Cardiac ryanodine receptor gene. Medical search. Frequent questions

The RYR2 gene provides instructions for making a protein called ryanodine receptor 2. (medlineplus.gov)
More than 200 mutations in the RYR2 gene have been found to cause catecholaminergic polymorphic ventricular tachycardia (CPVT), a heart condition characterized by an abnormal heart rhythm (arrhythmia) during exercise or emotional stress, which can be fatal. (medlineplus.gov)
Almost all of the RYR2 gene mutations involved in CPVT change single protein building blocks (amino acids) in the ryanodine receptor 2 protein. (medlineplus.gov)
Researchers are uncertain how RYR2 gene mutations lead to ventricular tachycardia, the abnormally fast and irregular heart rhythm that is characteristic of CPVT. (medlineplus.gov)
Several other mutations in the RYR2 gene have been found to cause a heart condition called arrhythmogenic right ventricular cardiomyopathy (ARVC). (medlineplus.gov)
The RYR2 gene mutations responsible for ARVC change single amino acids in the ryanodine receptor 2 protein. (medlineplus.gov)
Ryanodine receptor 2 (RYR2) is one of a class of ryanodine receptors and a protein found primarily in cardiac muscle. (wikipedia.org)
In humans, it is encoded by the RYR2 gene. (wikipedia.org)
In the process of cardiac calcium-induced calcium release, RYR2 is the major mediator for sarcoplasmic release of stored calcium ions. (wikipedia.org)
The RYR2 protein functions as the major component of a calcium channel located in the sarcoplasmic reticulum that supplies ions to the cardiac muscle during systole. (wikipedia.org)
To enable cardiac muscle contraction, calcium influx through voltage-gated L-type calcium channels in the plasma membrane allows calcium ions to bind to RYR2 located on the sarcoplasmic reticulum. (wikipedia.org)
This binding causes the release of calcium through RYR2 from the sarcoplasmic reticulum into the cytosol, where it binds to the C domain of troponin, which shifts tropomyosin and allows the myosin ATPase to bind to actin, enabling cardiac muscle contraction. (wikipedia.org)
RYR2 channels are associated with many cellular functions, including mitochondrial metabolism, gene expression and cell survival, in addition to their role in cardiomyocyte contraction. (wikipedia.org)
Deleterious mutations of the ryanodine receptor family, and especially the RYR2 receptor, lead to a constellation of pathologies leading to both acute and chronic heart failure collectively known as "Ryanopathies. (wikipedia.org)
Mutations in the RYR2 gene are associated with catecholaminergic polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. (wikipedia.org)
Recently, sudden cardiac death in several young individuals in the Amish community (four of which were from the same family) was traced to homozygous duplication of a mutant RyR2 gene. (wikipedia.org)
The phosphodiesterase 4D3 (PDE4D3) was found in the cardiac ryanodine receptor (RyR2)/calcium-release-channel complex (required for excitation-contraction [EC] coupling in heart muscle). (nih.gov)
PDE4D3 levels in the RyR2 complex were reduced in failing human hearts, contributing to PKA-hyperphosphorylated, "leaky" RyR2 channels that promote cardiac dysfunction and arrhythmias. (nih.gov)
Cardiac arrhythmias and dysfunction associated with PDE4 inhibition or deficiency were suppressed in mice harboring RyR2 that cannot be PKA phosphorylated. (nih.gov)
Expression silencing of junctophilin-2 (JPH2) in mouse heart leads to ryanodine receptor type 2 (RyR2)-mediated sarcoplasmic reticulum (SR) Ca(2+) leak and rapid development of heart failure. (duke.edu)
This is a list of variants' phenotypes submitted to ClinVar and linked to the RYR2 gene. (genebe.net)
My main area of interest is the inherited arrhythmia syndrome Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) which is predominantly caused by variants in the cardiac ryanodine receptor ( RYR2 ) gene. (manchester.ac.uk)
We identified a potentially novel mutation in ryanodine receptor 2, RyR2-P1124L, in a patient from a genotype-negative HCM cohort. (elsevierpure.com)
Homozygous mice for RyR2-P1124L showed mild cardiac hypertrophy, similar to the human patient. (elsevierpure.com)
This study is relevant to continue elucidating the possible causes of genotype-negative HCM and the role of RyR2 in cardiac hypertrophy. (elsevierpure.com)
RyRs are expressed in the membrane of the sarcoplasmic (SR)/endoplasmic reticulum and are expressed in many tissues, with RyR1 and RyR2 being the predominant isoforms in skeletal and cardiac muscle respectively. (tocris.com)
For example RyR1 is activated following membrane depolarization of skeletal muscle, whereas depolarization of cardiac muscle results in Ca 2+ influx through L-type Ca 2+ channels, which activates RyR2 by CICR. (tocris.com)
We hypothesized that pathological sarcoplasmic reticulum Ca2+ leak through defective cardiac intracellular Ca2+ release channels/ryanodine receptors (RyR2) accelerates heart failure development by stimulating Ca2+-dependent hypertrophic signaling. (maastrichtuniversity.nl)
The aim of this study was to investigate the effect of 4 weeks of high intensity interval training (HIIT) on gene expression of calcium channel of ryanodine receptors (RyR2), SERCA2a and phospholamban (PLB) in the heart of diabetic male rats. (ac.ir)
Real Time-PCR technique was used to determine the gene expression of RyR2, SERCA2a and PLB. (ac.ir)
The results revealed that 4 weeks of HIIT significantly increased gene expression of RyR2 in the left ventricle of the heart of HIIT group ( P =0.03). (ac.ir)

