Results 61 to 70 of about 444,809 (263)

Cutaneous Xanthomas in a Young Boy – Markers of Homozygous Familial Hypercholesterolemia

open access: yesIndian Pediatrics Case Reports
Background: Homozygous familial hypercholesterolemia (HoFH) is a rare and potentially devastating, genetic cause of elevated lipid levels in children. Clinical Description: A 4-year-old boy presented with small, painless, nondischarging, nonpruritic, and
Gourav Kumar Goyal   +3 more
doaj   +1 more source

Reduction of selection pressure of herbicides - options and limits for blackgrass management by using clethodim in oilseed rape in the presence of the Leu1781 haplotype

open access: yesJulius-Kühn-Archiv, 2014
In field experiments the control of blackgrass (Alopecurus myosuroides, Huds.) in oilseed rape using clethodim (Select EC 240) and cycloxydim (Focus Ultra) with and without subsequent treatments with propyzamide (Kerb FLO) was tested at 6 locations in ...
Wagner, Jean   +4 more
doaj   +1 more source

homozygous truncating variant

open access: yes, 2023
: We report a newborn patient with trichothiodystrophy-3 (TTD3) caused by a novel homozygous variant in the GTF2H5 gene. His severe phenotype included congenital ichthyosis, complex posterior cranial fossa anomaly, life-threatening infections, bilateral ...
Ugo Sorrentino   +17 more
core   +1 more source

Assessing the Sensitivity and the Clinical Impact of the 2023 American College of Rheumatology/EULAR Classification Criteria in Obstetric Antiphospholid Syndrome: Findings From a Multicenter Italian Cohort With a Long‐Term Follow‐Up

open access: yesArthritis Care &Research, EarlyView.
Objective The aim of this study was to evaluate the sensitivity of the 2023 American College of Rheumatology (ACR)/EULAR classification criteria for antiphospholipid syndrome (APS) in a real‐world cohort of women diagnosed with primary obstetric APS (oAPS) and to assess their ability to identify patients at risk of future pregnancy complications ...
Francesca Ruffilli   +10 more
wiley   +1 more source

Wnt5a increases cardiac gene expressions of cultured human circulating progenitor cells via a PKC delta activation [PDF]

open access: yes, 2009
Background: Wnt signaling controls the balance between stem cell proliferation and differentiation and body patterning throughout development. Previous data demonstrated that non-canonical Wnts (Wnt5a, Wnt11) increased cardiac gene expression of ...
Leitges, Michael   +11 more
core   +2 more sources

Myogenic Fusogen‐Engineered Lipid Nanoparticles Enhance mRNA Delivery in Skeletal Muscle

open access: yesAdvanced Functional Materials, EarlyView.
This study reports a biomimetic strategy of engineering full‐length Myomaker, a muscle‐specific fusogen, into lipid nanoparticles (LNPs) to harness the native myoblast fusion capability for skeletal muscle mRNA delivery. The resulting Mymk‐LNPs enhance transfection in differentiating myocytes and enable Cre‐mediated reporter activation in injured ...
Fangyu Zhang   +18 more
wiley   +1 more source

Zwitterionic Polymer Coating Enabled Chronic Dopamine Sensing and Electrophysiology Recording in Free‐Moving Mice

open access: yesAdvanced Healthcare Materials, EarlyView.
Application of a zwitterionic poly(sulfobetaine methacrylate) (PSB) coating to microelectrode arrays and Ag/AgCl reference electrodes effectively inhibits biofouling and structural degradation. This strategy successfully enables simultaneous, long‐term electrophysiological recording and dopamine sensing in freely behaving mice, facilitating ...
Bingchen Wu   +5 more
wiley   +1 more source

Esterified Cholesterol Conjugates Enable LNP‐Mediated mRNA Delivery to the Blood–Brain Barrier Following Intravenous Administration

open access: yesAdvanced Materials, EarlyView.
A cholesterol‐conjugated lipid library enabled the identification of a ligand‐free LNP platform for efficient mRNA delivery to brain endothelial cells via systemic administration. This platform achieves selective BBB targeting without disrupting barrier integrity, and enables modulation of neuroinflammation and vascular function without requiring trans‐
Zeru Tian   +7 more
wiley   +1 more source

Heterozygous/Homozygous domeMESOGFP.

open access: yes
Heterozygous cross of UAS TraF; + x domeMESOGFP and homozygous cross of UAS TraF;domeMESOGFP x domeMESOGFP, separated by sex. (A) Raw total nuclei count of heterozygous females(n = 17) and homozygous females(n = 16) are shown to have no significant ...
Alexandra Dvoskin (24376135)   +6 more
core   +1 more source

A neonate with homozygous protein C deficiency with a homozygous arg178trp mutation

open access: yes, 2008
PubMedID: 18799939Homozygous protein C deficiency affects approximately 1/400,000 to 1/1,000,000 live births. Homozygous protein C deficiency is associated with catastrophic and fatal purpura fulminans-like or thrombotic complications and disseminated ...
Ozcan K.   +6 more
core   +1 more source

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