Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype. (1/23)

BACKGROUND: The ECG features of Andersen-Tawil syndrome (ATS) patients with KCNJ2 mutations (ATS1) have not been systematically assessed. This study aimed to define ECG features of KCNJ2 mutation carriers, to determine whether characteristic T-U-wave patterns exist, and to establish whether T-U patterns predict the ATS1 genotype. METHODS AND RESULTS: In phase I, evaluation of T-U morphology in ECGs of 39 KCNJ2 mutation carriers identified characteristic T-U patterns: prolonged terminal T downslope, wide T-U junction, and biphasic and enlarged U waves. In phase II, ATS1 genotype prediction by T-U pattern was evaluated in the next 147 ECGs (57 other KCNJ2 mutation carriers, 61 unaffected family members, and 29 ATS patients without KCNJ2 mutations), with a sensitivity of 84% and specificity of 97%. Characteristic T-U patterns were present in 91% (87/96), in whom an enlarged U wave was predominant (73%). In phase III, QTc, QUc, and T- and U-wave duration/amplitude were compared in the 96 ATS1, 29 non-KCNJ2 ATS, and 75 normal subjects. In ATS1 patients, QUc, U-wave duration and amplitude, and QTc were all increased (P<0.001), but median QTc and interquartile range (IQR) were just 440 ms (IQR, 28 ms) compared with 420 ms (IQR, 20 ms) in normal subjects and 425 ms (IQR, 48 ms) in ATS non-KCNJ2 patients. CONCLUSIONS: In ATS1 patients, gene-specific T-U-wave patterns resulting from decreased IK1 owing to KCNJ2 mutations can aid diagnosis and direct genotyping. The normal QTc, distinct ECG, and other clinical features distinguish ATS1 from long-QT syndrome, and it is best designated as ATS1 rather than LQT7.  (+info)

Cellular basis for electrocardiographic and arrhythmic manifestations of Andersen-Tawil syndrome (LQT7). (2/23)

BACKGROUND: Andersen-Tawil syndrome, a skeletal muscle syndrome associated with periodic paralysis and long QT intervals on the ECG, has been linked to defects in KCNJ2, the gene encoding for the inward rectifier potassium channel (I(K1).) OBJECTIVES: The purpose of this study was to examine the cellular mechanisms underlying the ECG and arrhythmic manifestations of Andersen-Tawil syndrome. METHODS: To investigate the effects of KCNJ2 loss-of-function mutations responsible for Andersen-Tawil syndrome, we used barium chloride (BaCl(2)) to inhibit I(K1) in arterially perfused wedge preparation. Transmembrane action potentials (APs) were simultaneously recorded from endocardial, midmyocardial, and epicardial cells, together with a transmural ECG. RESULTS: BaCl(2) (1 to 30 microM) produced a concentration-dependent prolongation of the QT interval, secondary to a homogeneous prolongation of AP duration of the three cell types. QT interval was prolonged without an increase in transmural dispersion of repolarization (TDR). Low extracellular potassium (2.0 mM), isoproterenol (20-50 nM), and an abrupt increase in temperature (36 degrees C-39 degrees C) in the presence of 10 microM BaCl(2) did not significantly increase TDR but increased ectopic extrasystolic activity. Early afterdepolarizations were not observed under any condition. Spontaneous torsades de pointes arrhythmias were never observed, nor could they be induced with programmed electrical stimulation under any of the conditions studied. CONCLUSION: Our results provide an understanding of why QT prolongation associated with Andersen-Tawil syndrome is relatively benign in the clinic and provide further support for the hypothesis that the increase in TDR, rather than QT interval, is responsible for development of torsades de pointes.  (+info)

Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome. (3/23)

BACKGROUND: Andersen-Tawil syndrome (ATS) is a rare inherited disorder, characterised by periodic paralysis, cardiac dysarrhythmias, and dysmorphic features, and is caused by mutations in the gene KCNJ2, which encodes the inward rectifier potassium channel, Kir2.1. This study sought to analyse KCNJ2 in patients with familial ATS and to determine the functional characteristics of the mutated gene. METHODS AND RESULTS: We screened a family with inherited ATS for the mutation in KCNJ2, using direct DNA sequencing. A missense mutation (T75R) of Kir2.1, located in the highly conserved cytoplasmic N-terminal domain, was identified in three affected members of this family. Using the Xenopus oocyte expression system and whole cell voltage clamp analyses, we found that the T75R mutant was non-functional and possessed a strong dominant negative effect when co-expressed with the same amount of wild type Kir2.1. Transgenic (Tg) mice expressing the mutated form of Kir2.1 in the heart had prolonged QTc intervals compared with mice expressing the wild type protein. Ventricular tachyarrhythmias were observed in 5 of 14 T75R-Tg mice compared with 1 of 7 Wt-Tg and none of 6 non-transgenic littermates. In three of five T75R-Tg mice with ventricular tachycardia, their ECG disclosed bidirectional tachycardia as in our proband. CONCLUSIONS: The in vitro studies revealed that the T75R mutant of Kir2.1 had a strong dominant negative effect in the Xenopus oocyte expression system. It still preserved the ability to co-assemble and traffic to the cell membrane in mammalian cells. For in vivo studies, the T75R-Tg mice had bidirectional ventricular tachycardia after induction and longer QT intervals.  (+info)

Electrophysiological mechanisms of ventricular arrhythmias in relation to Andersen-Tawil syndrome under conditions of reduced IK1: a simulation study. (4/23)

Patients with Andersen-Tawil syndrome (ATS) mostly have mutations on the KCNJ2 gene, producing loss of function or dominant-negative suppression of the inward rectifier K(+) channel Kir2.1. However, clinical manifestations of ATS including dysmorphic features, periodic paralysis (hypo-, hyper-, or normokalemic), long QT, and ventricular arrhythmias (VAs) are considerably variable. Using a modified dynamic Luo-Rudy simulation model of cardiac ventricular myocytes, we attempted to elucidate mechanisms of VA in ATS by analyzing effects of the inward rectifier K(+) channel current (I(K1)) on the action potential (AP). During pacing at 1.0 Hz with extracellular K(+) concentration ([K(+)](o)) at 4.5 mM, a stepwise 10% reduction of Kir2.1 channel conductance progressively prolonged the terminal repolarization phase of the AP along with gradual depolarization of the resting membrane potential (RMP). At 90% reduction, early afterdepolarizations (EADs) became inducible and RMP was depolarized to -52.0 mV (control: -89.8 mV), followed by emergence of spontaneous APs. Both EADs and spontaneous APs were facilitated by a decrease in [K(+)](o) and suppressed by an increase in [K(+)](o). Simulated beta-adrenergic stimulation enhanced delayed afterdepolarizations (DADs) and could also facilitate EADs as well as spontaneous APs in the setting of low [K(+)](o) and reduced Kir2.1 channel conductance. In conclusion, the spectrum of VAs in ATS may include 1) triggered activity mediated by EADs and/or DADs and 2) abnormal automaticity manifested as spontaneous APs. These VAs can be aggravated by a decrease in [K(+)](o) and beta-adrenergic stimulation and may potentially induce torsade de pointes and cause sudden death. In patients with ATS, the hypokalemic form of periodic paralysis should have the highest propensity to VAs, especially during physical activity.  (+info)

Modeling of IK1 mutations in human left ventricular myocytes and tissue. (5/23)

Elucidation of the cellular basis of arrhythmias in ion channelopathy disorders is complicated by the inherent difficulties in studying human cardiac tissue. Thus we used a computer modeling approach to study the mechanisms of cellular dysfunction induced by mutations in inward rectifier potassium channel (K(ir))2.1 that cause Andersen-Tawil syndrome (ATS). ATS is an autosomal dominant disorder associated with ventricular arrhythmias that uncommonly degenerate into the lethal arrhythmia torsade de pointes. We simulated the cellular and tissue effects of a potent disease-causing mutation D71V K(ir)2.1 with mathematical models of human ventricular myocytes and a bidomain model of transmural conduction. The D71V K(ir)2.1 mutation caused significant action potential duration prolongation in subendocardial, midmyocardial, and subepicardial myocytes but did not significantly increase transmural dispersion of repolarization. Simulations of the D71V mutation at shorter cycle lengths induced stable action potential alternans in midmyocardial, but not subendocardial or subepicardial cells. The action potential alternans was manifested as an abbreviated QRS complex in the transmural ECG, the result of action potential propagation failure in the midmyocardial tissue. In addition, our simulations of D71V mutation recapitulate several key ECG features of ATS, including QT prolongation, T-wave flattening, and QRS widening. Thus our modeling approach faithfully recapitulates several features of ATS and provides a mechanistic explanation for the low frequency of torsade de pointes arrhythmia in ATS.  (+info)

Andersen syndrome: an association of periodic paralysis, cardiac arrhythmia and dysmorphic abnormalities. (6/23)

Andersen syndrome (AS) is a rare disease characterized by the presence of periodic paralysis (PP), cardiac arrhythmia and dysmorphic abnormalities. We report herein the first Brazilian patient presenting AS who also had obesity, obstructive sleep apnea (OSA) and daytime sleepiness. Clinical and genetic evaluation of six family members demonstrated that four had dysmorphic abnormalities but none had PP or cardiac arrhythmia. Sequencing of KCNJ2 revealed the R218W mutation in the index patient and her 6-year-old daughter, who presented dysmorphic abnormalities (micrognathia, clinodactyly of fourth and fifth fingers, short stature) and OSA. Three relatives had clinodactyly as the only manifestation but the R218W mutation was absent, suggesting that this characteristic may be influenced by another gene. OSA accompanied by dysmorphic features may be related to AS.  (+info)

An andersen-Tawil syndrome mutation in Kir2.1 (V302M) alters the G-loop cytoplasmic K+ conduction pathway. (7/23)

Loss-of-function mutations in the inward rectifier potassium channel, Kir2.1, cause Andersen-Tawil syndrome (ATS-1), an inherited disorder of periodic paralysis and ventricular arrhythmias. Here, we explore the mechanism by which a specific ATS-1 mutation (V302M) alters channel function. Val-302 is located in the G-loop, a structure that is believed to form a flexible barrier for potassium permeation at the apex of the cytoplasmic pore. Consistent with a role in stabilizing the G-loop in an open conformation, we found the V302M mutation specifically renders the channel unable to conduct potassium without altering subunit assembly or attenuating cell surface expression. As predicted by the position of the Val-302 side chain in the crystal structure, amino acid substitution analysis revealed that channel activity and phosphatidylinositol 4,5-bisphosphate (PIP2) sensitivity are profoundly sensitive to alterations in the size, shape, and hydrophobicity of side chains at the Val-302 position. The observations establish that the Val-302 side chain is a critical determinant of potassium conduction through the G-loop. Based on our functional studies and the cytoplasmic domain crystal structure, we suggest that Val-302 may influence PIP2 gating indirectly by translating PIP2 binding to conformational changes in the G-loop pore.  (+info)

Sudden cardiac death in Andersen-Tawil syndrome. (8/23)

Andersen-Tawil syndrome (ATS) is an autosomal dominant or sporadic disorder characterized by periodic paralysis, dysmorphic features, and ventricular arrhythmias. Although ventricular tachycardia burden is quite high sudden cardiac death in ATS is rare. We describe a case with sudden cardiac death due to electrical storm a few days after ICD implantation in KCNJ2 mutation-negative ATS.  (+info)

*Kir2.1

GeneReviews/NCBI/NIH/UW entry on Andersen-Tawil syndrome OMIM entries on Anderson-Tawil syndrome KCNJ2 protein, human at the US ... A defect in this gene is associated with Andersen-Tawil syndrome. A mutation in the KCNJ2 gene has also been shown to cause ... Donaldson MR, Yoon G, Fu YH, Ptacek LJ (2004). "Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and ... 2002). "Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome". Proc. Natl. Acad. ...

