Academic literature on the topic 'KCNH2 gene'
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Journal articles on the topic "KCNH2 gene"
Heida, Annejet, Lisette J. M. E. van der Does, Ahmed A. Y. Ragab, and 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 (June 20, 2019): 1–4. http://dx.doi.org/10.1155/2019/1384139.
Full textLarsen, Lars Allan, Paal Skytt Andersen, Jørgen Kanters, Ida Hastrup Svendsen, Joes Ramsøe Jacobsen, Jens Vuust, Göran Wettrell, Lisbeth Tranebjærg, Jørn Bathen, and Michael Christiansen. "Screening for Mutations and Polymorphisms in the Genes KCNH2 and KCNE2 Encoding the Cardiac HERG/MiRP1 Ion Channel: Implications for Acquired and Congenital Long Q-T Syndrome." Clinical Chemistry 47, no. 8 (August 1, 2001): 1390–95. http://dx.doi.org/10.1093/clinchem/47.8.1390.
Full textМаксимов, В. Н., Д. Е. Иванощук, П. С. Орлов, А. А. Иванова, С. К. Малютина, С. В. Максимова, И. А. Родина, О. В. Хамович, and В. П. Новосёлов. "The first results of gene panel sequencing in sudden cardiac death in young men." Nauchno-prakticheskii zhurnal «Medicinskaia genetika», no. 5(214) (May 29, 2020): 36–38. http://dx.doi.org/10.25557/2073-7998.2020.05.36-38.
Full textOrlov, P. S., D. E. Ivanoshchuk, A. M. Nesterets, A. A. Kuznetsov, A. A. Ivanova, S. K. Maliutina, D. V. Denisova, E. V. Striukova, V. N. Maksimov, and S. V. Maksimova. "The results of next-generation sequencing in men with borderline QT interval prolongation (pilot study)." Complex Issues of Cardiovascular Diseases 11, no. 2 (April 28, 2022): 98–106. http://dx.doi.org/10.17802/2306-1278-2022-11-2-98-106.
Full textZou, Anruo, Zhixin Lin, Margaret Humble, Christopher D. Creech, P. Kay Wagoner, Douglas Krafte, Timothy J. Jegla, and Alan D. Wickenden. "Distribution and functional properties of human KCNH8 (Elk1) potassium channels." American Journal of Physiology-Cell Physiology 285, no. 6 (December 2003): C1356—C1366. http://dx.doi.org/10.1152/ajpcell.00179.2003.
Full textCaballero, 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 (January 3, 2017): E416—E425. http://dx.doi.org/10.1073/pnas.1612383114.
Full textFarrelly, A. M., S. Ro, B. P. Callaghan, M. A. Khoyi, N. Fleming, B. Horowitz, K. M. Sanders, and K. D. Keef. "Expression and function of KCNH2 (HERG) in the human jejunum." American Journal of Physiology-Gastrointestinal and Liver Physiology 284, no. 6 (June 1, 2003): G883—G895. http://dx.doi.org/10.1152/ajpgi.00394.2002.
Full textСивцев, А. А., Л. И. Свинцова, И. В. Плотникова, И. Ж. Жалсанова, А. Е. Постригань, Л. И. Минайчева, О. Ю. Джаффарова, and 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) (May 29, 2020): 20–22. http://dx.doi.org/10.25557/2073-7998.2020.05.20-22.
Full textO’Hare, Bailey J., C. S. John Kim, Samantha K. Hamrick, Dan Ye, David J. Tester, and 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 (October 2020): 466–75. http://dx.doi.org/10.1161/circgen.120.002950.
Full textPolyak, Margarita E., Anna Shestak, Dmitriy Podolyak, and Elena Zaklyazminskaya. "Compound heterozygous mutations in KCNJ2 and KCNH2 in a patient with severe Andersen-Tawil syndrome." BMJ Case Reports 13, no. 8 (August 2020): e235703. http://dx.doi.org/10.1136/bcr-2020-235703.
Full textDissertations / Theses on the topic "KCNH2 gene"
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.
Full textJenewein, Tina [Verfasser], Gerhard [Akademischer Betreuer] Thiel, Ralf [Akademischer Betreuer] Galuske, and 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.
