Results 191 to 200 of about 142,271 (283)

Across species: A comparative perspective on red cell homeostasis and its influence on our understanding of human physiology and disease

British Journal of Haematology, EarlyView.
This review highlights how studies on animal red cells have enriched our understanding of the behaviour of those from humans. A comparative perspective has enhanced our knowledge of human red cell pathophysiology Summary This review emphasises how studies on animal red cells have enriched our understanding of the behaviour of those from humans.
Kathleen M. Connolly, Pengyi Ding, Rasiqh Wadud, David C. Rees, John N. Brewin, John S. Gibson   +5 more
wiley   +1 more source

The First Heterozygous <i>TWNK</i> Nonsense Mutation Associated with Progressive External Ophthalmoplegia: Evidence for a New Piece in the Puzzle of Mitochondrial Diseases. [PDF]

Biomolecules
Lopergolo D, Berti G, Gallus GN, Bianchi S, Santorelli FM, Malandrini A, De Stefano N.   +6 more
europepmc   +1 more source

A pathogenic nonsense mutation (c.1522C>T) of the MYBPC3 gene is implicated with hypertrophic cardiomyopathy. [PDF]

ESC Heart Fail, 2023
Ni E, Wang T, Zhang X, Xie H.
europepmc   +1 more source

Double‐chambered left ventricle in a pediatric patient with tuberous sclerosis complex: A case report

Pediatric Investigation, EarlyView.
Haoxuan Li, Yufei Xie, Qun Wu, Xiaomin Duan, Fangyun Wang, Xin Zhang, Jing Wang   +6 more
wiley   +1 more source

Identification of novel FGFR2::TXLNB Fusion in a polymorphous low‐grade neuroepithelial tumor of the young

Brain Pathology, EarlyView.
We report a novel FGFR2::TXLNB fusion in a child with hippocampal PLNTY. This fusion likely drives tumorigenesis via homodimerization and activation of MAPK/PI3K pathways, expanding PLNTY's molecular spectrum and suggesting a potential therapeutic target.
Sha‐Sha Hu, Tian‐Yuan Tan, Wei Yan, Bo Wang   +3 more
wiley   +1 more source

Combinatorial biosynthesis of novel gentamicin derivatives with nonsense mutation readthrough activity and low cytotoxicity. [PDF]

Front Pharmacol
Yang L, Zhai H, Tian T, Liu B, Ni X, Xia H.   +5 more
europepmc   +1 more source

Combining nonsense mutation suppression therapy with nonsense-mediated decay inhibition in neurofibromatosis type 1. [PDF]

Mol Ther Nucleic Acids, 2023
Osum SH, Oribamise EI, Corbière SMAS, Taisto M, Jubenville T, Coutts A, Kirstein MN, Fisher J, Moertel C, Du M, Bedwell D, Largaespada DA, Watson AL.   +12 more
europepmc   +1 more source

A longitudinal study of neurocognition and behavior in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation [PDF]

, 2019
Ahmed, Alia, Chen, Agnes, Dickson, Patricia, Eisengart, Julie B, King, Kelly, Ou, Li, Rudser, Kyle, Shapiro, Elsa, Whitley, Chester B   +8 more
core   +1 more source

DysRegNet: Patient‐specific and confounder‐aware dysregulated network inference towards precision therapeutics

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Gene regulation is frequently altered in diseases in unique and patient‐specific ways. Hence, personalised strategies have been proposed to infer patient‐specific gene‐regulatory networks. However, existing methods do not scale well because they often require recomputing the entire network per sample.
Johannes Kersting, Olga Lazareva, Zakaria Louadi, Jan Baumbach, David B. Blumenthal, Markus List   +5 more
wiley   +1 more source

The return of metabolism: biochemistry and physiology of glycolysis

Biological Reviews, EarlyView.
ABSTRACT Glycolysis is a fundamental metabolic pathway central to the bioenergetics and physiology of virtually all living organisms. In this comprehensive review, we explore the intricate biochemical principles and evolutionary origins of glycolytic pathways, from the classical Embden–Meyerhof–Parnas (EMP) pathway in humans to various prokaryotic and ...
Nana‐Maria Grüning, Federica Agostini, Camila Caldana, Johannes Hartl, Matthias Heinemann, Markus A. Keller, Jan Lukas Krüsemann, Costanza Lamperti, Carole L. Linster, Steffen N. Lindner, Julia Muenzner, Jens Nielsen, Zoran Nikoloski, Bettina Siebers, Jacky L. Snoep, Hezi Tenenboim, Bas Teusink, Spencer J. Williams, Mirjam M. C. Wamelink, Markus Ralser   +19 more
wiley   +1 more source