*Andersen-Tawil syndrome

... , also called Andersen syndrome and Long QT syndrome 7, is a form of long QT syndrome. It is a rare ... Furthermore it causes symptoms which are similar to Long QT syndrome, which Andersen's is also known as. Long QT syndrome, a ... in addition to the symptoms of long QT syndrome. There are also physical abnormalities associated with Andersen-Tawil syndrome ... Kim, JB; Chung, KW (December 2009). "Novel de novo Mutation in the KCNJ2 Gene in a Patient With Andersen-Tawil Syndrome". ...

*Ellen Damgaard Andersen

... is a physcian and researcher who described Andersen Syndrome. This autosomal, dominant trait and the ... A new syndrome?". Acta paediatrica Scandinavica. 60 (5): 559-64. doi:10.1111/j.1651-2227.1971.tb06990.x. PMID 4106724. ... Andersen ED, Krasilnikoff PA, Overvad H (1971). "Intermittent muscular weakness, extrasystoles, and multiple developmental ... syndrome was described as a condition where ventricular arrhythmias, with an accompanying a variant of Long QT interval, ...

*Inward-rectifier potassium channel

Andersen's syndrome is a rare condition caused by multiple mutations of Kir2.1. Depending on the mutation, it can be dominant ... Bartter's syndrome can be caused by mutations in Kir channels. This condition is characterized by the inability of kidneys to ... EAST/SeSAME syndrome may be caused by mutations of KCNJ10.[citation needed] Neuroscience portal G protein-coupled inwardly- ... Peng J, Xie L, Stevenson FF, Melov S, Di Monte DA, Andersen JK (November 2006). "Nigrostriatal dopaminergic neurodegeneration ...

*KCNJ12

... implication for Andersen's syndrome". Proceedings of the National Academy of Sciences of the United States of America. 99 (12 ... "Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome". Proceedings of the National ... The gene is located within the Smith-Magenis syndrome region on chromosome 17. KCNJ12 has been shown to interact with: APBA1, ...

*KCNJ4

"Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome". Proc. Natl. Acad. Sci. U.S. ...

*KCNJ6

... implication for Andersen's syndrome". Proc. Natl. Acad. Sci. U.S.A. 99 (12): 8430-5. doi:10.1073/pnas.122682899. PMC 123084 . ... Mutation in KCNJ6 gene has been proposed to be the cause of Keppen-Lubinsky Syndrome (KPLBS). Potassium channels are present in ... "Keppen-Lubinsky Syndrome Is Caused by Mutations in the Inwardly Rectifying K+ Channel Encoded by KCNJ6". The American Journal ... "Gene identification in 1.6-Mb region of the Down syndrome region on chromosome 21". Genome Res. 7 (1): 47-58. doi:10.1101/gr. ...

*Louis Ptáček

"Electrocardiogram in Andersen-Tawil syndrome. New electrocardiographic criteria for diagnosis of type-1 Andersen-Tawil syndrome ... His current research mainly focuses on identifying the genes involved with Andersen-Tawil syndrome (ATS). Ptáček's lab have ... He had a large role in discovering that hyperkalemic periodic paralysis, paramyotonia congenita, Andersen-Tawil syndrome, and ... Nguyen, Hoai-Linh; Pieper, Gerard H.; Wilders, Ronald (2013-12-05). "Andersen-Tawil syndrome: clinical and molecular aspects". ...

*KCNJ3

Implication for Andersen's syndrome". Proc. Natl. Acad. Sci. U.S.A. 99 (12): 8430-5. doi:10.1073/pnas.122682899. PMC 123084 . ...

*Long QT syndrome

LQT7 Andersen-Tawil syndrome is an autosomal-dominant form of LQTS associated with skeletal deformities. It involves mutation ... Long QT syndrome at Curlie (based on DMOZ) Thomson, Clare; Wright, Paul (2014-10-15). "Long QT syndrome". The Pharmaceutical ... "Long QT syndrome - Symptoms". Thomson, Clare; Wright, Paul (2014-10-15). "Long QT syndrome". The Pharmaceutical Journal. 293 ( ... Cardiac action potential Short QT syndrome "Long QT syndrome". Genetic and Rare Diseases Information Center (GARD) - an NCATS ...

*List of circulatory system conditions

Accelerated idioventricular rhythm Andersen-Tawil syndrome (Andersen cardiodysrhythmic periodic paralysis, Andersen syndrome, ... Lenegre-Lev syndrome) Long QT syndrome Lown-Ganong-Levine syndrome Multifocal atrial tachycardia Wolff-Parkinson-White syndrome ... "Andersen-Tawil syndrome". Genetics Home Reference. U.S. National Library of Medicine. 2009-12-21. Retrieved 24 December 2009. ... "Phenotypic characterization of a large European family with Brugada syndrome displaying a sudden unexpected death syndrome ...

*Syndrome

This is especially true of inherited syndromes. For example, Down syndrome, Wolf-Hirschhorn syndrome, and Andersen syndrome are ... autonomic syndrome, hostility syndrome, manic syndrome, apathy syndrome. Also well known Münchausen syndrome, Ganser syndrome, ... oneiroid syndrome), hysteric syndrome, neurotic syndrome, Korsakoff's syndrome, hypochondriacal syndrome, paranoiac syndrome, ... asthenic syndrome, obsessive syndrome, emotional syndromes (for example, manic syndrome, depressive syndrome), Cotard's ...

*Periodic paralysis

Andersen-Tawil syndrome (Online Mendelian Inheritance in Man (OMIM) 170390), a form of periodic paralysis that includes ... Treatment of periodic paralysis in Andersen-Tawil syndrome is similar to that for other types. However, pacemaker insertion or ... "Novel de novo Mutation in the KCNJ2 gene in a Patient with Andersen-Tawil Syndrome". Pediatric Neurology. 41 (6): 464-466. doi: ... If a patient has hypo or hyper periodic paralysis they have a 50% chance of getting Andersen-Tawil. They just have to have the ...

*List of eponymously named diseases

James Meschter Anders Andersen disease - Dorothy Andersen Andersen-Tawil syndrome (a.k.a. Andersen syndrome) - Ellen Andersen, ... Hakaru Hashimoto Havisham syndrome (a.k.a. Diogenes syndrome, Miss Havisham syndrome, and Plyushkin syndrome) - Miss Havisham, ... Havisham syndrome, Miss Havisham syndrome, Plyushkin syndrome)- Diogenes of Sinope (the particular usage, Diogenes syndrome, is ... syndrome - Moritz Simmonds Sipple's syndrome - John H. Sipple Sjögren's syndrome - Henrik Sjögren Sjögren-Larsson syndrome - ...

*List of MeSH codes (C14)

... long qt syndrome MeSH C14.280.067.565.070 --- andersen syndrome MeSH C14.280.067.565.440 --- jervell-lange nielsen syndrome ... behcet syndrome MeSH C14.907.940.110 --- Churg-Strauss syndrome MeSH C14.907.940.560 --- mucocutaneous lymph node syndrome MeSH ... pre-excitation syndromes MeSH C14.280.067.780.560 --- lown-ganong-levine syndrome MeSH C14.280.067.780.770 --- pre-excitation, ... klippel-trenaunay-weber syndrome MeSH C14.907.077.850 --- sturge-weber syndrome MeSH C14.907.109.139 --- aortic aneurysm MeSH ...

*List of syndromes

... pain syndromes Andermann syndrome Andersen-Tawil syndrome Androgen insensitivity syndrome Angelman syndrome ANOTHER syndrome ... syndrome Wende-Bauckus syndrome Werner syndrome Wernicke-Korsakoff syndrome West syndrome Westerhof syndrome Wet lung syndrome ... syndrome Hero syndrome Heyde's syndrome High-rise syndrome HIV/AIDS Holiday heart syndrome Holt-Oram syndrome Hopkins syndrome ... syndrome Shone's syndrome Short anagen syndrome Short bowel syndrome short limb syndrome Short man syndrome Short QT syndrome ...

*Mare reproductive loss syndrome

Andersen, PK; Klein, JP (January 1997). "The role of frailty models and accelerated failure time models in describing ... Mare reproductive loss syndrome (MRLS) is a syndrome consisting of equine abortions and three related nonreproductive syndromes ... the syndrome was named the mare reproductive loss syndrome (MRLS). MRLS was defined as including four syndromes: (1) EFLs, (2) ... MRLS was initially characterized by four syndromes: (1) EFLs, (2) LFLs and the nonreproductive syndromes, (3) unilateral ...

*Failed back syndrome

Andersen T, et al. (2001). "Smoking as a Predictor of Negative Outcome in Lumbar Spinal Fusion". Spine. 26 (23): 2623-28. doi: ... Failed back syndrome or post-laminectomy syndrome is a condition characterized by chronic pain following back surgeries.[ ... The term "post-laminectomy syndrome" is used by some doctors to indicate the same condition as failed back syndrome. The ... Failed back syndrome (FBS) is a well-recognized complication of surgery of the lumbar spine. It can result in chronic pain and ...

*Syndrome of inappropriate antidiuretic hormone secretion

Kwon, TH; Hager, H; Nejsum, LN; Andersen, ML; Frøkiaer, J; Nielsen, S (May 2001). "Physiology and pathophysiology of renal ... Because not all people with this syndrome have elevated levels of vasopressin, the term "syndrome of inappropriate antidiuresis ... Schwartz-Bartter syndrome at Who Named It? Feldman, BJ; Rosenthal, SM; Vargas, GA; Fenwick, RG; Huang, EA; Matsuda-Abedini, M; ... Syndrome of inappropriate antidiuretic hormone secretion (SIADH) is characterized by excessive unsuppressible release of ...

*Angelman syndrome

Andersen WH, Rasmussen RK, Strømme P (2001). "Levels of cognitive and linguistic development in Angelman syndrome: a study of ... Angelman Syndrome Foundation US Angelman Syndrome Association AUS Angelman Syndrome Support Education & Research Trust - UK ... Angelman syndrome is typically due to a new mutation rather than one inherited from a person's parents. Angelman syndrome is ... Angelman syndrome is not a degenerative syndrome, and thus people with AS may improve their living skills with support. ...

*Pacemaker syndrome

"Pacemaker Syndrome: Treatment & Medication - eMedicine Cardiology". Andersen HR, Thuesen L, Bagger JP, Vesterlund T, Thomsen PE ... Studies have shown that patients with Pacemaker syndrome and/or with sick sinus syndrome are at higher risk of developing fatal ... and the understanding of the cause of pacemaker syndrome is still under investigation. In a general sense, pacemaker syndrome ... The name pacemaker syndrome was first coined by Erbel in 1979. Since its first discovery, there have been many definitions of ...

*Mild androgen insensitivity syndrome

Rajpert-De Meyts E, Leffers H, Petersen JH, Andersen AG, Carlsen E, Jørgensen N, Skakkebaek NE (January 2002). "CAG repeat ... Mild androgen insensitivity syndrome (MAIS) is a condition that results in a mild impairment of the cell's ability to respond ... Androgen insensitivity syndrome is the largest single entity that leads to 46,XY undermasculinization. Individuals with mild ( ... MAIS is one of three types of androgen insensitivity syndrome, which is divided into three categories that are differentiated ...

*Lisbeth Zornig Andersen

She is the former CEO of the socioeconomic business Specialisterne, which employs people with Asperger Syndrome as IT testers. ... Lisbeth Zornig Andersen grew up in a lower class family in Nakskov, Denmark. Here she suffered under sexual abuse and child ... Lisbeth Zornig Andersen is predominantly known as an author, activist, and debater in the area of social policy. She is a ... Lisbeth Zornig Andersen became famous in Denmark after the documentary My childhood in hell (original title: Min barndom i ...