Calcium ions are then transported back into the sarcoplasmic reticulum, and the cardiac muscle relaxes. (medlineplus.gov)
Catecholaminergic polymorphic ventricular tachycardia (CPVT) results from mutations affecting proteins related to intracellular calcium regulation (particularly upregulation of the sarcoplasmic reticulum ryanodine receptor) in the heart. (msdmanuals.com)
In contrast, our whole animal and transcriptional studies indicate that hypoxia in combination with exercise enhanced the release of calcium from the sarcoplasmic reticulum via the ryanodine receptors triggered by caffeine, which increased the translocation of nuclear factor of activated T-cells into the nucleus to transcriptionally activate myoglobin expression. (elsevierpure.com)
Sequencing of genes involved in the movement of calcium across human skeletal muscle sarcoplasmic reticulum: continuing the search for genes associated with malignant hyperthermia. (cdc.gov)
This uncontrolled release is due to a defective calcium channel in the sarcoplasmic reticulum, known as ryanodine receptor 1 (RyR1). (medscape.com)
Small Ankyrins (sAnk1) are muscle-specific isoforms generated by the Ank1 gene that participate in the organization of the sarcoplasmic reticulum (SR) of striated muscles. (mdpi.com)

In patients, PDE inhibitors have been linked to heart failure and cardiac arrhythmias, although the mechanisms are not understood. (nih.gov)
We show that PDE4D gene inactivation in mice results in a progressive cardiomyopathy, accelerated heart failure after myocardial infarction, and cardiac arrhythmias. (nih.gov)
Calcium Signaling and Cardiac Arrhythmias. (duke.edu)
There has been a significant progress in our understanding of the molecular mechanisms by which calcium (Ca2+) ions mediate various types of cardiac arrhythmias. (duke.edu)
The majority of sudden cardiac death events in athletes are due to ventricular arrhythmias as a result of underlying molecular and/or structural level pathologic substrate. (scienceopen.com)
In this article, we will review the physiologic cardiac adaptations to exercise along with arrhythmias seen in athletes with a focus on those commonly associated with sudden cardiac death. (scienceopen.com)
This bifunctionally divergent behavior triggers arrhythmias and structural cardiac remodeling, and it involves overexpression of CaM as a potential hypertrophic mediator. (elsevierpure.com)
In conclusion, decreased or increased protein expression of several TRPM4 variants linked to cardiac conduction disorders or ventricular arrhythmias were found to be caused by altered TRPM4 half-life compared to the WT form. (frontiersin.org)
They also explored its potential as a therapeutic drug for use in preventing cardiac arrhythmias. (the-scientist.com)
Hypertrophic cardiomyopathy (HCM) is a common inherited heart disease with serious adverse outcomes, including heart failure, arrhythmias, and sudden cardiac death. (rupress.org)

