Results 51 to 60 of about 35,737,382 (164)

Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay

Case Reports in Genetics, 2012
The contactin-associated protein-like 2 (CNTNAP2) gene is highly expressed in the frontal lobe circuits in the developing human brain. Mutations in this gene have been associated with several neurodevelopmental disorders such as autism and specific ...
Amel Al-Murrani, Fern Ashton, Salim Aftimos, Alice M. George, Donald R. Love   +4 more
doaj   +1 more source

Plasma Proteome Reflects Tissue Damage and Clinical Manifestations in Patients With Inflammatory Myopathies

Arthritis &Rheumatology, EarlyView.
Objective Tissue‐specific biomarkers that are reliable and associated with clinical manifestations of idiopathic inflammatory myopathy (IIM) are lacking. The blood circulation in individuals serves as a central conduit, allowing communication between tissues and facilitating clearance and recycling of tissue‐derived proteins.
Yue‐Bei Luo, Josefin Kenrick, Angeles S. Galindo‐Feria, Antonella Notarnicola, Ana Daniela Ulloa Navas, Irene Peralta‐Garcia, Orane Demuynck, Andrea Kemp, Valérie Leclair, Karin Lodin, Eveline Van Gompel, Lara Dani, Fabricio Espinosa‐Ortega, Maryam Dastmalchi, Leonid Padyukov, Charlotta Preger, María Bueno Álvez, Mathias Uhlén, Peter Nilsson, Fredrik Edfors, Lina‐Marcela Diaz‐Gallo, Elisa Pin, Ingrid E. Lundberg, Begum Horuluoglu   +23 more
wiley   +1 more source

Data_Sheet_1_The role of contactin-associated protein-like 2 in neurodevelopmental disease and human cerebral cortex evolution.PDF

, 2022
The contactin-associated protein-like 2 (CNTNAP2) gene is associated with multiple neurodevelopmental disorders, including autism spectrum disorder (ASD), intellectual disability (ID), and specific language impairment (SLI).
Frederick J. Livesey (13984761), Frances St. George-Hyslop (13984758), Toomas Kivisild (10297)   +2 more
core   +1 more source

Rest‐activity patterns across development in two mouse models of autism and epilepsy

Epilepsia Open, EarlyView.
Abstract Objective Sleep disturbances are common in individuals with autism spectrum disorder (ASD) and epilepsy and are increasingly recognized as comorbidities that affect disease severity and quality of life. This study investigated rest‐activity patterns across development in two genetic mouse models relevant to ASD and epilepsy: synapsin 2 (Syn2 ...
Ipsa Dash, Filip Fredlund, Jenny Wickham, My Andersson, Christine T. Ekdahl   +4 more
wiley   +1 more source

Early-Stage Contactin-Associated Protein-like 2 Limbic Encephalitis

, 2023
Background and objectives: Previous studies suggested that autoimmune limbic encephalitis with antibodies against contactin-associated protein-like 2 (CASPR2-encephalitis) is clinically heterogeneous and progresses slowly, preventing its early recognition.
Benoit, Jeanne, Muñiz-Castrillo, Sergio, Vogrig, Alberto, Farina, Antonio, Pinto, Anne-Laurie, Picard, Geraldine, Rogemond, Veronique, Guery, Deborah, Alentorn, Agusti, Psimaras, Dimitri, Rheims, Sylvain, Honnorat, Jérôme, Joubert, Bastien   +12 more
openaire   +1 more source

CNTNAP3 Associated ATG16L1 Expression and Crohn’s Disease

Mediators of Inflammation, 2015
Autophagy is a common physiological process in cell homeostasis and regulation. Autophagy-related gene mutations and autophagy disorders are important in Crohn’s disease (CD).
Yu Qi Qiao, Mei Lan Huang, Qing Zheng, Tian Rong Wang, An Tao Xu, Yuan Cao, Di Zhao, Zhi Hua Ran, Jun Shen   +8 more
doaj   +1 more source

Eyelid Tremor in a Patient with Anti-Caspr2 Antibody-Related Encephalitis

Case Reports in Neurology, 2014
We describe the first case of a patient with eyelid tremor probably associated with anti-contactin-associated protein-like 2 (Caspr2) antibody. Encephalitis associated with anti-voltage-gated potassium channel antibody is now attributed to autoantibodies
Shuichi Ueno, Makito Hirano, Hikaru Sakamoto, Susumu Kusunoki, Yusaku Nakamura   +4 more
doaj   +1 more source

Shared dysregulation of complement and phosphorylation pathways in the cerebrospinal fluid of encephalitis, Aicardi–Goutières syndrome, and autism

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To identify shared and disorder‐specific molecular alterations across encephalitis, Aicardi–Goutières syndrome (AGS), and autism spectrum disorder (ASD) using cerebrospinal fluid (CSF) proteomics. Method In this cross‐sectional case–control study, mass‐spectrometry‐based proteomics was performed on archived CSF samples collected between ...
Omar H. Shadid, Peter G. Hains, Velda X. Han, Jingya Yan, Michael Griffiths, Ignatius Pang, Sushil Bandodkar, Phillip J. Robinson, Russell C. Dale   +8 more
wiley   +1 more source

Clinical Features and Prognosis in Chinese Patients With Dipeptidyl–Peptidase–Like Protein 6 Antibody–Associated Encephalitis

Frontiers in Neurology, 2022
Objectives:Anti-dipeptidyl–peptidase–like protein 6 (anti-DPPX) encephalitis an extremely rare type of immune-mediated encephalitis. This study aimed to analyze the electroclinical characteristics and prognosis of anti-DPPX encephalitis.Methods:Five ...
Ailiang Miao, Ailiang Miao, Yongwei Shi, Xiaoshan Wang, Jianqing Ge, Chuanyong Yu   +5 more
doaj   +1 more source

Chd4 and ThPOK cooperate to preserve structural and electrophysiological integrity of the adult heart through Sprr1a repression

The FEBS Journal, EarlyView.
Chd4/NuRD and ThPOK cooperate to maintain transcriptional repression and nuclear organization in adult cardiomyocytes. Chd4 loss reduces miR‐150‐5p, relieving repression of Sprr1a, while ThPOK loss further enhances Sprr1a activation, possibly through altered chromatin–lamina interactions.
Fadoua El Abdellaoui‐Soussi, Apolonia Novillo, Rocío Brea, Marta Ysbert, Lorena Cussó, Gonzalo Pizarro‐Sánchez, Manuel Desco, Iván Hernández, Ángel Luis Armesilla, Ignacio Pérez de Castro, Alicia R. Folgueras, Juan Miguel Redondo, Pablo Gómez‐del Arco   +12 more
wiley   +1 more source