issue 2, Page 2641-2652, July 2023., 2023
De novo missense mutation, resulting in ADNP containing NAPVISPQE instead of NAPVSIPQQ, in a toddler presenting hypotonia, early food intake problems and fear of peer interactions, a novel mild ADNP syndrome case. Modelled in silico, the Q to E mutation affected the electrostatic characteristics and molecular interactions of ADNP through the NAP ...
Illana Gozes, Shula Shazman
wiley   +1 more source

ADNP Controls Gene Expression Through Local Chromatin Architecture by Association With BRG1 and CHD4

Frontiers in Cell and Developmental Biology, 2020
ADNP (Activity Dependent Neuroprotective Protein) is proposed as a neuroprotective protein whose aberrant expression has been frequently linked to rare neural developmental disorders and cancers, including the recently described neurodevelopmental ...
XiaoYun Sun, WenJun Yu, Li Li, YuHua Sun, YuHua Sun   +4 more
doaj   +1 more source

Whole genome sequencing of 45 Japanese patients with intellectual disability

American Journal of Medical Genetics Part A, Volume 185, Issue 5, Page 1468-1480, May 2021., 2021
Abstract Intellectual disability (ID) is characterized by significant limitations in both intellectual functioning and adaptive behaviors, originating before the age of 18 years. However, the genetic etiologies of ID are still incompletely elucidated due to the wide range of clinical and genetic heterogeneity.
Chihiro Abe‐Hatano, Aritoshi Iida, Shunichi Kosugi, Yukihide Momozawa, Chikashi Terao, Keiko Ishikawa, Mariko Okubo, Yasuo Hachiya, Hiroya Nishida, Kazuyuki Nakamura, Rie Miyata, Chie Murakami, Kan Takahashi, Kyoko Hoshino, Haruko Sakamoto, Sayaka Ohta, Masaya Kubota, Eri Takeshita, Akihiko Ishiyama, Eiji Nakagawa, Masayuki Sasaki, Mitsuhiro Kato, Naomichi Matsumoto, Yoichiro Kamatani, Michiaki Kubo, Yoshiyuki Takahashi, Jun Natsume, Ken Inoue, Yu‐Ichi Goto   +28 more
wiley   +1 more source

The ADNP Syndrome and CP201 (NAP) Potential and Hope

Frontiers in Neurology, 2020
Activity-dependent neuroprotective protein (ADNP) syndrome, also known as Helsmoortel-Van Der Aa syndrome, is a rare condition, which is diagnosed in children exhibiting signs of autism.
Illana Gozes
doaj   +1 more source

Early behavioral and developmental interventions in ADNP‐syndrome: A case report of SWI/SNF‐related neurodevelopmental syndrome

Molecular Genetics &Genomic Medicine, Volume 8, Issue 6, June 2020., 2020
ADNP is a regulator of the SWI/SNF chromatin remodelling complex. Abstract Background Autism spectrum disorder (ASD) affects approximately one in 59 children. Variants in the activity‐dependent neuroprotector homeobox ADNP (OMIM #611386) gene may be one of the most common single‐gene causes of syndromic ASD.
Amelle Shillington, Ernest Pedapati, Robert Hopkin, Kristen Suhrie   +3 more
wiley   +1 more source

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
doaj   +1 more source

Presymptomatic Biological, Structural, and Functional Diagnostic Biomarkers of Autism Spectrum Disorder

Journal of Neurochemistry, Volume 169, Issue 5, May 2025.
Autism spectrum disorder (ASD) is diagnosed after behavioral symptoms emerge, highlighting the need for early biological markers, such as brain scans, genetic profiles, and biological samples from blood and urine tests, that could predict ASD before symptoms develop.
Bonnie M. Wang, Zoe Mills, Hannah F. Jones, Johanna M. Montgomery, Kevin Y. Lee   +4 more
wiley   +1 more source