Bibliographies thématiques / KCNH6 gene

Littérature scientifique sur le sujet « KCNH6 gene »

Auteur : Grafiati
Publié le 10 mars 2023

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Articles de revues sur le sujet "KCNH6 gene"

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Lu, Jing, Han Shen, Qi Li, Feng-Ran Xiong, Ming-Xia Yuan et Jin-Kui Yang. « Effect of KCNH6 on Hepatic Endoplasmic Reticulum Stress and Glucose Metabolism ». Hormone and Metabolic Research 52, no 09 (4 août 2020) : 669–75. http://dx.doi.org/10.1055/a-1177-6814.

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AbstractAdult patients with a dysfunctional ether-a-go-go 2 (hERG2) protein, which is encoded by the KCNH6 gene, present with hyperinsulinemia and hyperglycemia. However, the mechanism of KCNH6 in glucose metabolism disorders has not been clearly defined. It has been proposed that sustained endoplasmic reticulum (ER) stress is closely concerned with hepatic insulin resistance and inflammation. Here, we demonstrate that Kcnh6 knockout (KO) mice had impaired glucose tolerance and increased levels of hepatic apoptosis, in addition to displaying an increased insulin resistance that was mediated by high ER stress levels. By contrast, overexpression of KCNH6 in primary hepatocytes led to a decrease in ER stress and apoptosis induced by thapsigargin. Similarly, induction of Kcnh6 by tail vein injection into KO mice improved glucose tolerance by reducing ER stress and apoptosis. Furthermore, we show that KCNH6 alleviated hepatic ER stress, apoptosis, and inflammation via the NFκB-IκB kinase (IKK) pathway both in vitro and in vivo. In summary, our study provides new insights into the causes of ER stress and subsequent induction of primary hepatocytes apoptosis.
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Zou, Anruo, Zhixin Lin, Margaret Humble, Christopher D. Creech, P. Kay Wagoner, Douglas Krafte, Timothy J. Jegla et Alan D. Wickenden. « Distribution and functional properties of human KCNH8 (Elk1) potassium channels ». American Journal of Physiology-Cell Physiology 285, no 6 (décembre 2003) : C1356—C1366. http://dx.doi.org/10.1152/ajpcell.00179.2003.

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The Elk subfamily of the Eag K+ channel gene family is represented in mammals by three genes that are highly conserved between humans and rodents. Here we report the distribution and functional properties of a member of the human Elk K+ channel gene family, KCNH8. Quantitative RT-PCR analysis of mRNA expression patterns showed that KCNH8, along with the other Elk family genes, KCNH3 and KCNH4, are primarily expressed in the human nervous system. KCNH8 was expressed at high levels, and the distribution showed substantial overlap with KCNH3. In Xenopus oocytes, KCNH8 gives rise to slowly activating, voltage-dependent K+ currents that open at hyperpolarized potentials (half-maximal activation at -62 mV). Coexpression of KCNH8 with dominant-negative KCNH8, KCNH3, and KCNH4 subunits led to suppression of the KCNH8 currents, suggesting that Elk channels can form heteromultimers. Similar experiments imply that KCNH8 subunits are not able to form heteromultimers with Eag, Erg, or Kv family K+ channels.
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Stecyk, Jonathan A. W., Christine S. Couturier, Denis V. Abramochkin, Diarmid Hall, Asia Arrant-Howell, Kerry L. Kubly, Shyanne Lockmann et al. « Cardiophysiological responses of the air-breathing Alaska blackfish to cold acclimation and chronic hypoxic submergence at 5°C ». Journal of Experimental Biology 223, no 22 (5 octobre 2020) : jeb225730. http://dx.doi.org/10.1242/jeb.225730.

