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Ellen S. Regalado
University of Texas Health Science Center at Houston
75Publications
24H-index
2,227Citations
Publications 75
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 in Journal of Vascular Surgery 3.24
Sherene Shalhub13
Estimated H-index: 13
(UW: University of Washington),
Peter H. Byers69
Estimated H-index: 69
(UW: University of Washington)
+ -3 AuthorsKatie E. Shean7
Estimated H-index: 7
(BIDMC: Beth Israel Deaconess Medical Center)
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...
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 May 1, 2019in Journal of Vascular Surgery 3.24
Sherene Shalhub13
Estimated H-index: 13
(UW: University of Washington),
Peter H. Byers69
Estimated H-index: 69
(UW: University of Washington)
+ 21 AuthorsK. Nicole Weaver6
Estimated H-index: 6
(Cincinnati Children's Hospital Medical Center)
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...
Published on Apr 1, 2019in Journal of Medical Genetics 5.90
Ellen M. Hostetler6
Estimated H-index: 6
(University of Texas Health Science Center at San Antonio),
Ellen S. Regalado24
Estimated H-index: 24
(University of Texas Health Science Center at San Antonio)
+ 14 AuthorsStephanie Wallace3
Estimated H-index: 3
(University of Texas Health Science Center at San Antonio)
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 ...
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 Oct 1, 2018in Genetics in Medicine 8.68
Ellen S. Regalado24
Estimated H-index: 24
(University of Texas Health Science Center at Houston),
Lauren Mellor-Crummey3
Estimated H-index: 3
(University of Texas Health Science Center at Houston)
+ 26 AuthorsAnne H. Child32
Estimated H-index: 32
(St George's, University of London)
Smooth muscle dysfunction syndrome (SMDS) due to heterozygous ACTA2 arginine 179 alterations is characterized by patent ductus arteriosus, vasculopathy (aneurysm and occlusive lesions), pulmonary arterial hypertension, and other complications in smooth muscle–dependent organs. We sought to define the clinical history of SMDS to develop recommendations for evaluation and management. Medical records of 33 patients with SMDS (median age 12 years) were abstracted and analyzed. All patients had conge...
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 ∗...
Published on Nov 1, 2017in Journal of the American College of Cardiology 18.64
Dongchuan Guo32
Estimated H-index: 32
,
Ellen M. Hostetler6
Estimated H-index: 6
+ 7 AuthorsDianna M. Milewicz56
Estimated H-index: 56
An acute aortic dissection is a life-threatening cardiovascular condition that is preventable if individuals at risk are identified. Pathogenic variants in 11 genes confer a highly penetrant, dominantly inherited risk for aortic aneurysms and dissections with or without syndromic features (e.g.,
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