Channels made with the ryanodine receptor 2 protein are found in heart (cardiac) muscle cells called myocytes. (medlineplus.gov)
Junctophilin-2 (JPH2), a protein expressed in the junctional membrane complex, is necessary for proper intracellular calcium (Ca(2+)) signaling in cardiac myocytes. (duke.edu)
2022. CMYA5 is a novel interaction partner of FHL2 in cardiac myocytes . (cardiff.ac.uk)
Jakobi T, Groß J, Cyganek L, Doroudgar S. Transcriptional Effects of Candidate COVID-19 Treatments on Cardiac Myocytes . (stemcellunit-umg.de)

Junctophilin-2 at the intersection of arrhythmia and pathologic cardiac remodeling. (duke.edu)
Atrial fibrillation (AF) is the most common form of cardiac arrhythmia. (nature.com)
New insights into the mechanisms underlying AF have identified promising new approaches, including the modulation of atrium-specific ion channels, connexins and the ryanodine receptor, the prevention of remodelling processes that lead to the arrhythmia as well as specific molecular events involved in arrhythmia generation. (nature.com)
Atrial fibrillation is the most common type of cardiac arrhythmia, and is responsible for substantial morbidity and mortality in the general population. (nature.com)
Ventricular arrhythmia (VA) may be an isolated and completely benign finding in children, a marker of serious systemic disease or myopathy, or a mechanism for syncope and sudden cardiac death (SCD). (medscape.com)

Sudden cardiac death related to athletic competition is a rare but tragic event. (scienceopen.com)
The occurrence of sudden cardiac death (SCD) in an athlete is a tragic event that deeply affects family members, teammates, and at times, an entire community. (scienceopen.com)
Patients are predisposed to ventricular tachyarrhythmias (less commonly atrial tachyarrhythmias) and sudden cardiac death, particularly during increased adrenergic activity (eg, from exercise). (msdmanuals.com)
Sudden cardiac death may occur. (msdmanuals.com)
Long QT syndrome (LQTS) is a congenital disorder characterized by a prolongation of the QT interval on electrocardiograms (ECGs) and a propensity to ventricular tachyarrhythmias, which may lead to syncope, cardiac arrest, or sudden death. (medscape.com)

Catecholaminergic polymorphic ventricular tachycardia is a genetic disorder affecting intracellular calcium regulation in cardiac tissue. (msdmanuals.com)
This gene may regulate the signaling activity of beta-catenin and is required to maintain transcription of genes that control intracellular calcium cycling including ryanodine receptor 2, ankyrin-B, triadin, and calcium channel, voltage-dependent, L type, alpha 1C. (nih.gov)

Although ACI-KO (ACI-/-) mice exhibit normal cardiac systolic or diastolic function, they experience SAN dysfunction. (ox.ac.uk)
Similarly, SAN-specific CRISPR/Cas9-mediated gene silencing of ACI results in sinus node dysfunction. (ox.ac.uk)
The ongoing and future studies are aimed to determine the role and mechanism of these altered PDEs in cardiac remodeling and dysfunction through genetic and pharmacological approaches. (rochester.edu)
A Novel Role of Cyclic Nucleotide Phosphodiesterase 10A in Pathological Cardiac Remodeling and Dysfunction. (rochester.edu)
Lack of FKBP12 is known to result in lethal cardiac dysfunction in mouse. (biomedcentral.com)

BACKGROUND:Hypertrophic cardiomyopathy (HCM), defined as asymmetric left ventricular hypertrophy, is a leading cause of cardiac death in the young. (duke.edu)

AIMS:Transverse tubules (TTs) provide the basic subcellular structures that facilitate excitation-contraction (EC) coupling, the essential process that underlies normal cardiac contractility. (duke.edu)
As part of the "flight or fight" response, protein kinase A phosphorylates phospholamban (PLN), thereby relieving a tonic inhibition of the endo/sarco-plasmic reticulum calcium pump, which results in an increased force of cardiac contraction. (elifesciences.org)
To initiate cardiac muscle contraction, an action potential depolarizes the sarcolemma and activates the voltage-gated calcium channel, Ca V 1.2, which mediates Ca 2+ influx ( Bers, 2002 ). (elifesciences.org)
cAMP and cGMP regulate a wide variety of cardiac functions, from the short-term effects on myocyte contraction/ relaxation to long-term effects such as gene expression and structural remodeling ( Figure 2 ). (rochester.edu)