*List of MeSH codes (C16)

... andersen syndrome MeSH C16.320.565.618.815 --- pseudohypoparathyroidism MeSH C16.320.565.618.815.815 --- ... branchio-oto-renal syndrome MeSH C16.131.260.190 --- cri-du-chat syndrome MeSH C16.131.260.210 --- de lange syndrome MeSH ... branchio-oto-renal syndrome MeSH C16.320.180.190 --- cri-du-chat syndrome MeSH C16.320.180.210 --- de lange syndrome MeSH ... cockayne syndrome MeSH C16.131.077.262 --- cri-du-chat syndrome MeSH C16.131.077.272 --- de lange syndrome MeSH C16.131.077.327 ...

*HLA-DR53

Morling N, Andersen V, Fugger L, et al. (1991). "Immunogenetics of rheumatoid arthritis and primary Sjögren's syndrome: DNA ...

*CDC25C

Andersen JL, Planelles V (2005). "The role of Vpr in HIV-1 pathogenesis". Curr. HIV Res. 3 (1): 43-51. doi:10.2174/ ... a causative agent of the AIDS-related insulin resistance/lipodystrophy syndrome?". Ann. N. Y. Acad. Sci. 1024: 153-67. doi: ...
Andersen-Tawil Syndrome is a genetic condition that causes periods of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and intellectual and developmental abnormalities. Other features can include low-set ears, widely spaced eyes, small mandible, fifth-digit clinodactyly, syndactyly, short stature, and scoliosis. Speak to a genetic counselor or a medical geneticist if you have questions about Andersen-Tawil syndrome. ...
Andersen-Tawil syndrome, also called Andersen syndrome and Long QT syndrome 7, is a form of long QT syndrome. It is a rare genetic disorder, and is inherited in an autosomal dominant pattern and predisposes patients to cardiac arrhythmias. Jervell and Lange-Nielsen syndrome is a similar disorder which is also associated with sensorineural hearing loss.[citation needed] It was first described by Ellen Damgaard Andersen. A triad of hypokalemic periodic paralysis, potentially fatal cardiac ventricular ectopy and characteristic physical features is known as Anderson-Tawil Syndrome. It affects the heart, symptoms are a disruption in the rhythm of the hearts lower chambers (ventricular arrhythmia) in addition to the symptoms of long QT syndrome. There are also physical abnormalities associated with Andersen-Tawil syndrome, these typically affect the head, face, and limbs. These features often include an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers ...
Introduction: Andersen-Tawil syndrome (ATS) due to Kir2.1mutations typically manifests as periodic paralysis, cardiac arrhythmias and developmental abnormalities but is often difficult to diagnose clinically. This study was undertaken to determine whether sarcolemmal dysfunction could be identified with muscle velocity recovery cycles (MVRCs). Methods: Eleven genetically confirmed ATS patients and 20 normal controls were studied. MVRCs were recorded with 1, 2, and 5 conditioning stimuli and with single conditioning stimuli during intermittent repetitive stimulation at 20 Hz, in addition to the long exercise test. Results: ATS patients had longer relative refractory periods (P , 0.0001) and less early supernormality, consistent with membrane depolarization. Patients had reduced enhancement of late supernormality with 5 conditioning stimuli (P , 0.0001), and less latency reduction during repetitive stimulation (P , 0.001). Patients were separated completely from controls by combining MVRC and ...
More than 60 mutations in the KCNJ2 gene have been found to cause Andersen-Tawil syndrome, a disorder characterized by episodes of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and physical abnormalities affecting the face, other parts of the head, and the limbs. Most of the mutations change a single protein building block (amino acid) in the KCNJ2 protein.. Mutations in the KCNJ2 gene lead to the production of a nonfunctional potassium channel. Some mutations change the shape of the channel so it cannot transport potassium ions, while other mutations prevent the channels from being inserted correctly into the cell membrane. Many KCNJ2 mutations prevent PIP2 from effectively binding to and activating potassium channels. If the KCNJ2 protein is unable to bind to PIP2, the channels remain closed and potassium ions are unable to flow across the cell membrane. Researchers believe that problems with PIP2 binding are a major cause of Andersen-Tawil syndrome.. A loss of ...
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ATS is an ion channel disorder that causes episodes of muscle weakness and potentially life-threatening heart arrhythmias. The majority of ATS cases are caused by a mutation in the KCNJ2 gene, which is linked to potassium channels in the heart, brain, and skeletal muscle; other cases are presumed to be caused by an as yet undetermined gene lesion. To date, the treatment for ATS has been largely anecdotal, and no treatments have been formally assessed in a controlled clinical trial. This study will determine whether potassium supplements and/or acetazolamide, which is a diuretic medication, affect the duration of muscle weakness and heart rhythm abnormalities in people with ATS.. Participation in this study will last about 11 months. Participants will first attend a 3-day inpatient visit that will include a medical history, physical examination, blood work, heart rhythm testing by an electrocardiogram (ECG) and Holter monitor, strength testing, a health questionnaire, and daily potassium ...
Andersen-Tawil syndrome (ATS) is a rare autosomal dominant channelopathy characterized by periodic paralysis, cardiac dysrhythmias, and distinct facial and skeletal characteristics, that may be variably present in the affected members. Mutations in the KCNJ2 and KCNJ5 gene have been associated with this disorder. We describe a family in which several members presented with different ATS phenotypes. The proband, a 4-year-old boy, presented with recurrent episodes of muscle weakness from an early age; two siblings suffered cardiac arrhythmia but had never experienced episodes of paralysis; their mother reported occasional muscle pain after exercise and unspecified cardiac arrhythmias ...
Periodic paralysis is a rare groups of conditions. It causes occasional episodes of severe muscle weakness. The most common types of periodic paralysis are hypokalemic, hyperkalemic and Andersen-Tawil syndrome. Less common forms include paramyotonia congenita von Eulenburg, thyrotoxic, distal renal tubular acidosis, X-linked episodic muscle weakness syndrome, and congenital myasthenic syndromes.
The Kir2.1 inward-rectifier potassium ion channel is encoded by the KCNJ2 gene. A defect in this gene is associated with Andersen-Tawil syndrome. A mutation in the KCNJ2 gene has also been shown to cause short QT syndrome. In neurogenetics, Kir2.1 is used in Drosophila research to inhibit neurons, as overexpression of this channel will hyperpolarize cells. In optogenetics, a trafficking sequence from Kir2.1 has been added to halorhodopsin to improve its membrane localization. The resulting protein eNpHR3.0 is used in optogenetic research to inhibit neurons with light. Expression of Kir2.1 gene in human HEK293 cells induce a transient outward current, creating a steady membrane potential of around -70 mV. Kir2.1 has been shown to interact with: DLG4, Interleukin 16, and TRAK2 GRCh38: Ensembl release 89: ENSG00000123700 - Ensembl, May 2017 GRCm38: Ensembl release 89: ENSMUSG00000041695 - Ensembl, May 2017 "Human PubMed Reference:". "Mouse PubMed Reference:". Raab-Graham KF, Radeke CM, Vandenberg ...
Results From a total of 582 patients identified, 286 had myotonia congenita, 70 paramyotonia congenita, 23 sodium-channel myotonias, 97 hypokalemic PP, 66 hyperkalemic PP, four normokalemic PP, and 36 Andersen-Tawil syndrome (ATS). 530 patients were from England, giving a point prevalence of 1/100 000. Significant allelic heterogeneity was associated with NDM and ATS. However, a limited number of mutations were responsible for most cases. ...
Morten Andersen with his work. Vesod and Morten Andersen are two painters who refuse to let time stand still. While the former works with figures that seem to move like slowed-down frames in an animation (Duchamps Nude Descending a Staircase comes to mind), the latter fractures abstract forms that seem to shape-shift before our eyes. Currently on view at LAs C.A.V.E. Gallery, Vesod and Morten Andersens two-person show "Remix Every Second" is an exploration of the ways the two artists can distort viewers experiences and even perhaps make them reflect on their perceptions of reality. Take a look at some opening night photos from "Remix Every Second" and see the show before it closes on September 6.. ...
See what Ulf Andersen (andersen5900) has discovered on Pinterest, the worlds biggest collection of everybodys favorite things.
In our study we analyzed health care costs of the elderly population in Germany. In order to organize and categorize the multiple factors which may influence health care utilization, we applied the theoretical framework developed by Andersen and Newman which distinguishes predisposing, enabling and need factors.. The main finding of our study is that the need factor of the Andersen model, operationalized through a measure of MM (CIRS-G) and complemented by a measure of mental health status (SF-12 MSC), was the dominant and most consistent predictor of health care costs. In our study a one point increase of the CIRS-G was associated with an increase in total costs of 41 € per 3 months. The finding that higher levels of MM lead to higher health care costs is in line with most comparable studies conducted in elderly populations and emphasizes the relevance of elderlys need of health care. In a systematic review of the international literature, Lehnert et al. [20] found ample evidence of a ...
Glutamate dehydrogenase is essential to sustain neuronal oxidative energy metabolism during stimulation. / Hohnholt, Michaela C; Andersen, Vibe H; Andersen, Jens V; Christensen, Sofie K; Karaca, Melis; Maechler, Pierre; Waagepetersen, Helle S.. In: Journal of Cerebral Blood Flow and Metabolism, 01.01.2017, p. 271678X17714680.. Research output: Research - peer-review › Journal article ...
Astrid Andersen - The Spring/Summer 2014 menswear collection by Astrid Andersen is made up of a mix of sportswear silhouettes and feminine detailing. The unusual col...
PubMed 21908174 Publications 2009. Bergsland J, Lingaas PS, Skulstad H, Hol PK, Halvorsen PS, Andersen R, Småstuen M, Lundblad R, Svennevig J, Andersen K, Fosse E (2009) ...
Increasing Prevalence Despite Decreasing Incidence of Ischemic Heart Disease and Myocardial Infarction A National Register Based Perspective in Denmark, 1980-2009. M.B. Koch, M. Davidsen, L.V. Andersen , K. Juel & G.B. Jensen. Figure 1a INCIDENCE of IHD and AMI Slideshow 1906943 by keran
Curiosidades Incr veis do mundo animal- (11)96424-9997-99366-5003-Bill Andersen Controle de Pragas Urbanas, dedetiza o e dedetizadoras-Treinamentos e Palestras Pagas Urbanas-3427-2276-sp.
Curiosidades Incr veis do mundo animal- (11)96424-9997-99366-5003-Bill Andersen Controle de Pragas Urbanas, dedetiza o e dedetizadoras-Treinamentos e Palestras Pagas Urbanas-3427-2276-sp.
Find your ANDERSEN COMFORT FLOW GRIT 2X3 at Acklands-Grainger. We have been Canadas premiere industrial supplier for over 125 years with superior service and quality.
Lyngbaek, S., Ripa, R. S., Haack-Sørensen, M., Cortsen, A., Kragh, L., Andersen, C. B., Jørgensen, E., Kjær, A., Kastrup, J. & Hesse, B., 1 Mar 2010, In : The international journal of cardiovascular imaging. 26, 3, p. 273-84 12 p.. Research output: Contribution to journal › Journal article › Research › peer-review ...
Here at Andersen Dental Center, we know that people forget their good habits over the holidays. We hope to help you prevent plaque build up with these tips.
Visit Healthgrades for information on Dr. Carlos Andersen, MD Find Phone & Address information, medical practice history, affiliated hospitals and more.
Renewal by Andersen was looking for a new solution for bringing their products to life. FUSE created this animation to display what can be done with this powerful medium.. ...
Visit Healthgrades for information on Dr. Kurt Andersen, MD Find Phone & Address information, medical practice history, affiliated hospitals and more.
See what Maren Andersen (marenandersen86) has discovered on Pinterest, the worlds biggest collection of everybodys favorite things.