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ABSTRACTThe Alaska blackfish (Dallia pectoralis) remains active at cold temperatures when experiencing aquatic hypoxia without air access. To discern the cardiophysiological adjustments that permit this behaviour, we quantified the effect of acclimation from 15°C to 5°C in normoxia (15N and 5N fish), as well as chronic hypoxic submergence (6–8 weeks; ∼6.3–8.4 kPa; no air access) at 5°C (5H fish), on in vivo and spontaneous heart rate (fH), electrocardiogram, ventricular action potential (AP) shape and duration (APD), the background inward rectifier (IK1) and rapid delayed rectifier (IKr) K+ currents and ventricular gene expression of proteins involved in excitation–contraction coupling. In vivo fH was ∼50% slower in 5N than in 15N fish, but 5H fish did not display hypoxic bradycardia. Atypically, cold acclimation in normoxia did not induce shortening of APD or alter resting membrane potential. Rather, QT interval and APD were ∼2.6-fold longer in 5N than in 15N fish because outward IK1 and IKr were not upregulated in 5N fish. By contrast, chronic hypoxic submergence elicited a shortening of QT interval and APD, driven by an upregulation of IKr. The altered electrophysiology of 5H fish was accompanied by increased gene expression of kcnh6 (3.5-fold; Kv11.2 of IKr), kcnj12 (7.4-fold; Kir2.2 of IK1) and kcnj14 (2.9-fold; Kir2.4 of IK1). 5H fish also exhibited a unique gene expression pattern that suggests modification of ventricular Ca2+ cycling. Overall, the findings reveal that Alaska blackfish exposed to chronic hypoxic submergence prioritize the continuation of cardiac performance to support an active lifestyle over reducing cardiac ATP demand.
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Heida, Annejet, Lisette J. M. E. van der Does, Ahmed A. Y. Ragab et Natasja M. S. de Groot. « A Rare Case of the Digenic Inheritance of Long QT Syndrome Type 2 and Type 6 ». Case Reports in Medicine 2019 (20 juin 2019) : 1–4. http://dx.doi.org/10.1155/2019/1384139.

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We report a 37-year-old woman with an out-of-hospital cardiac arrest caused by ventricular fibrillation due to digenic inheritance of long QT syndrome type 2 (KCNH2 gene) and type 6 (KCNE2 gene). During hospitalization, prolonged QTc intervals and frequent episodes of ventricular tachyarrhythmias manifested. Genetic testing identified a mutation of the KCNH2 gene and an unclassified variant, most likely pathogenic, of the KCNE2 gene. This digenic inheritance is extremely rare.
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Ichise, Eisuke, Tomohiro Chiyonobu, Mitsuru Ishikawa, Yasuyoshi Tanaka, Mami Shibata, Takenori Tozawa, Yoshihiro Taura et al. « Impaired neuronal activity and differential gene expression in STXBP1 encephalopathy patient iPSC-derived GABAergic neurons ». Human Molecular Genetics 30, no 14 (7 mai 2021) : 1337–48. http://dx.doi.org/10.1093/hmg/ddab113.

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Abstract Syntaxin-binding protein 1 (STXBP1; also called MUNC18–1), encoded by STXBP1, is an essential component of the molecular machinery that controls synaptic vesicle docking and fusion. De novo pathogenic variants of STXBP1 cause a complex set of neurological disturbances, namely STXBP1 encephalopathy (STXBP1-E) that includes epilepsy, neurodevelopmental disorders and neurodegeneration. Several animal studies have suggested the contribution of GABAergic dysfunction in STXBP1-E pathogenesis. However, the pathophysiological changes in GABAergic neurons of these patients are still poorly understood. Here, we exclusively generated GABAergic neurons from STXBP1-E patient-derived induced pluripotent stem cells (iPSCs) by transient expression of the transcription factors ASCL1 and DLX2. We also generated CRISPR/Cas9-edited isogenic iPSC-derived GABAergic (iPSC GABA) neurons as controls. We demonstrated that the reduction in STXBP1 protein levels in patient-derived iPSC GABA neurons was slight (approximately 20%) compared to the control neurons, despite a 50% reduction in STXBP1 mRNA levels. Using a microelectrode array–based assay, we found that patient-derived iPSC GABA neurons exhibited dysfunctional maturation with reduced numbers of spontaneous spikes and bursts. These findings reinforce the idea that GABAergic dysfunction is a crucial contributor to STXBP1-E pathogenesis. Moreover, gene expression analysis revealed specific dysregulation of genes previously implicated in epilepsy, neurodevelopment and neurodegeneration in patient-derived iPSC GABA neurons, namely KCNH1, KCNH5, CNN3, RASGRF1, SEMA3A, SIAH3 and INPP5F. Thus, our study provides new insights for understanding the biological processes underlying the widespread neuropathological features of STXBP1-E.
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Caballero, Ricardo, Raquel G. Utrilla, Irene Amorós, Marcos Matamoros, Marta Pérez-Hernández, David Tinaquero, Silvia Alfayate et al. « Tbx20 controls the expression of the KCNH2 gene and of hERG channels ». Proceedings of the National Academy of Sciences 114, no 3 (3 janvier 2017) : E416—E425. http://dx.doi.org/10.1073/pnas.1612383114.

