Results 121 to 130 of about 3,862,863 (318)
My Life, My Future - Evaluation of Down's Syndrome Scotland Life Story Project [PDF]
, 2019 Background My Life My Future project was developed and delivered by Down’s Syndrome Scotland as an enjoyable family activity with the aim of producing an output that can serve as a valuable communication tool now and in the future.
Mattheys, Kate, Watchman, Karen
core
, 2019 This chapter provides a thorough overview of Beckwith-Wiedemann syndrome, which is considered to be the most common of the overgrowth syndromes and imprinting disorders.
Flavia Cerrato +9 more
core +1 more source
FEBS Open Bio, EarlyView.In normal (nontolerant) cells, CD14 is crucial for both LPS uptake and LPS signaling. In LPS‐tolerant cells, in which LPS‐induced TNF‐α and IFN‐β production is suppressed, there is a dramatic increase in surface CD14 expression. The overexpressed CD14 in LPS‐tolerant cells is responsible for the enhanced LPS uptake without inducing pro‐inflammatory ...
Saeka Nishihara +3 more
wiley +1 more source
FEBS Open Bio, EarlyView.The dual roles of CC and CXC chemokines in distinguishing active, latent, and subclinical tuberculosis were reviewed, along with an evaluation of their potential as diagnostic biomarkers and therapeutic targets to advance precision medicine in tuberculosis management. The graphical abstract was generated with AI assistance (Gemini 3.0).
Xuying Yin, Dangsheng Xiao, Jiezuan Yang
wiley +1 more source
The value of genome-wide analysis in craniosynostosis
Frontiers in GeneticsBackground: This study assessed the diagnostic yield of high-throughput sequencing methods in a cohort of craniosynostosis (CS) patients not presenting causal variants identified through previous targeted analysis.Methods: Whole-genome or whole-exome ...
Alexandra Topa +12 more
doaj +1 more source
Small RNA pathways in mammalian oocytes
FEBS Open Bio, EarlyView.Three distinct small RNA pathways operate in mammalian oocytes: RNAi interference (RNAi), the microRNA (miRNA) pathway, and the PIWI‐associated RNA (piRNA) pathway. These pathways use small RNAs to guide sequence‐specific repression and contribute to oocyte biology by targeting genes and mobile elements or appear insignificant since different ...
Petr Svoboda, Josef Pasulka
wiley +1 more source
Cognitive and social factors in the development of infants with Down syndrome [PDF]
, 2002 Infants and young children with Down syndrome can be engaging and affectionate. It seems that in the early months of life their personal relations may be relatively 'spared' the effects of limitations in their capacities for information-processing.
Oates, John M. +3 more
core
Molecular characterization of covRS mutations in M1UK Streptococcus pyogenes
FEBS Open Bio, EarlyView.Group A Streptococcus (GAS) acquires covRS mutations driving a hypervirulent bacterial state, frequently associated with invasive disease‐like necrotizing fasciitis. We demonstrate that the newly emerged M1UK GAS lineage can also acquire these mutations.
Jarrad Pritchard +12 more
wiley +1 more source
Reply to: vitamin D supplementation and hemoglobin: dosing matters in prevention/treatment of anemia
Nutrition Journal, 2021 Seyyed Mostafa Arabi +3 more
doaj +1 more source
Gorlin Syndrome and Cowden Syndrome
The Keio Journal of MedicineGorlin syndrome and Cowden syndrome are hereditary diseases that are characterized by multiple malignancies, cutaneous symptoms, and various other abnormalities. Both disorders are caused by a mutation of the gene that regulates cell proliferation and growth, resulting in tumorigenesis. Representative mutations are mutation in the patched 1 gene (PTCH1)
Goto, Hiroyuki +2 more
openaire +2 more sources