Results 31 to 40 of about 13,790,477 (113)

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

Helsmoortel-Van der Aa syndrome – psychophysical functioning of patient and therapeutic management (case report)

, 2023
Abstract Introduction. Helsmoortel-Van der Aa syndrome (HVDAS) is a rare neurodevelopmental disorder caused by a mutation in the ADNP gene. Many previous studies concern the basis of the disease, but there is also a need to focus on the therapeutic aspect of people with HVDAS. Case presentation.
Aleksandra Mariola Kołecka, Barbara Kołecka   +1 more
openaire   +1 more source

Disruption of ADNP-KDM1A-GTF2I complex drives neural differentiation imbalance in Helsmoortel-Van der Aa syndrome

ABSTRACT Mutations in ADNP (Activity-Dependent Neuroprotective Protein) are among the most frequent monogenic causes of autism spectrum disorder (ASD) and lead to Helsmoortel-Van der Aa syndrome (HVDAS). Yet how ADNP dysfunction leads to HVDAS is unclear. We employed patient-derived induced pluripotent stem cells, cortical organoids and
Rizzuti L, Vitriolo A, Mariana PdA, Pereira MF, Meert L, Dossena F, Prazzoli F, Dekker M, Dekkers DH, Demmers J, van IJcken WF, Soriani C, Gabriele M, Mohiuddin M, Van Dijck A, Finazzi V, Trattaro S, Pallotta D, Tenderini E, Vulto-van Silfhout AT, de Vries BBA, Eichler EE, Pearson CE, Kooy RF, Poot R, Testa G.   +25 more
europepmc   +2 more sources

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

Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses

Prenatal Diagnosis, Volume 45, Issue 3, Page 276-286, March 2025.
Abstract Objective This study aimed to assess the detection rate of clinically significant results of prenatal exome sequencing (pES) in low‐risk pregnancies and apparently normal fetuses in non‐consanguineous couples. Methods A retrospective analysis of pES conducted at a single center from January 2020 to September 2023 was performed.
Michal Levy, Shira Lifshitz, Mirela Goldenberg‐Fumanov, Lily Bazak, Rayna Joy Goldstein, Uri Hamiel, Rachel Berger, Shlomo Lipitz, Idit Maya, Mordechai Shohat   +9 more
wiley   +1 more source

Tau, ADNP, and sex

Cytoskeleton, Volume 81, Issue 1, Page 16-23, January 2024.
Abstract With 50 years to the original discovery of Tau, I gave here my perspective, looking through the prism of activity‐dependent neuroprotective protein (ADNP), and the influence of sex. My starting point was vasoactive intestinal peptide (VIP), a regulator of ADNP. I then moved to the original discovery of ADNP and its active neuroprotective site,
Illana Gozes
wiley   +1 more source

23rd Congress of the European Hematology Association Stockholm, Sweden, June 14‐17, 2018

, 2018
HemaSphere, Volume 2, Issue S1, Page 1-1113, June 2018.
wiley   +1 more source

Ryhiner-Kartensammlung / 33 Nouvelle carte de l'Amerique : avec tous ses royaumes, e[s]tats, iles, ports, bayes et rivieres : dressée suivant les plus nouvelles decouvertes par les plus habiles géographes

et tout nouvellement mise en lumiere par Pierre van der Aa, marchand libraireTitel- und Massstabskartusche oben ...
Aa, Pieter van der
core   +1 more source