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Dongchuan Guo
University of Texas Health Science Center at Houston
97Publications
32H-index
4,627Citations
Publications 97
Newest
#1Amélie Pinard (University of Texas Health Science Center at Houston)H-Index: 2
#2Stéphanie Guey (Paris Diderot University)H-Index: 1
Last.Françoise Bergametti (Paris Diderot University)H-Index: 1
view all 18 authors...
Moyamoya angiopathy (MMA) is a cerebrovascular disease characterized by occlusion of large arteries, which leads to strokes starting in childhood. Twelve altered genes predispose to MMA but the majority of cases of European descent do not have an identified genetic trigger. Exome sequencing from 39 trios were analyzed. We identified four de novo variants in three genes not previously associated with MMA: CHD4, CNOT3, and SETD5. Identification of additional rare variants in these genes in 158 unr...
#1Sherene Shalhub (UW: University of Washington)H-Index: 13
#2Ellen S. Regalado (University of Texas Health Science Center at Houston)H-Index: 24
Last.Dianna M. Milewicz (University of Texas Health Science Center at Houston)H-Index: 56
view all 4 authors...
Abstract Objective The c.530G>A (p.Arg177Gln) mutation in PRKG1 has been shown to be associated with thoracic aortic aneurysms and dissections. This rare mutation accounts for an estimated 1% of nonsyndromic heritable thoracic aortic disease. We sought to describe the clinical presentation of type B aortic dissection (TBAD), management, and outcomes in patients with this mutation. Methods This is a descriptive multi-institutional retrospective study of patients from six families with the PRKG1 m...
#1Xue-Yan Duan (University of Texas Health Science Center at Houston)H-Index: 1
#2Dongchuan Guo (University of Texas Health Science Center at Houston)H-Index: 32
Last.Deborah A. Nickerson (UW: University of Washington)H-Index: 90
view all 12 authors...
SMAD4 pathogenic variants cause juvenile polyposis (JPS) and hereditary hemorrhagic telangiectasia (HHT), and 40% of affected individuals also have thoracic aortic disease. At the same time, SMAD4 pathogenic variants have not been reported in thoracic aortic disease families without JPS-HHT. A SMAD4 heterozygous variant, c.290G>T, p.(Arg97Leu), not present in population databases and predicted to be damaging to protein function, was identified in a family with thoracic aortic disease and no evid...
#1Brooke N. Wolford (UM: University of Michigan)H-Index: 4
#2Whitney Hornsby (UM: University of Michigan)H-Index: 6
Last.Ellen M. SchmidtH-Index: 17
view all 24 authors...
Background: Thoracic aortic dissection is an emergent life-threatening condition. Routine screening for genetic variants causing thoracic aortic dissection is not currently performed for patients o...
#1Siddharth K. Prakash (University of Texas Health Science Center at Houston)H-Index: 21
#2Angela Yetman (University of Texas Health Science Center at Houston)
Last.Jacqueline Jennings (University of Texas Health Science Center at Houston)
view all 16 authors...
Bicuspid Aortic Valve (BAV), the most common adult congenital heart defect, is a major cause of aortic insufficiency or stenosis requiring valve replacement and thoracic aortic aneurysms predisposing to acute aortic dissections. The spectrum of BAV ranges from early onset valve and aortic
#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...
#1Brooke N. Wolford (UM: University of Michigan)H-Index: 4
#2Whitney Hornsby (UM: University of Michigan)H-Index: 6
Last.Ellen M. SchmidtH-Index: 17
view all 24 authors...
Background: Thoracic aortic dissection is an emergent life-threatening condition. Routine screening for genetic variants causing thoracic aortic dissection is not currently performed for patients or their family members. Methods: We performed whole exome sequencing of 240 patients with thoracic aortic dissection (n=235) or rupture (n=5) and 258 controls matched for age, sex, and ancestry. Blinded to case-control status, we annotated variants in 11 genes for pathogenicity. Results: Twenty-four pa...
#1Anna Helgadottir (Amgen)H-Index: 24
#2Gudmar Thorleifsson (Amgen)H-Index: 112
Last.Niek Verweij (Broad Institute)H-Index: 35
view all 46 authors...
Aortic valve stenosis (AS) is the most common valvular heart disease, and valve replacement is the only definitive treatment. Here we report a large genome-wide association (GWA) study of 2,457 Icelandic AS cases and 349,342 controls with a follow-up in up to 4,850 cases and 451,731 controls of European ancestry. We identify two new AS loci, on chromosome 1p21 near PALMD (rs7543130; odds ratio (OR) = 1.20, P = 1.2 × 10−22) and on chromosome 2q22 in TEX41 (rs1830321; OR = 1.15, P = 1.8 × 10−13). ...
#1Marjolijn Renard (UGent: Ghent University)H-Index: 17
#2Catherine Francis (NIH: National Institutes of Health)H-Index: 4
Last.Bert Callewaert (UGent: Ghent University)H-Index: 26
view all 22 authors...
Abstract Background Thoracic aortic aneurysms progressively enlarge and predispose to acute aortic dissections. Up to 25% of individuals with thoracic aortic disease harbor an underlying Mendelian pathogenic variant. An evidence-based strategy for selection of genes to test in hereditary thoracic aortic aneurysm and dissection (HTAAD) helps inform family screening and intervention to prevent life-threatening thoracic aortic events. Objectives The purpose of this study was to accurately identify ...
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