Full textDomenech, Gimeno Anna. "Identificació de nous gens a la regió cromosòmica 21q22. Caracterització molecular de KCNE2 i KCNE3." Doctoral thesis, Universitat de Barcelona, 2001. http://hdl.handle.net/10803/851.
Full textL'objectiu final d'aquesta tesi és la identificació i caracterització de nous gens del HSA21.
Els resultats obtinguts es poden resumir en :
· S'ha participat en la construcció d'un contig de cosmidis de tres regions del HSA21, cobrint al voltant de 3 Mb.
· S' ha participat en la construcció d'un mapa transcripcional de les tres regions. Es va realitzar una selecció de cDNAs, aïllant en total 45 cDNAs parcials no redundants, dels quals 25 no mostraven similitud amb cap seqüència de les bases de dades. Tots s'expressaven en una barreja de RNA poliA+ de cervell, pulmó, fetge i ronyó fetals. Els intents d'aïllar els cDNAs complerts corresponents a cada un dels clons varen resultar negatius.
· S' ha aïllat un nou gen del HSA21, KCNE2, identificat inicialmente mitjançant una anàlisi computacional de la seqüència genòmica AP000052. El cDNA complert té 850 pb. KCNE2 codifica per a una proteïna de 123 aa amb elevada homologia a KCNE1, una subunitat ß de canals de potassi depenents de voltage. L'estructura genòmica té un únic exó codificant i mapa a 21q22.1. KCNE2 s'expressa com un RNA de 1.2 kb, majoritàriament a estómac. La seqüència de la proteína KCNE2 conté 2 llocs consens de N-glicosilació, es prediu una regió transmembrana i un lloc consens de fosforilació per PKC. En experiments de western amb extractes de cèl·lules de mamífer transfectades, la proteïna es detecta com a tres bandes entre 16 kDa i 20 kDa, essent la més petita la del pes molecular esperat. Experiments amb tunicamicina han demostrat que KCNE2 es glicosila en asparagines, in vivo. Es van generar dos mutants en els llocs consens de glicosilació, N6Q i N29Q, que han demostrat que ambdós llocs són susceptibles de ser glicosilats. Experiments d'immunofluorescència indirecta suggereixen que KCNE2 s'inserta en la membrana amb el seu extrem N-terminal cap al medi extracel·lular i que amb un únic residu glicosilat n'hi ha prou per integrar-s'hi. Experiments de RT-PCR semiquantitativa indiquen que no hi ha sobre-expressió en SD ni de KCNE1 ni de KCNE2, a cors fetals SD. Es van buscar mutacions a KCNE2 en pacients de sordesa no sindròmica i es va trobar un canvi de nucleòtid A22G, que dóna lloc a un canvi d'aminoàcid T8A. Aquest canvi afectaria el punt de glicosilació.
· Es va identificar un nou gen, por homologia a KCNE1 i KCNE2, al qual se li va donar el nom de KCNE3. El cDNA complert té 1646 pb i conté una pauta de lectura oberta de 103 aa. L'estructura genòmica és similar a la de KCNE1 i KCNE2, amb un únic exó codificant, per tant podria tractar-se d'una família de gens paràlegs. KCNE3 es va mapar a la regió 11q13-14, utilitzant el pannell d'híbrids de radiació G3 d'Stanford. KCNE3 s'expresa com a un mRNA de 3 Kb a colon, intestí prim, ovari i a sang perifèrica. La seqüència de aminoácidos conté 3 llocs consens de N-glicosilació, es prediu una regió transmembrana i un lloc consens de fosforilació per PKC. S' ha demostrat que KCNE3 es N-glicosila en cèl·lules de mamífer i que s'inserta a la membrana amb l'extrem N-terminal dirigit cap al medi extracel·lular. S'ha trobat un polimorfisme T198C, que provoca el canvi d'aminoàcid F66L, amb una freqüència del 15% en la población general.
MOSCA, Ilaria. "Identificazione di un nuovo meccanismo molecolare e correlazioni genotipo-fenotipo nelle encefalopatie dello sviluppo associate a varianti nei geni KCNQ2 e KCNQ3." Doctoral thesis, Università degli studi del Molise, 2019. http://hdl.handle.net/11695/86357.
