Results 121 to 130 of about 165,525 (264)

Mxc, a Drosophila homolog of mental retardation-associated gene NPAT, maintains neural stem cell fate. [PDF]

Cell Biosci, 2022
Sang R, Wu C, Xie S, Xu X, Lou Y, Ge W, Xi Y, Yang X.   +7 more
europepmc   +1 more source

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source

Mixed Epithelial and Stromal Tumor of the Kidney in a Patient With Mental Retardation: A Case Report. [PDF]

IJU Case Rep
Sato K, Hirai K, Yokomizo Y, Fujioka A, Ito Y, Chiba S, Murayama J.   +6 more
europepmc   +1 more source

Autism with dysphasia accompanied by mental retardation caused by FOXP1 exon deletion: A case report. [PDF]

World J Clin Cases, 2021
Lin SZ, Zhou XY, Wang WQ, Jiang K.
europepmc   +1 more source

From Marginal to Central: Marginal Zone‐like B Cells as Critical Targets in Cladribine‐Treated Multiple Sclerosis

Annals of Neurology, EarlyView.
Objective Multiple sclerosis (MS) is a chronic autoimmune disease where B cells play a central pathogenic role. Cladribine, an oral therapy, provides durable benefits by reshaping lymphocyte populations, yet its specific long‐term impact on distinct B‐cell subsets is not fully understood.
Marta Pirronello, Mario Picozza, Gisella Guerrera, Silvia Corbisiero, Andrea Misiti, Roberta C. Placido, Alice Verdiani, Lorenzo de Marco, Manolo Sambucci, Elena Olivieri, Daniela F. Angelini, Esmeralda Quartuccio, Luca Prosperini, Carla Tortorella, Maria C. Buscarinu, Valeria Zancan, Francesca de Masi, Marco Salvetti, Claudio Gasperini, Giovanna Borsellino, Luca Battistini   +20 more
wiley   +1 more source

Erratum: The prognostic significance of fragile X mental retardation syndrome-related protein 1 (FXR1) in breast cancer. [PDF]

Transl Cancer Res
Editorial Office.
europepmc   +1 more source

Treating refractory corneal hydrops in a male patient with vernal keratoconjunctivitis and mental retardation: a case report. [PDF]

BMC Ophthalmol, 2022
Shih EJ, Lin JC, Peng KL, Chen JL.
europepmc   +1 more source

Proto‐Panic Modulation by Caffeine‐Proteinoid Complexes

Journal of Applied Polymer Science, EarlyView.
Caffeine–proteinoid microspheres synthesized by thermal polymerization exhibit compartmentalized drug loading with encapsulation efficiencies of 61%–82% and triphasic release kinetics. Electrochemical monitoring reveals multi‐scale oscillatory dynamics consistent with chaotic and damped harmonic behavior, while Boolean logic operations demonstrate ...
Panagiotis Mougkogiannis, Andrew Adamatzky   +1 more
wiley   +1 more source

<i>De novo</i> frameshift mutation in SYNGAP1 resulting in autosomal dominant mental retardation type 5 and autism spectrum disorder: a case report. [PDF]

Front Pediatr
Lin S, Qi Y, Xie H, Sun X, Wang W, Jiang K.   +5 more
europepmc   +1 more source

Cellular distribution of the Fragile X mental retardation protein in the inner ear: a developmental and comparative study in the mouse, rat, gerbil, and chicken. [PDF]

J Comp Neurol, 2023
Wang X, Fan Q, Yu X, Wang Y.
europepmc   +1 more source