IDENTIFICATION OF NOVEL MUTATIONS ASSOCIATED WITH CARDIAC PRKAG2 SYNDROME

被引:0
|
作者
Hu, Dan [1 ]
Barr, Daniel [1 ]
McManus, Heather [1 ]
Balderrabano-Saucedo, Norma [1 ]
Pfeiffer, Ryan [1 ]
Barajas, Hector [1 ]
Hu, Dong [1 ]
机构
[1] Masonic Med Res Lab, Utica, NY USA
关键词
D O I
10.1016/S0735-1097(17)34316-4
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
1294-260
引用
收藏
页码:927 / 927
页数:1
相关论文
共 50 条
  • [41] Genome editing with CRISPR/Cas9 in postnatal mice corrects PRKAG2 cardiac syndrome
    Chang Xie
    Ya-Ping Zhang
    Lu Song
    Jie Luo
    Wei Qi
    Jialu Hu
    Danbo Lu
    Zhen Yang
    Jian Zhang
    Jian Xiao
    Bin Zhou
    Jiu-Lin Du
    Naihe Jing
    Yong Liu
    Yan Wang
    Bo-Liang Li
    Bao-Liang Song
    Yan Yan
    Cell Research, 2016, 26 : 1099 - 1111
  • [42] Identification of the pathogenic effects of missense variants causing PRKAG2 cardiomyopathy
    Komurcu-Bayrak, Evrim
    Kalkan, Muhammed Abdulvahid
    Coban, Neslihan
    Ozsait-Selcuk, Bilge
    Bayrak, Fatih
    ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS, 2022, 727
  • [43] Novel PRKAG2 mutation responsible for the genetic syndrome of ventricular preexcitation and conduction system disease with childhood onset and absence of cardiac hypertrophy
    Gollob, MH
    Seger, JJ
    Gollob, TN
    Tapscott, T
    Gonzales, O
    Bachinski, L
    Roberts, R
    CIRCULATION, 2001, 104 (25) : 3030 - 3033
  • [44] DEVELOPMENT AND CHARACTERISATION OF A NOVEL KNOCK-IN MODEL OF PRKAG2 CARDIOMYOPATHY
    Yavari, A.
    Pinter, K.
    Ashrafian, H.
    Redwood, C.
    Watkins, H.
    HEART, 2009, 95 : A13 - A13
  • [45] Biallelic PRKAG2 Truncating Variants Are Associated with Severe Neonatal Cardiomyopathies
    Janin, Alexandre
    Gouy, Evan
    Putoux, Audrey
    Perouse-de-Monclos, Thomas
    Chevalier, Philippe
    Faucherre, Adele
    Mancilla Abaroa, Jourdano
    Jopling, Chris
    Collardeau Frachon, Sophie
    Radojevic, Jelena
    El Chehadeh, Salima
    Millat, Gilles
    CIRCULATION-GENOMIC AND PRECISION MEDICINE, 2023, 16 (03): : 277 - 279
  • [46] Increased α2 subunit-associated AMPK activity and PRKAG2 cardiomyopathy
    Ahmad, F
    Arad, M
    Musi, N
    He, HM
    Wolf, C
    Branco, D
    Perez-Atayde, AR
    Stapleton, D
    Bali, D
    Xing, YQ
    Tian, R
    Goodyear, LJ
    Berul, CI
    Ingwall, JS
    Seidman, CE
    Seidman, JG
    CIRCULATION, 2005, 112 (20) : 3140 - 3148
  • [47] A familial form of conduction defects associated with a PRKAG2 gene mutation
    Pochmalicki, G.
    Genest, M.
    Richard, P.
    Komajda, M.
    Charron, P.
    ARCHIVES DES MALADIES DU COEUR ET DES VAISSEAUX, 2007, 100 (09): : 760 - 765
  • [48] SGLT1, a novel cardiac glucose transporter, mediates increased glucose uptake in PRKAG2 cardiomyopathy
    Banerjee, Sanjay K.
    Wang, David W.
    Alzamora, Rodrigo
    Huang, Xueyin N.
    Pastor-Soler, Nuria M.
    Hallows, Kenneth R.
    McGaffin, Kenneth R.
    Ahmad, Ferhaan
    JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY, 2010, 49 (04) : 683 - 692
  • [49] A Novel Cardiac Glucose Transporter, SGLT1, Mediates Increased Glucose Uptake in PRKAG2 Cardiomyopathy
    Banerjee, Sanjay K.
    Wang, David
    Pastor-Soler, Nuria M.
    McGaffin, Kenneth R.
    Ahmad, Ferhaan
    CIRCULATION, 2009, 120 (18) : S619 - S619
  • [50] Prevalence and clinical characteristics of mutations in the gene for AMP kinase (PRKAG2) in hypertrophic cardiomyopathy
    Murphy, RT
    Mogensen, J
    Bahl, A
    McGarry, K
    McKenna, WJ
    CIRCULATION, 2003, 108 (17) : 264 - 264