Results 71 to 80 of about 4,840 (178)

Comprehensive cross-disorder analyses of CNTNAP2 suggest it is unlikely to be a primary risk gene for psychiatric disorders.

PLoS Genetics, 2018
The contactin-associated protein-like 2 (CNTNAP2) gene is a member of the neurexin superfamily. CNTNAP2 was first implicated in the cortical dysplasia-focal epilepsy (CDFE) syndrome, a recessive disease characterized by intellectual disability, epilepsy,
Claudio Toma, Kerrie D Pierce, Alex D Shaw, Anna Heath, Philip B Mitchell, Peter R Schofield, Janice M Fullerton   +6 more
doaj   +1 more source

Contributions of the Alzheimer's Disease Neuroimaging Initiative to advancing AD research: a targeted review of recent publications

Alzheimer's &Dementia, Volume 22, Issue 6, June 2026.
Abstract The Alzheimer's Disease Neuroimaging Initiative (ADNI) recently celebrated its 20th anniversary, reflecting two decades of major contributions to Alzheimer's research through open data sharing and longitudinal multimodal assessments. This review synthesizes 122 high‐impact studies using ADNI data or biospecimens from 2023 to mid‐2025 to ...
Dallas P. Veitch, Melanie J. Miller, Shaveta Kanoria, Paul S. Aisen, Laurel A. Beckett, Robert C. Green, Danielle J. Harvey, Clifford R. Jack Jr., William Jagust, Edward B. Lee, Kwangsik Nho, Rachel Nosheny, Ozioma C. Okonkwo, Richard J. Perrin, Ronald C. Petersen, Monica Rivera Mindt, Andrew J. Saykin, Leslie M. Shaw, Arthur W. Toga, Duygu Tosun, Susan M Landau, Michael W. Weiner, for the Alzheimer's Disease Neuroimaging Initiative   +22 more
wiley   +1 more source

CNTNAP2 expression in autism and control brains.

, 2013
(A) CNTNAP2 expression normalized to TBP and (B) log transformed. (C) CNTNAP2 expression as a function of age in cases (red dots) and controls (black dots), and (D) CNTNAP2 expression in autism and control brains adjusted for age and age2 effects.
Srirangan Sampath (473610), Shambu Bhat (473611), Andrew B. West (185211), Aravinda Chakravarti (77021), Simone Gupta (473612), Ashley O’Connor (473613), Dan E. Arking (143354)   +6 more
core   +1 more source

Deep phenotyping reveals movement phenotypes in mouse neurodevelopmental models

Molecular Autism, 2022
Background Repetitive action, resistance to environmental change and fine motor disruptions are hallmarks of autism spectrum disorder (ASD) and other neurodevelopmental disorders, and vary considerably from individual to individual.
Ugne Klibaite, Mikhail Kislin, Jessica L. Verpeut, Silke Bergeler, Xiaoting Sun, Joshua W. Shaevitz, Samuel S.-H. Wang   +6 more
doaj   +1 more source

Diminished Signal‐to‐Noise Ratio Disrupts Somatosensory Population Encoding and Drives Tactile Hyposensitivity in the Fmr1−/y Autism Model

Advanced Science, Volume 13, Issue 28, 18 May 2026.
This study provides a translational approach for linking neural activity to tactile deficits in autism. By combining psychophysics with cortical recordings in a mouse model of autism, we show that low signal‐to‐noise ratio in somatosensory neurons weakens population encoding of fine touch, impairing detection, decoding, and leading to perceptual ...
Ourania Semelidou, Théo Gauvrit, Célien Vandromme, Alexandre Cornier, Anna Saint‐Jean, Yves Le Feuvre, Melanie Ginger, Andreas Frick   +7 more
wiley   +1 more source

Data_Sheet_1_Intermittent hypoxia-induced enhancement of sociability and working memory associates with CNTNAP2 upregulation.pdf

, 2023
IntroductionHypoxia is an environmental risk factor for many disorders throughout life. Perinatal hypoxia contributes to autism spectrum disorder (ASD), while hypoxic conditions in the elderly facilitate memory deficits.
Yang Bai (198601), Qing Zhang (1802), Fang Cai (48026), Weihong Song (436487), Mengen Xing (15190432), Lu Xu (386491), Yili Wu (436485), Peiye Chen (15190429)   +7 more
core   +1 more source

Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C

Molecular Genetics & Genomic Medicine, 2021
Background Terminal deletions of the long arm of chromosome 7 are well known and frequently associated with syndromic holoprosencephaly due to the involvement of the SHH (aliases HHG1, SMMCI, TPT, TPTPS, and MCOPCB5) gene region.
Lucie Tosca, Loïc Drévillon, Aurélie Mouka, Laure Lecerf, Audrey Briand, Valérie Ortonne, Virginie Benoit, Sophie Brisset, Lionel Van Maldergem, Quitterie Laudouar, Solveig Heide, Michel Goossens, Irina Giurgea, Gérard Tachdjian, Corinne Métay   +14 more
doaj   +1 more source

Single‐cell transcriptomic analysis reveals APOE genotype‐dependent sex differences in Alzheimer's disease

Alzheimer's &Dementia, Volume 22, Issue 5, May 2026.
Abstract INTRODUCTION Alzheimer's disease (AD) is the most common form of dementia, with approximately two‐thirds of AD patients being female. Basic and clinical research studies provide strong evidence that sex‐specific differences contribute to AD complexity.
Gefei Yu, Abigail Thorpe, Qi Zeng, Erming Wang, Alison Goate, Dongming Cai, Minghui Wang, Bin Zhang   +7 more
wiley   +1 more source

Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures

Frontiers in Pediatrics, 2020
Introduction: Mutations in the contactin-associated protein-like 2 (CNTNAP2) gene (MIM#604569) encoding for CASPR2, a cell adhesion protein of the neurexin family, are known to be associated with autism, intellectual disability, and other ...
Raffaele Falsaperla, Xena Giada Pappalardo, Xena Giada Pappalardo, Catia Romano, Simona Domenica Marino, Giovanni Corsello, Martino Ruggieri, Enrico Parano, Piero Pavone   +8 more
doaj   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source