نتایج جستجو برای: dpp6

تعداد نتایج: 82  

2009
Bernard Attali

The somato-dendritic subthreshold-operating A-type K + current (I SA) plays a crucial role in neuronal excitability. It regulates spike timing and frequency, dampens the back propagation of action potentials into dendrites and has an important role in dendritic signal processing (Hoffman et al., 1997). Hence, any alteration of I SA current density or gating kinetics could then have important co...

2011
P. G. Postema I. Christiaans N. Hofman M. Alders T. T. Koopmann C. R. Bezzina P. Loh K. Zeppenfeld P. G. A. Volders A. A. M. Wilde

In this part of a series on founder mutations in the Netherlands, we review familial idiopathic ventricular fibrillation linked to the DPP6 gene. Familial idiopathic ventricular fibrillation determines an intriguing subset of the inheritable arrhythmia syndromes as there is no recognisable phenotype during cardiological investigation other than ventricular arrhythmias highly associated with sud...

2012
Henry H. Jerng Paul J. Pfaffinger

Dipeptidyl peptidase-like protein 6 (DPP6) proteins co-assemble with Kv4 channel α-subunits and Kv channel-interacting proteins (KChIPs) to form channel protein complexes underlying neuronal somatodendritic A-type potassium current (I(SA)). DPP6 proteins are expressed as N-terminal variants (DPP6a, DPP6K, DPP6S, DPP6L) that result from alternative mRNA initiation and exhibit overlapping express...

Journal: :Human molecular genetics 2010
Hylke M Blauw Ammar Al-Chalabi Peter M Andersen Paul W J van Vught Frank P Diekstra Michael A van Es Christiaan G J Saris Ewout J N Groen Wouter van Rheenen Max Koppers Ruben Van't Slot Eric Strengman Karol Estrada Fernando Rivadeneira Albert Hofman Andre G Uitterlinden Lambertus A Kiemeney Sita H M Vermeulen Anna Birve Stefan Waibel Thomas Meyer Simon Cronin Russell L McLaughlin Orla Hardiman Peter C Sapp Martin D Tobin Louise V Wain Barbara Tomik Agnieszka Slowik Robin Lemmens Dan Rujescu Claudia Schulte Thomas Gasser Robert H Brown John E Landers Wim Robberecht Albert C Ludolph Roel A Ophoff Jan H Veldink Leonard H van den Berg

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease selectively affecting motor neurons in the brain and spinal cord. Recent genome-wide association studies (GWASs) have identified several common variants which increase disease susceptibility. In contrast, rare copy-number variants (CNVs), which have been associated with several neuropsychiatric traits, have not been studie...

Journal: :European Heart Journal 2022

Abstract Background Since the association of a chromosomal risk haplotype harboring dipeptidyl peptidase-like protein-6 (DPP6) to familial idiopathic ventricular fibrillation (iVF), growing number DPP6 missense variants has been reported in patients with tachyarrhythmias. The mechanisms underlying mediated-arrhythmogenesis are not yet fully elucidated. is subunit transient outward potassium (It...

2015
Amy C Sturm Crystal F Kline Patric Glynn Benjamin L Johnson Jerry Curran Ahmet Kilic Robert S D Higgins Philip F Binkley Paul M L Janssen Raul Weiss Subha V Raman Steven J Fowler Silvia G Priori Thomas J Hund Cynthia A Carnes Peter J Mohler

BACKGROUND Identified genetic variants are insufficient to explain all cases of inherited arrhythmia. We tested whether the integration of whole exome sequencing with well-established clinical, translational, and basic science platforms could provide rapid and novel insight into human arrhythmia pathophysiology and disease treatment. METHODS AND RESULTS We report a proband with recurrent vent...

2018
Guang Xu GUANG XU

A list of genes have been identified to carry mutations causing familial ALS such as SOD1, TARDBP, C9orf72. But for sporadic ALS, which is 90% of all ALS cases, the underlying genetic variants are still largely unknown. There are multiple genome-wide association study (GWAS) for sporadic ALS, but usually a large number nominated SNP can hardly be replicated in larger cohort analysis. Also major...

Journal: :American Journal of Medical Genetics Part A 2016

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