scholarly journals Generation of iPSC line FAMRCi010-A from patient with restrictive cardiomyopathy carrying genetic variant FLNC p.Gly2011Arg

2021 ◽  
pp. 102639
Author(s):  
Kseniya Perepelina ◽  
Aleksandr Khudiakov ◽  
Nataliia Rodina ◽  
Aleksandr Boytsov ◽  
Tatiana Vavilova ◽  
...  
Keyword(s):  
Genetic Variant ◽  
Restrictive Cardiomyopathy ◽  
Ipsc Line

scholarly journals Generation of iPSC line (FAMRCi009-A) from patient with familial progressive cardiac conduction disorder carrying genetic variant FLNC p.Val2264Met

2021 ◽  
pp. 102640
Author(s):  
Nataliia Rodina ◽  
Aleksandr Khudiakov ◽  
Kseniya Perepelina ◽  
Aleksey Muravyev ◽  
Aleksandr Boytsov ◽  
...  
Keyword(s):  
Genetic Variant ◽  
Cardiac Conduction ◽  
Ipsc Line ◽  
Conduction Disorder

scholarly journals Establishment of a novel human iPSC line (YCMi003-A) from a patient with dilated cardiomyopathy carrying genetic variant LMNA p.Asp364His

2021 ◽  
pp. 102508
Author(s):  
Jaewon Oh ◽  
Sun-Ho Lee ◽  
Jungyoon Choi ◽  
Jong Rak Choi ◽  
Sangwoo Kim ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Genetic Variant ◽  
Ipsc Line ◽  
Human Ipsc

640 Can echocardiography offer a coherent interpretation of various entities included in restrictive cardiomyopathy?

1999 ◽  
Vol 1 ◽  
pp. S108-S108
Author(s):  
C GINGHINA ◽  
E APETREI ◽  
I STOIAN ◽  
M MARINESCU ◽  
I KULCSAR ◽  
...  
Keyword(s):  
Restrictive Cardiomyopathy

The role of exon II HTR2A transcript isoforms in the development of mental pathologies and antipsychotic therapy prognosis

2020 ◽  
pp. 24-26
Author(s):  
М.Н. Грунина ◽  
А.М. Заботина ◽  
А.С. Журавлев ◽  
Р.Ф. Насырова ◽  
А.Е. Тараскина
Keyword(s):  
Genetic Variant ◽  
Therapy Outcome ◽  
Gene Transcript ◽  
Antipsychotic Therapy ◽  
Transcript Isoforms ◽  
Alternative Isoforms ◽  
Htr2a Gene

Психические расстройства ассоциированы с нарушением паттерна изоформ транскриптов экзона II гена HTR2A за счет преобладания альтернативной изоформы Е2-. При этом высокий уровень экспрессии изоформы Е2- ассоциирован с благоприятным прогнозом антипсихотической терапии. The aim of the study was to analyze the role of exon II HTR2A gene transcript isoforms and rs6311 genetic variant in the development of mental pathologies and antipsychotic therapy prognosis. Alternative isoforms of exon II HTR2A are associated with the development of mental pathologies and is applicable to predict antipsychotic therapy outcome.

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