Results 81 to 90 of about 18,132 (269)

Implant and Midterm Outcomes of the Subcutaneous Implantable Cardioverter-Defibrillator Registry: The EFFORTLESS Study. [PDF]

, 2017
BACKGROUND: The subcutaneous implantable cardioverter-defibrillator (S-ICD) was developed to defibrillate ventricular arrhythmias, avoiding drawbacks of transvenous leads.
Barr, C, Boersma, L, Duffy, E, Eckardt, L, EFFORTLESS Investigator Group,, Hood, M, Husby, M, Jones, P, Knops, R, Kuschyk, J, Lambiase, PD, Neuzil, P, Scholten, M, Stein, K, Theuns, D   +14 more
core   +2 more sources

Calmodulin Mutations in Human Disease

Channels, 2023
Calcium ions (Ca2+) are the basis of a unique and potent array of cellular responses. Calmodulin (CaM) is a small but vital protein that is able to rapidly transmit information about changes in Ca2+ concentrations to its regulatory targets.
John W. Hussey, Worawan B. Limpitikul, Ivy E. Dick   +2 more
doaj   +1 more source

Adenylyl Cyclase 8 in Dorsal CA1 Neurons Prevents Depressive‐Like Behaviors by Maintaining Neuronal Excitability and Glutamatergic Neurotransmission Through TIP39‐PTH2R Signaling

Advanced Science, EarlyView.
Depression, a prevalent neuropsychiatric disorder with unclear pathogenesis, involves dysfunctional adenylyl cyclase 8 (Adcy8) as a key risk factor. Chronic stress selectively reduces Adcy8 expression in the dorsal CA1 (dCA1) neurons. Depletion of Adcy8 in dCA1 excitatory neurons induces depressive‐like behaviors by impairing neuronal excitability and ...
Zi‐Jie Liu, Jia‐Rui Bi, Zong‐Yan Yu, Meng Tian, Zhi‐Yue Chen, Ran Wei, Miao‐Miao Wang, Hai‐Wei Zha, Yu‐Qing Zhang, Hong‐Jing Wang, Bang‐You Qiang, Shuang‐Shuang Sun, Xiao‐Juan Zhu, Wen‐Bing Chen, Dong Sun   +14 more
wiley   +1 more source

Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients

Haematologica, 2019
We describe the clinical, hematologic and genetic characteristics of a retrospective series of 126 subjects from 64 families with hereditary xerocytosis.
V. Picard, C. Guitton, I. Thuret, C. Rose, L. Bendélac, K. Ghazal, P. Aguilar-Martinez, C. Badens, C. Barro, C. Bénéteau, C. Berger, P. Cathébras, E. Deconinck, J. Delaunay, J. Durand, N. Firah, F. Galactéros, B. Godeau, X. Jaïs, J. de Jauréguiberry, C. le Stradic, F. Lifermann, Robert Maffre, G. Morin, J. Perrin, V. Proulle, M. Ruivard, F. Toutain, A. Lahary, L. Garçon   +29 more
semanticscholar   +1 more source

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

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   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Shortening of the Short Refractory Periods in Short QT Syndrome. [PDF]

, 2017
BACKGROUND: Diagnosis of short QT syndrome (SQTS) remains difficult in case of borderline QT values as often found in normal populations. Whether some shortening of refractory periods (RP) may help in differentiating SQTS from normal subjects is unknown.
Cardin, C, Fourcade, C, Gaita, F, Gandjbakhch, E, Giustetto, C, Maupain, C, Maury, P, Mondoly, P, Monteil, B, Rollin, A, Scrocco, C   +10 more
core   +3 more sources

New Cav1.2 Channelopathy with High-Functioning Autism, Affective Disorder, Severe Dental Enamel Defects, a Short QT Interval, and a Novel CACNA1C Loss-of-Function Mutation

International Journal of Molecular Sciences, 2020
Complex neuropsychiatric-cardiac syndromes can be genetically determined. For the first time, the authors present a syndromal form of short QT syndrome in a 34-year-old German male patient with extracardiac features with predominant psychiatric ...
D. Endres, N. Decher, Isabell Röhr, Kirsty S. Vowinkel, K. Domschke, K. Komlosi, A. Tzschach, B. Gläser, M. Schiele, Kimon Runge, P. Süß, F. Schuchardt, K. Nickel, B. Stallmeyer, S. Rinné, E. Schulze-Bahr, L. Tebartz van Elst   +16 more
semanticscholar   +1 more source

Resilience to Endoplasmic Reticulum Stress Mitigates Membrane Hyperexcitability Underlying Late Disease Onset in a Murine Model of SCA6

Annals of Neurology, EarlyView.
Objective An enduring puzzle in many inherited neurological disorders is the late onset of symptoms despite expression of function‐impairing mutant protein early in life. We examined the basis for onset of impairment in spinocerebellar ataxia type 6 (SCA6), a canonical late‐onset neurodegenerative ataxia which results from a polyglutamine expansion in ...
Haoran Huang, Taylor L. Charron, Min Fu, Miranda Dunn, Deborah M. Jones, Praveen Kumar, Satoshi Ishishita, Allan‐Hermann Pool, Ashwinikumar Kulkarni, Genevieve Konopka, Vikram G. Shakkottai   +10 more
wiley   +1 more source

Dravet Syndrome : A Genetic Epileptic Disorder [PDF]

, 2012
Dravet syndrome (DS), or severe myoclonic epilepsy in infancy, is one of the most severe types of genetic epilepsy. It is characterized by the initial occurrence of febrile or afebrile seizures that often evolve into status epilepticus in infants with ...
Akiyama, Mari, Kobayashi, Katsuhiro, Ohtsuka, Yoko   +2 more
core   +1 more source