MYLK Mutations: Aortic Disease Presentation, Pregnancy Risk, …
MYLK encodes the Ca 2+/ calmodulin-dependent myosin light chain kinase (MLCK), which phosphorylates the regulatory light chain to initiate contraction in smooth muscle cells. Using a …
Genetics of Thoracic and Abdominal Aortic Diseases:
Feb 14, 2019 · Patients with mutations in the MYLK gene, present with aortic dissection with little to no aortic enlargement. 62,63 MYLK mutations are located in the short form of myosin light …
The Genetics of Aortic Aneurysms - American College of Cardiology
May 2, 2018 · MYLK encodes myosin light chain kinase and is associated with a familial syndrome characterized by acute aortic dissection often with absent, or very small, preceding …
Mutations in Myosin Light Chain Kinase Cause Familial Aortic ...
Nov 10, 2023 · To investigate whether mutations in the kinase that controls SMC contractile function (myosin light chain kinase [MYLK]) cause FTAAD, we sequenced MYLK by using …
Ehlers Danlos syndrome with a likely monogenic cause - Genomics …
Mar 18, 2021 · Lab experience indicates that MYLK pathogenic mutations can present with EDS features. Variants in this GENE are reported as part of current diagnostic practice. Red List …
The genetics and genomics of thoracic aortic disease
May 12, 2013 · The MYLK gene is localized on chromosome 3 (3q21.1) and accounts for 1% of all FTAA mutations. Mutations in MYLK , which encodes myosin light chain kinase (MLCK), have …
A novel variant in MYLK causes thoracic aortic dissections: …
Sep 1, 2016 · In 2010, mutations in the gene encoding myosin light chain kinase gene (MYLK; protein MLCK; chromosome 3q21.1) were shown to cause aortic dissections [7]. Two novel …
MYLK pathogenic variants aortic disease presentation
Purpose: Heritable thoracic aortic disease can result from null variants in MYLK, which encodes myosin light-chain kinase (MLCK). Data on which MYLK missense variants are pathogenic …
Identification of MYLK3 mutations in familial dilated …
WES analysis identified candidate pathogenic mutations in three affected individuals within one pedigree, and led to the discovery of a MYLK3 read-through mutation. Subsequent MYLK3 …
MYLK pathogenic variants aortic disease ... - Genetics in Medicine
MYLK encodes the Ca 2+ /calmodulin (CaM)-dependent myosin light-chain kinase (MLCK), which phosphorylates the regulatory light chain to initiate contraction in smooth muscle cells. Using a …
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