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Long QT syndrome (LQTS) exhibits great phenotype variability among family members carrying the same mutation, which can be partially attributed to genetic factors. We functionally analyzed the KCNH2 (encoding for Kv11.1 or hERG channels) and TBX20 (encoding for the transcription factor Tbx20) variants found by next-generation sequencing in two siblings with LQTS in a Spanish family of African ancestry. Affected relatives harbor a heterozygous mutation in KCNH2 that encodes for p.T152HfsX180 Kv11.1 (hERG). This peptide, by itself, failed to generate any current when transfected into Chinese hamster ovary (CHO) cells but, surprisingly, exerted “chaperone-like” effects over native hERG channels in both CHO cells and mouse atrial-derived HL-1 cells. Therefore, heterozygous transfection of native (WT) and p.T152HfsX180 hERG channels generated a current that was indistinguishable from that generated by WT channels alone. Some affected relatives also harbor the p.R311C mutation in Tbx20. In human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs), Tbx20 enhanced human KCNH2 gene expression and hERG currents (IhERG) and shortened action-potential duration (APD). However, Tbx20 did not modify the expression or activity of any other channel involved in ventricular repolarization. Conversely, p.R311C Tbx20 did not increase KCNH2 expression in hiPSC-CMs, which led to decreased IhERG and increased APD. Our results suggest that Tbx20 controls the expression of hERG channels responsible for the rapid component of the delayed rectifier current. On the contrary, p.R311C Tbx20 specifically disables the Tbx20 protranscriptional activity over KCNH2. Therefore, TBX20 can be considered a KCNH2-modifying gene.
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Farrelly, A. M., S. Ro, B. P. Callaghan, M. A. Khoyi, N. Fleming, B. Horowitz, K. M. Sanders et K. D. Keef. « Expression and function of KCNH2 (HERG) in the human jejunum ». American Journal of Physiology-Gastrointestinal and Liver Physiology 284, no 6 (1 juin 2003) : G883—G895. http://dx.doi.org/10.1152/ajpgi.00394.2002.

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Previous studies suggest that ether-a-go-go related gene (ERG) KCNH2 potassium channels contribute to the control of motility patterns in the gastrointestinal tract of animal models. The present study examines whether these results can be translated into a role in human gastrointestinal muscles. Messages for two different variants of the KCNH2 gene were detected: KCNH2 V1 human ERG (HERG) (28) and KCNH2 V2 (HERGUSO) (13). The amount of V2 message was greater than V1 in both human jejunum and brain. The base-pair sequence that gives rise to domains S3– S5 of the channel was identical to that previously published for human KCNH2 V1 and V2. KCNH2 protein was detected immunohistochemically in circular and longitudinal smooth muscle and enteric neurons but not in interstitial cells of Cajal. In the presence of TTX (10−6 M), atropine (10−6M). and l-nitroarginine (10−4 M) human jejunal circular muscle strips contracted phasically (9 cycles/min) and generated slow waves with superimposed spikes. Low concentrations of the KCNH2 blockers E-4031 (10−8 M) and MK-499 (3 × 10−8 M) increased phasic contractile amplitude and the number of spikes per slow wave. The highest concentration of E-4031 (10−6 M) produced a 10–20 mV depolarization, eliminated slow waves, and replaced phasic contractions with a small tonic contracture. E-4031 (10−6 M) did not affect [14C]ACh release from enteric neurons. We conclude that KCNH2 channels play a fundamental role in the control of motility patterns in human jejunum through their ability to modulate the electrical behavior of smooth muscle cells.
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Stengel, Rayk, Eric Rivera-Milla, Nirakar Sahoo, Christina Ebert, Frank Bollig, Stefan H. Heinemann, Roland Schönherr et Christoph Englert. « Kcnh1 Voltage-gated Potassium Channels Are Essential for Early Zebrafish Development ». Journal of Biological Chemistry 287, no 42 (27 août 2012) : 35565–75. http://dx.doi.org/10.1074/jbc.m112.363978.

