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Ellen S. Regalado
University of Texas Health Science Center at Houston
78Publications
24H-index
2,228Citations
Publications 78
Newest
#1Sherene Shalhub (UW: University of Washington)H-Index: 13
#2Peter H. Byers (UW: University of Washington)H-Index: 69
Last.K. Nicole Weaver (Cincinnati Children's Hospital Medical Center)H-Index: 6
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...
#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...
#1Sherene Shalhub (UW: University of Washington)H-Index: 13
#2Peter H. Byers (UW: University of Washington)H-Index: 69
Last.Katie E. Shean (BIDMC: Beth Israel Deaconess Medical Center)H-Index: 7
view all 0 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...
#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...
#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: 24
Last.Stephanie Wallace (University of Texas Health Science Center at San Antonio)H-Index: 3
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 ...
#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...
#1Ellen S. Regalado (University of Texas Health Science Center at Houston)H-Index: 24
#2Lauren Mellor-Crummey (University of Texas Health Science Center at Houston)H-Index: 3
Last.Anne H. Child (St George's, University of London)H-Index: 32
view all 29 authors...
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...
#1Kai Li Tan (BCM: Baylor College of Medicine)H-Index: 5
#2Nele A. Haelterman (BCM: Baylor College of Medicine)H-Index: 8
Last.Michael J. Bamshad (UW: University of Washington)H-Index: 50
view all 14 authors...
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...
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