リアノジン受容体欠損

WordNet

desert (a cause, a country or an army), often in order to join the opposing cause, country, or army; "If soldiers deserted Hitlers army, they were shot" (同)desert
an imperfection in an object or machine; "a flaw caused the crystal to shatter"; "if there are any defects you should send it back to the manufacturer" (同)fault, flaw
an imperfection in a bodily system; "visual defects"; "this device permits detection of defects in the lungs"
a failing or deficiency; "that interpretation is an unfortunate defect of our lack of information" (同)shortcoming
a cellular structure that is postulated to exist in order to mediate between a chemical agent that acts on nervous tissue and the physiological response

PrepTutorEJDIC

〈C〉『欠点』,弱点,欠陥 / 〈U〉〈C〉《古》不足,欠乏 / (国・党・主義などから)離脱する,裏切って出る《+『from』+『名』》;離反して(…に)転向する《+『to』+『名』》
=sense organ / 受信装置

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1. インスリン受容体の構造および機能 structure and function of the insulin receptor
2. 甲状腺ホルモンに対する感受性の傷害 impaired sensitivity to thyroid hormone
3. 免疫不全症を引き起こすCD3／T細胞受容体複合体疾患 cd3 t cell receptor complex disorders causing immunodeficiency
4. 薬物熱 drug fever
5. 小児における、心房中隔欠損（ASD）の分類および孤立性ASDの臨床的特徴および診断 classification of atrial septal defects asds and clinical features and diagnosis of isolated asds in children

Enhanced Cytosolic Ca2+ Activation Underlies a Common Defect of Central Domain Cardiac Ryanodine Receptor Mutations Linked to Arrhythmias.

Xiao Z1, Guo W1, Sun B1, Hunt DJ1, Wei J1, Liu Y1, Wang Y1, Wang R1, Jones PP2, Back TG1, Chen SR3.
The Journal of biological chemistry.J Biol Chem.2016 Oct 12. pii: jbc.M116.756528. [Epub ahead of print]
Recent three-dimensional structural studies reveal that the Central domain of ryanodine receptor (RyR) serves as a transducer that converts long-range conformational changes into the gating of the channel pore. Interestingly, the Central domain encompasses one of the mutation hotspots (corresponding
PMID 27733687

[OP.5D.02] TRANSCRIPTOMIC CHANGES IN EARLY PREGNANCY-ASSOCIATED UTERINE ARTERY REMODELLING IN STROKE PRONE SPONTANEOUSLY HYPERTENSIVE RAT.

Morgan H1, Small HY, Beattie E, McBride MW, Graham D.
Journal of hypertension.J Hypertens.2016 Sep;34 Suppl 2:e63. doi: 10.1097/01.hjh.0000491501.79443.05.
OBJECTIVE: Deficient spiral artery remodelling is an early gestational defect linked to a number of pregnancy complications such as pre-eclampsia and gestational hypertension. We have previously demonstrated abnormal uterine artery remodelling at gestational day 18 in the stroke prone spontaneously
PMID 27508758

An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities.

Lopez RJ1, Byrne S2, Vukcevic M3, Sekulic-Jablanovic M1, Xu L4, Brink M4, Alamelu J5, Voermans N6, Snoeck M7, Clement E8, Muntoni F9, Zhou H9, Radunovic A10, Mohammed S8, Wraige E2, Zorzato F11, Treves S11, Jungbluth H12.
Science signaling.Sci Signal.2016 Jul 5;9(435):ra68. doi: 10.1126/scisignal.aad9813.
Malignant hyperthermia is a potentially fatal hypermetabolic disorder triggered by halogenated anesthetics and the myorelaxant succinylcholine in genetically predisposed individuals. About 50% of susceptible individuals carry dominant, gain-of-function mutations in RYR1 [which encodes ryanodine rece
PMID 27382027

AM Wilde Arthur
Journal of Arrhythmia 27(Supplement), SS6_5, 2011
… This knowledge has led to a recent increase in the therapeutic armentarium for these disease entities, frequently aimed to directly target the molecular defect. … In catecholaminergic Ventricular tachycardia (CPVT) mutations in the Ryanodine receptor gene (RyR2) are responsible for a leaky RyR protein. …
NAID 130002130120

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