Files/Billeder_2013/Top_smal/10.jpg /Files/Billeder_2013/Top_smal/11.jpg /Files/Billeder_2013/Top_smal/12.jpg /Files/Billeder_2013/Top_smal/13.jpg /Files/Billeder_2013/Top_smal/14.jpg /Files/Billeder_2013/Top_smal/15.jpg /Files/Billeder_2013/Top_smal/17.jpg /Files/Billeder_2013/Top_smal/18.jpg /Files/Billeder_2013/Top_smal/19.jpg /Files/Billeder_2013/Top_smal/2.jpg /Files/Billeder_2013/Top_smal/20.jpg /Files/Billeder_2013/Top_smal/21.jpg /Files/Billeder_2013/Top_smal/22.jpg /Files/Billeder_2013/Top_smal/23.jpg /Files/Billeder_2013/Top_smal/24.jpg /Files/Billeder_2013/Top_smal/25.jpg /Files/Billeder_2013/Top_smal/3.jpg /Files/Billeder_2013/Top_smal/4.jpg /Files/Billeder_2013/Top_smal/5.jpg /Files/Billeder_2013/Top_smal/6.jpg /Files/Billeder_2013/Top_smal/7.jpg /Files/Billeder_2013/Top_smal/9.jpg /Files/Billeder_2013/Top_smal/DFTI_Dansk_Familieterapeutisk_Institut_0234.jpg ...
Thanks WAZ. I had never seen them before and didnt know that. I guess my friend liked the way they looked and left them on. Knowing what I do now I think I will do without.
Baseret på Pure, Scopus og Elsevier Fingerprint Engine™ © 2019 Elsevier B.V. Vi bruger cookies til at hjælpe med at tilbyde og forbedre vores service og tilpasse indhold. Ved at fortsætte accepterer du vores brug af cookies. Log ind i Pure (Aalborg Universitet) ...
url=http://www.wtobrand.com/miumiu-wallet1.htm]ビットをバックアップすることを望んで、私はよりスポーティな演出が私のkaのラ(「太陽」はハワイ語で)高設定ダイヤル手と可読性の高いセキュリティストラップシステムとしては見ています。あなたの多くは間違いないように精通しているnatoストラップと呼ばれる(実際には英国のモッズg 10の仕様が、通称「ナトー」ストラップ)。ストラップ腕時計のケースの下のバックでは、一つのバネ棒を破るならば、見るかもしれない失敗の周りにあなたの手首の上で、しかし、それはnatoストラップで活動中に行方不明になることはできない。[/url]. ...
Human, Manganese, Rat, Rats, Cells, Cell, Concentrations, Tissue, Tissues, Adult, Sexual Development, Testes, Inhalation, Fetus, Testosterone, Risks, Brain, Diet, Inhalation Exposures, Liver
ISSNs: 0001-4966. Additional searchable ISSN (Electronic): 0163-0962. A I P Publishing LLC, United States. BFI (2018): BFI-level 2, Scopus rating (2016): CiteScore 1.83 SJR 0.749 SNIP 1.27, ISI indexed (2013): ISI indexed yes, Web of Science (2017): Indexed Yes. Central database. Journal ...
Grant was born last night at 10:17 p.m. He weighed 7 lbs 8 ounces and is 21 inches long. When he was born he was grunting a lot so they took him to the NICU to check him out. He had acidosis which is a metabolic problem. They gave him some IVs and he was breathing really well last night. They kept him in the NICU over night to watch him but he should hopefully be coming out this morning as long as all of his test look good. Her are a few pictures i got of him last night in the NICU. He is very cute ...
ISSNs: 1085-7117. Additional searchable ISSN (Electronic): 1537-2693. Springer New York LLC, United States. BFI (2018): BFI-level 1, Scopus rating (2016): CiteScore 1 SJR 0.802 SNIP 0.83, ISI indexed (2013): ISI indexed yes, Web of Science (2018): Indexed yes. Central database. Journal ...
url=http://www.wtobrand.com/miumiu-wallet1.htm]ビットをバックアップすることを望んで、私はよりスポーティな演出が私のkaのラ(「太陽」はハワイ語で)高設定ダイヤル手と可読性の高いセキュリティストラップシステムとしては見ています。あなたの多くは間違いないように精通しているnatoストラップと呼ばれる(実際には英国のモッズg 10の仕様が、通称「ナトー」ストラップ)。ストラップ腕時計のケースの下のバックでは、一つのバネ棒を破るならば、見るかもしれない失敗の周りにあなたの手首の上で、しかし、それはnatoストラップで活動中に行方不明になることはできない。[/url]. ...
ISSNs: 0022-3751. Additional searchable ISSN (Electronic): 1469-7793. Wiley-Blackwell Publishing Ltd., United Kingdom. Journal ...
Ide Hejlskov Ahr, Lars Bo, jeg tror ikke lige mine drømme kan skabe virkelighed, så ville verden også se for syret ud til at det lige kunne håndteres. Astrofysikeren Anja Andersen sagde det til et foredrag på Folkeuniversitetet for et par år siden, er jeg kommet i tanke om, vist nok. ...
En national løsning på en national udfordring - ledelsesinformation på tværs af regioner. Integreret ledelsesinformation i det første kliniske EPJ system i drift på tværs af regioner. Jakob Steen Andersen,
Sakalauskaite, J., Andersen, S. H., Biagi, P., Borrello, M. A., Cocquerez, T., Colonese, A. C., Dal Bello, F., Girod, A., Heumüller, M., Koon, H., Mandili, G., Medana, C., Penkman, K. E., Plasseraud, L., Schlichtherle, H., Taylor, S., Tokarski, C., Thomas, J., Wilson, J., Marin, F. & 1 others, Demarchi, B., 7 May 2019. Article in eLife ...
Berntzen, Gøril; Andersen, Jan Terje; Ustgård, Kristine; Ustgård, Kristine; Michaelsen, Terje Einar; Mousavi, Darbi Seyed Ali; Mousavi, Seyed Ali; Qian, Julie Dee; Qian, Julie Dee; Kristiansen, Per Eugen; Kristiansen, Per Eugen; Lauvrak, Vigdis; Sandlie, Inger (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2009) ...
Hanssen-Bauer, Audun; Solvang-Garten, Karin; Sundheim, Ottar; Diaz, Javier Pena; Andersen, Sonja Benedikte; Slupphaug, Geir; Krokan, Hans Einar; Wilson, David M.; Akbari, Mansour; Otterlei, Marit. (2011) XRCC1 Coordinates Disparate Responses and Multiprotein Repair Complexes Depending on the Nature and Context of the DNA Damage. Environmental and Molecular Mutagenesis. vol. 52 (8). ...
Berntzen, Gøril; Andersen, Jan Terje; Ustgård, Kristine; Ustgård, Kristine; Michaelsen, Terje Einar; Mousavi, Darbi Seyed Ali; Mousavi, Seyed Ali; Qian, Julie Dee; Qian, Julie Dee; Kristiansen, Per Eugen; Kristiansen, Per Eugen; Lauvrak, Vigdis; Sandlie, Inger (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2009) ...
DABBS Eric r. , YAZAWA Katsukiyo , TANAKA Yasushi , MIKAMI Yuzuru , MIYAJI Makoto , ANDERSEN Susan j. , MORISAKI Naoko , IWASAKI Shigeo , SHIDA Osamu , TAKAGI Hiroaki , KADOWAKI Kiyoshi Journal of antibiotics 48(8), 815-819, 1995-08-25 J-STAGE 参考文献12件 被引用文献2件 ...
Martial arts expert, Mitch Gooch, teaches people how to do Kung Fu and martial arts all from his wheelchair. The 36-year-old British man suffers from a rare illness that causes his whole body to feel like "blocks of ice" and has left him disabled.. "I can only describe it as being frozen. You know you can move but you are just unable to. It literally feels like parts of your body are blocks of ice," Gooch told the Daily Mail.. When Gooch was 24, he woke up one morning fully paralyzed and could not move for a week. The hospital staff previously diagnosed his condition as growing pains before it was revealed he suffered from a rare hereditary illness- Andersen-Tawil syndrome- a type of long QT syndrome.. Andersen-Tawil syndrome is a rare condition and a rare form of periodic paralysis that affects approximately 100 people worldwide. According to the Mayo Clinic, this syndrome can cause episodes of muscle weakness, changes in heart rhythm, and developmental abnormalities. Patients commonly develop ...
Looking for online definition of Andersen's disease in the Medical Dictionary? Andersen's disease explanation free. What is Andersen's disease? Meaning of Andersen's disease medical term. What does Andersen's disease mean?
The company will repurpose a portion of its Bayport facility to serve as a second plant for a growing window product line originally produced at a facility in Texas. "As we continue to grow that business, we need a second manufacturing plant," Lund said. The Minnesota Department of Employment and Economic Development will award Andersen $625,000 from the Minnesota Job Creation Fund if the company meets its goals, according to DEED. The fund is a new pay-for-performance program that provides up to $1 million to businesses after they meet criteria, including minimum requirements for job creation and private investments. The new manufacturing jobs will pay an average of $19 an hour, and the company also will be hiring professionals in such fields as engineering and marketing. Andersen was founded in 1903 in Hudson, Wis., by Danish immigrant Hans Andersen and his family. The company moved to what is now Bayport in 1913 and today employs 9,000 people at sites across North America. It has about 3,000 ...
Shop Andersen Enviro Plus Polyester Fiber Wiper Mat 72 x 48, Southern Pine at Staples. Choose from our wide selection of Andersen Enviro Plus Polyester Fiber Wiper Mat 72 x 48, Southern Pine and get fast & free shipping on select orders.
Hans Christian Andersen. A completely fabricated film biography of the great Danish storyteller (the Danes were gratified that this movie paid tribute to their national hero, but were very annoyed that the scholarly poet was depicted as a vagabond shoemaker), which serves as a vehicle for Frank Loesser songs that recount the famous tales of Thumbelina, the Ugly Duckling, the Kings New Clothes, and the Little Mermaid. In the story, Hans Christian Andersen, a shoemaker, is booted out of his own village by the Town Council at the request of the local schoolmaster, who would rather the children of the village attend school than listen to Hanss fairy tales. Not wishing Hans to undergo any humiliation, his apprentice Peter convinces him to go to Copenhagen, before Hans can find out what the Town Council has decided. Peter goes with him. Once there, Hans is promptly arrested for advertising his profession in front of the Kings statue. He is released through the efforts of Peter and immediately hired by
Here are the nine essential skills for frontline leaders. Business Travel Your international business travelers and expatriates can have instant access to business and social customs about 84 countries through Chicago-based Arthur Andersens CountryNet.com web site. The site offers information in six key areas: relocation, schools, economy and politics, immigration, taxes and resources. Relocation, for example, provides a cultural, economic and business overview, with population statistics, climate conditions, transportation details, entry and visa requirements, currency explanations and personal safety suggestions. The web site also features a link to Andersens and Terra Cognitas new CultureSavvy.com web site, a cross-cultural learning site with more than 44 training modules about working and living abroad. Compensation and Benefits Smaller companies may be able to compete with their larger rivals on the benefits level with the Ehancedbenefits.com web site, based in Elk Grove Village, Ill. ...
We got to see several different angles of the baby - including the brain chambers (weird), arms, legs, belly, butt, etc. This appointment was fun because the ultrasound lasted for about 30 minutes, so we had a lot of time to watch the baby do his thing in there! ...
Schimmel, J., Larsen, K. M., Matic, I., van Hagen, M., Cox, J., Mann, M., Andersen, J. S. & Vertegaal, A. C. O., 2008.. Research output: Contribution to conference without publisher/journal › Conference abstract for conference › Research ...
Grydeland, May; Bergh, Ingunn Holden; Bjelland, Mona; Lien, Nanna; Andersen, Lene Frost; Ommundsen, Yngvar; Klepp, Knut Inge & Anderssen, Sigmund Alfred (2013). Intervention effects on physical activity: the HEIA study - a cluster randomized controlled trial. International Journal of Behavioral Nutrition and Physical Activity. ISSN 1479-5868. 10 . doi: 10.1186/1479-5868-10-17 Vis sammendrag Background: Although school-based interventions to promote physical activity in adolescents have been suggested in several recent reviews, questions have been raised regarding the effects of the strategies and the methodology applied and for whom the interventions are effective. The aim of the present study was to investigate effects of a school-based intervention program: the HEalth in Adolescents (HEIA) study, on change in physical activity, and furthermore, to explore whether potential effects varied by gender, weight status, initial physical activity level and parental education level. Methods: This was a ...
New unstable variants of green fluorescent protein for studies of transient gene expression in bacteria. / Andersen, Jens Bo; Sternberg, Claus; Poulsen, Lars K.; Bjørn, Sara P.; Givskov, Michael Christian; Molin, Søren.. In: Applied and Environmental Microbiology, Vol. 64, No. 6, 1998, p. 2240-2246.. Publication: Research - peer-review › Journal article - Annual report year: 1998 ...
Actually... the real story is that scientists led by Mikkel F. Andersen at the University of Otago in New Zealand used lasers to slow down the frenetic movement (think really really ADHD kids, on crack, then record them running around in a playground, and play it back in your DVD at 8x speed, after drinking 5 red bulls. You would be a tiny step towards understanding what mad little monkeys atoms are) of a group of rubidium-85 atoms, and then capture them inside optical tweezers. The method could catch and isolate atoms 83 percent of the time. Using the optical tweezers - really two lasers acting as a kind of tractor beam - Andersens team was able to hold a single rubidium atom in front of a camera designed for use in space, and snap its picture ...
