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Pathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study
Previous studies have identified pathogenic variants in 22% of Caucasian patients with diabetic kidney disease (DKD); however, this proportion may vary depending on ethnicity and updates to the database. Whole‐genome sequencing of 79 patients with DKD in Japan revealed that 34.1% had kidney‐related heterozygous pathogenic variants, and 12.7% had ...
Toyohiro Hashiba+5 more
wiley +1 more source
The ADAMTS13 enzyme processes a large protein called von Willebrand factor, which also plays a role in clot formation. The unprocessed form of von Willebrand factor interacts easily with cell fragments called platelets, which circulate in the bloodstream
semanticscholar +1 more source
Nonsense-mediated mRNA decay in the ADAMTS13 gene caused by a 29-nucleotide deletion
Background In mammalian cells a regulatory mechanism, known as nonsense-mediated mRNA decay, degrades mRNA harboring premature termination codons. This mechanism is intron-dependent and functions as a quality control mechanism to eliminate abnormal ...
Isabella Garagiola+5 more
doaj +1 more source
ADAMTS9, a member of the ADAMTS family, in Xenopus development [PDF]
Extracellular matrix (ECM) remodeling by metalloproteinases is crucial during development. The ADAMTS (A Disintegrin and Metalloproteinase with Thrombospondin type I motifs) enzymes are secreted, multi-domain matrix-associated zinc metalloendopeptidases ...
Boerboom+37 more
core +1 more source
The ADAMTS13–VWF axis is dysregulated in chronic thromboembolic pulmonary hypertension
Chronic thromboembolic pulmonary hypertension (CTEPH) is an important consequence of pulmonary embolism that is associated with abnormalities in haemostasis.
M. Newnham+31 more
semanticscholar +1 more source
Introduction Since the first description of Thrombotic Thrombocytopenic Purpura, caused by a severe deficiency of ADAMTS13, plasma exchange and immunosuppression have become standard treatments, allowing to decrease its high mortality rate.
Daniel Cathalifaud+6 more
doaj +1 more source
Von Willebrand factor and ADAMTS13 activity in relation to risk of dementia [PDF]
Low ADAMTS13 activity is associated with an increased risk of cardiovascular disease, which is generally attributed to its proteolytic effects on Von Willebrand factor (VWF). Cardiovascular health is an important determinant of cognitive decline, but the
Boender, J. (Johan)+9 more
core +1 more source
Acute kidney injury (AKI) is a serious condition without efficient therapeutic options. Recent studies have indicated that recombinant human a disintegrin and metalloprotease with thrombospondin motifs 13 (rhADAMTS13) provides protection against ...
Suhan Zhou+12 more
semanticscholar +1 more source
ABO Blood Groups and Cardiovascular Diseases [PDF]
ABO blood groups have been associated with various disease phenotypes, particularly cardiovascular diseases. Cardiovascular diseases are the most common causes of death in developed countries and their prevalence rate is rapidly growing in developing ...
Ciarán J. Mooney+2 more
core +1 more source
ABSTRACT Introduction This study examined the efficacy and safety of Rituximab (RTX) treatment in connective tissue disease (CTD)‐associated thrombocytopenic purpura (TTP) and thrombotic microangiopathy (TMA), using historical controls as comparators.
Naoaki Ohkubo+7 more
wiley +1 more source