Results 201 to 210 of about 225,713 (333)

Bioisostere-Driven Discovery of SePP: A Selenium-Containing Polypharmacological Agent Relevant to Fragile X Syndrome. [PDF]

J Med Chem
Wallach J, Cameron S, Dybek M, Stanley B, Orme C, Riad N, Kavanagh P, Brandt SD, Knapp A, Gamrat J, Jauhola-Straight R, Adejare A, Rogier AJ, Tyagi R, Canal CE.   +14 more
europepmc   +1 more source

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 790-799, April 2026.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

Elevated serotonin receptor 2A signaling restores learning and memory in a Fragile X syndrome model. [PDF]

Sci Rep
Du Y, Miller VK, Mellies AJ, Broadie K.
europepmc   +1 more source

The role of T cells in sepsis of distinct infectious aetiologies

Clinical and Translational Discovery, Volume 6, Issue 2, April 2026.
Pathogen‐specific sepsis induces mitochondrial dysfunction in T cells, leading to functional alterations. Single‐cell transcriptomics reveals subtype‐specific impairments involving reactive oxygen species accumulation, mtDNA damage, calcium dysregulation, and metabolic reprogramming.
Xuanqi Liu, Bijun Zhu, Wanxin Duan, Ruixiang Kang, Xiangdong Wang, Liyang Li   +5 more
wiley   +1 more source

Metabolic reprogramming during human neuron differentiation indicates glutaminase as a key determinant in Fragile X syndrome. [PDF]

Cell Rep
Shah S, Barnes D, Liu B, Tseyang T, Do T, Bubenik JL, Jung S, Anadolu MN, Ivshina MP, Martínez-Cerdeño V, Berry-Kravis E, Swanson MS, Spinelli JB, Richter JD.   +13 more
europepmc   +1 more source

Astrocytes as central integrators of neural circuit function: Mechanisms and dysregulation in neuropsychiatric disorders

Clinical and Translational Discovery, Volume 6, Issue 2, April 2026.
1. Astrocytes are central integrators of neural circuit function through tripartite synapse modulation and neurovascular coupling. 2. Dysregulation of glutamate/GABA homeostasis and neuroinflammation represents shared mechanisms across diverse neuropsychiatric disorders. 3.
Xinyu Liu, Xinyue Zhou, Ruotong Meng, Yanxi Chen, You Chen, Blake Highet, Maurice Curtis, Bernhard Hirt, Shunying Yu, Jin Zhou, Linya You   +10 more
wiley   +1 more source

VGLUT1 and PSD‐95 Expression Remains Stable in the Prefrontal and Cerebellar Cortices of the VPA Autism Rat Model

Developmental Neurobiology, Volume 86, Issue 2, April 2026.
ABSTRACT Autism spectrum disorder (ASD) has recently been described as a synaptopathy where dysregulation at the level of the synapse is thought to evoke an excitation–inhibition (E/I) imbalance implicated in its pathogenesis. The mechanisms through which alterations in glutamatergic signaling bring about an E/I imbalance remain elusive.
Megan Reveley, Gavin Ray Owen, Nancy Tumba, Oladiran Ibukunolu Olateju, Busisiwe Constance Maseko   +4 more
wiley   +1 more source

Altered Neuronal and Circuit Excitability in Fragile X Syndrome.

Neuron, 2015
A. Contractor, V. Klyachko, C. Portera-Cailliau   +2 more
semanticscholar   +1 more source

Component analysis of a self‐monitoring intervention for increasing task engagement for individuals with developmental disabilities

Journal of Applied Behavior Analysis, Volume 59, Issue 2, Spring 2026.
Abstract Self‐monitoring (SM) has been used as part of intervention packages to enhance skills such as leisure and vocational engagement for individuals with intellectual and developmental disabilities (IDD). However, the effectiveness of SM alone remains unclear.
Erin Leif, Eileen Roscoe, Lauren Rae, Sam Sheets   +3 more
wiley   +1 more source

Altered Auditory Maturation in Fragile X Syndrome and Its Involvement in Audiogenic Seizure Susceptibility. [PDF]

Autism Res
Möhrle D, Ma D, Xue W, Yan J, Cheng N.
europepmc   +1 more source