Health, ... Having a stroke can be a devastating experience and those affected b...Michael Andersens PhD thesis was carried out in collaboration with a ...Fatigue linked to objects or actions ...When interviewing the patients Michael Andersen noticed that they no l...,Stroke,patients,may,benefit,from,new,routines,medicine,medical news today,latest medical news,medical newsletters,current medical news,latest medicine news
My steel ruler is 1m long and therefore not long enough to cut the side of the gusset without having to move it. The trick I use to move the ruler is to place a second ruler (in this case a square) right next to it. You then hold the square in place and slide the ruler down where you want it to be ...
Thorsen, K., Mansilla, F., Schepeler, T., Oster, B., Rasmussen, M. H., Dyrskjot, L., Karni, R., Akerman, M., Krainer, A. R., Laurberg, S., Andersen, C. L., Orntoft, T. F. (2011) Alternative splicing of SLC39A14 in colorectal cancer is regulated by the Wnt pathway. Molecular and Cellular Proteomics, 10 (1). Thorsen, K., Sorensen, K. D., Brems-Eskildsen, A. S., Modin, C., Gaustadnes, M., Hein, A. M. K., Kruhoffer, M., Laurberg, S., Borre, M., Wang, K., Brunak, S., Krainer, A. R., Torring, N., Dyrskjot, L., Andersen, C. L., Orntoft, T. F. (2008) Alternative splicing in colon, bladder, and prostate cancer identified by exon array analysis. Molecular & Cellular Proteomics, 7 (7). pp. 1214-1224. ISSN 1535-9476 ...
Molecular understanding of cancer and cancer progression is at the forefront of many research programs today, and high-throughput array technologies and other modern molecular techniques produce a wealth of molecular data about the stucture, organization, and function of cells, tissues and organisms.
I am grateful to know that his death was peaceful, that he was ready, and that the majority of his family was able to get there to say goodbye before he died. I am sad that I was not able to be there. I am surprised by the intensity of my sadness, since I knew that this day was coming, and I thought I was prepared for it. I have lived a long way from my family for over 8 years now, but even so, I miss him now that I know hes not there anymore. That he wont be there the next time I go home. I feel a long way away from home, and a long way away from my family. ...
So. The verdict is that her shunt really was overdraining, and that it may have been slightly overdraining for quite some time, which is why, when they put it back to the same setting as before, it didnt fix the problem. Dr Jane up at UVa sort of seemed to suggest that our neurosurgeon should have been more vigilant when her head circumference continued to go down on the percentile chart. Of course, at birth it was way above the 95th percentile, but it has gone down and down until it is now apparently in the 50th percentile, which we thought was just great, but apparently that could also be because the shunt was overdraining and the setting should have been changed. Slackers. So then when the setting changed and started draining even more, it was a very painful problem. Seriously painful. I mean, they kept on talking about seizures when we were telling them about Averys episodes here in Roanoke, because her body would go completely rigid from head to toe, sweat would drip from her face and ...
J. M. Castro Cerón, J. Gorosabel, A. J. Castro-Tirado, V. V. Sokolov, V. L. Afanasiev, T. A. Fatkhullin, S. N. Dodonov, V. N. Komarova, A. M. Cherepashchuk, K. A. Postnov, U. Lisenfeld, J. Greiner, S. Klose, J. Hjorth, J. P. U. Fynbo, H. Pedersen, E. Rol, J. Fliri, M. Feldt, G. Feulner, M. I. Andersen, B. L. Jensen, M. D. Pérez Ramírez, F. J. Vrba, A. A. Henden, G. Israelian, N. R. ...
Godoy, P. , Hewitt, N. J. , Albrecht, U. , Andersen, M. E. , Ansari, N. , Bhattacharya, S. , Bode, J. G. , Bolleyn, J. , Borner, C. , Böttger, J. , Braeuning, A. , Budinsky, R. A. , Burkhardt, B. , Cameron, N. R. , Camussi, G. , Cho, C. S. , Choi, Y. J. , Craig Rowlands, J. , Dahmen, U. , Damm, G. & 73 others Dirsch, O., Donato, M. T., Dong, J., Dooley, S., Drasdo, D., Eakins, R., Ferreira, K. S., Fonsato, V., Fraczek, J., Gebhardt, R., Gibson, A., Glanemann, M., Goldring, C. E. P., Gómez-Lechón, M. J., Groothuis, G. M. M., Gustavsson, L., Guyot, C., Hallifax, D., Hammad, S., Hayward, A., Häussinger, D., Hellerbrand, C., Hewitt, P., Hoehme, S., Holzhütter, H. G., Houston, J. B., Hrach, J., Ito, K., Jaeschke, H., Keitel, V., Kelm, J. M., Kevin Park, B., Kordes, C., Kullak-Ublick, G. A., Lecluyse, E. L., Lu, P., Luebke-Wheeler, J., Lutz, A., Maltman, D. J., Matz-Soja, M., McMullen, P., Merfort, I., Messner, S., Meyer, C., Mwinyi, J., Naisbitt, D. J., Nussler, A. K., Olinga, P., Pampaloni, F., ...
Milvae, K. DeRoy, Alexander, J. M., & Strickland, E. A. (2015). Is cochlear gain reduction related to speech-in-babble performance? S. Santurette, T. Dau, J. C. Dalsgaard, L. Tranebjaerg and T. Andersen (Eds.), Proceedings of ISAAR 2015: Characterization, Modelling, Compensation Strategies ...
Andersen, A.; Muntean, F.; Walter, D.; Rue, C.; Armentrout, P.B., Collision-Induced Dissociation and Theoretical Studies of Mg+ Complexes with CO, CO2, NH3, CH4, CH3OH, and C6H6, J. Phys. Chem. A, 2000, 104, 4, 692, https://doi.org/10.1021/jp993031t . 10 matching species were found. For each matching species the following will be displayed: ...
Ellibs Ebookstore - Ebook: Contemporary Challenges in Risk Management - Author: Andersen, Torben Juul (#editor) - Price: 138,25€
ANAHEIM, Calif. -- As the wins keep piling up for the Anaheim Ducks, the belief grows that their fast start is starting to resemble something out of their past. Right winger Corey Perry had a goal and an assist, and rookie goaltender Frederik Andersen stopped 35 shots as the Ducks beat the Vancouver
These conditions, and the fact that Geir has Sami roots have lead S ssa and Geir to work with Sami culture. In 2005 a course was made for building a "Goathi" (a Sami dwelling) with the master of Sami craft: Jon Ole Andersen and they have continued making projects on Sami history, building customs and food. The same year they started building the Thai house. The building was started in collaboration with 10 Thai students from the Land together with local craftsmen, people from the area and people coming to help from elsewhere. The construction has continued up until today and was just finished on the 3rd of August 2008 ready for use by international visitors and local wanderers ...
This receptor is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium. Can form cardiac and smooth muscle-type KATP channels with ABCC9. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation (By similarity).
Probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium or cesium.
Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. KCNJ16 may be involved in the regulation of fluid and pH balance. In the kidney, together with KCNJ10, mediates basolateral K(+) recycling in distal tubules; this process is critical for Na(+) reabsorption at the tubules (PubMed:24561201 ...
The purpose of this study was to identify factors affecting the uptake of MSS by Chinese pregnant women so that suitable policies can be developed to ensure MSS is equally accessible to the whole population of mainland China.. From the univariate analysis, all of the factors chosen according to Andersens behavioral model were associated with MSS utilization, although some were confounding or indirect factors. Four multilevel regression models were applied stepwise to the data, according to the flow of factors of Andersens behavioral model. Major associated factors found through the univariate analysis were included. The results of the multilevel regressions were consistent with Andersens behavioral model. All five kinds of factors (contextual, predisposing, enabling, need, and health behavior) from Andersens behavioral model were found to be associated with MSS utilization. Aside from the respondents demographic characteristics, three intermediate factors, the respondents number of ...
InterPro provides functional analysis of proteins by classifying them into families and predicting domains and important sites. We combine protein signatures from a number of member databases into a single searchable resource, capitalising on their individual strengths to produce a powerful integrated database and diagnostic tool.
InterPro provides functional analysis of proteins by classifying them into families and predicting domains and important sites. We combine protein signatures from a number of member databases into a single searchable resource, capitalising on their individual strengths to produce a powerful integrated database and diagnostic tool.
Birdman barnstormed Belize. As part of an impromptu goodwill trip before training camp, Nuggets forward Chris Andersen spent about 30 hours visiting schools and hospitals Thursday and Friday in the impoverished Central American country.
Star Magazine features Anthony Andersen wearing the iRestore Laser Hair Growth System in the Golden Globes Gifting Suite in the latest March 2017 issue. Anthony likes being Black-ish but he doesnt like being baldish!. ...
Andersen, P. K., Borgan, O, Gill, R. D., Keiding, N. Statistical Models Based on Counting Processes. Springer-Verlag, (1993).. Kalbfleisch, J. D., and R. L. Prentice. The Statistical Analysis of Failure Time Data. 2nd ed. New York: Wiley, (2002).. Per Kragh Andersen and Niels Keiding. Multi-state models for event history analysis. Statistical Methods in Medical Research 2002; 11: 91-115.. Per Kragh Andersen, Steen Z Abildstrom, Susanne Rosthøj. Competing risks as a multi-state model. Statistical Methods in Medical Research 2002; 11: 203-215.. ...
Nearly two years ago, philanthropist Tianqiao Chen emailed Caltech biologist Richard Andersen about the work Andersen was doing to help paralyzed patients operate a prosthetic arm using only their thoughts and intentions. "We had just had a big breakthrough that was published in Science and was reported throughout the world," Andersen recalls. "He saw our work on the BBC, and so he came here to meet with me. We talked for an hour and a half, we exchanged ideas. A month later, he came with his wife, Chrissy Luo, and again, we had a tremendous conversation.". That conversation sparked an idea that became a proposal that led to broader conversations and, last December, to a $115 million gift that-as part of Break Through: The Caltech Campaign-created the Tianqiao and Chrissy Chen Institute for Neuroscience at Caltech. The Chens gift dovetailed perfectly with a key Caltech initiative: to apply Caltechs unique interdisciplinary and computational strengths to the study of the brain, with a ...
When the loose adaptation of Hans Christian Andersens The Snow Queen is re-released by the end of this month, moviegoers will also be able to do karaoke to the soundtracks.
Klionsky, D. J., Abdelmohsen, K., Abe, A., Abedin, M. J., Abeliovich, H., Arozena, A. A., Adachi, H., Adams, C. M., Adams, P. D., Adeli, K., Adhihetty, P. J., Adler, S. G., Agam, G., Agarwal, R., Aghi, M. K., Agnello, M., Agostinis, P., Aguilar, P. V., Aguirre-Ghiso, J., Airoldi, E. M. 及其他2,442, Ait-Si-Ali, S., Akematsu, T., Akporiaye, E. T., Al-Rubeai, M., Albaiceta, G. M., Albanese, C., Albani, D., Albert, M. L., Aldudo, J., Algül, H., Alirezaei, M., Alloza, I., Almasan, A., Almonte-Beceril, M., Alnemri, E. S., Alonso, C., Altan-Bonnet, N., Altieri, D. C., Alvarez, S., Alvarez-Erviti, L., Alves, S., Amadoro, G., Amano, A., Amantini, C., Ambrosio, S., Amelio, I., Amer, A. O., Amessou, M., Amon, A., An, Z., Anania, F. A., Andersen, S. U., Andley, U. P., Andreadi, C. K., Andrieu-Abadie, N., Anel, A., Ann, D. K., Anoopkumar-Dukie, S., Antonioli, M., Aoki, H., Apostolova, N., Aquila, S., Aquilano, K., Araki, K., Arama, E., Aranda, A., Araya, J., Arcaro, A., Arias, E., Arimoto, H., Ariosa, A. ...
