Results 31 to 40 of about 4,086 (181)

A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome [PDF]

, 2022
Cooks syndrome (CS) is an ultrarare limb malformation due to in tandem microduplications involving KCNJ2 and extending to the 5' regulatory element of SOX9. To date, six CS families were resolved at the molecular level.
Micale, L., Notarangelo, A., Bertelli, M., Bernardini, L., Manara, E., Guerri, G., Giuffrida, M.G., Bianco, S., Castori, M., Palumbo, O., Chiariello, A.M., Cinque, L., Esposito, A., Nicodemi, M.   +13 more
core   +2 more sources

Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients [PDF]

BMC Medical Genetics, 2017
Background Mutations in the KCNJ2 gene encoding the ion channel Kir2.1 have been linked to the Andersen-Tawil syndrome (ATS). Molecular genetic screening performed in a family exhibiting clinical ATS phenotypes unmasked a novel sequence variant (c.434A > 
Stefanie Scheiper, Brigitte Hertel, Britt-Maria Beckmann, Stefan Kääb, Gerhard Thiel, Silke Kauferstein   +5 more
doaj   +2 more sources

Expression of a Mutant kcnj2 Gene Transcript in Zebrafish. [PDF]

ISRN molecular biology, 2013
Long QT 7 syndrome (LQT7, also known as Andersen-Tawil syndrome) is a rare autosomal-dominant disorder that causes cardiac arrhythmias, periodic paralysis, and dysmorphic features. Mutations in the human KCNJ2 gene, which encodes for the subunit of the potassium inwardly-rectifying channel (IK1), have been associated with the disorder.
Leong, Ivone U. S., Skinner, Jonathan R., Shelling, Andrew N., Love, Donald R.   +3 more
openaire   +2 more sources

Phenotype Variability in Patients CarryingKCNJ2Mutations [PDF]

Circulation: Cardiovascular Genetics, 2012
Background—Mutations ofKCNJ2, the gene encoding the human inward rectifier potassium channel Kir2.1, cause Andersen-Tawil syndrome (ATS), a disease exhibiting ventricular arrhythmia, periodic paralysis, and dysmorphic features. However, someKCNJ2mutation carriers lack the ATS triad and sometimes share the phenotype of catecholaminergic polymorphic ...
Hiromi, Kimura, Jun, Zhou, Mihoko, Kawamura, Hideki, Itoh, Yuka, Mizusawa, Wei-Guang, Ding, Jie, Wu, Seiko, Ohno, Takeru, Makiyama, Akashi, Miyamoto, Nobu, Naiki, Qi, Wang, Yu, Xie, Tsugutoshi, Suzuki, Shigeru, Tateno, Yoshihide, Nakamura, Wei-Jin, Zang, Makoto, Ito, Hiroshi, Matsuura, Minoru, Horie   +19 more
openaire   +6 more sources

Nova mutacija kanalčka KCNJ2 pri bolnici s sindromom Andersen-Tawil

Zdravniški Vestnik, 2013
Andersen-Tawil syndrome (ATS) is a rare inherited or sporadic disorder characterized by ventricular arrhythmias, characteristic QT-U wave patterns in electrocardiogram, periodic paralysis, and dysmorphic features.
Matjaž Šinkovec, Andrej Pernat, Matevž Jan, Bor Antolič, Jernej Kovač, Katarina Trebušak Podkrajšek, Maruša Debeljak   +6 more
doaj   +1 more source

Overexpression of KCNJ2 enhances maturation of human-induced pluripotent stem cell-derived cardiomyocytes

Stem Cell Research & Therapy, 2023
Background Although human-induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) are a promising cell resource for cardiovascular research, these cells exhibit an immature phenotype that hampers their potential applications.
Jingjun Zhou, Baiping Cui, Xiaochen Wang, Hongkun Wang, Junnan Zheng, Fengfeng Guo, Yaxun Sun, Hangping Fan, Jiaxi Shen, Jun Su, Jue Wang, Haige Zhao, Yiquan Tang, Tingyu Gong, Ning Sun, Ping Liang   +15 more
doaj   +1 more source

Sour Taste SNP KCNJ2-rs236514 and Differences in Nutrient Intakes and Metabolic Health Markers in the Elderly

Frontiers in Nutrition, 2021
Single nucleotide polymorphisms (SNPs) in taste receptors influence dietary choices that contribute to health and quality of life. Individual differences in sour taste perception and preference have been linked to heritable genetics, yet the impact of ...
Celeste Ferraris, Alexandria Turner, Christopher J. Scarlett, Martin Veysey, Martin Veysey, Mark Lucock, Tamara Bucher, Tamara Bucher, Tamara Bucher, Emma L. Beckett, Emma L. Beckett, Emma L. Beckett   +11 more
doaj   +1 more source

A case report of Andersen-Tawil syndrome misdiagnosed with myodystrophy

Frontiers in Neurology, 2023
Andersen-Tawil syndrome (ATS) is a rare periodic paralysis caused by the KCNJ2 gene mutation. Here, we report on an ATS patient misdiagnosed with myodystrophy.
Xiuqin Zhao, Hengbing Zu, Kai Yao
doaj   +1 more source

Proarrhythmia in KCNJ2-linked short QT syndrome: insights from modelling [PDF]

Cardiovascular Research, 2012
One form of the short QT syndrome (SQT3) has been linked to the D172N gain-in-function mutation to Kir2.1, which preferentially increases outward current through channels responsible for inward rectifier K(+) current (I(K1)). This study investigated mechanisms by which the Kir2.1 D172N mutation facilitates and perpetuates ventricular arrhythmias.The ...
Adeniran, Ismail, El Harchi, Aziza, Hancox, Jules C, Zhang, Henggui   +3 more
openaire   +3 more sources

Image4_Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome.TIF

, 2021
Andersen-Tawil Syndrome (ATS) is a rare disease defined by the association of cardiac arrhythmias, periodic paralysis and dysmorphic features, and is caused by KCNJ2 loss-of-function mutations.
Pascal Amedro (11754329), Alexandre Janin (11754332), Nathalie Roux-Buisson (10258445), Mathilde Folacci (11754326), Julien Fauré (5771993), Lucile Pinson (11130013), Gilles Millat (277846), Pauline Le Tanno (11754323), Michel Vivaudou (141672), Jean Revilloud (226552), Gabriel Laurent (737615), Laurence Faivre (397333)   +11 more
core   +1 more source