Results 91 to 100 of about 11,986 (188)

IDENTIFICAZIONE E CARATTERIZZAZIONE FUNZIONALE DI MUTAZIONI DEL GENE RYR1 ASSOCIATE ALL’IPERTERMIA MALIGNA

, 2006
Ricerca delle mutazioni nel gene RYR1, associate all’Ipertermia Maligna e loro caratterizzazione strutturale e funzionale mediante saggi in ...
CARSANA, ANTONELLA
core  

Study of calcium sparks in skeletal and smooth muscle cells in normal and pathological conditions [PDF]

, 2016
mTOR signaling influence a wide range of cellular process including protein synthesis (Iadevaia et al., 2012; Ma and Blenis, 2009; Thoreen et al., 2012), lipids synthesis (Lamming and Sabatini, 2013), transcription (Dibble and Manning, 2013; Vazquez ...
López, Rubén
core   +1 more source

Ryanodine receptor 1 (RyR1) localization

Cross-sections of the gastrocnemius (a-h) and soleus (i-p) muscles were stained with anti-RyR1 antibody. Asterisks indicate normal immunoreactivity (IR) in the cytoplasm and subsarcolemma of RyR1 (a-d, i-p). Arrows indicate muscle fiber with ectopic RyR1
Yasufumi Shigeyoshi (13836964), Tatsuo Takahashi (3864154), Satoshi Koinuma (550133), Yuji Kanazawa (17860403), Mamoru Nagano (209985)   +4 more
core   +1 more source

Genetic variation in RYR1 is associated with heart failure progression and mortality in a diverse patient population

Frontiers in Cardiovascular Medicine
IntroductionHeart failure (HF) is a highly prevalent disease affecting roughly 7 million Americans. A transcriptome-wide analysis revealed RYR1 upregulation in HF patients with severe pulmonary hypertension.
Leonardo A. Guerra, Christelle Lteif, Christelle Lteif, Yimei Huang, Yimei Huang, Yimei Huang, Rylie M. Flohr, Rylie M. Flohr, Alejandra C. Nogueira, Brian E. Gawronski, Brian E. Gawronski, Julio D. Duarte, Julio D. Duarte   +12 more
doaj   +1 more source

Characterization of recessive RYR1 mutations in core myopathies [PDF]

, 2006
We have characterized at the molecular level, three families with core myopathies carrying apparent recessive mutations in their RYR1 gene and studied the pharmacological properties of myotubes carrying endogenous mutations as well as the properties of ...
Jungbluth, Heinz; id_orcid, Zhou, Haiyan, Yamaguchi, Naohiro, Zorzato, Francesco, Xu, Le, Treves, Susan, Wang, Ying, Meissner, Gerhard, Jungbluth, Heinz, Muntoni, Francesco, Bertini, Enrico, Sewry, Caroline   +11 more
core   +1 more source

Nitric Oxide-induced Activation of the Type 1 Ryanodine Receptor Is Critical for Epileptic Seizure-induced Neuronal Cell Death

EBioMedicine, 2016
Status epilepticus (SE) is a life-threatening emergency that can cause neurodegeneration with debilitating neurological disorders. However, the mechanism by which convulsive SE results in neurodegeneration is not fully understood.
Yoshinori Mikami, Kazunori Kanemaru, Yohei Okubo, Takuya Nakaune, Junji Suzuki, Kazuki Shibata, Hiroki Sugiyama, Ryuta Koyama, Takashi Murayama, Akihiro Ito, Toshiko Yamazawa, Yuji Ikegaya, Takashi Sakurai, Nobuhito Saito, Sho Kakizawa, Masamitsu Iino   +15 more
doaj   +1 more source

Triadin peptide does not activate mutant or native RyR1, or when its RyR1 binding site is blocked.

, 2013
(A–B) 3 s traces of RyR1 channel activity at −40 mV. Channels are opening downwards from zero current (c, continuous line) to maximum open conductance (o, broken line).
Elize Wium (310325), Angela F. Dulhunty (202327), Nicole A. Beard (310326)   +2 more
core   +1 more source

Isoflurane activates the type 1 ryanodine receptor to induce anesthesia in mice.

PLoS Biology
Inhaled anesthetics were first introduced into clinical use in the 1840s. Molecular and transgenic animal studies indicate that inhaled anesthetics act through several ion channels, including γ-aminobutyric acid type A receptors (GABAARs) and two-pore ...
Hiroyuki J Kanaya, Ken Kuwajima, Yuko Ito, Yuta Shinohara, Yohei Okubo, Shinnosuke Shiono, Fumiya Tatsuki, Rei-Ichiro Ohno, Hideki Ukai, Maki Ukai-Tadenuma, Kenta Sumiyama, Hiroshi Fujishima, Rikuhiro G Yamada, Daisuke Tone, Hiroshi Kiyonari, Masaki Kikuchi, Takashi Umehara, Takashi Murayama, Kazunori Kanemaru, Masamitsu Iino, Koji L Ode, Takatsugu Hirokawa, Hiroki R Ueda   +22 more
doaj   +1 more source

Generation of two iPSC lines from adult central core disease patients with dominant missense variants in the RYR1 gene

Stem Cell Research
RYR1 variants are a common cause of congenital myopathies, including multi-minicore disease (MmD) and central core disease (CCD). Here, we generated iPSC lines from two CCD patients with dominant RYR1 missense variants that affect the transmembrane (pore)
Joshua S. Clayton, Christina Vo, Jordan Crane, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor   +10 more
doaj   +1 more source

Genetics of Malignant Hyperthermia

The Scientific World Journal, 2006
Study of the genetics of the malignant hyperthermia syndrome began in families in which both malignant hyperthermia (MH) episodes had been experienced and individuals had strongly positive contracture tests diagnostic of susceptibility to MH.
Barbara W. Brandom
doaj   +1 more source