Gallo V, Wark PA, Jenab M, Pearce N, Brayne C, Vermeulen R, Andersen PM, Hallmans G, Kyrozis A, Vanacore N, Vahdaninia M, Grote V, Kaaks R, Mattiello A, Bueno-de-Mesquita HB, Peeters PH, Travis RC, Petersson J, Hansson O, Arriola L, Jimenez-Martin JM, Tjønneland A, Halkjær J, Agnoli C, Sacerdote C, Bonet C, Trichopoulou A, Gavrila D, Overvad K, Weiderpass E, Palli D, Quirós JR, Tumino R, Khaw KT, Wareham N, Barricante-Gurrea A, Fedirko V, Ferrari P, Clavel-Chapelon F, Boutron-Ruault MC, Boeing H, Vigl M, Middleton L, Riboli E, Vineis P.: "Prediagnostic body fat and risk of death from amyotrophic lateral sclerosis: The EPIC cohort" Neurology 2013 in press [IF 2011: 8.312]. Valentina Gallo, H Bas Bueno-de-Mesquita, Roel Vermeulen, Peter Andersen, Andreas Kyrozis, Jakob Linseisen, Rudolph Kaaks, Naomi E Allen, Andrew W Roddam, Hendriek C Boshuizen, Petra H Peeters, Domenico Palli, Amalia Mattiello, Sabina Sieri, Rosario Tumino, Juan-Manuel Jiménez-Martín, María José Tormo Díaz, Laudina ...
Working out With Your Dog. "Gradually increase the intensity and duration of exercise over the course of a few weeks," says Andersen. "Be consistent and committed so both you and your dog can build stamina." Exercising with your dog will work better if you do the following:. Let your dog be a dog. "Usually our dogs are allowed to stop and sniff on daily walks, so they will want to do this during more intense jogs or runs," says Andersen. "Before you start running, let your dog have ample time to relieve itself as well as sniff around. During the cooldown after your run, let your dog do this again.". Use a harness and ditch the retractable leash. A harness allows for greater control, and youll want to keep your dog on a short leash.. Do regular paw-checks. "If your dog is new to running, you should stop and check its feet at least every five minutes until you know how much it can handle," says Stordahl. "If the paws look pink or tender, then slow to a walk and head home." Bleeding paws mean a ...
The Mathematics Genealogy Project is in need of funds to help pay for student help and other associated costs. If you would like to contribute, please donate online using credit card or bank transfer or mail your tax-deductible contribution to:. Mathematics Genealogy ...
Pedersen, C. T., Loke, I., Lorentzen, A., Wolf, S., Kamble, M., Kristensen, S. K., Munch, D., Radutoiu, S., Spillner, E., Roepstorff, P., Thaysen-Andersen, M., Stougaard, J. & Dam, S. 2017 (Accepted/In press) In : Plant Journal.. Research output: Research - peer-review › Article ...
The corporate office features central VAV roof top units, providing heating and cooling throughout the office areas with dedicated zoning control for offices and meeting rooms. The GTAC plant houses a central process chiller, compressed air plant, roof top ventilation systems complete with gas radiant heating.. ...
Larsen, P.S., Kamper-Jørgensen, M., Adamson, A., Barros, H., Bonde, J.P., Brescianini, S., Brophy, S., Casas, M., Charles, M.-A., Devereux, G., Eggesbø, M., Fantini, M.P., Frey, U., Gehring, U., Grazuleviciene, R., Henriksen, T.B., Hertz-Picciotto, I., Heude, B., Hryhorczuk, D.O., Inskip, H., Jaddoe, V.W.V., Lawlor, D.A., Ludvigsson, J., Kelleher, C., Kiess, W., Koletzko, B., Kuehni, C.E., Kull, I., Kyhl, H.B., Magnus, P., Momas, I., Murray, D., Pekkanen, J., Polanska, K., Porta, D., Poulsen, G., Richiardi, L., Roeleveld, N., Skovgaard, A.M., Sram, R.J., Strandberg-Larsen, K., Thijs, C., Van Eijsden, M., Wright, J., Vrijheid, M., Andersen, A.-M.N. (2013). Corrigendum. Paediatric and Perinatal Epidemiology 27(5), 505-505. ...
Lim SS, Allen K, Bhutta ZA, Dandona L, Forouzanfar MH, Fullman N, Gething PW, Goldberg EM, Hay SI, Holmberg M, Kinfu Y, Kutz MJ, Larson HJ, Liang X, Lopez AD, Lozano R, McNellan CR, Mokdad AH, Mooney MD, Naghavi M, Olsen HE, Pigott DM, Salomon JA, Vos T, Wang H, Abajobir AA*, Abate KH*, Abbafati C*, Abbas KM*, Abd-Allah F*, Abdulle AM*, Abraham B*, Abubakar I*, Abu-Raddad LJ*, Abu-Rmeileh NME*, Abyu GY*, Achoki T*, Adebiyi AO*, Adedeji IA*, Afanvi KA*, Afshin A*, Agarwal A*, Agrawal A*, Ahmad Kiadaliri A*, Ahmadieh H*, Ahmed KY*, Akanda AS*, Akinyemi RO*, Akinyemiju TF*, Akseer N*, Al-Aly Z*, Alam K*, Alam U*, Alasfoor D*, AlBuhairan FS*, Aldhahri SF*, Aldridge RW*, Alemu ZA*, Ali R*, Alkerwi A*, Alkhateeb MAB*, Alla F*, Allebeck P*, Allen C*, Al-Raddadi R*, Altirkawi KA*, Alvarez Martin E*, Alvis-Guzman N*, Amare AT*, Amberbir A*, Amegah AK*, Amini H*, Ammar W*, Amrock SM*, Andersen HH*, Anderson BO*, Anderson GM*, Antonio CAT*, Anwari P*, Ärnlöv J*, Artaman A*, Asayesh H*, Asghar RJ*, Atique ...
Lim SS, Allen K, Bhutta ZA, Dandona L, Forouzanfar MH, Fullman N, Gething PW, Goldberg EM, Hay SI, Holmberg M, Kinfu Y, Kutz MJ, Larson HJ, Liang X, Lopez AD, Lozano R, McNellan CR, Mokdad AH, Mooney MD, Naghavi M, Olsen HE, Pigott DM, Salomon JA, Vos T, Wang H, Abajobir AA*, Abate KH*, Abbafati C*, Abbas KM*, Abd-Allah F*, Abdulle AM*, Abraham B*, Abubakar I*, Abu-Raddad LJ*, Abu-Rmeileh NME*, Abyu GY*, Achoki T*, Adebiyi AO*, Adedeji IA*, Afanvi KA*, Afshin A*, Agarwal A*, Agrawal A*, Ahmad Kiadaliri A*, Ahmadieh H*, Ahmed KY*, Akanda AS*, Akinyemi RO*, Akinyemiju TF*, Akseer N*, Al-Aly Z*, Alam K*, Alam U*, Alasfoor D*, AlBuhairan FS*, Aldhahri SF*, Aldridge RW*, Alemu ZA*, Ali R*, Alkerwi A*, Alkhateeb MAB*, Alla F*, Allebeck P*, Allen C*, Al-Raddadi R*, Altirkawi KA*, Alvarez Martin E*, Alvis-Guzman N*, Amare AT*, Amberbir A*, Amegah AK*, Amini H*, Ammar W*, Amrock SM*, Andersen HH*, Anderson BO*, Anderson GM*, Antonio CAT*, Anwari P*, Ärnlöv J*, Artaman A*, Asayesh H*, Asghar RJ*, Atique ...
C Borrell, A Plasència, M Huisman, G Costa, A Kunst, O Andersen, M Bopp, J-K Borgan, P Deboosere, M Glickman, S Gadeyne, C Minder, E Regidor, T Spadea, T Valkonen, J P Mackenbach ...
1 PublKat: A04 (Artikkel i norsk vitenskapelig tidsskrift (t.o.m. 1998)) Instit: Universitetet i Bergen, Det medisinske fakultet, Kirurgisk institutt Forf: Aas, T Medforf: Varhaug, JE Medforf: Kolnes, J Medforf: S reide, JA Medforf: L nning, PE Tittel: Prim rbehandling av lokalavansert brystkreft med bruk av neoadjuvant kjemoterapi. Tidskr: Tidsskr Nor L geforen r: 1994 Volum: 114 Side(r): 668-670 Spr k: nor PublID: r95001995 StatKat: f LokalK: KAT 8 2 PublKat: A11 (Artikkel i internasjonalt vitenskapelig tidsskrift med referee) Instit: Universitetet i Bergen, Det medisinske fakultet, Kirurgisk institutt Forf: Akslen, LA UiB-Med: Avdeling for patologi Medforf: Varhaug, JE UiB-Med: Kirurgisk institutt Medforf: Aas, T UiB-Med: Kirurgisk institutt Medforf: Andersen, KJ UiB-Med: Medisinsk avdeling A Tittel: Increase of endo- and exo-peptidases in thyroid tumors. Tidskr: Oncol Rep r: 1994 Volum: 1 Side(r): 953-956 Spr k: eng PublID: r95001997 StatKat: f LokalK: KAT 1 3 PublKat: A11 (Artikkel i ...
Dahlbäck M, Rask TS, Andersen PH, Nielsen MA, Ndam NT, Resende M, Turner L, Deloron P, Lund O, Pedersen AG, Hviid L, Theander TG, Salanti ...
I would like to learn more about Renewal by Andersen windows. Remember to contact me at the phone number I mentioned previously mentioned to schedule a convenient working day and time for an in-property value quotation. Im publishing this way so youre able to Call me and preserve me informed about your goods, providers and when they go on sale ...
A DNA origami device to control enzymatic activities G. Grossi, J. Kjems, E. S. Andersen at iNANO Autumn School 2014 on 10-12 October
Seymour, M. H., Andersen, J., buckley, A., Schumann, S., Gieseke, S., Maltoni, F., Lönnblad, L., Nurse, E., Richardson, P. J., Plehn, T., Skands, P., Hoche, S., Herquet, M., Bahr, M., Beinker, M. & Stichelbaut, F.. 1/04/17 → 31/03/21. Project: Research ...
Pregnancy and Birth and 40+ by Jan Andersen In March 1999, at the tender age of 39¾, I discovered that I was pregnant for the fourth time. My three other children from my first marriage had been conceived when I […]
According to Dr. Andersen, high performance agriculture methods are a better alternative than attempts to improve agriculture through genetic engineering.
Enron and Arthur Andersen, WorldCom, Halliburton, Harken Energy, and on and on. This laissez-faire ideal of the "free market" is a joke. Business is just like the game Monopoly. Without rules, everyone would just steal money right out of the bank and put up hotels everywhere to try and screw everyone else.. ...
Volume 122, Issue 11, November 2017, Pages: 8769-8785, Eric C. Ferré, Andrea L. Meado, John W. Geissman, Giulio Di Toro, Elena Spagnuolo, Tadamasa Ueda, Lewis D. Ashwal, Natalie Deseta, Torgeir B. Andersen, Justin Filiberto and James A. Conder. Version of Record online : 27 NOV 2017, DOI: 10.1002/2017JB014618. ...
May be responsible for potassium buffering action of glial cells in the brain. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium and cesium (By similarity). In the kidney, together with KCNJ16, mediates basolateral K(+) recycling in distal tubules; this process is critical for Na(+) reabsorption at the tubules ...
Luise Andersen artwork Feel For Charcoal Stage 4 for sale and offering more original artworks in Drawing medium and Fantasy theme. Contemporary artist website Contemporary Photographer, Artist from Fontana California United States.
May be responsible for potassium buffering action of glial cells in the brain. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium and cesium (By similarity). In the kidney, together with KCNJ16, mediates basolateral K(+) recycling in distal tubules; this process is critical for Na(+) reabsorption at the tubules. ...
We demonstrate that tamoxifen, a synthetic nonsteroidal triphenylethylene derivative, which has estrogenic, antiestrogenic effects, 4-hydroxytamoxifen, an active metabolite of tamoxifen, and raloxifene, the selective estrogen receptor modulator used to treat osteoporosis in postmenopausal women, inhibit the strong inward rectifier potassium channels Kir2.x. The order of inhibition for all three drugs was Kir2.3 , Kir2.1 ∼ Kir2.2. The inhibition of Kir2.x current by tamoxifen, 4-hydroxytamoxifen, and raloxifene occurred slowly (T1/2 ∼ 6 min), and the currents only partially recovered after washout (∼30%). Tamoxifen also inhibited IK1 in cat atrial and ventricular myocytes, and the effects were greater in the former than the latter.. The inhibition induced by tamoxifen, 4-hydroxytamoxifen, and raloxifene was concentration-dependent but voltage-independent. The potency of tamoxifen to inhibit Kir2.1 channel was greater than 4-hydroxytamoxifen and raloxifene. The IC50 of inhibition by ...
Catecholaminergic polymorphic ventricular tachycardia is characterized by polymorphic ventricular tachycardia in the structurally normal heart. It is typically triggered by physical activity, emotional stress or catecholamine infusion. Ventricular tachycardia can lead to dizziness, syncope, seizures, ventricular fibrillation and sudden death.. The Catecholaminergic polymorphic ventricular tachycardia NGS panel consists of nine genes: ANK2, CALM1, CALM2, CALM3, CASQ2, KCNJ2, RYR2, TECRL and TRDN.. Copy number variation (CNV) analysis of the catecholaminergic polymorphic ventricular tachycardia genes is also offered as a panel. Additionally, CTGT offers a comprehensive test (both NGS and CNV panels) for these genes. Panel genes are also offered as individual sequencing and deletion/duplication tests unless otherwise indicated.. ...
Definition of potassium-sensitive periodic paralysis in the Legal Dictionary - by Free online English dictionary and encyclopedia. What is potassium-sensitive periodic paralysis? Meaning of potassium-sensitive periodic paralysis as a legal term. What does potassium-sensitive periodic paralysis mean in law?
NINDS : 51 Familial periodic paralyses are a group of inherited neurological disorders caused by mutations in genes that regulate sodium and calcium channels in nerve cells. They are characterized by episodes in which the affected muscles become slack, weak, and unable to contract. Between attacks, the affected muscles usually work as normal. The two most common types of periodic paralyses are:Hypokalemic periodic paralysis is characterized by a fall in potassium levels in the blood. In individuals with this mutation attacks often begin in adolescence and are triggered by strenuous exercise, high carbohydrate meals, or by injection of insulin, glucose, or epinephrine. Weakness may be mild and limited to certain muscle groups, or more severe and affect the arms and legs. Attacks may last for a few hours or persist for several days. Some patients may develop chronic muscle weakness later in life.Hyperkalemic periodic paralysis is characterized by a rise in potassium levels in the blood. Attacks ...

