Zobrazeno 1 - 10
of 736
pro vyhledávání: '"kcnh2"'
Autor:
Francesco Ventura, Rosario Barranco, Francesca Buffelli, Ezio Fulcheri, Domenico Coviello, Antonella Palmieri
Publikováno v:
Annals of Pediatric Cardiology, Vol 17, Iss 4, Pp 292-294 (2024)
Uhl’s disease is a rare disorder secondary to the uncontrolled destruction of right ventricular myocytes during the perinatal period. We present here the case of a 1-month-old child who died suddenly of Uhl’s disease, which was only diagnosed at
Externí odkaz:
https://doaj.org/article/4fb9031fcc80487ba1e3200ef2db6df3
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-6 (2024)
Abstract Background Long QT syndrome (LQTS) is a cardiac channelopathy characterized by impaired myocardial repolarization that predisposes to life-threatening arrhythmias. This study aimed to elucidate the genetic basis of LQTS in an affected Irania
Externí odkaz:
https://doaj.org/article/4dd9f0aba2894789862d57753028ee8d
Autor:
Rafael Tamayo-Trujillo, Rita Ibarra-Castillo, José Luis Laso-Bayas, Patricia Guevara-Ramirez, Santiago Cadena-Ullauri, Elius Paz-Cruz, Viviana A. Ruiz-Pozo, Nieves Doménech, Adriana Alexandra Ibarra-Rodríguez, Ana Karina Zambrano
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
IntroductionLong QT syndrome (LQTS) is an autosomal dominant inherited cardiac condition characterized by a QT interval prolongation and risk of sudden death. There are 17 subtypes of this syndrome associated with genetic variants in 11 genes. The se
Externí odkaz:
https://doaj.org/article/116eda59f6564a36b99bc01589a51bdd
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
BackgroundLong QT syndrome (LQTS) is an inherited malignant arrhythmia syndrome that poses a risk of sudden death. Variants in the Potassium Voltage-Gated Channel Subfamily H Member 2 (KCNH2) gene are known to cause Long QT syndrome through an autoso
Externí odkaz:
https://doaj.org/article/d3d25666351943b68ec4045bb0f0afaf
Publikováno v:
Diagnostics, Vol 14, Iss 17, p 1995 (2024)
Sudden, unexpected deaths are extremely difficult for families, especially when the victim is a child. Most sudden deaths occur due to cardiovascular issues, and a smaller number (approximately one-quarter) are attributed to other causes, such as epi
Externí odkaz:
https://doaj.org/article/1af83b51af894b61a253084b6ff6a087
Autor:
Reema W. Aljassar, Qianyi Shen, Buthaina Albash, Jamie I. Vandenberg, Mohammad A. Ebrahim, Chai-Ann Ng
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101868- (2024)
Functional investigation of genetic variants found in long QT syndrome can provide evidence that is needed to confirm the genetic diagnosis and establish the cause of the condition. We performed functional assessment to determine the z-score, using a
Externí odkaz:
https://doaj.org/article/74bbb0ef9290474da5cd68717fed3959
Autor:
Amir Farjam Fazelifar, Maryam Pourirahim, Tannaz Masoumi, Alireza Biglari, Majid Maleki, Samira Kalayinia
Publikováno v:
Journal of Arrhythmia, Vol 39, Iss 3, Pp 430-453 (2023)
Abstract Background Long QT syndrome (LQTS) is a lethal cardiac condition. However, the clinical implementation of genetic testing has now made LQTS eminently treatable. Next‐generation sequencing has remarkable potential for both clinical diagnost
Externí odkaz:
https://doaj.org/article/967c83de6a274824939c2f14db09ac3c
Publikováno v:
Frontiers in Physiology, Vol 14 (2023)
Advances in next-generation sequencing have been exceptionally valuable for identifying variants in medically actionable genes. However, for most missense variants there is insufficient evidence to permit definitive classification of variants as beni
Externí odkaz:
https://doaj.org/article/a32dd2fd1ad84ff1a94824be606a5afb
Publikováno v:
BMC Cardiovascular Disorders, Vol 23, Iss 1, Pp 1-9 (2023)
Abstract Background Among all fetal heart block patients, > 50% cases are associated with maternal autoimmune diseases, and such patients should receive treatment. However, nearly half of fetal heart block cases involve a mother with negative results
Externí odkaz:
https://doaj.org/article/ddf8f91aef0b410894a4901375c440b0
Autor:
Zequn Zheng, Yongfei Song
Publikováno v:
BMC Bioinformatics, Vol 24, Iss 1, Pp 1-16 (2023)
Abstract KCNH2 encodes the human ether-a-go-go-related gene (hERG) potassium channel and is an important repolarization reserve for regulating cardiac electrical activity. Increasing evidence suggests that it is involved in the development of various
Externí odkaz:
https://doaj.org/article/4a941101ffd34b39820000eed41f2ced