Recessive cardiac phenotypes in induced pluripotent stem cell models of Jervell and Lange-Nielsen syndrome: Disease mechanisms and pharmacological rescue

Proceedings of the National Academy of Sciences of the United States of America

Volumn 111, Issue 50, 2014, Pages E5383-E5392

  Zhang, Miao ^a,b   D'Aniello, Cristina ^c   Verkerk, Arie O ^d   Wrobel, Eva ^e   Frank, Stefan ^a,b   Ward Van Oostwaard, Dorien ^c   Piccini, Ilaria ^e   Freund, Christian ^c   Rao, Jyoti ^a,b   Seebohm, Guiscard ^e   Atsma, Douwe E ^c   Schulze Bahr, Eric ^e   Mummery, Christine L ^c   Greber, Boris ^a,b   Bellin, Milena ^c  

^a MAX PLANCK INSTITUTE FOR MOLECULAR BIOMEDICINE   (Germany)

^b CHEMICAL GENOMICS CENTRE OF THE MAX PLANCK SOCIETY   (Germany)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

^e UNIVERSITY HOSPITAL MÜNSTER   (Germany)

Author keywords

Disease modeling; Human induced pluripotent stem cells; Jervell and Lange Nielsen syndrome; KCNQ1; Long QT syndrome

Indexed keywords

ACTION POTENTIAL; ADRENERGIC STIMULATION; ARTICLE; CELL MEMBRANE; CONTROLLED STUDY; ELECTRIC POTENTIAL; ELECTROPHYSIOLOGY; GENE; GENE DOSAGE; GENETIC DISORDER; GENETIC ENGINEERING; HEART MUSCLE CELL; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; JERVELL AND LANGE-NIELSEN SYNDROME; KCNQ1 GENE; MISSENSE MUTATION; MOLECULAR MECHANICS; NUCLEAR REPROGRAMMING; PHENOTYPE; PLURIPOTENT STEM CELL; PROTEIN EXPRESSION; RECESSIVE INHERITANCE; WILD TYPE; ANALYSIS OF VARIANCE; BIOLOGICAL MODEL; CELL LINE; CHEMICAL STRUCTURE; CHEMISTRY; DNA SEQUENCE; GENETICS; IN VITRO STUDY; JERVELL-LANGE NIELSEN SYNDROME; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PHYSIOLOGY; RECESSIVE GENE;

KCNQ1 PROTEIN, HUMAN; POTASSIUM CHANNEL KCNQ1;

ACTION POTENTIALS; ANALYSIS OF VARIANCE; BASE SEQUENCE; CELL LINE; GENES, RECESSIVE; GENETIC ENGINEERING; HUMANS; IN VITRO TECHNIQUES; INDUCED PLURIPOTENT STEM CELLS; JERVELL-LANGE NIELSEN SYNDROME; KCNQ1 POTASSIUM CHANNEL; MODELS, BIOLOGICAL; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; MYOCYTES, CARDIAC; PHENOTYPE; SEQUENCE ANALYSIS, DNA;

EID: 84918553552     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1419553111     Document Type: Article

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