Results 281 to 290 of about 1,259,204 (342)

Between hope and reality: treatment of genetic diseases through nucleic acid-based drugs. [PDF]

Commun Biol
Baylot V, Le TK, Taïeb D, Rocchi P, Colleaux L.   +4 more
europepmc   +1 more source

Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms.

, 1992
Takayuki Takahashi, Mariko Suchi, Robert J. Desnick, Goro Takada, Edward H. Schuchman   +4 more
openalex   +1 more source

Identification of inhibitors of the Salmonella FraB deglycase, a drug target

FEBS Open Bio, EarlyView.
A high‐throughput screen was used to identify inhibitors of Salmonella FraB, a drug target. Characterization of top hits (identified after an additional counter screen) revealed that some triazolidines, thiadiazolidines, and triazolothiadiazoles are mixed‐type inhibitors of FraB.
Jamison D. Law, Yuan Gao, Sravya Kovvali, Pankajavalli Thirugnanasambantham, Vicki H. Wysocki, Brian M. M. Ahmer, Venkat Gopalan   +6 more
wiley   +1 more source

Proteome-scale prediction of molecular mechanisms underlying dominant genetic diseases

, 2023
Badonyi M, Marsh JA.
europepmc   +1 more source

Beyond digital twins: the role of foundation models in enhancing the interpretability of multiomics modalities in precision medicine

FEBS Open Bio, EarlyView.
This review highlights how foundation models enhance predictive healthcare by integrating advanced digital twin modeling with multiomics and biomedical data. This approach supports disease management, risk assessment, and personalized medicine, with the goal of optimizing health outcomes through adaptive, interpretable digital simulations, accessible ...
Sakhaa Alsaedi, Xin Gao, Takashi Gojobori   +2 more
wiley   +1 more source

Acacetin reduces endoplasmic reticulum stress through the P‐eNOS/PERK signaling pathway to attenuate MGO‐induced vascular endothelial cell dysfunction

FEBS Open Bio, EarlyView.
We investigated a potential protective effect of acacetin, a naturally occurring flavonoid, against methylglyoxal (MGO)‐induced endothelial dysfunction in human umbilical vein endothelial cells and its mechanism of action. Acacetin can could inhibit MGO‐induced intracellular calcium ion influx, enhance the expression levels of phosphorylated ...
Zhen Zhang, Kaien Hu, Zhaohui Fang, Sihai Wang, Jie Chen, Dengke Yin, Caiyun Zhang, Gefei Ma   +7 more
wiley   +1 more source

Pangenome graphs improve the analysis of structural variants in rare genetic diseases. [PDF]

Nat Commun
Groza C, Schwendinger-Schreck C, Cheung WA, Farrow EG, Thiffault I, Lake J, Rizzo WB, Evrony G, Curran T, Bourque G, Pastinen T.   +10 more
europepmc   +1 more source

Red blood cells could protect miRNAs from degradation or loss thanks to Argonaute 2 binding

FEBS Open Bio, EarlyView.
The present work investigates the presence and the stability of miRNAs into RBCs, both native and engineered. The observed stability is due to the Ago2 bound resulting in minimal RISC. Indeed, if the miRNA‐Ago2 complex is present, miRNAs are protected from release or degradation and they are biologically active. Thus, RBCs can act as miRNA carriers for
Elena Perla, Faiza Abbas, Luigia Rossi, Mauro Magnani, Sara Biagiotti   +4 more
wiley   +1 more source

Exploring the similarity between genetic diseases improves their differential diagnosis and the understanding of their etiology. [PDF]

Eur J Hum Genet
Valentini G.
europepmc   +1 more source

Characterisation of the role played by ELMO1, GPR141 and the intergenic polymorphism rs918980 in Fuchs' dystrophy in the Indian population

FEBS Open Bio, EarlyView.
This study reports the upregulation of ELMO1 and GPR141 in human Fuchs' endothelial corneal dystrophy (FECD) corneal endothelium and ultraviolet A‐induced FECD mice model. A genetic association of an intergenic single nucleotide polymorphism rs918980 present between both genes is observed with FECD in the Indian population.
Susmita Sharma, Samar Kumar Basak, Sujata Das, Debasmita Pankaj Alone   +3 more
wiley   +1 more source