Results 101 to 110 of about 21,903 (205)

Fragile X mental retardation protein expression in Alzheimer’s disease

Frontiers in Genetics, 2014
The FMR1 protein product, FMRP, is an mRNA binding protein associated with translational inhibition of target transcripts. One FMRP target is the amyloid precursor protein (APP) mRNA, and APP levels are elevated in Fmr1 KO mice. Given that elevated APP
Abigail J Renoux, Abigail J Renoux, Nicholas M Carducci, Arya A Ahmady, Peter K Todd   +4 more
doaj   +1 more source

FMRP expression in primary breast tumor cells correlates with recurrence and specific site of metastasis.

PLoS ONE, 2023
Breast cancer is the most common cancer among women worldwide. Molecular and clinical evidence indicated that Fragile X Messenger Ribonucleoprotein 1 (FMRP) plays a role in different types of cancer, including breast cancer.
E Caredda, G Pedini, F D'Amico, M G Scioli, L Pacini, P Orsaria, G Vanni, O C Buonomo, A Orlandi, C Bagni, L Palombi   +10 more
doaj   +1 more source

A microRNA cluster in the Fragile-X region expressed during spermatogenesis targets FMR1. [PDF]

, 2019
Testis-expressed X-linked genes typically evolve rapidly. Here, we report on a testis-expressed X-linked microRNA (miRNA) cluster that despite rapid alterations in sequence has retained its position in the Fragile-X region of the X chromosome in ...
Cook-Andersen, Heidi, Dumdie, Jennifer N, Gromoll, Jörg, Haggarty, Stephen J, Jones, Samantha, Peterson, Kevin J, Plank, Terra-Dawn M, Ramaiah, Madhuvanthi, Sheridan, Steven D, Shum, Eleen Y, Song, Hye-Won, Tan, Kun, Wilkinson, Miles F   +12 more
core  

Profiling allele-specific gene expression in brains from individuals with autism spectrum disorder reveals preferential minor allele usage. [PDF]

, 2019
One fundamental but understudied mechanism of gene regulation in disease is allele-specific expression (ASE), the preferential expression of one allele.
A Chess, A de la Chapelle, A Gimelbrant, A Hogart, A McKenna, A Mortazavi, AA Adegbola, AL Oberg, AM Veerappa, B DeVeale, B Howie, B Langmead, B Tycko, C Fuchsberger, C Gicquel, C Gregg, C Lee, CA de Leeuw, CCY Wong, Changhoon Lee, Cross-Disorder Group of the Psychiatric Genomics Consortium., D Kim, Daniel H. Geschwind, DH Geschwind, E Ben-David, E Eden, E Eden, E Gardiner, EH Cook Jr., Eleazar Eskin, EM Quinn, Eun Yong Kang, EY Kang, F Supek, GT Consortium, GV Kryukov, H Li, HA Scoles, I Iossifov, I Voineagu, J Cavaille, J Cavaille, J Grove, JC Darnell, JF Degner, JK Pickrell, KR Kukurba, M Elsabbagh, M Meguro-Horike, Michael J. Gandal, N Mukherjee, NN Parikshak, NN Parikshak, PH Sudmant, PS Bazeley, R Karlic, S Anders, S Kehr, S Kishore, S Nardone, S Purcell, Schizophrenia Working Group of the Psychiatric Genomics Consortium., SE Castel, SJ Sanders, SM Weyn-Vanhentenryck, T Hulsen, V Savova, Y Zhang, YE Wu   +68 more
core   +1 more source

Genetic and Clinical Spectrum of Hereditary Transthyretin Amyloidosis in Brazil

Journal of the Peripheral Nervous System, Volume 31, Issue 1, March 2026.
ABSTRACT Background Transthyretin hereditary amyloidosis (ATTRv) clinical variability has been widely reported, not only across countries and variants but also among families and distinct regions within a single nation. One of the principal challenges in disease management is the accurate determination of age of onset (AOO), which is heterogeneous and ...
Gustavo Maximiano‐Alves, Carolina Lavigne‐Moreira, Marcus Vinicius Simões, Adilson Junior Pinto Galvão, Flavio Henrique Valicelli, Fernando Saraiva Coneglian, Elisa Vegezzi, Pedro Manoel Marques Garibaldi, Pedro José Tomaselli, Andrea Cortese, Wilson Marques Jr   +10 more
wiley   +1 more source

FMRP Mediates mGluR5-Dependent Translation of Amyloid Precursor Protein

PLoS Biology, 2007
Amyloid precursor protein (APP) facilitates synapse formation in the developing brain, while beta-amyloid (Abeta) accumulation, which is associated with Alzheimer disease, results in synaptic loss and impaired neurotransmission. Fragile X mental retardation protein (FMRP) is a cytoplasmic mRNA binding protein whose expression is lost in fragile X ...
Cara J Westmark, James S Malter
openaire   +4 more sources

Exploring the Bidirectional Association Between Migraine and Temporomandibular Disorders: A Systematic Review and Meta‐Analysis

Journal of Oral Rehabilitation, Volume 53, Issue 3, Page 794-806, March 2026.
DC/TMD: Diagnostic Criteria for Temporomandibular Disorders; RDC/TMD: Research Diagnostic Criteria for Temporomandibular Disorders; ICHD: International Classification of Headache Disorders. OR: Odds Ratio. ABSTRACT Background Migraine and temporomandibular disorders (TMD) are comorbid conditions that are highly frequent among patients.
Marlon Ferreira Dias, Amanda Costa Ferro, Juliana Homem Padilha Spavieri, Túlio Morandin Ferrisse, Daniela Aparecida de Godoi Gonçalves   +4 more
wiley   +1 more source

How copy number variations shape brain developmental disorders: Unraveling the synaptic puzzle

Psychiatry and Clinical Neurosciences, Volume 80, Issue 3, Page 166-179, March 2026.
Neurodevelopmental disorders (NDDs), such as schizophrenia (SCZ), Attention‐deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), learning disabilities, and intellectual disabilities (ID), are highly prevalent. One significant genetic factor associated with NDDs is copy number variations (CNVs), which are structural changes in the ...
Tianqi Wang, Kubra Trabzonlu, Emily Fullard Jones, Yasir Ahmed Syed   +3 more
wiley   +1 more source

Le syndrome de l'X fragile : Une protéine absente et 1001 ARNm déboussolés [PDF]

, 2006
Le syndrome du X fragile, première cause de retard mental héréditaire, est une maladie monogénique liée au chromosome X. Le syndrome est causé par l’inactivation du gène Fragile Mental Retardation 1(FMR1) entraînant l’absence de la protéine FMRP dont le ...
Davidovic, Laetitia, De Koninck, Paul, Gravel, Maud, Khandjian, Edward W. Miky, Tremblay, Sandra   +4 more
core   +1 more source

Fmr1 knockout disrupts multiple intrinsic properties via reduced HCN channel activity in mediodorsal thalamocortical neurons

Experimental Physiology, Volume 111, Issue 3, Page 1340-1364, 1 March 2026.
Abstract The neurodevelopmental disorder fragile X syndrome (FXS) results from hypermethylation of the FMR1 gene, which prevents production of the FMRP protein. FMRP modulates the expression and function of a variety of proteins, including voltage‐gated ion channels, such as hyperpolarization‐activated and cyclic nucleotide‐gated (HCN) channels, which ...
Gregory J. Ordemann, Polina Lyuboslavsky, Alena Kizimenko, Audrey C. Brumback   +3 more
wiley   +1 more source