Notably, LGMD subtypes are phenotypically highly variable, limb-girdle weakness may not be the predominant presentation, and mutation in genes assigned to LGMD subtypes may cause allelic conditions with a different phenotype. (medscape.com)
It is usually inherited as an autosomal dominant mutation of the gene encoding the cardiac ryanodine receptor, but it may be inherited as an autosomal recessive mutation of cardiac calsequestrin ( CASQ2 ). (msdmanuals.com)
Two pseudogenes have been identified on chromosome 7 and X. Multiple transcript variants encoding different isoforms have been found for this gene.A missense mutation in the CALM1 gene has been associated with ventricular tachycardia. (nih.gov)

The tachyarrhythmias may cause palpitations, syncope, or cardiac arrest. (msdmanuals.com)
Diagnosis should be considered in patients with unexplained cardiac arrest or syncope or a family history of such in the absence of structural heart disease. (msdmanuals.com)
LQTS is usually diagnosed after a person has a cardiac event (eg, syncope, cardiac arrest). (medscape.com)

Hypertrophic cardiomyopathy (HCM) is triggered mainly by mutations in genes encoding sarcomeric proteins, but a significant proportion of patients lack a genetic diagnosis. (elsevierpure.com)
Mutations in this gene are associated with different inherited cardiac conditions including Arrythmogenic Cardiomyopathy, Brugada Syndrome, and Idiopathic Ventricular Fibrillation. (nih.gov)
Diabetes results in a cardiomyopathy characterized by decreased cardiomyocyte function, increased myocardial fatty acid utilization, decreased glucose utilization, increased myocardial oxygen consumption, and decreased cardiac efficiency ( 4 , 5 ), primarily as the result of changes in metabolism and Ca 2+ handling within the myocyte ( 3 , 6 , 7 ). (diabetesjournals.org)

In pathological myocardial remodeling acts downstream of the beta adrenergic receptor signaling cascade to regulate key proteins involved in ECC. (icr.ac.uk)
This gene encodes one of three calmodulin proteins which are members of the EF-hand calcium-binding protein family. (nih.gov)

Pathological variants in TRPM4 gene have been linked to several cardiac phenotypes such as complete heart block (CHB), ventricular tachycardia, and Brugada syndrome (BrS). (frontiersin.org)
High prevalence of rare ryanodine receptor type 1 variants in patients suffering from aneurysmatic subarachnoid hemorrhage: A pilot study. (cdc.gov)

For example, mutations in TTN gene may present with a wide range of phenotypes ranging from congenital myopathy to late-onset distal myopathy. (medscape.com)
Finally, it seems appropriate to consider the "sodium channel syndrome" (mutations in the gene of the α subunit of the sodium channel, SCN5A gene) as a single clinical entity that may manifest in a wide range of phenotypes, to thus have a better insight on these cardiac syndromes and potential outcomes for their clinical treatment. (bvsalud.org)

These pathological features were previously linked to aberrant expression and remodeling of the cardiac gap junction protein connexin43 (Cx43). (jci.org)
Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
2019. Convergent evidence that ZNF804A is a regulator of pre-messenger RNA processing and gene expression . (cardiff.ac.uk)
In the nucleus, phosphorylates the MEF2 repressor HDAC4, promoting its nuclear export and binding to 14-3-3 protein, and expression of MEF2 and genes involved in the hypertrophic program. (icr.ac.uk)
40 Open group genes with progression toward disease.Failure of AV to close initiates an extensive response characterized by expression changes common to progression to calcific aortic valve disease. (stanford.edu)
AV coaptation, whether phasic or chronic, preserved phenotypic gene expression. (stanford.edu)
We compared expression differences between pairs of the three vessels to determine whether MAPCAs display distinct expression patterns.Functional clustering analysis identified differences in gene expression, which were further analyzed by gene ontology classification. (stanford.edu)
Expression differences among vessel types were observed for multiple gene classes. (stanford.edu)
Of note, we observed that MAPCAs differentially express several genes at much higher levels than either PA or aorta.MAPCAs differ from PA or aorta by significantly altered levels in gene expression, suggesting a transcriptional basis for their physiology that will guide a further understanding of the pathobiology of MAPCAs and TOF. (stanford.edu)
In vitro and in vivo studies revealed that hypoxia in the presence or absence of exercise-induced stimuli reprograms calcium signaling and modulates myoglobin gene expression. (elsevierpure.com)
The present study unveils a previously unrecognized mechanism where the hypoxia-mediated regulation of calcium transients from different intracellular pools modulates myoglobin gene expression. (elsevierpure.com)
Using a recombinant endonuclease-deficient Cas9-based gene promoter pulldown approach coupled with mass spectrometry, we found that MCUb is upregulated in the T2D heart due to loss of glucose homeostasis regulator nuclear receptor corepressor 2 repression, and chromatin immunoprecipitation assays identified peroxisome proliferator-activated receptor α as a mediator of MCUb gene expression in T2D cardiomyocytes. (diabetesjournals.org)
1994. Ah receptor in embryonic mouse palate and effects of TCDD on receptor expression. (cdc.gov)

