نتایج جستجو برای: ژن scn4a

تعداد نتایج: 15933  

2016
Sandra B Gabelli Jesse B Yoder Gordon F Tomaselli L Mario Amzel

The structures of the cytosolic portion of voltage activated sodium channels (CTNav) in complexes with calmodulin and other effectors in the presence and the absence of calcium provide information about the mechanisms by which these effectors regulate channel activity. The most studied of these complexes, those of Nav1.2 and Nav1.5, show details of the conformations and the specific contacts th...

Journal: :EMBO reports 2016
Yeon Hee Kang Christian S Hardtke

Receptor kinases convey diverse environmental and developmental inputs by sensing extracellular ligands. In plants, one group of receptor-like kinases (RLKs) is characterized by extracellular leucine-rich repeat (LRR) domains, which interact with various ligands that include the plant hormone brassinosteroid and peptides of the CLAVATA3/EMBRYO SURROUNDING REGION (CLE) type. For instance, the CL...

Journal: : 2023

زمینه و هدف: کم‌تحرکی در مقابل آن تمرین جزء عوامل مرتبط با شاخص‌های آسیب کبدی به‌شمار می‌روند. وجود این هنوز نقش بسیاری از تمرین‌های ورزشی به‌ویژه تمرینات تناوبی مقاومتی مصرف برخی مکمل‌های غذایی جمله اسپیرولینا بر ایمنی التهابی کاملاٌ شناخته نشده است؛ بنابراین هدف پژوهش تعیین اثر هشت هفته مکمل‌دهی هوازی فعالیت بافت کبد بیان ژن CXCL1 عضلة موش‌های صحرایی نر بود.مواد روش‌ها: نیمه‌تجربی، 60 سر موش ن...

Journal: :Molecular biology and evolution 2014
Joseph Caspermeyer

Take a muscle cell, modify it over millions of years, and you end up with an exciting and literally shocking evolutionary result: The electric fish. Two groups of electric fish, one in Africa (Mormyroids) and one in South America (Gymnotiforms), have independently evolved sophisticated communication systems using these cells. Both groups of fish are incredibly diverse; one species, the famous e...

Journal: :Neuromuscular disorders : NMD 1993
F Lehmann-Horn R Rüdel K Ricker

Our understanding of the pathology of the nondystrophic myotonias and the periodic paralyses has profited immensely from the use of modern electrophysiology (three microelectrode voltage clamp, patch-clamp techniques) and molecular biology (candidate gene approaches in contrast to reverse genetics in other neuromuscular diseases). In the past few years it has become clear that--apart from the n...

Journal: :Brain : a journal of neurology 2016
Fenfen Wu Wentao Mi Yu Fu Arie Struyk Stephen C Cannon

Over 60 mutations of SCN4A encoding the NaV1.4 sodium channel of skeletal muscle have been identified in patients with myotonia, periodic paralysis, myasthenia, or congenital myopathy. Most mutations are missense with gain-of-function defects that cause susceptibility to myotonia or periodic paralysis. Loss-of-function from enhanced inactivation or null alleles is rare and has been associated w...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2000
K Jurkat-Rott N Mitrovic C Hang A Kouzmekine P Iaizzo J Herzog H Lerche S Nicole J Vale-Santos D Chauveau B Fontaine F Lehmann-Horn

The pathomechanism of familial hypokalemic periodic paralysis (HypoPP) is a mystery, despite knowledge of the underlying dominant point mutations in the dihydropyridine receptor (DHPR) voltage sensor. In five HypoPP families without DHPR gene defects, we identified two mutations, Arg-672-->His and -->Gly, in the voltage sensor of domain 2 of a different protein: the skeletal muscle sodium chann...

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