Results 191 to 200 of about 1,835,894 (312)

Exploring genetic variants in premature ovarian insufficiency: a cohort-based investigation of monogenic etiologies. [PDF]

J Endocr Soc
Sassi A, Peyrassol X, Marangoni M, Gheldof A, Van Dooren S, Alvaro Mercadal B, Pintiaux A, Antoine C, Abramowicz M, Désir J, Delbaere A.   +10 more
europepmc   +1 more source

Lysyl oxidase (LOX)‐mediated remodeling of the extracellular matrix

FEBS Letters, EarlyView.
The lysyl oxidase (LOX) family of enzymes drives extracellular matrix remodeling by oxidizing collagen, elastin, and fibronectin, promoting covalent cross‐link formation. This activity regulates tissue architecture and mechanical properties, while its dysregulation contributes to fibrosis, cardiovascular disease, glaucoma, connective tissue disorders ...
Fernando Rodríguez‐Pascual, Marta Navarro‐Gutiérrez, Verónica Romero‐Albillo, Raquel Jiménez‐Sánchez   +3 more
wiley   +1 more source

Disease associations for rare immune genetic variants require statistical or rule-based support. [PDF]

J Hum Immun
Gray PE, Tangye SG, Kirk EP.
europepmc   +1 more source

Smaller is better: nanobodies meet NMR

FEBS Letters, EarlyView.
Nanobodies are single‐domain antigen‐binding fragments derived from camelid heavy chain antibodies. Their small size, high stability, and exceptional specificity make nanobodies uniquely useful probes for NMR studies of protein dynamics, transient conformational states, and protein–protein interactions.
Oleg Y. Dmitriev
wiley   +1 more source

Functional impact of PCSK9 variants on LDL uptake in a knockout hepatic model. [PDF]

PLoS One
Li H, Liu H, Xu W, Zeng Y, Huang P, Guo J, Cai B, Chen Y, Lin Y, Zhang C.   +9 more
europepmc   +1 more source

Invisible but not inaccessible—Revealing transient oligomers formed by intrinsically disordered proteins with solution NMR and complementary methods

FEBS Letters, EarlyView.
Transient oligomers formed by intrinsically disordered proteins may be ‘invisible’ to direct detection yet remain accessible to solution NMR through equilibrium‐exchange measurements and pressure‐jump experiments. Complementary methods report on mass, stoichiometry, selected distance distributions, morphology, and internal packing.
Martin D. Gelenter, Ad Bax
wiley   +1 more source

The Genetic Landscape of Pompe Disease in the Middle East, North Africa, and Turkey (MENAT Region): A Systematic Review of GAA Variants and Genotype-Phenotype Correlation. [PDF]

Int J Mol Sci
Alantry AK, Hamdan SZ, Kubbara EA, Rezk MY, Mohamedain A, Mohamedain EHS, Makki YR, Kamal E, Hamdan HZ.   +8 more
europepmc   +1 more source

DNA ligase LigE increases bacterial transformation with damaged extracellular DNA

FEBS Letters, EarlyView.
The DNA ligase LigE from the naturally competent Gram‐negative bacterium Neisseria gonorrhoaea increases transformation with cut extracellular DNA. This process is ATP‐dependent and relies on the catalytic activity of LigE; it also requires that LigE contains an intact periplasmic localisation sequence, indicating that ligE functions in the periplasm ...
Jolyn Pan, Avi Singh, Shrawani Weralupe Gamladdalage, Joanna Hicks, Adele Williamson   +4 more
wiley   +1 more source

The cassette exons of α-synuclein play distinct roles in membrane remodelling and membrane-mediated amyloid formation. [PDF]

Chem Sci
Dewison KM, Chakraborty P, Brockwell DJ, Radford SE.   +3 more
europepmc   +1 more source

Going viral − Virus‐targeting nanobodies for research, diagnostics and therapy

FEBS Letters, EarlyView.
The increasing prevalence of viral diseases represents a major threat for global human health. Nanobodies, small binding fragments derived from camelid heavy‐chain antibodies, offer versatile tools for viral research, diagnostics, and antiviral therapy.
Domenic Ebert, Ulrich Rothbauer
wiley   +1 more source