2017. Ryanodine receptors are part of the myospryn complex in cardiac muscle . (cardiff.ac.uk)

The discovery that mutations in sarcomere protein genes cause HCM has enabled the development of mouse models that recapitulate clinical manifestations of disease. (rupress.org)

Schizophrenia and affective disorders--cosegregation with a translocation at chromosome 1q42 that directly disrupts brain-expressed genes: clinical and P300 findings in a family. (semanticscholar.org)
A processed pseudogene with high similarity to this gene has been mapped to chromosome 12p13. (nih.gov)

Since that time there has been intense scientific interest in the study of cardiac adaptation to repetitive bouts of vigorous activity, athletic performance, and the pathophysiology of structural, functional, and electrical cardiac diseases in competitive athletes. (scienceopen.com)

Dulhunty had set up electrophysiology experiments on a receptor from mammalian cardiac muscle fiber to measure its activity, and her initial measurements on the receptor's activity were going nicely. (the-scientist.com)

Figure 6: Drugs targeting ryanodine receptor function through improved FKBP12.6 binding and domain zipping. (nature.com)

Disrupted junctional membrane complexes and hyperactive ryanodine receptors after acute junctophilin knockdown in mice. (duke.edu)
Cardiac function was significantly lower, and cardiac dimensions were larger at 8 weeks after transverse aortic constriction in R176Q/+ compared with wild-type mice. (maastrichtuniversity.nl)
Quantitative PCR revealed increased transcriptional activation of cardiac stress genes in R176Q/+ mice after transverse aortic constriction. (maastrichtuniversity.nl)

May participate in the modulation of skeletal muscle function in response to exercise, by regulating SR Ca(2+) transport through phosphorylation of PLN/PLB and triadin, a ryanodine receptor-coupling factor. (icr.ac.uk)

Gene therapy displacement of endogenous MCUb with a dominant-negative MCUb transgene (MCUb W246R/V251E ) in vivo rescued T2D cardiomyocytes from metabolic inflexibility and stimulated cardiac contractile function and adrenergic responsiveness by enhancing phospholamban phosphorylation via protein kinase A. We conclude that MCUb represents one newly discovered molecular effector at the interface of metabolism and cardiac function, and its repression improves the outcome of the chronically stressed diabetic heart. (diabetesjournals.org)

For the heart to beat normally, the cardiac muscle must tense (contract) and relax in a coordinated way. (medlineplus.gov)
The resulting increase in calcium ion concentration triggers the cardiac muscle to contract, which pumps blood out of the heart. (medlineplus.gov)
Emerging roles of junctophilin-2 in the heart and implications for cardiac diseases. (duke.edu)
This study has been led by science at the molecular level as well as by advances in imaging that allow us to "look inside the heart" using electrocardiography, echocardiography, cardiac computed tomography, and cardiac magnetic resonance imaging techniques. (scienceopen.com)
Endurance-based sports activities (e.g., rowing, swimming, cycling, and long-distance running) result in sustained elevations in cardiac output and normal or decreased peripheral vascular resistance, and importantly, impose significant volume challenges to all cardiac chambers and vessels leading away from the heart. (scienceopen.com)
Three years after the initial discovery, they found that another protein structurally related to glutathione transferases, a chloride intracellular ion channel, CLIC-2, could also dampen the activity of the ryanodine receptor in the heart. (the-scientist.com)
In addition to Ca(2+) channels, can target and regulate the cardiac sarcolemmal Na(+) channel Nav1.5/SCN5A and the K+ channel Kv4.3/KCND3, which contribute to arrhythmogenesis in heart failure. (icr.ac.uk)

