Results 41 to 50 of about 483,969 (264)

Early-Onset Epileptic Encephalopathy with Phospholipase C Beta 1 Deficiency

open access: yesPediatric Neurology Briefs, 2010
The clinical presentation and evolution of epileptic encephalopathy associated with a loss-of-function mutation in the phospholipase C-b 1 gene are reported in a male infant with infantile spasms treated at the University of Birmingham School of Medicine,
J Gordon Millichap
doaj   +1 more source

Dementia-related genetic variants in an Italian population of early-onset Alzheimer’s disease

open access: yesFrontiers in Aging Neuroscience, 2022
Early-onset Alzheimer’s disease (EOAD) is the most common form of early-onset dementia. Although three major genes have been identified as causative, the genetic contribution to the disease remains unsolved in many patients.
Anna Bartoletti-Stella   +20 more
doaj   +1 more source

Enteropathogenic E. coli shows delayed attachment and host response in human jejunum organoid‐derived monolayers compared to HeLa cells

open access: yesFEBS Letters, EarlyView.
Enteropathogenic E. coli (EPEC) infects the human intestinal epithelium, resulting in severe illness and diarrhoea. In this study, we compared the infection of cancer‐derived cell lines with human organoid‐derived models of the small intestine. We observed a delayed in attachment, inflammation and cell death on primary cells, indicating that host ...
Mastura Neyazi   +5 more
wiley   +1 more source

Feline Morbillivirus Infection in Domestic Cats: What Have We Learned So Far?

open access: yesViruses, 2021
Feline morbillivirus (FeMV) was identified for the first time in stray cats in 2012 in Hong Kong and, since its discovery, it was reported in domestic cats worldwide.
Eliana De Luca   +3 more
doaj   +1 more source

Organoids in pediatric cancer research

open access: yesFEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

Spatiotemporal and quantitative analyses of phosphoinositides – fluorescent probe—and mass spectrometry‐based approaches

open access: yesFEBS Letters, EarlyView.
Fluorescent probes allow dynamic visualization of phosphoinositides in living cells (left), whereas mass spectrometry provides high‐sensitivity, isomer‐resolved quantitation (right). Their synergistic use captures complementary aspects of lipid signaling. This review illustrates how these approaches reveal the spatiotemporal regulation and quantitative
Hiroaki Kajiho   +3 more
wiley   +1 more source

Dystonic hyperkinesias in children of early childhood

open access: yesАнналы клинической и экспериментальной неврологии, 2017
Dystonic hyperkinesias in children of early childhood may beinvolved in the structure of many syndromes that have differentetiological factors, prognosis, and treatment.
M. Yu. Bobylova   +7 more
doaj   +1 more source

New Insights into Genetics of Endometriosis—A Comprehensive Literature Review

open access: yesDiagnostics, 2023
This comprehensive review explores the genetic contributions to endometriosis and their potential impact on improving diagnostic techniques. The review begins by defining endometriosis and discussing its prevalence, emphasizing the need for a deeper ...
Diana Maria Chiorean   +6 more
doaj   +1 more source

By dawn or dusk—how circadian timing rewrites bacterial infection outcomes

open access: yesFEBS Letters, EarlyView.
The circadian clock shapes immune function, yet its influence on infection outcomes is only beginning to be understood. This review highlights how circadian timing alters host responses to the bacterial pathogens Salmonella enterica, Listeria monocytogenes, and Streptococcus pneumoniae revealing that the effectiveness of immune defense depends not only
Devons Mo   +2 more
wiley   +1 more source

Neurodegeneration with brain iron accumulation

open access: yesАнналы клинической и экспериментальной неврологии, 2017
Neurodegeneration with brain iron accumulation (NBIA) is aclinically and genetically heterogeneous group of hereditary (predominantlyautosomal recessive) progressive disorders of the CNSwith a common feature of iron accumulation in basal ganglia ...
G. E. Rudenskaya, E. Yu. Zakharova
doaj   +1 more source

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