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Li-MinGONG
35Publications
22H-index
2,976Citations
Publications 35
Newest
#1Stephanie Wallace (University of Texas Health Science Center at Houston)H-Index: 3
#2Ellen S. Regalado (University of Texas Health Science Center at Houston)H-Index: 24
Last.Catherine Boileau (Paris Diderot University)H-Index: 55
view all 20 authors...
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 and information to guide aortic disease management are limited. Clinical data from 60 cases with MYLK pathogenic variants were analyzed (five null and two missense variants), and the effect of missense variants on kinase activity was assessed. Twenty-three individuals (39%) experienced an aortic event (defined as aneurysm rep...
#1Callie S. Kwartler (University of Texas Health Science Center at Houston)H-Index: 11
#2Li-MinGONG (University of Texas Health Science Center at Houston)H-Index: 22
Last.James T. Stull (UTSW: University of Texas Southwestern Medical Center)H-Index: 65
view all 12 authors...
Thoracic aortic aneurysms leading to acute aortic dissections are a preventable cause of premature deaths if individuals at risk can be identified. Individuals with early-onset aortic dissections without a family history or syndromic features have an increased burden of rare genetic variants of unknown significance (VUSs) in genes with pathogenic variants for heritable thoracic aortic disease (HTAD). We assessed the role of VUSs in the development of disease using both in vitro enzymatic assays ...
#1Jiyuan Chen (University of Texas Health Science Center at Houston)H-Index: 4
#2Andrew M. Peters (University of Texas Health Science Center at Houston)H-Index: 4
Last.K. L. Byanova (University of Texas Health Science Center at Houston)H-Index: 4
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Rationale: Mutations in ACTA2 , encoding the smooth muscle isoform of α-actin, cause thoracic aortic aneurysms, acute aortic dissections, and occlusive vascular diseases. Objective: We sought to identify the mechanism by which loss of smooth muscle α-actin causes aortic disease. Methods and Results: Acta2 −/− mice have an increased number of elastic lamellae in the ascending aorta and progressive aortic root dilation as assessed by echocardiography that can be attenuated by treatment with losart...
#1Jiyuan Chen (University of Texas Health Science Center at Houston)H-Index: 4
#2Andrew M. Peters (University of Texas Health Science Center at Houston)H-Index: 4
Last.Katerina L. Byanova (BIDMC: Beth Israel Deaconess Medical Center)H-Index: 1
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Rationale: Mutations in ACTA2, encoding the smooth muscle isoform of α-actin (SM α-actin), cause thoracic aortic aneurysms, acute aortic dissections, and occlusive vascular diseases. Objective: We sought to identify the mechanism by which loss of SM α-actin causes aortic disease. Methods and Results: Acta2 -/- mice have an increased number of elastic lamellae in the ascending aorta and progressive aortic root dilation as assessed by echocardiography that can be attenuated by treatment with losar...
#1Dianna M. MilewiczH-Index: 56
#2Ellen M. Hostetler (University of Texas Health Science Center at Houston)H-Index: 6
Last.Ellen S. RegaladoH-Index: 24
view all 8 authors...
Almost one-quarter of patients presenting with thoracic aortic aneurysms (TAAs) or acute aortic dissections (TAADs) have an underlying mutation in a specific gene. A subset of these patients will have systemic syndromic features, for example, skeletal features in patients with Marfan Syndrome. It is important to note that the majority of patients with thoracic aortic disease will not have these syndromic features but many will have a family history of the disease. The genes predisposing to these...
#1Dongchuan Guo (University of Texas Health Science Center at Houston)H-Index: 32
#2Ellen S. Regalado (University of Texas Health Science Center at Houston)H-Index: 24
Last.Rocio Moran (MetroHealth)H-Index: 16
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Rationale: Mutations in several genes have been identified that are responsible for 25% of families with familial thoracic aortic aneurysms and dissections. However, the causative gene remains unknown in 75% of families. Objectives: To identify the causative mutation in families with autosomal dominant inheritance of thoracic aortic aneurysms and dissections. Methods and Results: Exome sequencing was used to identify the mutation responsible for a large family with thoracic aortic aneurysms and ...
#1Shao Qing Kuang (University of Texas Health Science Center at Houston)H-Index: 7
Last.Callie S. Kwartler (University of Texas Health Science Center at Houston)H-Index: 11
view all 23 authors...
The ascending thoracic aorta is designed to withstand biomechanical forces from pulsatile blood. Thoracic aortic aneurysms and acute aortic dissections (TAADs) occur as a result of genetically triggered defects in aortic structure and a dysfunctional response to these forces. Here, we describe mutations in the forkhead transcription factor FOXE3 that predispose mutation-bearing individuals to TAAD. We performed exome sequencing of a large family with multiple members with TAADs and identified a ...
#1Dongchuan Guo (University of Texas Health Science Center at Houston)H-Index: 32
#2Li-MinGONG (University of Texas Health Science Center at Houston)H-Index: 22
Last.Ann Muilenburg (UI: University of Iowa)H-Index: 9
view all 23 authors...
Up to 20% of individuals who have thoracic aortic aneurysms or acute aortic dissections but who do not have syndromic features have a family history of thoracic aortic disease. Significant genetic heterogeneity is established for this familial condition. Whole-genome linkage analysis and exome sequencing of distant relatives from a large family with autosomal-dominant inheritance of thoracic aortic aneurysms variably associated with the bicuspid aortic valve was used for identification of additi...
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