Results 41 to 50 of about 14,329 (173)

Refining the electroclinical phenotype of 15q11.2 microdeletion: EEG biomarker overlap with Angelman syndrome

Epileptic Disorders, EarlyView.
Abstract The 15q11.2 microdeletion is a chromosomal condition associated with a broad epileptic phenotype. It is differentiated from Angelman syndrome, which is typically a larger maternal deletion in an overlapping area. We describe a patient with a 15q11.2 microdeletion that has clinical and EEG biomarker features similar to those seen in Angelman ...
Hok Leong Chin, Joshua Chang, Douglas Nordli III   +2 more
wiley   +1 more source

Pragmatic screening for autoimmune‐associated epilepsy in drug‐resistant epilepsy of unknown etiology in resource‐limited settings: A hypothesis‐generating study

Epileptic Disorders, EarlyView.
Abstract Objective To evaluate the feasibility of investigating autoimmune etiology in adults with drug‐resistant epilepsy (DRE) of unknown origin in resource‐limited settings and to develop a pragmatic, hypothesis‐generating screening approach to guide autoantibody testing. Methods A prospective observational study including adults with DRE of unknown
Tomásia O. de H. M. Frezatti, Ricardo L. Saute, Veriano Alexandre Júnior, Frederico N. Nakano, Marina T. R. P. Dalio, Tonicarlo R. Velasco, João P. Leite, Antônio Carlos dos Santos, Vanessa D. Marques, Américo C. Sakamoto   +9 more
wiley   +1 more source

mRNP granule proteins Fmrp and Dcp1a differentially regulate mRNP complexes to contribute to control of muscle stem cell quiescence and activation

Skeletal Muscle, 2021
Background During skeletal muscle regeneration, satellite stem cells use distinct pathways to repair damaged myofibers or to self-renew by returning to quiescence.
Nainita Roy, Swetha Sundar, Malini Pillai, Farah Patell-Socha, Sravya Ganesh, Ajoy Aloysius, Mohammed Rumman, Hardik Gala, Simon M. Hughes, Peter S. Zammit, Jyotsna Dhawan   +10 more
doaj   +1 more source

A multicenter analysis of 1364 elective/rescue cerclages in Brazil: Perinatal outcomes, complications, and the role of vaginal progesterone

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective To evaluate perinatal outcomes in women undergoing cervical cerclage for prevention of preterm birth in Brazilian maternity hospitals. Methods This retrospective cohort study included 1364 women with singleton pregnancies who underwent elective or rescue cervical cerclage between December 2003 and November 2025.
Isabella C. Bragheto, Gabriela M. Pereira, Camila Mirandez, Marcelo Luis Nomura, Elton Carlos Ferreira, Rodolfo C. de Pacagnella, Evelyn Traina, Danilo B. Silva, Karayna Gil Fernandes, Julia Negro, Conrado M. Coutinho, Manuella R. Pereira, Janete Vettorazzi, Julia Hubner, Edson Vieira Cunha Filho, Ellen M. Arlindo, Aluana R. Parola, Pedro D. Correa, Renato Passini Junior, Renato T. Souza   +19 more
wiley   +1 more source

Cardiac Histomorphometric Implications Resulting From Chronic Nandrolone Decanoate Treatment in Rats Subjected to Resistance Training

Journal of Applied Toxicology, EarlyView.
ABSTRACT The effects of anabolic steroid abuse on the cardiac tissue of resistance training practitioners are poorly understood. Herein, we present the histomorphometric implications of resistance training in rats treated with nandrolone decanoate, an androgenic anabolic steroid. Eighteen‐week‐old male Wistar rats (N = 32) were divided into two groups (
Lucas D. Ferreira, Tallys E. Velasco, Bruno A. Aguilar, João V. M. Bernal, Gabriel A. Lavez, João P. Passaglia, Hugo C. D. Souza   +6 more
wiley   +1 more source

Mammalian FMRP S499 is phosphorylated by CK2 and promotes secondary phosphorylation of FMRP

, 2016
The fragile X mental retardation protein (FMRP) is an mRNA-binding regulator of protein translation that associates with 4-6% of brain transcripts and is central to neurodevelopment.
Gong, Xuan, Mihailescu, Mihaela Rita, Miyares, Laura, Blice-Baum, Anna, Bordey, Angélique, Bartley, Christopher M., Karaca, Esra, O’Keefe, Rachel A.   +7 more
core   +1 more source

FMRP protects breast cancer cells from ferroptosis by promoting SLC7A11 alternative splicing through interacting with hnRNPM

Redox Biology
Ferroptosis is a unique modality of regulated cell death that is driven by iron-dependent phospholipid peroxidation. N6-methyladenosine (m6A) RNA modification participates in varieties of cellular processes. However, it remains elusive whether m6A reader
Nan Wang, Bin Shi, Lu Ding, Xu Zhang, Xiaolan Ma, Songlin Guo, Xia Qiao, Libin Wang, Duan Ma, Jia Cao   +9 more
doaj   +1 more source

Genômica do X-frágil: elementos de regulação do Gene FMR1 [PDF]

, 2008
Tese (doutorado) - Universidade Federal de Santa Catarina, Centro Tecnológico. Programa de Pós-Graduação em Engenharia Química, Florianópolis, 2008.A Síndrome do X Frágil (SXF) é a forma de retardo mental herdado mais comum encontrada, afetando um entre ...
Serpa, Gisele
core  

A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P [PDF]

, 2001
The absence of the fragile X mental retardation protein (FMRP), encoded by the FMR1 gene, is responsible for pathologic manifestations in the Fragile X Syndrome, the most frequent cause of inherited mental retardation.
A. Schenck, Bardoni, B., Schenck A., Bardoni B., Moro A., Bagni C., Mandel J.-L., Moro, A., Bardoni B., A. Moro, Schenck A., Moro, Annamaria, Schenck, A., Moro A., Bardoni, Barbara, B. Bardoni, Mandel, Jean-Louis, Mandel J. L., C. Bagni, Mandel, J.L., Bagni, Claudia, Schenck, Annette, J.-L. Mandel   +18 more
core   +1 more source

MOV10 and FMRP interact with AGO2 to regulate Dicer1 mRNA expression.

, 2021
(A). Part I of model showing the recruitment of AGO to a miRNA following interaction with FMRP (B). Part II of model showing fate of Dicer1 mRNA bound by MOV10 and FMRP. Binding of both FMRP and MOV10 in proximity of MRE blocks association with AGO2 [12].
Joshua Nielsen (11772732), Temirlan Shilikbay (11772738), Stephanie Ceman (4218460), Monica C. Lannom (11772729), Aatiqa Nawaz (11772735)   +4 more
core   +1 more source