Andersen-Tawil syndrome - WikipediaAndersen-Tawil syndrome - Wikipedia

Andersen-Tawil syndrome, also called Andersen syndrome and Long QT syndrome 7, is a form of long QT syndrome. It is a rare ... Furthermore it causes symptoms which are similar to Long QT syndrome, which Andersens is also known as. Long QT syndrome, a ... in addition to the symptoms of long QT syndrome. There are also physical abnormalities associated with Andersen-Tawil syndrome ... Kim, JB; Chung, KW (December 2009). "Novel de novo Mutation in the KCNJ2 Gene in a Patient With Andersen-Tawil Syndrome". ...
more infohttps://en.wikipedia.org/wiki/Andersen%E2%80%93Tawil_syndrome

Effect of Potassium and Acetazolamide on People With Andersen-Tawil Syndrome - Full Text View - ClinicalTrials.govEffect of Potassium and Acetazolamide on People With Andersen-Tawil Syndrome - Full Text View - ClinicalTrials.gov

Syndrome. Andersen Syndrome. Disease. Pathologic Processes. Long QT Syndrome. Arrhythmias, Cardiac. Heart Diseases. ... Effect of Potassium and Acetazolamide on People With Andersen-Tawil Syndrome. The safety and scientific validity of this study ... Andersen-Tawil Syndrome (ATS) is a rare genetic disorder that causes episodes of muscle weakness, potentially life-threatening ... Clinically confirmed diagnosis of Andersen-Tawil Syndrome, as defined by at least two of the following three features:. * ...
more infohttps://clinicaltrials.gov/show/NCT00839501

Membrane dysfunction in Andersen-Tawil syndrome assessed by velocity recovery cycles - Tan - 2012 - Muscle & Nerve - Wiley...Membrane dysfunction in Andersen-Tawil syndrome assessed by velocity recovery cycles - Tan - 2012 - Muscle & Nerve - Wiley...

Membrane dysfunction in Andersen-Tawil syndrome assessed by velocity recovery cycles. Authors. *. S. Veronica Tan MD, FRCP,. * ... Introduction: Andersen-Tawil syndrome (ATS) due to Kir2.1mutations typically manifests as periodic paralysis, cardiac ... Hoai-Linh Nguyen, Gerard H. Pieper, Ronald Wilders, Andersen-Tawil syndrome: Clinical and molecular aspects, International ...
more infohttp://onlinelibrary.wiley.com/doi/10.1002/mus.23293/full

Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome | Journal of Medical...Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome | Journal of Medical...

Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome ... Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome ...
more infohttp://jmg.bmj.com/content/early/2006/03/29/jmg.2006.040816

Andersen-tawil syndrome - Overview: What is Andersen-Tawil Syndrome? | ThinkGeneticAndersen-tawil syndrome - Overview: What is Andersen-Tawil Syndrome? | ThinkGenetic

What is Andersen-Tawil Syndrome?. Andersen-Tawil Syndrome is a genetic condition that causes periods of muscle weakness ( ... What is the usual abbreviation for Andersen-Tawil Syndrome?. Are there psychiatric conditions associated with Andersen-Tawil ... Speak to a genetic counselor or a medical geneticist if you have questions about Andersen-Tawil syndrome. ... How many people have 15q24 microdeletion syndrome?. *If a child is found to have Phelan-McDermid syndrome and parents genetic ...
more infohttps://www.thinkgenetic.com/diseases/andersen-tawil-syndrome-8364/overview/9843

Periodic Paralysis Syndromes | Winchester HospitalPeriodic Paralysis Syndromes | Winchester Hospital

The most common types of periodic paralysis are hypokalemic, hyperkalemic and Andersen-Tawil syndrome. Less common forms ... X-linked episodic muscle weakness syndrome, and congenital myasthenic syndromes. ... The most common types of periodic paralysis are hypokalemic, hyperkalemic and Andersen-Tawil syndrome. Less common forms ... Medications for hypokalemic, hyperkalemic, and Andersen Tawil syndrome include: *Acetazolamide-may prevent an attack by ...
more infohttp://www.winchesterhospital.org/health-library/article?id=96851

014 Prevalence study of skeletal muscle channelopathies in England | Journal of Neurology, Neurosurgery & Psychiatry014 Prevalence study of skeletal muscle channelopathies in England | Journal of Neurology, Neurosurgery & Psychiatry

... and 36 Andersen-Tawil syndrome (ATS). 530 patients were from England, giving a point prevalence of 1/100 000. Significant ...
more infohttp://jnnp.bmj.com/content/83/3/e1.176

Andersen-Tawil Syndrome - NORD (National Organization for Rare Disorders)Andersen-Tawil Syndrome - NORD (National Organization for Rare Disorders)

Andersen-Tawil syndrome is sometimes referred to as long QT syndrome 7 because some individuals in early reports of the ... In addition, unlike most forms of long QT syndrome, Andersen-Tawil syndrome is associated with symptoms in addition to ... The terms Andersen-Tawil syndrome type 1 or type 2 are also used in the medical literature. Type 1 refers to cases caused by a ... In some cases, Andersen-Tawil syndrome is caused by mutations in the KCNJ2 gene; in other cases, the associated gene is unknown ...
more infohttps://rarediseases.org/rare-diseases/andersen-tawil-syndrome/

Effect of Potassium and Acetazolamide on People With Andersen-Tawil Syndrome - Full Text View - ClinicalTrials.govEffect of Potassium and Acetazolamide on People With Andersen-Tawil Syndrome - Full Text View - ClinicalTrials.gov

Syndrome. Andersen Syndrome. Disease. Pathologic Processes. Long QT Syndrome. Arrhythmias, Cardiac. Heart Diseases. ... Effect of Potassium and Acetazolamide on People With Andersen-Tawil Syndrome. The safety and scientific validity of this study ... Andersen-Tawil Syndrome (ATS) is a rare genetic disorder that causes episodes of muscle weakness, potentially life-threatening ... Clinically confirmed diagnosis of Andersen-Tawil Syndrome, as defined by at least two of the following three features:. * ...
more infohttps://clinicaltrials.gov/ct2/show/NCT00839501

ModelDB: Simulation study of Andersen-Tawil syndrome (Sung et al 2006)ModelDB: Simulation study of Andersen-Tawil syndrome (Sung et al 2006)

Simulation study of Andersen-Tawil syndrome (Sung et al 2006). Download zip file Help downloading and running models *Model ... Patients with Andersen-Tawil syndrome (ATS) mostly have mutations on the KCNJ2 gene producing loss of function or dominant- ... Electrophysiological mechanisms of ventricular arrhythmias in relation to Andersen-Tawil syndrome under conditions of reduced ...
more infohttps://senselab.med.yale.edu/ModelDB/ShowModel.cshtml?model=79237

Andersen-Tawil syndrome: prospective cohort analysis and expansion of the phenotype. - Semantic ScholarAndersen-Tawil syndrome: prospective cohort analysis and expansion of the phenotype. - Semantic Scholar

Andersen-Tawil syndrome (ATS) is an autosomal dominant multisystem disorder characterized by developmental, cardiac, and ... Clinical features and long exercise test in Chinese patients with Andersen-Tawil syndrome.. *Jie Song, Sushan Luo, +7 authors ... Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement.. *Anna Kostera-Pruszczyk ... Andersen - Tawil Syndrome : A Retrospective Analysis of Clinical and Electrocardiographic Characteristics. *Sahil Koppikar, H. ...
more infohttps://www.semanticscholar.org/paper/Andersen-Tawil-syndrome%3A-prospective-cohort-and-of-Yoon-Oberoi/3984035a4f1b2be3656201141a12c0915bf43488

Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns...Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns...

Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns ... The ECG features of Andersen-Tawil syndrome (ATS) patients with KCNJ2 mutations (ATS1) have not been systematically assessed. ... The normal QTc, distinct ECG, and other clinical features distinguish ATS1 from long-QT syndrome, and it is best designated as ...
more infohttps://www.ncbi.nlm.nih.gov/pubmed/15911703

Martial Arts Expert Suffers From Andersen-Tawil Syndrome with Paralysis - Global GenesMartial Arts Expert Suffers From Andersen-Tawil Syndrome with Paralysis - Global Genes

Andersen-Tawil syndrome- a type of long QT syndrome.. Andersen-Tawil syndrome is a rare condition and a rare form of periodic ... Related Tags: Andersen-Tawil Syndrome, KCNJ2 Gene, Long QT Syndrome, Martial Arts, Paralysis ... There are two types of this rare syndrome. Gooch particularly suffers from type 2 Andersen-Tawil syndrome which accounts for 40 ... I also have Andersen tawil syndrome, though I am abnormal from both type one and type 2. ...
more infohttps://globalgenes.org/2013/11/23/martial-arts-expert-suffers-from-andersen-tawil-syndrome-with-paralysis/

Andersen-Tawil syndrome             | Genetic and Rare Diseases Information Center (GARD) - an NCATS ProgramAndersen-Tawil syndrome | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program

... resources and questions answered by our Genetic and Rare Diseases Information Specialists for Andersen-Tawil syndrome ... Andersen-Tawil syndrome Title Other Names:. Long QT syndrome 7; LQT7; Potassium-sensitive periodic paralysis, ventricular ... Andersen-Tawil syndrome. is a type of long QT syndrome and is also considered a rare form of periodic paralysis. It causes ... Andersen-Tawil syndrome. Genetics Home Reference. April 2006; http://ghr.nlm.nih.gov/condition/andersen-tawil-syndrome. ...
more infohttps://phgkb.cdc.gov/PHGKB/phgHome.action?action=forward&dbsource=cluster&id=28100

Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients | BMC Medical Genetics | Full...Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients | BMC Medical Genetics | Full...

... variant causes loss-of-function of the Kir2.1 channel and explains the clinical phenotypes observed in Andersen-Tawil syndrome ... Mutations in the KCNJ2 gene encoding the ion channel Kir2.1 have been linked to the Andersen-Tawil syndrome (ATS). Molecular ... Andersen syndrome autosomal dominant in three generations. Am J Med Genet. 1999;85:147-56.View ArticlePubMedGoogle Scholar. ... Mutations in the KCNJ2 gene have been associated with Andersen-Tawil syndrome (ATS), Short QT syndrome as well as with ...
more infohttps://0-bmcmedgenet-biomedcentral-com.brum.beds.ac.uk/articles/10.1186/s12881-017-0472-x

Coexistence of Andersen-Tawil Syndrome with Polymorphisms in hERG1 Gene (K897T) and SCN5A Gene (H558R) in One Family.  - PubMed...Coexistence of Andersen-Tawil Syndrome with Polymorphisms in hERG1 Gene (K897T) and SCN5A Gene (H558R) in One Family. - PubMed...

Coexistence of Andersen-Tawil Syndrome with Polymorphisms in hERG1 Gene (K897T) and SCN5A Gene (H558R) in One Family.. ... Andersen-Tawil Syndrome (ATS) is a channelopathy caused by mutations in KCNJ2 gene. It is characterized by symptoms of ...
more infohttps://phgkb.cdc.gov/PHGKB/phgHome.action?action=forward&dbsource=huge&id=110067

Pediatric Long QT Syndrome: Background, Etiology and Pathophysiology, PrognosisPediatric Long QT Syndrome: Background, Etiology and Pathophysiology, Prognosis

... familial long QT syndrome). Indeed, sudden cardiac death in the pediatric population can be the first presentation of an ... Jervell and Lang-Nielsen (JLN) syndrome is an autosomal recessive form of congenital long QT syndrome. Romano-Ward syndrome ( ... JLN syndrome. A study by Goldberg et al found that patients with JLN syndrome experienced a high rate of cardiac and fatal ... encoded search term (Pediatric Long QT Syndrome) and Pediatric Long QT Syndrome What to Read Next on Medscape. Related ...
more infohttps://emedicine.medscape.com/article/891571-overview

KCNJ12 Gene - GeneCards | KCJ12 Protein | KCJ12 AntibodyKCNJ12 Gene - GeneCards | KCJ12 Protein | KCJ12 Antibody

Diseases associated with KCNJ12 include Smith-Magenis Syndrome and Andersen Syndrome. Among its related pathways are Cardiac ... The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] ... unlikely to be involved in the Smith-Magenis syndrome *KCNJ12 ...
more infohttp://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNJ12

SMDT1 Gene - GeneCards | EMRE Protein | EMRE AntibodySMDT1 Gene - GeneCards | EMRE Protein | EMRE Antibody

andersen syndrome. *andersen cardiodysrhythmic periodic paralysis. - elite association - COSMIC cancer census association via ...
more infohttp://www.genecards.org/cgi-bin/carddisp.pl?gene=SMDT1

BioModels DatabaseBioModels Database

Andersen-Tawil syndrome. Model name. Publication. Status. Clancy2001_Kchannel (BIOMD0000000121). Cellular consequences of HERG ... Andersen-Tawil syndrome. Model name. Publication. Status. Clancy2001_Kchannel (BIOMD0000000121). Cellular consequences of HERG ... Down syndrome. Model name. Publication. Status. Kowald2006_SOD (BIOMD0000000108). Alternative pathways as mechanism for the ... Down syndrome. Model name. Publication. Status. Kowald2006_SOD (BIOMD0000000108). Alternative pathways as mechanism for the ...
more infohttps://www.ebi.ac.uk/biomodels-main/diseases

The Triads | definition of The Triads by Medical dictionaryThe Triads | definition of The Triads by Medical dictionary

Andersens triad Andersens syndrome.. Becks triad rising venous pressure, falling arterial pressure, and small quiet heart; ...
more infohttps://medical-dictionary.thefreedictionary.com/The+Triads

Barhanin J[au] - PubMed - NCBIBarhanin J[au] - PubMed - NCBI

Corticosteroid-exacerbated symptoms in an Andersens syndrome kindred.. Bendahhou S, Fournier E, Gallet S, Ménard D, Larroque ... In vivo and in vitro functional characterization of Andersens syndrome mutations.. Bendahhou S, Fournier E, Sternberg D, ... Mechanisms underlying Andersens syndrome pathology in skeletal muscle are revealed in human myotubes. ... Molecular characterization of two founder mutations causing long QT syndrome and identification of compound heterozygous ...
more infohttps://www.ncbi.nlm.nih.gov/pubmed?cmd=search&term=Barhanin+J%5Bau%5D&dispmax=50

RareshareRareshare

What is Andersen Tawil Syndrome? Andersen Tawil Syndrome is a type of Periodic Paralysis that presents with episodic weakness ... Andersen Tawil Syndrome is a type of Periodic Paralysis that presents with episodic weakness including paralysis and cardiac ... Tips or Suggestions of Andersen Tawil Syndrome has not been added yet. ... IAIYH syndrome Created by kaycee Last updated 24 Sep 2009, 02:14 PM ...
more infohttps://rareshare.org/communities/andersen-tawil-syndrome?news_link_direction=desc&news_link_sort=title

Gene Report for G00001338 - Genes2Cognition Neuroscience Research ProgrammeGene Report for G00001338 - Genes2Cognition Neuroscience Research Programme

Andersens syndrome, an autosomal dominant disorder related to mutations of the potassium channel Kir2.1, is characterized by ... Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersens syndrome.. Preisig-Müller R, ... Coexpression of Kir2.1 mutants related to Andersens syndrome with wild-type Kir2.x channels showed a dominant negative effect ... and Kir2.3 channels represents the molecular basis of the extraordinary pleiotropy of Andersens syndrome. ...
more infohttp://www.genes2cognition.org/db/Gene/G00001338

Recombinant Human Kir2.1 protein (ab114391) | AbcamRecombinant Human Kir2.1 protein (ab114391) | Abcam

Defects in KCNJ2 are the cause of long QT syndrome type 7 (LQT7) [MIM:170390]; also called Andersen syndrome or Andersen ... Defects in KCNJ2 are the cause of short QT syndrome type 3 (SQT3) [MIM:609622]. Short QT syndromes are heart disorders ... Long QT syndromes are heart disorders characterized by a prolonged QT interval on the ECG and polymorphic ventricular ...
more infohttp://www.abcam.com/recombinant-human-kir21-protein-ab114391.html
  • It affects the heart, symptoms are a disruption in the rhythm of the heart's lower chambers (ventricular arrhythmia) in addition to the symptoms of long QT syndrome. (wikipedia.org)
  • However, most patients suffering from the syndrome do not manifest all three phenotypic features mentioned. (beds.ac.uk)
  • Arterial Tortuosity Syndrome, also known as ats , is related to retinal arteries, tortuosity of and cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk , and has symptoms including joint laxity , hypertelorism and pectus excavatum . (malacards.org)
  • 66 Arterial tortuosity syndrome: An autosomal recessive disorder characterized by tortuosity and elongation of major arteries, often resulting in death at young age. (malacards.org)
  • Jervell and Lange-Nielsen syndrome is a similar disorder which is also associated with sensorineural hearing loss. (wikipedia.org)
  • 50 arterial tortuosity syndrome is a disorder that affects connective tissue (a tissue that provides strength and flexibility to structures throughout the body). (malacards.org)
  • An important gene associated with Arterial Tortuosity Syndrome is SLC2A10 (Solute Carrier Family 2 Member 10), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway . (malacards.org)
  • 25 Arterial tortuosity syndrome is a disorder that affects connective tissue. (malacards.org)
  • Common clinical symptoms include muscle atrophy, lower limb skeletal weakness, floppy infant syndrome and skeletal deformities, e.g., hip displacement and scoliosis. (fitness-vip.com)
  • Short QT syndromes are heart disorders characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. (abcam.com)