Results 11 to 20 of about 3,372 (135)

124I‐labelled BMSC‐Derived Extracellular Vesicles Deliver CRISPR/Cas9 Ribonucleoproteins With a GFP‐Reporter System to Inhibit Osteosarcoma Proliferation and Metastasis [PDF]

Journal of Extracellular Vesicles
Metastasis constitutes the principal factor leading to the unfavourable prognosis of osteosarcoma patients. Hypoxia, as the inherent microenvironment of osteosarcoma, can upregulate HIF‐1α via multiple pathways, thereby facilitating osteosarcoma ...
Yujie Pan, Xianteng Yang, Zhirui Zeng, Futao Liu, Jin Luo, Mao Shen, Wei Zhou, Jianyang Li, Guangfu Jiang, Li Sun, Haifeng Huang, Runsang Pan   +11 more
doaj   +2 more sources

A common variant near the KCNJ2 gene is associated with T-peak to T-end interval. [PDF]

Heart Rhythm, 2012
T-peak to T-end (TPE) interval on the electrocardiogram is a measure of myocardial dispersion of repolarization and is associated with an increased risk of ventricular arrhythmias. The genetic factors affecting the TPE interval are largely unknown.To identify common genetic variants that affect the duration of the TPE interval in the general population.
Marjamaa A, Oikarinen L, Porthan K, Ripatti S, Peloso G, Noseworthy PA, Viitasalo M, Nieminen MS, Toivonen L, Kontula K, Peltonen L, Havulinna AS, Jula A, O'Donnell CJ, Newton-Cheh C, Perola M, Salomaa V.   +16 more
europepmc   +4 more sources

Andersen–Tawil Syndrome With Novel Mutation in KCNJ2: Case Report

Frontiers in Pediatrics, 2022
Andersen–Tawil syndrome (ATS) is a rare autosomal dominant disorder characterized by a classic symptom triad: periodic paralysis, ventricular arrhythmias associated with prolonged QT interval, and dysmorphic skeletal and facial features.
Jisook Yim, Jisook Yim, Kyoung Bo Kim, Minsun Kim, Gun Dong Lee, Myungshin Kim, Myungshin Kim   +6 more
doaj   +3 more sources

Predicting gene expression changes from chromatin structure modification [PDF]

npj Systems Biology and Applications
Spatial organization of chromatin plays a critical role in gene transcription, but connecting population-averaged HiC data to functional outcomes remains a challenge.
Swayamshree Senapati, Inayat Ullah Irshad, Ajeet K. Sharma, Hemant Kumar   +3 more
doaj   +2 more sources

Clinical features and advances in the genetics of periodic paralysis [PDF]

PeerJ
Periodic paralysis (PP) is a group of ion channel diseases with incomplete autosomal dominant inheritance, except in sporadic patients. Ion channel gene mutations cause transient abnormalities in skeletal muscle excitability and muscle weakness ...
Man Luo, Beibei Liu, Junjie Xu, Danyang Meng   +3 more
doaj   +3 more sources

Case Report of Andersen–Tawil Syndrome: Rare Presentation of a Rare Disease [PDF]

Annals of Indian Academy of Neurology
Andersen–Tawil syndrome (ATS) is a rare genetic disorder characterized by a triad of periodic paralysis, cardiac arrhythmias, and dysmorphic features, typically presenting in the first two decades of life.
Himanshu Shakya, Shivangi Bhatnagar, Pratik Babel, Suman Kushwaha, Rajinder K Dhamija   +4 more
doaj   +2 more sources

Translating cardiovascular ion channel and Ca²⁺ signalling mechanisms into therapeutic insights. [PDF]

J Physiol
Abstract figure legend This white paper integrates mechanistic discoveries across ion channel biology, Ca2+ signalling and multiscale cardiovascular physiology to highlight new opportunities for accelerating research and guiding next‐generation therapies. Printed with permission from ®Anita Impagliazzo Medical Illustration. [Correction added on 2 March
Marchianò S, Martín-Aragón Baudel M, Smith CER, Hernandez GH, Bers DM, Boyle PM, Dobrev D, Hamilton S, Harraz OF, Li N, Longden TA, Louch WE, Nieves-Cintron M, Nystoriak MA, Murfee WL, Radwański PB, Sonkusare SK, Navedo MF, Grandi E.   +18 more
europepmc   +2 more sources

Identifying and validating hypoxia- and metabolism-related hub genes and cell communication in atherosclerosis [PDF]

Frontiers in Cardiovascular Medicine
BackgroundAtherosclerosis (AS) is a multifactorial disorder characterized by plaque formation, with hypoxia and metabolic pathways playing central roles in its pathogenesis.
Li Hao, Qun Xu, Guang Yang, Mingxue Di
doaj   +2 more sources

Atypical presentation of Andersen-Tawil syndrome: heart failure with reduced ejection without periodic paralysis or dysmorphic features [PDF]

European Journal of Case Reports in Internal Medicine
Background: Andersen-Tawil syndrome (ATS) is a rare autosomal dominant disorder caused by variants in the KCNJ2 gene. It is associated with periodic paralysis, dysmorphic features and cardiac arrhythmias.
Mustafa Shehzad, Dawood Shehzad, Muhammad Ahmad, Sundus Huma, Shaheer Minhas, Abdul Wassey   +5 more
doaj   +2 more sources

Detection of a high-frequency silent polymorphism (C→T) in the Kir2.1 (KCNJ2) inwardly rectifying potassium channel gene by polymerase chain reaction and single strand conformation polymorphism

Molecular and Cellular Probes, 1998
The aim of this work was to determine the frequency of a base substitution (C-->T) identified in the Kir2.1 gene (approved gene symbol: KCNJ2; OMIM number: 600681). Polymerase chain reaction (PCR) of the area of the Kir2.1 gene containing this substitution was performed on 52 genomic DNA samples.
P, Mylona, D A, Gokhale, G M, Taylor, C P, Sibley   +3 more
exaly   +3 more sources