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Ellen S. Regalado
University of Texas Health Science Center at Houston
DissectionAortic dissectionGeneticsMedicineBiology
74Publications
25H-index
2,364Citations
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Publications 75
Newest
#1Amélie Pinard (University of Texas Health Science Center at Houston)H-Index: 2
#2Stéphanie Guey (Paris Diderot University)H-Index: 5
Last. Dianna M. Milewicz (University of Texas Health Science Center at Houston)H-Index: 58
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...
1 CitationsSource
#1Sherene Shalhub (UW: University of Washington)H-Index: 13
#2Peter H. Byers (UW: University of Washington)H-Index: 70
Last. Karen Woo (UCLA: University of California, Los Angeles)H-Index: 10
view all 24 authors...
Abstract Objective Vascular Ehlers-Danlos syndrome (vEDS) is a rare disorder and 1 of 13 types of EDS. The syndrome results in aortic and arterial aneurysms and dissections at a young age. Diagnosis is confirmed with molecular testing via skin biopsy or genetic testing for COL3A1 pathogenic variants. We describe a multi-institutional experience in the diagnosis of vEDS from 2000 to 2015. Methods This is a multi-institutional cross-sectional retrospective study of individuals with vEDS. The insti...
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#1Erin DemoH-Index: 4
Last. Gretchen MacCarrick (Johns Hopkins University)H-Index: 3
view all 7 authors...
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#1Sherene Shalhub (UW: University of Washington)H-Index: 13
#2Peter H. Byers (UW: University of Washington)H-Index: 70
Last. Karen Woo (UCLA: University of California, Los Angeles)H-Index: 10
view all 24 authors...
Abstract Objective Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder owing to pathogenic variants in COL3A1 that lead to impaired type III collagen production. We aim to describe the contemporary multi-institutional experience of aortic and arterial pathology in individuals with vEDS, to evaluate disease patterns and refine management recommendations. Methods This cross-sectional, retrospective study of individuals with genetically confirmed vEDS was conducted between 2...
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Acute thoracic aortic dissections, a life-threatening complication of thoracic aortic aneurysms, can be prevented if at-risk individuals are identified. Up to 25% of individuals with thoracic aorti...
Acute thoracic aortic dissections, a life-threatening complication of thoracic aortic aneurysms, can be prevented if at-risk individuals are identified. Up to 25% of individuals with thoracic aorti...
#1Ellen M. Hostetler (University of Texas Health Science Center at San Antonio)H-Index: 6
#2Ellen S. Regalado (University of Texas Health Science Center at San Antonio)H-Index: 25
Last. Dianna M. Milewicz (University of Texas Health Science Center at San Antonio)H-Index: 58
view all 17 authors...
Background Pathogenic variants in SMAD3 cause thoracic aortic aneurysms and dissections, along with aneurysms and rupture of other arteries. Here, we examined differences in clinical presentation of aortic events (dissection or surgical repair of an aneurysm) with respect to age and variant type in an international cohort of individuals with SMAD3 variants. Methods Aortic status and events, vital status and clinical features were abstracted through retrospective review of medical records of 212 ...
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#1Sherene Shalhub (UW: University of Washington)H-Index: 13
#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 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...
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#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: 33
Last. Dianna M. Milewicz (University of Texas Health Science Center at Houston)H-Index: 58
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...
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#1Stephanie E. 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: 25
Last. Dianna M. Milewicz (University of Texas Health Science Center at Houston)H-Index: 58
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...
3 CitationsSource
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