Results 11 to 20 of about 9,985 (188)

Whole genome sequencing in paediatric channelopathy and cardiomyopathy [PDF]

Frontiers in Cardiovascular Medicine
BackgroundPrecision medicine in paediatric cardiac channelopathy and cardiomyopathy has a rapid advancement over the past years. Compared to conventional gene panel and exome-based testing, whole genome sequencing (WGS) offers additional coverage at the ...
Sit Yee Kwok, Anna Ka Yee Kwong, Julia Zhuo Shi, Connie Fong Ying Shih, Mianne Lee, Christopher C. Y. Mak, Martin Chui, Sabrina Tsao, Brian Hon Yin Chung   +8 more
doaj   +2 more sources

Acquired Piezo2 Channelopathy is One Principal Gateway to Pathophysiology

Frontiers in Bioscience-Landmark
The Piezo2 transmembrane proteins were identified by Ardem Patapoutian and his team. They also found that Piezo2 is the principal mechanosensory ion channel responsible for proprioception.
Balázs Sonkodi
doaj   +2 more sources

Progressive Irreversible Proprioceptive Piezo2 Channelopathy-Induced Lost Forced Peripheral Oscillatory Synchronization to the Hippocampal Oscillator May Explain the Onset of Amyotrophic Lateral Sclerosis Pathomechanism

Cells
Amyotrophic lateral sclerosis (ALS) is a mysterious lethal multisystem neurodegenerative disease that gradually leads to the progressive loss of motor neurons.
Balázs Sonkodi
doaj   +2 more sources

Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy or transcriptional dysregulation. The multifaceted aspects of a single mutation. [PDF]

Frontiers in Cellular Neuroscience, 2015
Spinocerebellar Ataxia type 6 is an autosomal dominant neurodegenerative disease characterized by late onset, slowly progressive, mostly pure cerebellar ataxia.
Paola eGiunti, Paola eGiunti, Elide eMantuano, Marina eFrontali, Liana eVeneziano   +4 more
doaj   +2 more sources

Gardos channelopathy: functional analysis of a novel KCNN4 variant [PDF]

, 2020
We show that the novel KCNN4 variant p.S314P is a gain-of-function mutation but is less severe than the previously reported p.R352H variant. The clinical heterogeneity, blurred symptoms, and absence of specific diagnostic markers make the diagnosis of ...
Marcello, Anna Paola, Petkova-Kirova, Polina, Bogdanova, Anna, Monedero-Alonso, David, Kaestner, Lars, Graziadei, Giovanna, Bogdanova, Anna; https://orcid.org/, Fermo, Elisa, Egee, Stephane, Pérès, Laurent, Makhro, Asya, Bouyer, Guillaume, Longo, Filomena, Bianchi, Paola, Barcellini, Wilma   +14 more
core   +1 more source

Disrupted Neural Regeneration in Dry Eye Secondary to Ankylosing Spondylitis—With a Theoretical Link between Piezo2 Channelopathy and Gateway Reflex, WDR Neurons, and Flare-Ups [PDF]

, 2023
This study aimed at analyzing the corneal neural regeneration in ankylosing spondylitis patients using in vivo corneal confocal microscopy in correlation with Langerhans cell density, morphology, and dry eye parameters.
Anikó Keller-Pintér, Balázs Sonkodi, Anita Csorba, Bence Kopper, Zoltán Zsolt Nagy, László Marsovszky, Miklós D. Resch, Attila Balog   +7 more
core   +2 more sources

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

Frontiers 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, Jocelyn Laporte, Johann Böhm   +2 more
doaj   +1 more source

Concealed Substrates in Brugada Syndrome: Isolated Channelopathy or Associated Cardiomyopathy?

, 2022
Brugada syndrome (BrS) is an inherited autosomal dominant genetic disorder responsible for sudden cardiac death from malignant ventricular arrhythmia. The term “channelopathy” is nowadays used to classify BrS as a purely electrical disease ...
Pili, Gianluca, Di Resta, Chiara, Benedetti, Sara, Sala, Simone, Giovanni Peretto, Simone Sala, Peretto, Giovanni, Gianluca Pili, Maia, Marianna, Jan Berg, Berg, Jan, Villatore, Andrea, Fioravanti, Francesco, Tomaiuolo, Rossella, Francesco Fioravanti, Andrea Villatore, Marianna Maia, Sara Benedetti, Rossella Tomaiuolo, Chiara Di Resta   +19 more
core   +1 more source

Mechanistic ion channel interactions in red cells of patients with Gărdos channelopathy [PDF]

, 2021
In patients with Gárdos channelopathy (p.R352H), an increased concentration of intracellular Ca21 was previously reported. This is a surprising finding because the Gárdos channel (KCa3.1) is a K1 channel.
Kaestner L., Wang X., Bernhardt I., Qiao M., Fermo E., Bianchi P., Jansen J., Hertz L., Zaninoni A., Colombatti R.   +9 more
core   +1 more source

ClC-1 Chloride Channel: Inputs on the Structure–Function Relationship of Myotonia Congenita-Causing Mutations

Biomedicines, 2023
Myotonia congenita is a hereditary muscle disease mainly characterized by muscle hyperexcitability, which leads to a sustained burst of discharges that correlates with the magnitude and duration of involuntary aftercontractions, muscle stiffness, and ...
Oscar Brenes, Michael Pusch, Fernando Morales   +2 more
doaj   +1 more source