Results 81 to 90 of about 185,266 (254)

Clinical and genetic profile of achondroplasia: a descriptive study from a tertiary care center in Saudi Arabia

BMC Pediatrics
Background Achondroplasia (ACH) results from a missense mutation in the FGFR3 (fibroblast growth factor receptor 3) gene, representing the primary cause of short stature in humans.
Raghad Alhuthil, Abdulaziz Aldayel, Danah AlHalees, Sarah Murad, Bassam Bin-Abbas, Afaf Alsagheir   +5 more
doaj   +1 more source

From junk to function — How weak selection in eukaryotes builds new parts and drives genomic complexity

FEBS Letters, EarlyView.
How do genomes gain new functional parts? In eukaryotes, which tend to evolve under weak selection, much of the genome is junk. Palazzo and Qiu borrow the logic of Markov chains to show how non‐functional DNA becomes functional through the appearance of intermediate states, which arise due to epistasis, buffering, and biochemical messiness, allowing ...
Alexander F. Palazzo, Yi Qiu
wiley   +1 more source

Remoteness from urban centre does not affect gastric cancer outcomes with established care pathway to specialist centre. [PDF]

Can J Surg, 2023
Kammili A, Morency D, Cools-Lartigue J, Ferri LE, Mueller CL.   +4 more
europepmc   +1 more source

L‐aspartate oxidase provides new insights into fumarate reduction in anaerobic darkness in Synechocystis sp. PCC6803

FEBS Letters, EarlyView.
Synechocystis strains deficient in succinate dehydrogenase (SDH) secrete more succinate than the WT under dark anaerobic conditions, supporting that SDH then primarily acts as SDH, not as a fumarate reductase. L‐aspartate oxidase (Laspo) from Synechocystis is functional under anaerobic conditions, reducing fumarate to succinate.
Kateryna Kukil, Jeffrey A. Hawkes, Cecilia Blikstad, Pia Lindberg   +3 more
wiley   +1 more source

Oesophageal Injury in Traumatic Pneumomediastinum: A Review of the Past 11 Years in an Upper Gastrointestinal Specialist Centre. [PDF]

Cureus, 2022
Shehata Z, Shetty VD.
europepmc   +1 more source

Artificial molecular machines and motors—Design and control of nanoscale motion

FEBS Letters, EarlyView.
Molecules are constantly moving because of thermal fluctuations, but random motion alone cannot be exploited to perform directional tasks. Artificial molecular machines use chemical, electrical, or light energy to bias this motion. Molecular shuttles, rotary motors, and supramolecular pumps illustrate how nanoscale movement can be controlled and ...
Leonardo Andreoni, Alberto Credi
wiley   +1 more source

Retrospective Analysis of Clinical Outcomes of Stereotactic Body Radiation Therapy for Localized Prostate Cancer at an Asian Cancer Specialist Centre. [PDF]

Asian Pac J Cancer Prev, 2023
Pei Yuin JL, Jia Shin JT, Jing CB, Mun TL, Balasubramaniam MA, Ibrahim Wahid DM.   +5 more
europepmc   +1 more source

The heterodimeric amino acid transporters (HAT) of the SLC7/SLC3 family: A structure−function relationships and relevance to human pathology

FEBS Letters, EarlyView.
Heterodimeric amino acid transporters consist of SLC7 and SLC3 family proteins arranged in a conserved structural organization. They regulate nutrient transport across cell membranes, supporting essential cellular functions. These transporters also contribute to xenobiotic/drug uptake and distribution.
Mariafrancesca Scalise, Tiziano Mazza, Raffaella Scanga, Lara Console, Michele Galluccio, Cesare Indiveri   +5 more
wiley   +1 more source

Psychosis in systemic lupus erythematosus (SLE): 40-year experience of a specialist centre. [PDF]

Rheumatology (Oxford), 2021
Abrol E, Coutinho E, Chou M, Hart M, Vincent A, Howard R, Zandi MS, Isenberg D.   +7 more
europepmc   +1 more source

Membrane composition and thermodynamic identity as boundaries of life for synthetic cell research

FEBS Letters, EarlyView.
What makes a cell a cell? The boundary of a living cell is not just a wall. Read as a Markov blanket, the membrane separates internal from external states, generating identity and non‐equilibrium order. Can this identity be rebuilt from scratch in a synthetic cell?
Caterina Presutti, Bert Poolman
wiley   +1 more source