Results 121 to 130 of about 1,025,641 (274)

Affective phenotypes in heterozygous LRRK2 R1441G knock-in mice

Frontiers in Genetics
Several missense mutations in the LRRK2 gene are linked to familial Parkinson’s disease (PD). Although LRRK2 mutant mouse models typically lack gross motor impairments, their contribution to non-motor PD symptoms remains largely underexplored.
Marcus H. F. Ng, Jimmy W. Y. Lam, Zoe Y. K. Choi, Hui-Fang Liu, Philip W. L. Ho, Philip W. L. Ho, Benson W. M. Lau, Benson W. M. Lau, Benjamin K. Yee, Benjamin K. Yee   +9 more
doaj   +1 more source

Evolution‐guided yeast complementation reveals functional differences in human PSPH variants

FEBS Open Bio, EarlyView.
Ancient genomes can help guide which human genetic variants are tested experimentally. This study applies that idea to PSPH, a gene involved in serine biosynthesis, and uses high‐throughput yeast complementation to compare variant function. The findings reveal measurable differences among selected alleles and illustrate the value of evolution‐guided ...
Mauricio Campa‐Álvarez, Diana Ascencio, Miguel Vallebueno‐Estrada, Eduardo González‐Orozco, Christian Eduardo Martínez‐Guerrero, Rafael Montiel, Alexander DeLuna   +6 more
wiley   +1 more source

Avidin is evolutionarily conserved in fish but dispensable for development and resistance against Streptococcus agalactiae in zebrafish

FEBS Open Bio, EarlyView.
The presence of biotin‐binding avidin proteins in fish and their biological significance are poorly characterized. We cataloged fish avidins and demonstrate that they are widely present and evolutionarily conserved. We created avd knockout zebrafish and show that zebavidin is dispensable for development and that resistance of avd knockout embryos in ...
Anni K. Saralahti, Markus J. T. Ojanen, Mataleena Parikka, Otto Kauko, Mika Rämet, Vesa P. Hytönen   +5 more
wiley   +1 more source

GelMA‐based 3D spheroids recapitulate transcriptomic and functional hallmarks of myeloid sarcoma

FEBS Open Bio, EarlyView.
GelMA 5% hydrogels support the formation of myeloid leukemia spheroids that recapitulate MS‐specific features, including G1 arrest, apoptosis, and ECM‐driven transcriptomic reprogramming. The 3D model mimicked soft‐tissue‐like stiffness and oxygen conditions, and transcriptomic convergence with primary MS samples confirmed its utility as a preclinical ...
Nicolas Germain, Elise Buret, Le Hoang Thanh Nguyen, Marion Cocheteux, Nicolas Touya, Mélanie Dhayer, Romain Dubois, Frank Lafont, Sebastien Janel, Patrice Maboudou, Steve Lancel, Philippe Marchetti   +11 more
wiley   +1 more source

A Clinical Study Of Physical, Behavioural And Cognitive Phenotype In Fragile X Syndrome

Annals of Indian Academy of Neurology, 2001
Fragile X Syndrome is a common cause of mental retardation and the first disorder detected to have the novel trinucleotide repeat mutation. In this study, a detailed evaluation of physical, cognitive, and behavioral phenotype was carried out.
Girimaji Sathish Chandra. R, Shoba V, Manjunath KR, Chethan GK, Srinath S, Sheshdri Sheakar. P   +5 more
doaj  

Behavioural phenotype of SYNGAP1‐related intellectual disability

Journal of Intellectual Disability Research
AbstractBackgroundSYNGAP1‐ related intellectual disability (SYNGAP1‐ID) is a rare genetic disorder presenting with intellectual disability (ID), epilepsy, maladaptive behaviours and communication challenges. To date, few studies have assessed the context in which these maladaptive behaviours occur.
M P, Kranak, G, Rooker, C, Smith-Hicks
openaire   +2 more sources

Type I interferons modulate autophagy to shape gemcitabine response in pancreatic cancer cells

FEBS Open Bio, EarlyView.
Type I interferons differentially modulate autophagy and the response of pancreatic cancer cells to gemcitabine. IFNα2b stimulates autophagic flux and protects cells from gemcitabine‐induced cell death, contributing to chemoresistance. In contrast, IFNβ1a inhibits autophagosome formation and enhances gemcitabine‐induced cell death, resulting in ...
Lucy E. Bonilla, Martín M. Ledesma, Santiago A. Behr, Matías A. Pibuel, María L. Palanek, Daniel H. Grasso, Maria N. Garcia, Juan Garona, Silvina L. Lompardía, Elida Álvarez, Daniela L. Papademetrio   +10 more
wiley   +1 more source

Behavioural phenotypes

European Psychiatry, 2002
L.M.G. Curfs, S. Tuinier, W.M.A. Verhoeven   +2 more
openaire   +1 more source

Identification and characterization of a gene conferring stress resistance in Escherichia coli and cyanobacteria

FEBS Open Bio, EarlyView.
Functional screening identified PcSyn14890, a cyanobacteria‐specific protein that enhances growth and stress resistance in E. coli and Synechocystis PCC6803. Although we expected it to function as a molecular chaperone, it was unable to protect against thermal aggregation of GAPDH.
Akiyo Yamada, Takaaki Tanaka, Manaka Uehara, Keigo Nakano, Ken Morishima, Rintaro Inoue, Masaaki Sugiyama, Masafumi Yohda   +7 more
wiley   +1 more source

Hydrogel platforms for 3D cardiac tissue engineering and fibrotic disease modelling

FEBS Open Bio, EarlyView.
Hydrogel‐based cardiac tissue models are advancing our understanding of heart health and disease. By incorporating electrical conductivity, aligned structures, and tunable mechanical properties, these platforms better replicate the complex environment of native heart tissue.
Harrison Porritt, Annika Winbo, Jenny Malmström   +2 more
wiley   +1 more source