Dopa-responsive dystonia and hyperprolactinaemia : a novel association in two sisters [PDF]
Dopa-Responsive Dystonia (DRD) is a rare hereditary condition of childhood-onset dystonia which responds dramatically to treatment with levodopa. It was first described in 1971 as a "hereditary progressive basal ganglia disease with marked diurnal ...
Cachia, Mario J., Galea, Janabel
core
Cardiac remodeling and arrhythmia in a mouse model of Depdc5 haploinsufficiency
Abstract Objective Some ion channel genes linked to developmental and epileptic encephalopathy (DEE) are also linked to cardiac arrhythmia, leading to the hypothesis that predisposition to cardiac arrhythmias may contribute to the complex disease presentation of DEE and possibly to the mechanism of sudden unexpected death in epilepsy.
Roberto Ramos‐Mondragon +9 more
wiley +1 more source
Assignments of backbone 1H, 13C and 15N resonances in H-Ras (1–166) complexed with GppNHp at physiological pH [PDF]
The small GTPase Ras is an important signaling molecule acting as a molecular switch in eukaryotic cells. Recent findings of global conformational exchange and a putative allosteric binding site in the G domain of Ras opened an avenue to understanding ...
Kovriguine, Evgueni, O\u27Connor, Casey
core +1 more source
A biomimetic artificial cell model platform integrating in situ synthetic biology is developed, which can show antitumor drug response to simulated cells derived from cell membranes of different tumor cells. It has excellent performance in indicating the curative effect of drugs at the cellular level and provides a novel approach for enhancing the ...
Chaoyang Guan +9 more
wiley +1 more source
Determination of total potentially available nucleosides in bovine milk [PDF]
Bovine colostrum and milk samples were collected from two herds over the course of the first month post-partum, pooled for each herd by stage of lactation and total potentially available nucleosides were determined.
Gill, Brendon D. +2 more
core +2 more sources
(A) Mount number, (B) mount latency, (C) intromission number, and (D) intromission latency are the parameters of sexual behavior. Met = metformin. D100 = 100 Donkwa. D90G10 = 90% Donkwa + 10% Goron‐Tula. D85G15 = 85% Donkwa + 15% Goron‐Tula. D80G20 = 80% Donkwa + 20% Goron‐Tula. The mean ± standard error of the mean (SEM) expressed the results. *Values
O. T. Mamukuyomi +2 more
wiley +1 more source
Aquatic and semiaquatic mammals have the capacity of breath hold (apnea) diving. Northern elephant seals (Mirounga angustirostris) have the ability to perform deep and long duration dives; during a routine dive, adults can hold their breath for 25 min ...
Myrna eBarjau Perez-Milicua +3 more
doaj +1 more source
Dietary and biomarker‐guided strategies as supportive measures in the fragile X syndrome
Abstract The fragile X syndrome (FXS) is an inherited neurodevelopmental disorder that primarily affects males, often resulting in an IQ below 55, while about two‐thirds of females also experience intellectual disability. Physical features may include an elongated face, prominent ears, finger joint laxity, and enlarged testes in males.
Jailan E. El Halawani, Reem R. AlOlaby
wiley +1 more source
Association of NGF receptors with membrane rafts in PC12 cells : a thesis presented in partial fulfilment of the requirements for the degree of Master of Science in Biochemistry at Massey University [PDF]
Nerve Growth Factor (NGF) signal transduction is involved in the survival, differentiation and maintenance of neurons through the receptors TrkA and p75NTR. These receptors activate downstream protein kinase cascades that regulate cell survival.
Clements, Shona Marie
core
Nexinhib20 Inhibits Neutrophil Adhesion and β2 Integrin Activation by Antagonizing Rac-1–Guanosine 5′-Triphosphate Interaction [PDF]
Wei Liu +13 more
openalex +1 more source

