Results 231 to 240 of about 248,138 (311)

<i>FIR/PUF60</i>: Multifunctional Molecule Through RNA Splicing for Revealing the Novel Disease Mechanism and Effective Individualized Therapies. [PDF]

Int J Mol Sci
Matsushita K, Kitamura K, Tanaka N, Kobayashi S, Suenaga Y, Hoshino T.   +5 more
europepmc   +1 more source

When Biology Meets Medicine: A Perspective on Foundation Models

Advanced Intelligent Discovery, EarlyView.
Artificial intelligence, and foundation models in particular, are transforming life sciences and medicine. This perspective reviews biological and medical foundation models across scales, highlighting key challenges in data availability, model evaluation, and architectural design.
Kunying Niu, Yuxing Wang, Limin Zou, Jing Huang   +3 more
wiley   +1 more source

Three intronic variants altering RNA splicing were identified in the CLCN5 gene by minigene assay. [PDF]

BMC Med Genomics
Qiao D, Liu X, Bottillo I, Zhang R, Shao L.   +4 more
europepmc   +1 more source

A Robust Deep Temporal Causal Discovery Platform for Single‐Cell Gene Regulatory Network Reconstruction

Advanced Intelligent Discovery, EarlyView.
scTIGER2.0 is a deep‐learning framework that infers gene regulatory networks from single‐cell RNA sequencing data. By integrating correlation, pseudotime ordering, deep learning and bootstrap‐based significance testing, it reduces false positives and reveals directional gene interactions.
Nishi Gupta, Madison Dautle, Shaoqiang Zhang, Yong Chen   +3 more
wiley   +1 more source

RNA splicing patterns contribute to burst size variation among HIV-1-infected Jurkat cell clones. [PDF]

J Virol
Gopal K, Burnett C, Kharytonchyk S, Emery A, Atindaana E, Swanstrom R, Kidd JM, Telesnitsky A.   +7 more
europepmc   +1 more source

Therapeutic Silencing of Tmprss6 Reduces Iron‐Induced Inflammation and Prolongs Survival in MDS Mice

American Journal of Hematology, EarlyView.
ABSTRACT Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal hematopoietic disorders characterized by ineffective hematopoiesis, cytopenias, and an increased risk of progression to acute myeloid leukemia (AML). Despite advances in supportive and targeted therapies, disease‐modifying interventions remain limited.
Shahla Vilcassim, Nuttanan Pholngam, Rattanawan Thubthed, Tiwaporn Nualkaew, Saovaros Svasti, Pornthip Chaichompoo, Kai Kysenius, Peter J. Crouch, Sibylle Dames, Mona Eisermann, Alberto Martinez, Ute Schaeper, Jim Vadolas, George Grigoriadis   +13 more
wiley   +1 more source

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

Nuclear 2'-<i>O</i>-methylation regulates RNA splicing through its binding protein FUBP1. [PDF]

Sci Adv
Gao B, Jiang B, Zou Z, Liu B, Liu W, Chen L, Zhang L, He C.   +7 more
europepmc   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Clarification of the clinical significance of an intron variant in a case of Peutz-Jeghers syndrome with abnormal RNA splicing of STK11. [PDF]

Mol Cytogenet
Ishikawa A, Gotoh M, Ushiama M, Sakamoto H, Tanabe N, Watanabe T, Cho H, Yamada M, Sugano K, Shiraishi K, Hirata M, Yoshida T, Sakurai A.   +12 more
europepmc   +1 more source