Results 151 to 160 of about 4,086 (181)

Investigation of Missense Mutations in KCNJ2 Gene: A Computational Approach

Research Journal of Pharmacy and Technology, 2015
Though gene are already known to be responsible for ATS, but the knowledge of missense mutation that disease gene have still to be under covered. The present study has focused aims to address this issue particularly in KCNJ2 (Potassium Inwardly-Rectifying Channel, Subfamily J, Member 2) gene aid of computational approach. Initially 64 missense mutation
Kanika Verma, V. Shanthi, K. Ramanathan
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KCNJ2 and the Andersen–Tawil Syndrome

2008
Abstract Andersen–Tawil syndrome (ATS) (OMIM 170390) is a rare auto- somadominant disorder characterized by the triad of dysmorphic features, prolonged QT intervals with ventricular dysrhythmias, and episodic paralysis (Tawil et al., 1994; Sansone et al., 1997; Canún et al., 1999).
David R Renner, Rabi Tawil, Martin Tristani-Firouzi,, Louis J Ptácˇ Ek   +3 more
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Novel de novo Mutation in the KCNJ2 Gene in a Patient With Andersen-Tawil Syndrome

Pediatric Neurology, 2009
Andersen-Tawil syndrome is a rare autosomal-dominant disease characterized by episodic muscle weakness, cardiac arrhythmias, and dysmorphic features. Mutations in the KCNJ2 gene (which encodes an inward-rectifying potassium channel protein, Kir2.1) have been reported to be responsible for this disorder.
June-Bum, Kim, Ki-Wha, Chung
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Arrhythmogenesis in a Novel Murine Model with KCNJ2 Mutation of Familial Atrial Fibrillation

Heart Rhythm, 2013
Background A family with inherited atrial fibrillation (AF) has been discovered expressing a gain of function mutation (V93I) in the KCNJ2 gene coding the strong inward rectifier potassium channel expressing the current IK1. Our objective is to determine the biophysical alterations in Ik1 caused by this mutation and its consequential arrhythmogenesis.
H. Musa, L. Carlton, M. Klos, K. Vikstrom, J. Anumonwo, J. Jalife, O. Berenfeld   +6 more
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Novel KCNJ2 mutation associated with Andersen-Tawil syndrome: Nova mutacija kanalčka KCNJ2 pri bolnici s sindromom Andersen-Tawil:

2013
Andersen-Tawil syndrome (ATS) is a rare inherited or sporadic disorder characterized by ventricular arrhythmias, characteristic QT-U wave patterns inelectrocardiogram, periodic paralysis, and dysmorphic features. We describe a patient of Slovenian origin who exhibited mild dysmorphic features, repetitive bidirectional and monomorphic ventricular ...
Antolič, Bor, Debeljak, Maruša, Jan, Matevž, Kovač, Jernej, Pernat, Andrej, Šinkovec, Matjaž, Trebušak Podkrajšek, Katarina   +6 more
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KCNJ2 in Monocytes Serves as a Clinical Signature and Therapeutic Target for Sepsis

Background:&nbsp;Sepsis is characterized by a dysregulated host response, in which monocytes are pivotal drivers of systemic hyperinflammation and lethal organ dysfunction. There is an urgent clinical need to identify distinct clinical signatures for early patient stratification and to uncover novel therapeutic targets.<br><br>Methods ...
Ning Hua, Xiaohui Yang, Limin Kong, Qing You, Jianan Wu, Yanping Luo, Jingxiang Wang, Yuanzhi Ju, Na Chen, Tingting Qu, Wei Zheng, Wen-Qiao Yu, Jia-Wei Shen, Wei Yang, Saiping Jiang   +14 more
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Phenotypic Findings in Patients With KCNJ2 -Related Anderson-Tawil Syndrome

Neurology, 2022
Meabh, O'Hare, Reza, Sadjadi
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Kcnj2 Regulates Electrical Activity-Induced Gene Networks in Embryonic Mouse Palate Shelves

Developmental Biology
Cleft palate interferes with eating, drinking, breathing, and speech, causing significant human suffering. Fetal exposure to many medications that target ion channels increases the incidence of cleft palate. Cleft palate could be prevented by understanding how ion channels contribute to palatal development.
Yunus H, Ozekin, Rebecca, O'Rourke, Emily Anne, Bates   +2 more
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Action Potential Abnormalities due to Loss- or Gain-of-Function Mutations in KCNJ2. [PDF]

, 2014
Andersen-Tawil syndrome type 1 (ATS1) and short QT syndrome type 3 (SQT3) are associated with loss-of-function and gain-of-function mutations in the KCNJ2 gene, respectively. This gene encodes the Kir2.1 protein, which is the most abundant member of the Kir2.x family in the Kir2.x tetramers that constitute the channels that conduct the cardiac inward ...
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KCNJ2 mutation in intractable ventricular arrhythmia with Andersen's syndrome

Pediatrics International, 2005
Tohru, Takahashi, Satoshi, Tandai, Tsutomu, Toki, Takumi, Sato, Shuji, Eto, Akira, Sato, Tomomi, Ueda, Sumito, Sato, Kouta, Ichinose, Etsuro, Ito, Susumu, Yonesaka   +10 more
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