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The Kcnh1 gene encodes a voltage-gated potassium channel highly expressed in neurons and involved in tumor cell proliferation, yet its physiological roles remain unclear. We have used the zebrafish as a model to analyze Kcnh1 function in vitro and in vivo. We found that the kcnh1 gene is duplicated in teleost fish (i.e. kcnh1a and kcnh1b) and that both genes are maternally expressed during early development. In adult zebrafish, kcnh1a and kcnh1b have distinct expression patterns but share expression in brain and testis. Heterologous expression of both genes in Xenopus oocytes revealed a strong conservation of characteristic functional properties between human and fish channels, including a unique sensitivity to intracellular Ca2+/calmodulin and modulation of voltage-dependent gating by extracellular Mg2+. Using a morpholino antisense approach, we demonstrate a strong kcnh1 loss-of-function phenotype in developing zebrafish, characterized by growth retardation, delayed hindbrain formation, and embryonic lethality. This late phenotype was preceded by transcriptional up-regulation of known cell-cycle inhibitors (p21, p27, cdh2) and down-regulation of pro-proliferative factors, including cyclin D1, at 70% epiboly. These results reveal an unanticipated basic activity of kcnh1 that is crucial for early embryonic development and patterning.
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Сивцев, А. А., Л. И. Свинцова, И. В. Плотникова, И. Ж. Жалсанова, А. Е. Постригань, Л. И. Минайчева, О. Ю. Джаффарова et Н. А. Скрябин. « Analysis of mutations spectrum in the KCNQ1, KCNH2 and SCN5A genes in patients with long QT syndrome using massively parallel sequencing ». Nauchno-prakticheskii zhurnal «Medicinskaia genetika», no 5(214) (29 mai 2020) : 20–22. http://dx.doi.org/10.25557/2073-7998.2020.05.20-22.

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Проведен поиск мутаций в генах KCNQ1, KCNH2 и SCN5A методом массового параллельного секвенирования (МПС) у 10 пациентов из 8 семей с диагнозом «синдром удлиненного интервала QT» (СУИQT). Для пробоподготовки использована методика целевого обогащения участков ДНК, относящихся к исследуемым генам. В результате проведенной работы выявлено 8 мутаций: 5 из них расположены в гене KCNQ1, 2 мутации - в гене KCNH2, 1 мутация - в гене SCN5A. Во всех случаях были найдены уникальные мутации, не повторяющиеся у неродственных пациентов. Результаты проведенной работы указывают на эффективность использования таргетных панелей для поиска генетических аномалий при СУИQT. We searched for mutations in the KCNQ1, KCNH2 and SCN5A genes using mass parallel sequencing (MPS) in 10 patients from 8 families with a diagnosis of “long QT syndrome” (LQTS). For sample preparation, we used the targeted enrichment of DNA regions method related to the studied genes. As a result of the work, 8 mutations were revealed: 5 of them are located in the KCNQ1 gene, 2 mutations in the KCNH2 gene, 1 mutation in the SCN5A gene. In all cases, we found unique mutations that did not recur in unrelated patients. The results of this work indicate the effectiveness of using targeted panels to search for genetic abnormalities in LQTS.
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O’Hare, Bailey J., C. S. John Kim, Samantha K. Hamrick, Dan Ye, David J. Tester et Michael J. Ackerman. « Promise and Potential Peril With Lumacaftor for the Trafficking Defective Type 2 Long-QT Syndrome-Causative Variants, p.G604S, p.N633S, and p.R685P, Using Patient-Specific Re-Engineered Cardiomyocytes ». Circulation : Genomic and Precision Medicine 13, no 5 (octobre 2020) : 466–75. http://dx.doi.org/10.1161/circgen.120.002950.