Full textEpileptic Encephalopathy (EE) is a severe form of epilepsy in which epileptiform activity contributes to a progressive cerebral dysfunction. Recently, mutations in the kcnq2 or kcnq3 genes have been identified in patients affected by EE. These genes encode for neuronal Kv7.2 or Kv7.3 subunits characterized by the presence of six transmembrane segments and a long C-terminus domain to which several modulatory proteins are associated, such as the phosphatidylinositol-4-5-bis-phosphate (PIP2), that is a know Kv7 activator, and the calmodulin (CaM). The heteromeric channels underlie the neuronal M current, a potassium current which inhibits neuronal excitability. The aim of this work is to study the functional consequences and the pharmacological sensitivity of Kv7.2 or Kv7.3 channels incorporating the following mutations: • Kv7.2 R325G identified in three patients affected by EE; • two mutations in the kcnq3 gene in compound heterozygosis identified in a patient affected by EE (Kv7.3 V359L/Kv7.3 D542N) and the Kv7.2 D535N corresponding to the Kv7.3 D542N variant and described in three cases with EE; • Kv7.2 G310S identified in a patient with EE. To study this mutation channel subunits were expressed in CHO cells by transient transfection. One day after transfection, we recorded the currents by whole cell patch-clamp. Patch-clamp recordings revealed that homomeric mutant channel are not functional when compared to homomeric Kv7.2 or Kv7.3 wild-type (wt) channels. To reproduce the genetic balance of EE-affected patients, mutant subunits were co-expressed with Kv7.2 or Kv7.3 wt subunits. The results obtained suggest that heteromeric mutant channels carried currents size smaller than those from heteromeric wt channels. Based on these results, we therefore tested the activator drug, called retigabine, that was able to restore, at wt levels, the currents carried by heteromeric mutant channels. To better understand the pathogenic mechanism induced by the mutations, we used a structural model in which was possible to reproduce a portion of Kv7.2 or Kv7.3 channels. The residues of our interest are involved in the binding-site of PIP2 and are near to the binding-site of CaM. To this aim, we used two experimental tools: a PIP2-synthesizing enzyme, called PIP5K, that increses PIP2 levels, or a phosphatase, like DrVSP, which reduces PIP2 levels. PIP5K co-expression with Kv7.2 homomeric mutant channels significantly increased current size. On the other end, this effect was not observed for Kv7.3 mutant channels. DrVSP experiments showed that heteromeric mutant currents is more easily inhibeted by DrVSP e more slowly recovered, when compared to heteromeric wt channels. These results suggest that the studied mutations interfere with the PIP2-dependent regulation. Furthermore, a significant current size increase was observed by the co-expression of CaM1234 (a mutated calmodulin that does not bind calcium) with Kv7.2 D535N and Kv7.2 G310S mutant channels, suggesting that these channels also interfere with CaM regulation. In conclusions, the mutations herein investigated causes a loss of function by interfering with the PIP2 regulation and, in some cases, also with the CaM regulation. Moreover, these results provide a rationale for the use of Kv7 channels activators, like retigabine or retigabine derivates, for the pharmacological treatment of patients affected by EE carrying Kv7 loss-of-function mutations.
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.
Full textJenewein, 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.
Full textBook chapters on the topic "KCNH2 gene"
Zahid, Sarwar, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively, and Thiran Jayasundera. "KCNV2." In Retinal Dystrophy Gene Atlas, 125–27. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-10867-4_41.
Full textAdeniran, Ismail. "Proarrhythmia in KCNJ2-Linked Short QT Syndrome: Insights from Modelling." In Modelling the Short QT Syndrome Gene Mutations, 153–72. Cham: Springer International Publishing, 2014. http://dx.doi.org/10.1007/978-3-319-07200-5_8.
Full textMartínez-Barrios, Estefanía, José Cruzalegui, Sergi Cesar, Fredy Chipa, Elena Arbelo, Victoria Fiol, Josep Brugada, Georgia Sarquella-Brugada, and Oscar Campuzano. "Short QT Syndrome: Update on Genetic Basis." In Rare Diseases - Recent Advances [Working Title]. IntechOpen, 2022. http://dx.doi.org/10.5772/intechopen.106808.
Full textMazzanti, Andrea, Riccardo Maragna, and Silvia G. Priori. "Monogenic and oligogenic cardiovascular diseases: genetics of arrhythmias—long QT syndrome." In ESC CardioMed, 671–76. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0149.
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