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Shao Qing Kuang
University of Texas Health Science Center at Houston
7Publications
7H-index
374Citations
Publications 7
Newest
#1Shao Qing Kuang (University of Texas Health Science Center at Houston)H-Index: 7
Last.Dianna M. Milewicz (University of Texas Health Science Center at Houston)H-Index: 58
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 ...
35 CitationsSource
#1Shao Qing Kuang (University of Texas Health Science Center at Houston)H-Index: 7
#2Liang Geng (University of Texas Health Science Center at Houston)H-Index: 1
Last.Dianna M. Milewicz (University of Texas Health Science Center at Houston)H-Index: 58
view all 10 authors...
Objective— Although hypertension is the most common risk factor for thoracic aortic diseases, it is not understood how increased pressures on the ascending aorta lead to aortic aneurysms. We investigated the role of angiotensin II type 1 receptor activation in ascending aortic remodeling in response to increased biomechanical forces using a transverse aortic constriction (TAC) mouse model. Approach and Results— Two weeks after TAC, the increased biomechanical pressures led to ascending aortic di...
32 CitationsSource
#1Shao Qing Kuang (University of Texas Health Science Center at Houston)H-Index: 7
#2Callie S. Kwartler (University of Texas Health Science Center at Houston)H-Index: 13
Last.Dianna M. Milewicz (University of Texas Health Science Center at Houston)H-Index: 58
view all 11 authors...
Rationale: Mutations in myosin heavy chain ( MYH11 ) cause autosomal dominant inheritance of thoracic aortic aneurysms and dissections. At the same time, rare, nonsynonymous variants in MYH11 that are predicted to disrupt protein function but do not cause inherited aortic disease are common in the general population and the vascular disease risk associated with these variants is unknown. Objective: To determine the consequences of the recurrent MYH11 rare variant, R247C, through functional studi...
50 CitationsSource
#1Jiumei CaoH-Index: 8
#2Li-MinGONGH-Index: 23
Last.Dianna M. MilewiczH-Index: 58
view all 10 authors...
Tuberous sclerosis complex (TSC) is a genetic disorder with pleiotropic manifestations caused by heterozygous mutations in either TSC1 or TSC2. One of the less investigated complications of TSC is the formation of aneurysms of the descending aorta, which are characterized on pathologic examination by smooth muscle cell (SMC) proliferation in the aortic media. SMCs were explanted from Tsc2+/− mice to investigate the pathogenesis of aortic aneurysms caused by TSC2 mutations. Tsc2+/− SMCs demonstra...
29 CitationsSource
#1Carlos Villamizar (University of Texas Health Science Center at Houston)H-Index: 7
#2Ellen S. Regalado (University of Texas Health Science Center at Houston)H-Index: 25
Last.Dianna M. Milewicz (University of Texas Health Science Center at Houston)H-Index: 58
view all 15 authors...
Abstract Marfan syndrome (MFS) is an autosomal dominant condition with pleiotropic manifestations involving the skeletal, ocular, and cardiovascular systems. The diagnosis is based primarily on clinical involvement of these and other systems, referred to as the Ghent criteria. We have identified three Hispanic families from Mexico with cardiovascular and ocular manifestations due to novel FBN1 mutations but with paucity of skeletal features. The largest family, hMFS001, had a frameshift mutation...
9 CitationsSource
#1Dongchuan Guo (University of Texas Health Science Center at Houston)H-Index: 33
#2Sumera N. Hasham (University of Texas Health Science Center at Houston)H-Index: 7
Last.Dianna M. Milewicz (University of Texas Health Science Center at Houston)H-Index: 58
view all 11 authors...
Background—Aneurysms and dissections affecting the ascending aorta are associated primarily with degeneration of the aortic media, called medial necrosis. Families identified with dominant inheritance of thoracic aortic aneurysms and dissections (TAA/dissections) indicate that single gene mutations can cause medial necrosis in the absence of an associated syndrome. Methods and Results—Fifteen families were identified with multiple members with TAAs/dissections. DNA from affected members from 2 o...
199 CitationsSource
#1Shao Qing Kuang (University of Texas Health Science Center at Houston)H-Index: 7
#2Sumera N. Hasham (University of Texas Health Science Center at Houston)H-Index: 7
Last.Dianna M. Milewicz (University of Texas Health Science Center at Houston)H-Index: 58
view all 7 authors...
A large east Texas family with autosomal dominant inheritance of a novel bleeding disorder has been identified. The disorder is characterized clinically by easy bruising, life-threatening bleeding with trauma or surgery, and menorrhagia in affected women. Laboratory studies demonstrated prolongation of the prothrombin time and activated partial thromboplastin time in affected individuals. Paradoxically, assays of known coagulation factors are all within normal limits. To determine the molecular ...
20 CitationsSource
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