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Background: The KCNH2 -encoded Kv11.1 hERG (human ether-a-go-go related gene) potassium channel is a critical regulator of cardiomyocyte action potential duration (APD). The majority of type 2 long-QT syndrome (LQT2) stems from trafficking defective KCNH2 mutations. Recently, Food and Drug Administration-approved cystic fibrosis protein trafficking chaperone, lumacaftor, has been proposed as novel therapy for LQT2. Here, we test the efficacy of lumacaftor treatment in patient-specific induced pluripotent stem cell-cardiomyocytes (iPSC-CMs) derived from 2 patients with known LQT2 trafficking defective mutations and a patient with novel KCNH2 variant, p.R685P. Methods: Patient-specific iPSC-CM models of KCNH2-G604S, KCNH2-N633S, and KCNH2-R685P were generated from 3 unrelated patients diagnosed with severe LQT2 (rate-corrected QT>500 ms). Lumacaftor efficacy was also tested by ANEPPS, FluoVolt, and ArcLight voltage dye-based APD90 measurements. Results: All 3 mutations were hERG trafficking defective in iPSC-CMs. While lumacaftor treatment failed to rescue the hERG trafficking defect in TSA201 cells, lumacaftor rescued channel trafficking for all mutations in the iPSC-CM model. All 3 mutations conferred a prolonged APD90 compared with control. While lumacaftor treatment rescued the phenotype of KCNH2-N633S and KCNH2-R685P, lumacaftor paradoxically prolonged the APD90 in KCNH2-G604S iPSC-CMs. Lumacaftor-mediated APD90 rescue was affected by rapidly activating delayed rectifier K+ current blocker consistent with the increase of rapidly activating delayed rectifier K+ current by lumacaftor is the underlying mechanism of the LQT2 rescue. Conclusions: While lumacaftor is an effective hERG channel trafficking chaperone and may be therapeutic for LQT2, we urge caution. Without understanding the functionality of the mutant channel to be rescued, lumacaftor therapy could be harmful.
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Thèses sur le sujet "KCNH6 gene"

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Liu, Zhao. « USING GENE THERAPY TO PREVENT ATRIAL FIBRILLATION ». Case Western Reserve University School of Graduate Studies / OhioLINK, 2017. http://rave.ohiolink.edu/etdc/view?acc_num=case1481231548493874.

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Ozberk, Deniz. « The relationship between single nucleotide polymorphisms in ARRB2, KCNJ6 and BDNF genes and methadone response for pain management in palliative care ». Thesis, Griffith University, 2019. http://hdl.handle.net/10072/390006.

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Background: Pain has a negative impact on cancer patients’ quality of life. It is highly prevalent within this vulnerable population, with an estimated 70 to 90% of patients with advanced cancer experiencing pain. It is the most feared symptom of advanced cancer. Opioids are recommended for moderate to severe pain in palliative care. Methadone has advantages over other opioids, but it is associated with significant interindividual variability and complex pharmacokinetic and pharmacodynamic parameters, which makes dosing challenging in practice. There is limited pharmacogenetic research on cancer pain. However, recent research on single nucleotide polymorphisms (SNPs) and pharmacodynamics has shown that SNPs contribute to interindividual variability in response to opioids. The aim of this study was to investigate the relationship between SNPs in the three genes, namely KCNJ6, BDNF and ARRB2 and their influence on interindividual variability in methadone dosing requirements for pain management in advanced cancer. Methods: Fifty-five participants were recruited from the palliative and supportive care services at Mater Adults Hospital and St Vincent’s Private Hospital, Brisbane, in a prospective multi-centre, open labelled, dose individualisation study. Patients were prescribed varying doses of oral methadone by specialist palliative care clinicians for the management of pain. Patient characteristics were collected at baseline, with pain scores recorded using the Brief Pain Inventory, on a numerical rating scale of 0 to 10. Genotyping was conducted using pyrosequencing for both BDNF and KCNJ6 and TaqMan assays were used for ARRB2. Results: Forty-six participants were included in the final study and received an average methadone dose of 17.7 mg. The mean pain score was 4.2 out of 10. The mean age of the population was 60.7 years. The patient characteristics measured in this study were not found to be covariates affecting methadone dose, response or pain scores. A patient was considered to be experiencing high pain if they had a pain score of > 4/10. There was a significant association between high pain scores and the following SNPs in BDNF and ARRB2: rs1491850 (p = 0.033), rs3786047 (p = 0.011), rs1045280 (p = 0.004) and rs2036657 (p = 0.05). SNPs in KCNJ6, BDNF and ARRB2 did not show significant associations with methadone dose. Conclusion: These findings suggest that specific SNPs in BDNF and ARRB2 may play a role in methadone response and that genetics may be an important factor in interindividual variability. In the future, the SNPs in these genes could be factored into a multimodal treatment algorithm for cancer pain.
Thesis (Masters)
Master of Medical Research (MMedRes)
School of Medical Science
Griffith Health
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Jenewein, Tina [Verfasser], Gerhard [Akademischer Betreuer] Thiel, Ralf [Akademischer Betreuer] Galuske et Silke [Akademischer Betreuer] Kauferstein. « Characterization of sequence variants in the cardiac ion channel genes KCNH2 and SCN5A / Tina Jenewein ; Gerhard Thiel, Ralf Galuske, Silke Kauferstein ». Darmstadt : Universitäts- und Landesbibliothek Darmstadt, 2017. http://d-nb.info/1139844121/34.

