Results 91 to 100 of about 18,132 (269)

STIM1/ORAI1 Loss-of-Function and Gain-of-Function Mutations Inversely Impact on SOCE and Calcium Homeostasis and Cause Multi-Systemic Mirror Diseases

open access: yesFrontiers in Physiology, 2020
Store-operated Ca2+ entry (SOCE) is a ubiquitous and essential mechanism regulating Ca2+ homeostasis in all tissues, and controls a wide range of cellular functions including keratinocyte differentiation, osteoblastogenesis and osteoclastogenesis, T cell
Roberto Silva-Rojas   +2 more
doaj   +1 more source

The Function of Ion Channels and Membrane Potential in Red Blood Cells: Toward a Systematic Analysis of the Erythroid Channelome

open access: yesFrontiers in Physiology, 2022
Erythrocytes represent at least 60% of all cells in the human body. During circulation, they experience a huge variety of physical and chemical stimulations, such as pressure, shear stress, hormones or osmolarity changes.
Marieke von Lindern   +6 more
doaj   +1 more source

Stroke Mimic: A Case of Unilateral Thyrotoxic Hypokalemic Periodic Paralysis [PDF]

open access: yes, 2020
Thyrotoxic hypokalemic periodic paralysis (THPP) is a condition that results in transient skeletal muscle paralysis secondary to intracellular potassium sequestration.
Lajeunesse, Michael, Young, Scott
core  

Channelopathy of the pancreas causes chronic pancreatitis.

open access: yesGastroenterology, 2020
Chronic pancreatitis is a progressive inflammatory disorder of the pancreas, which often develops in the background of genetic susceptibility. Identification of genetic risk factors has provided important clues towards mechanistic disease models that ...
M. Sahin-Tóth
semanticscholar   +1 more source

Malignant ventricular arrhythmias induction by programmed electrical stimulation of the right ventricular outflow tract only during type 1 brugada ECG maximization [PDF]

open access: yes, 2016
OBJECTIVE: The role of electrophysiology study in Brugada syndrome (BS) sudden cardiac death risk stratification remains controversial and seems to depend on the phenotypic expression of the channelopathy.
ALESSANDRI, Nicola   +7 more
core  

A pannexin 1 channelopathy causes human oocyte death

open access: yesScience Translational Medicine, 2019
Inherited dominant mutations in PANX1 cause female infertility characterized by oocyte death. A vital gene for oocytes Infertility is common in both males and females, but the biological causes of female infertility are not as well understood. Sang et al.
Qing Sang   +22 more
semanticscholar   +1 more source

Novel Cardiocerebral Channelopathy Associated with a KCND3 V392I Mutation.

open access: yesInternational Heart Journal, 2020
While a KCND3 V392I mutation uniquely displays a mixed electrophysiological phenotype of Kv4.3, only limited clinical information on the mutation carriers is available. We report two teenage siblings exhibiting both cardiac (early repolarization syndrome
T. Nakajima   +10 more
semanticscholar   +1 more source

Association of BMI with adherence and outcome in heart failure patients treated with wearable cardioverter defibrillator

open access: yesESC Heart Failure, Volume 12, Issue 2, Page 1295-1303, April 2025.
Abstract Background Obesity is a known risk factor for cardiovascular disease (CVD), yet an ‘obesity paradox’ has been observed in various CVD contexts. The impact of obesity on heart failure (HF) patients treated with a wearable cardioverter‐defibrillator (WCD) remains underexplored.
Mohammad Abumayyaleh   +18 more
wiley   +1 more source

TRPV4-mediated channelopathies [PDF]

open access: yesChannels, 2010
Transient receptor potential vanilloid sub type 4 (TRPV4) is a member of non-selective cation channel that is important for sensation of several physical and chemical stimuli and also involved in multiple physiological functions. Recently it gained immense medical and clinical interest as several independent studies have demonstrated that mutations in ...
Pratibha, Verma   +2 more
openaire   +2 more sources

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

open access: yesEpilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang   +3 more
wiley   +1 more source

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