scholarly journals Pegcetacoplan for refractory paroxysmal nocturnal haemoglobinuria associated with the C5 genetic variant

2021 ◽  
Author(s):  
Shinobu Tamura ◽  
Yoshikazu Hori ◽  
Takayuki Hiroi ◽  
Masaya Morimoto ◽  
Yusuke Yamashita ◽  
...  
Keyword(s):  
Genetic Variant ◽  
Paroxysmal Nocturnal Haemoglobinuria

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.

Genetic Variant in lncRNA RP11-462G12.2 Confers the Risk of Non-Syndromic Orofacial Clefts

2018 ◽  
Author(s):  
Yun Lu ◽  
Lan Ma ◽  
Min Xu ◽  
Chi Zhang ◽  
Dandan Li ◽  
...  
Keyword(s):  
Genetic Variant ◽  
Orofacial Clefts
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