نتایج جستجو برای: d76n

تعداد نتایج: 45  

Journal: :The Biochemical journal 2010
Renjian Zheng Keith Thompson Edmond Obeng-Gyimah Dana Alessi Jerri Chen Huiyong Cheng Thomas V McDonald

Ion channel subunits encoded by KCNQ1 and KCNE1 produce the slowly activating K+ current (IKs) that plays a central role in myocardial repolarization. The KCNQ1 alpha-subunit and the KCNE1 beta-subunit assemble with their membrane-spanning segments interacting, resulting in transformation of channel activation kinetics. We recently reported a functional interaction involving C-terminal portions...

Journal: :Heart Rhythm 2023

Type 5 long QT syndrome (LQT5) is a subtype of caused by loss function variants in KCNE1 encoding key potassium channel function-modifying subunit. LQT5 cases are rare and incompletely penetrant, so it has been controversial whether disease-causing or risk-modifying. We identified 9 local probands carrying the D76N variant, most common variant implicated LQT5. To test hypothesis that these shar...

Journal: :Heart Rhythm 2023

Type 5 long QT syndrome (LQT5) is a subtype of caused by loss function variants in KCNE1 encoding key potassium channel function-modifying subunit. LQT5 cases are rare and incompletely penetrant, so it has been controversial whether disease-causing or risk-modifying. We identified 9 local probands carrying the D76N variant, most common variant implicated LQT5. To test hypothesis that these shar...

Journal: :Immunity 2021

•β2m that accumulates in multiple myeloma (MM) is ingested by MM-associated macrophages•β2m uptake leads to β-fibril aggregation, lysosomal rupture, and inflammasome activation•β2m contributes inflammation MM via IL-1β IL-18 secretion•Inhibition of NLRP3 delays onset reduces severity preclinical models As substantial constituents the microenvironment, pro-inflammatory macrophages have emerged a...

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