I began my research, which is focussed on the genetics of inherited cardiac conditions, in 2014. (manchester.ac.uk)

Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome. (cdc.gov)

Transient receptor potential melastatin member 4 (TRPM4), a non-selective cation channel, mediates cell membrane depolarization in immune response, insulin secretion, neurological disorders, and cancer. (frontiersin.org)
The most frequent automatic rhythm is caused by increased spontaneous depolarization of phase 4 of the cardiac action potential. (medscape.com)

Pluripotent cardiac progenitor cells resident in myocardium offer a potentially promising role in promoting recovery from injury. (stanford.edu)

The transient receptor potential melastatin 4 (TRPM4) protein is an intracellular Ca 2+ -activated non-selective cation channel, which is impermeable to Ca 2+ . (frontiersin.org)
However, the physiological role for this channel in cardiac function remains unclear. (frontiersin.org)
Ryanodine is an ion channel, embedded in an internal membrane within the muscle cell, that surrounds a pocket of calcium ions. (the-scientist.com)
In insect, Drosophila melanogaster ryanodine receptor ( DmRyR ) cDNA was cloned from lava and the physical features of DmRyR single channel were characterized with in vitro overexpression system [ 16 ]. (biomedcentral.com)
Functional states of the sodium channel (closed, open, and inactivated) and their structure help to understand the cardiac regulation processes. (bvsalud.org)

The protein encoded by this gene is prenylated at its C-terminus, and localizes to the cytoplasm and plasma membrane. (cancerindex.org)

Unlike some animal species (eg, pigs), humans appear to inherit all of the genes associated with MH susceptibility in an autosomal dominant manner. (medscape.com)

Despite recent findings regarding the functional implications of TRPM4 in cardiac diseases, the molecular and cellular mechanisms leading to altered conduction are poorly understood. (frontiersin.org)

Cardiomyocytes rely on a highly specialized subcellular architecture to maintain normal cardiac function. (duke.edu)

Dulhunty and her colleagues were studying how the ryanodine receptor, a type of protein receptor, functions in muscle cells. (the-scientist.com)
I could see immediately that the glutathione transferase began to inhibit the cardiac muscle receptor's activity," she recalls. (the-scientist.com)
Within a few months, Dulhunty and her colleagues published their first paper on the role of the omega class glutathione S-transferase, GSTO1-1, in inhibiting the ryanodine receptor in cardiac muscle and in increasing the activity of the skeletal muscle ryanodine receptor. (the-scientist.com)
The mechanisms of cellular excitability and propagation of electrical signals in the cardiac muscle are very important functionally and pathologically. (bvsalud.org)
There are areas in the cardiac muscle with anatomical and functional differentiation that present automatism, thus subjecting the rest of the fibers to their own rhythm. (bvsalud.org)

These studies enhance our understanding of hypoxia-mediated gene regulation and will have broad applications for the treatment of myopathic diseases. (elsevierpure.com)

Mechanistically, hyperpolarization-activated cyclic nucleotide-gated 4 (HCN4) channels form functional microdomains almost exclusively with ACI, while ryanodine receptor and L-type Ca2+ channels likely compartmentalize with ACI and other AC isoforms. (ox.ac.uk)

This protein is part of a family of ryanodine receptors, which form channels that transport positively charged calcium atoms (calcium ions) within cells. (medlineplus.gov)
The ryanodine receptors (RyRs) are a family of Ca 2+ channels that mediate the release of Ca 2+ from intracellular Ca 2+ storage organelles. (tocris.com)
Calcium-induced activation of calmodulin regulates and modulates the function of cardiac ion channels. (nih.gov)

This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. (nih.gov)
This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. (cancerindex.org)
The mouse Pitx2 gene encodes three distinct protein isoforms (Pitx2a, b, c), and Pitx2c plays a determinant role in left-right atrium signaling from early somitogenesis onward 5 . (nature.com)

Much work has been done to identify susceptibility genes in schizophrenia and bipolar disorder. (semanticscholar.org)

2: autosomal recessive), and an alphabet based on the order of discovery of linkage to a specific, certain genetic locus or a new disease gene. (medscape.com)
Many mutations associated with MH have been identified in RYR1, the gene coding for RyR1 in humans, and more are discovered as additional patients are identified and genetic mapping becomes more sophisticated. (medscape.com)

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RYR231

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