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Dongchuan Guo
University of Texas Health Science Center at Houston
94Publications
32H-index
4,626Citations
Publications 94
Newest
Published on Mar 1, 2019in Journal of Vascular Surgery 3.24
Sherene Shalhub13
Estimated H-index: 13
(UW: University of Washington),
Ellen S. Regalado24
Estimated H-index: 24
(University of Texas Health Science Center at Houston)
+ 1 AuthorsDianna M. Milewicz56
Estimated H-index: 56
(University of Texas Health Science Center at Houston)
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...
Published on Feb 26, 2019in European Journal of Human Genetics 3.65
Xue-Yan Duan1
Estimated H-index: 1
(University of Texas Health Science Center at Houston),
Dongchuan Guo32
Estimated H-index: 32
(University of Texas Health Science Center at Houston)
+ 9 AuthorsDeborah A. Nickerson90
Estimated H-index: 90
(UW: University of Washington)
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...
Published on Jun 1, 2019
Brooke N. Wolford4
Estimated H-index: 4
(UM: University of Michigan),
Whitney Hornsby6
Estimated H-index: 6
(UM: University of Michigan)
+ 21 AuthorsEllen M. Schmidt16
Estimated H-index: 16
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...
Published on Mar 1, 2019in Journal of the American College of Cardiology 18.64
Siddharth K. Prakash21
Estimated H-index: 21
(University of Texas Health Science Center at Houston),
Angela Yetman (University of Texas Health Science Center at Houston)+ 13 AuthorsJacqueline Jennings (University of Texas Health Science Center at Houston)
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
Published on Jan 1, 2019in Genetics in Medicine 8.68
Stephanie Wallace3
Estimated H-index: 3
(University of Texas Health Science Center at Houston),
Ellen S. Regalado24
Estimated H-index: 24
(University of Texas Health Science Center at Houston)
+ 17 AuthorsCatherine Boileau55
Estimated H-index: 55
(Paris Diderot University)
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...
Published on Dec 17, 2018in bioRxiv
Brooke N. Wolford4
Estimated H-index: 4
(UM: University of Michigan),
Whitney Hornsby6
Estimated H-index: 6
(UM: University of Michigan)
+ 21 AuthorsEllen M. Schmidt16
Estimated H-index: 16
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...
Published on Aug 1, 2018in Journal of the American College of Cardiology 18.64
Marjolijn Renard17
Estimated H-index: 17
(UGent: Ghent University),
Catherine Francis4
Estimated H-index: 4
(NIH: National Institutes of Health)
+ 19 AuthorsBert Callewaert26
Estimated H-index: 26
(UGent: Ghent University)
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 ...
Published on Jul 1, 2018in American Journal of Human Genetics 9.92
Callie S. Kwartler11
Estimated H-index: 11
(University of Texas Health Science Center at Houston),
Li-MinGONG22
Estimated H-index: 22
(University of Texas Health Science Center at Houston)
+ 9 AuthorsJames T. Stull65
Estimated H-index: 65
(UTSW: University of Texas Southwestern Medical Center)
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 ...
Published on Apr 1, 2018in Developmental Cell 9.19
Kai Li Tan5
Estimated H-index: 5
(BCM: Baylor College of Medicine),
Nele A. Haelterman8
Estimated H-index: 8
(BCM: Baylor College of Medicine)
+ 11 AuthorsMichael J. Bamshad50
Estimated H-index: 50
(UW: University of Washington)
Summary Nuclei are actively positioned and anchored to the cytoskeleton via the LINC (Linker of Nucleoskeleton and Cytoskeleton) complex. We identified mutations in the Parkin-like E3 ubiquitin ligase Ariadne-1 (Ari-1) that affect the localization and distribution of LINC complex members in Drosophila . ari-1 mutants exhibit nuclear clustering and morphology defects in larval muscles. We show that Ari-1 mono-ubiquitinates the core LINC complex member Koi. Surprisingly, we discovered functional r...
Published on Apr 1, 2018in American Journal of Human Genetics 9.92
Dongchuan Guo32
Estimated H-index: 32
(University of Texas Health Science Center at Houston),
Ellen S. Regalado24
Estimated H-index: 24
(University of Texas Health Science Center at Houston)
+ 14 AuthorsStephanie Wallace3
Estimated H-index: 3
(University of Texas Health Science Center at Houston)
The major diseases affecting the thoracic aorta are aneurysms and acute dissections, and pathogenic variants in 11 genes are confirmed to lead to heritable thoracic aortic disease. However, many families in which multiple members have thoracic aortic disease do not have alterations in the known aortopathy genes. Genes highly expressed in the aorta were assessed for rare variants in exome sequencing data from such families, and compound rare heterozygous variants (p.Pro45Argfs ∗ 25 and p.Glu750 ∗...
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