Results 61 to 70 of about 4,840 (178)

Developmental deficits of MGE-derived interneurons in the Cntnap2 knockout mouse model of autism spectrum disorder

Frontiers in Cell and Developmental Biology, 2023
Interneurons are fundamental cells for maintaining the excitation-inhibition balance in the brain in health and disease. While interneurons have been shown to play a key role in the pathophysiology of autism spectrum disorder (ASD) in adult mice, little ...
Noorya Yasmin Ahmed, Rhys Knowles, Lixinyu Liu, Yiming Yan, Xiaohan Li, Ulrike Schumann, Yumeng Wang, Yovina Sontani, Nathan Reynolds, Riccardo Natoli, Jiayu Wen, Isabel Del Pino, Da Mi, Nathalie Dehorter   +13 more
doaj   +1 more source

DNA Methylation and Transcriptomic Profiles of Wilms Tumour Reveal New Deregulated Genes and Epigenetic Processes Relevant for Tumour Stratification and Management

International Journal of Cancer, EarlyView.
ABSTRACT Wilms Tumour (WT), the most common kidney cancer in children, presents features of altered kidney development and frequently exhibits molecular alterations at the 11p15.5 imprinted locus, affecting the IGF2 and H19 genes, which contribute to tumour growth and predisposition.
Abu Saadat, Francesco Cecere, Federica Rossetti, Laura Pignata, Emilia D'Angelo, Carlo Giaccari, Gaetano Verde, Paola Quarello, Franca Fagioli, Josep Roma, Manel Esteller, Enrique de Álava, Flavia Cerrato, Andrea Riccio, Angela Sparago   +14 more
wiley   +1 more source

Interaction of the Gut Microbiota and the Enteric Nervous System: Implications in Gastrointestinal Disorders Associated With Autism Spectrum Disorder

Autism Research, Volume 19, Issue 8, August 2026.
ABSTRACT Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairments in social interaction, restricted interests, and repetitive behaviors. In addition to these core behavioral symptoms, gastrointestinal (GI) disorders are frequently reported, ranging from severe constipation to diarrhea.
Baptiste Ganachaud, María José Mendoza‐León, Justine Marchix, Alonso Fernandez Tello, Catherine Le Berre Scoul, Ma Cecilia Opazo, Michel Neunlist, Claudia A. Riedel, Martial Caillaud, Hélène Boudin   +9 more
wiley   +1 more source

Loss of Cntnap2-/- decreases spine density.

, 2015
a. Low magnification images of dendrites and spines in WT mouse (left), and in Cntnap2-/- mouse (right). b. Quantification of spine-density. Top plot analysis per mouse (n = 10 Cntnap2-/- mice, n = 8 WT mice).
Peyman Golshani (85724), Joshua T. Trachtenberg (366144), Daniel H. Gescwind (736146), Amos Gdalyahu (3213810), Olga Penagarikano (736145), Maria Lazaro (736144)   +5 more
core   +1 more source

The juxtaparanodal proteins CNTNAP2 and TAG1 regulate diet-induced obesity [PDF]

Mammalian Genome, 2012
Despite considerable effort, the identification of genes that regulate complex multigenic traits such as obesity has proven difficult with conventional methodologies. The use of a chromosome substitution strain-based mapping strategy based on deep congenic analysis overcame many of the difficulties associated with gene discovery and led to the finding ...
David A, Buchner, Jon M, Geisinger, Patricia A, Glazebrook, Michael G, Morgan, Sabrina H, Spiezio, Karl J, Kaiyala, Michael W, Schwartz, Takeshi, Sakurai, Andrew J, Furley, Diana L, Kunze, Colleen M, Croniger, Joseph H, Nadeau   +11 more
openaire   +2 more sources

Clinical utility and genetic landscape of exome sequencing in a large pediatric epilepsy cohort: Insights from a Turkish tertiary care center

Epileptic Disorders, Volume 28, Issue 4, Page 1252-1273, August 2026.
Abstract Objective To evaluate the diagnostic utility and genetic spectrum of next‐generation sequencing (NGS) in a large, well‐phenotyped cohort of Turkish pediatric patients with epilepsy of unknown etiology. Methods Between January 2021 and December 2024, 250 children (115 female, 135 male) with unexplained epilepsy underwent either whole‐exome ...
Derya Karaer, Beste Kipçak Yüzbaşı, İpek Şahin, Olcay Güngör, Kadri Karaer   +4 more
wiley   +1 more source

Correction: Defining the Contribution of CNTNAP2 to Autism Susceptibility

PLoS ONE, 2013
Author Maria X. Sosa is missing from the author byline. Dr. Sosa should be listed as the fifth author and affiliated with institution number 1, Center for Complex Disease Genomics, McKusick-Nathans Institute of Genetics Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
Sampath, Srirangan, Bhat, Shambu, Gupta, Simone, O’Connor, Ashley, West, Andrew B., Arking, Dan E., Chakravarti, Aravinda   +6 more
openaire   +3 more sources

The gut microbiome organ

iMeta, Volume 5, Issue 4, August 2026.
The gut microbiome can be conceptualized as a distributed organ‐like functional system with spatially structured organization, broad biochemical capacity, and continuous bidirectional communication with the host. By transforming dietary, host‐derived, and environmental substrates into bioactive metabolites with endocrine‐like, immunomodulatory, and ...
Yang Bi, Weibin Song, Maria Glymenaki, Jie Hu, Xiru Li, Heng Huang, Yousong Peng, Shuaishuai Ni, Ornuma Haonon, Zhu Liu, Krai Daowtak, Xiaotao Shen, Huadong Peng, Jutarop Phetcharaburanin, Huiru Tang, Yulan Wang, Jia V. Li, Mizu Jiang, Nick Powell, Victor W. Zhong, Elaine Holmes, Yunlei Xianyu, Zhigang Liu   +22 more
wiley   +1 more source

Cntnap2-dependent molecular networks in autism spectrum disorder revealed through an integrative multi-omics analysis

, 2023
Autism spectrum disorder (ASD) is a major neurodevelopmental disorder in which patients present with core symptoms of social communication impairment, restricted interest, and repetitive behaviors. Although various studies have been performed to identify
Park, Gaeun, Kim, Min-Sik, Na, Chan Hyun, Shin, Chan Young, Lee, Yong-Seok, An, Joon-Yong, Kim, Jin Young, Bang, Geul, Park, Ji Hwan, Kim, Kwang Pyo, Kim, Kwang-Youl, Jang, Wooyoung Eric   +11 more
core   +1 more source

The CNTNAP2-CASK complex modulates GluA1 subcellular distribution in interneurons [PDF]

Neuroscience Letters, 2019
GABAergic interneurons are emerging as prominent substrates in the pathophysiology of multiple neurodevelopmental disorders, including autism spectrum disorders, schizophrenia, intellectual disability, and epilepsy. Interneuron excitatory activity is influenced by 2-amino-3-(3-hydroxy-5-methyl-isoxazol-4-yl) propanoic acid receptors (AMPARs), which in ...
Ruoqi, Gao, Colleen R, Zaccard, Lauren P, Shapiro, Leonardo E, Dionisio, Maria Dolores, Martin-de-Saavedra, Nicolas H, Piguel, Christopher P, Pratt, Katherine E, Horan, Peter, Penzes   +8 more
openaire   +2 more sources