Results 131 to 140 of about 238,882 (304)

Enabling precision medicine in neonatology, an integrated repository for preterm birth research. [PDF]

open access: yes, 2018
Preterm birth, or the delivery of an infant prior to 37 weeks of gestation, is a significant cause of infant morbidity and mortality. In the last decade, the advent and continued development of molecular profiling technologies has enabled researchers to ...
Anderson, Rebecca   +21 more
core   +1 more source

Living Microbial Drugs

open access: yesChemistry – A European Journal, EarlyView.
The introduction outlines the review scope. Microbial cell factories as living drugs cover host–gut microbiota, bacteria, yeast, and other microbial systems, with comparative host advantages. Engineering strategies include synthetic circuits, quorum sensing, and memory.
Cemile Elif Özçelik   +3 more
wiley   +1 more source

Combinatorial expression of glial transcription factors induces Schwann cell‐specific gene expression in mouse embryonic fibroblasts

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Background Schwann cells provide peripheral nerve trophic support, myelinate axons, and assist in repair. However, Schwann cell repair capacity is limited by chronic injury, disease, and aging. Schwann cell reprogramming is a cellular conversion strategy that could provide a renewable cell supply to repair injured nerves.
Lauren Belfiore   +7 more
wiley   +1 more source

Expression of mutant TIE2 p.L914F during mouse development causes embryonic lethality and defects in vascular remodeling

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Background Sporadic venous malformation (VM) is associated with the hyperactivating p.L914F mutation in TIE2, a receptor tyrosine kinase essential for vascular development. This mutation is not found in hereditary VM, suggesting incompatibility with life when expressed during early vascular development.
Lindsay J. Bischoff   +6 more
wiley   +1 more source

Vaginal microbiome and neoplasms of the female reproductive system: a marker or a factor of influence?

open access: yesРепродуктивная эндокринология
The study of the human microbiome is one of the most pertinent areas of science and medicine today. The impact of changes in the microbiome is widely discussed in the context of new approaches to the diagnosis, treatment and prevention of many diseases ...
V.V. Artyomenko   +3 more
doaj   +1 more source

A multi-component prime-boost vaccination regimen with a consensus MOMP antigen enhances Chlamydia trachomatis clearance [PDF]

open access: yes, 2016
Badamchi-Zadeh, A   +9 more
core   +1 more source

Self‐limited neonatal epilepsy with 2q24.3 duplications: Case series and literature review

open access: yesEpileptic Disorders, EarlyView.
Abstract Objective To clarify the phenotypic spectrum associated with duplications involving the 2q24.3 region, which includes a cluster of genes encoding sodium channel subunits (SCN1A, SCN2A, SCN3A, SCN7A, and SCN9A). Methods We reviewed our research database for patients with epilepsy and 2q24.3 duplication and performed thorough phenotyping.
Saba Al Rawahi, Kenneth A. Myers
wiley   +1 more source

KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan   +20 more
wiley   +1 more source

Women with epilepsy: Evidence‐based counseling across the lifespan

open access: yesEpilepsia, EarlyView.
Abstract Women with epilepsy (WWE) encounter distinct and evolving challenges across the lifespan that require clinical management extending beyond seizure control alone. Although awareness of sex‐specific aspects of epilepsy has increased, important gaps remain in their integration into routine care.
Barbara Tettenborn   +7 more
wiley   +1 more source

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2‐developmental and epileptic encephalopathy

open access: yesEpilepsia, EarlyView.
Overview of the multimodal experimental approach integrating clinical, genetic, in silico, and in vitro investigations. Clinical: Representative EEG recording setup and ictal traces from affected patients. Genetic: Pedigrees for Families A and B highlighting the inheritance of the four identified SLC12A5 variants (A1, A2, B1, B2).
Mira Hamze   +19 more
wiley   +1 more source

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