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FORTUNATO, ANGELO. « Identification and characterization of genes involved in the development and progression of colorectal and endometrial cancers ». Doctoral thesis, 2012. http://hdl.handle.net/2158/794612.

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Jenewein, Tina. « Characterization of sequence variants in the cardiac ion channel genes KCNH2 and SCN5A ». Phd thesis, 2017. http://tuprints.ulb.tu-darmstadt.de/6793/1/Diss_TinaJenewein_final_2.pdf.

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The present thesis describes the identification and characterization of sequence variants in the cardiac ion channel genes KCNH2 and SCN5A. The variants were found in sudden cardiac death victims, in patients with ion channel diseases and in their family members. The results support the growing awareness that carriership of a single mutation often fails to predict the clinical phenotype and that additional genetic modifications may influence the clinical manifestation of the disease.
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Chapitres de livres sur le sujet "KCNH6 gene"

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Martínez-Barrios, Estefanía, José Cruzalegui, Sergi Cesar, Fredy Chipa, Elena Arbelo, Victoria Fiol, Josep Brugada, Georgia Sarquella-Brugada et Oscar Campuzano. « Short QT Syndrome : Update on Genetic Basis ». Dans Rare Diseases - Recent Advances [Working Title]. IntechOpen, 2022. http://dx.doi.org/10.5772/intechopen.106808.

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Short QT syndrome (SQTS) is an extremely rare inherited arrhythmogenic entity. Nowadays, less than 200 families affected worldwide have been reported. This syndrome is characterized by the presence of a short QT interval leading to malignant ventricular tachyarrhythmias, syncope and sudden cardiac death. It is one of the most lethal heart diseases in children and young adults. Both incomplete penetrance and variable expressivity are hallmarks of this entity, making it difficult to diagnose and manage. Currently, rare variants in nine genes have been associated with SQTS (CACNA1C, CACNA2D1, CACNB2, KCNH2, KCNJ2, KCNQ1, SLC22A5, SLC4A3 and SCN5A). However, only pathogenic variants in four genes (KCNH2, KCNQ1, KCNJ2 and SLC4A3) have been found to definitively cause SQTS. The remaining genes lack a clear association with the disease, making clinical interpretation of the variants challenging. The diagnostic yield of genetic tests is currently less than 30%, leaving most families clinically diagnosed with SQTS without a conclusive genetic diagnosis. We reviewed and updated the main genetic features of SQTS, as well as recent evidence on increasingly targeted treatment.
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Mazzanti, Andrea, Riccardo Maragna et Silvia G. Priori. « Monogenic and oligogenic cardiovascular diseases : genetics of arrhythmias—long QT syndrome ». Dans ESC CardioMed, 671–76. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0149.

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Long QT syndrome (LQTS) is a collective term used for a group of inherited arrhythmogenic disorders characterized by a prolonged cardiac action potential duration that predisposes affected individuals to the development of life-threatening arrhythmias, especially during phases of adrenergic activation (exercise, emotions). From the genetic standpoint, LQTS is mainly transmitted as an autosomal dominant trait, caused by point mutations in genes coding for protein channels that regulate the duration of cardiac action potentials. To date, 17 genes have been associated with LQTS, but the first three genotypes discovered (LQT1, LQT2, and LQT3) account for the majority of genotype-positive cases. LQT1 and LQT2 (75% of LQTS cases) are caused by loss-of-function mutations in genes (KCNQ1 and KCNH2) coding for potassium channels (IKs and IKr) involved in the repolarization phase of cardiomyocytes, while LQT3 is caused by gain-of-function mutations affecting the gene SCN5A coding for the Nav1.5 sodium channel, which is the major determinant of depolarization of cardiomyocytes. Genetic testing has a great potential for the management of patients with LQTS and may contribute to better define the diagnosis, the risk stratification, and the choice of therapy.
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