Results 151 to 160 of about 1,423,917 (266)

Hemophilia and hereditary angioedema: parallel therapeutic advances in genetic diseases of serine protease pathways. [PDF]

Res Pract Thromb Haemost
Cugno M, Mannucci PM.
europepmc   +1 more source

Three phosphatase families form a community: The phosphohydrolases that act upon inositol pyrophosphates

FEBS Letters, EarlyView.
Inositol pyrophosphates are energy‐rich signaling molecules that perform critical functions in cells. Three different families of phosphatases hydrolyze the β phosphate of the inositol pyrophosphate molecules: two have narrow specificities and one is promiscuous.
Ronda J. Rolfes
wiley   +1 more source

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases. [PDF]

Genet Med Open
Torella A, Morleo M, Spampanato C, Castello R, Zanobio M, Piluso G, Di Letto P, Onore ME, Rahman SI, Musacchia F, Pinelli M, Vitiello G, De Riso G, Selicorni A, Mariani M, Daolio C, Capra V, Scala M, Nardecchia F, Galosi S, Mastrangelo M, Manti F, Milani D, Romano C, Greco D, Ciaccio C, D'Arrigo S, De Laurentiis A, Coppola A, Zollino M, Pasquetti D, L'Erario FF, Tummolo A, Santoro C, Garavelli L, Marini C, Bigoni S, Tirozzi A, Cetrangolo V, Parenti G, Di Bernardo D, Peron A, Maitz S, Accogli A, Cappuccio G, Banfi S, Casari G, Ballabio A, Brunetti-Pierri N, Nigro V, Telethon Undiagnosed Disease Study group.   +50 more
europepmc   +1 more source

Modelling stem cell differentiation related processes—A practical overview for biologists

FEBS Letters, EarlyView.
Stem cell differentiation is complex and difficult to control experimentally. This review introduces suitable computational modelling approaches that can support stem cell research, from mechanistic ODE and abstract models to multiscale and deep learning methods.
Ricco Zeegelaar, Xinqi Yan, Lucas F. Jansen Klomp, Stefano Schivo, Janine N. Post   +4 more
wiley   +1 more source

Editorial - Patient perspectives on new therapies for genetic diseases. [PDF]

Med Genet
Elbracht M, Zweier C, Krey-Grauert I.
europepmc   +1 more source

Design and analysis strategies for robust microbiome ageing research

FEBS Letters, EarlyView.
The gut microbiome changes with age and associates with age‐related morbidity and mortality, establishing it as a potential biomarker and intervention target for ageing. Realising this potential requires methodological rigour, yet distinguishing biological signals from methodological artefacts remains challenging across cohorts. This review provides an
Mark Olenik, İsmail Güderer, Yi Wang, Tayyaba Alvi, Prasoon Pandey, Handan Melike Dönertaş   +5 more
wiley   +1 more source

Delivery of mRNA Therapeutics Beyond Infectious Diseases: Design Innovations and Applications in Oncology, Cardiovascular, and Rare Genetic Diseases. [PDF]

Pharmaceuticals (Basel)
Akkineni S, Gulani M, Kouzi SA, D'Souza MJ, Uddin MN.   +4 more
europepmc   +1 more source

Decoding the dynamic extracellular matrix in cancer—3D models and bioscaffolds rewire the rules of tumor progression

FEBS Letters, EarlyView.
Cancer progression is regulated by the dynamic matrix code of the tumor microenvironment, which influences cellular behavior and disease development. Importantly, matrix remodeling in three‐dimensional cancer models more accurately reflects in vivo conditions compared to conventional two‐dimensional systems.
Sylvia Mangani, Konstantinos Spanopoulos, Zoi Piperigkou, Nikos K. Karamanos   +3 more
wiley   +1 more source

TikTok as a Platform for Patient Education and Health Information in Rare Genetic Diseases: Cross-Sectional Study. [PDF]

JMIR Form Res
Wahman JM, Hijazi RM, Abdelhady HG.
europepmc   +1 more source

Investigating transcription factor dynamics in health and disease using FRAP

FEBS Letters, EarlyView.
FRAP analysis of GFP‐tagged transcription factors reveals how molecular mobility and target engagement change in response to drug treatment. By combining live‐cell imaging, quantitative model fitting, and statistical analysis, this approach uncovers transcription factor dynamics linked to disease mechanisms, providing a powerful framework for ...
Kannan Govindaraj, Carolina Vazquez Garzon, Jose Joaquin Velasco, Janine N. Post   +3 more
wiley   +1 more source