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Callie S. Kwartler
University of Texas Health Science Center at Houston
PathologyACTA2Vascular smooth muscleAortaBiology
23Publications
13H-index
712Citations
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Publications 23
Newest
#1Keri A. Drake (UTSW: University of Texas Southwestern Medical Center)H-Index: 4
#2Christopher P. Chaney (UTSW: University of Texas Southwestern Medical Center)H-Index: 2
Last. Thomas J. Carroll (UTSW: University of Texas Southwestern Medical Center)H-Index: 35
view all 7 authors...
Wilms tumor (WT) morphologically resembles the embryonic kidney, consisting of blastema, epithelial, and stromal components, suggesting tumors arise from the dysregulation of normal development. Beta-catenin activation is observed in a significant proportion of WTs; however, much remains to be understood about how it contributes to tumorigenesis. While activating beta-catenin mutations are observed in both blastema and stromal components of WT, current models assume that activation in the blaste...
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#1Isabella V. Ciuffetelli Alamo (University of Texas Health Science Center at Houston)
#2Callie S. Kwartler (University of Texas Health Science Center at Houston)H-Index: 13
Last. Dianna M. Milewicz (University of Texas Health Science Center at Houston)H-Index: 62
view all 8 authors...
Grange syndrome (OMIM 602531) is an autosomal recessive condition characterized by severe early onset vascular occlusive disease and variable penetrance of brachydactyly, syndactyly, bone fragility, and learning disabilities. Grange syndrome is caused by homozygous or compound heterozygous loss-of-function variants in the YYA1P1 gene. We report on the case of a 53-year old female with novel homozygous missense variants in YYA1P1 (c.1079C>T, p.Pro360Leu), presenting with a history of brachysyndac...
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#1Zhen Zhou (WHU: Wuhan University)H-Index: 1
#2Andrew M. Peters (University of Texas Health Science Center at Houston)H-Index: 4
Last. Dianna M. Milewicz (University of Texas Health Science Center at Houston)H-Index: 62
view all 9 authors...
Objective— Pharmacological inhibition of the AT1R (angiotensin II type 1 receptor) with losartan can attenuate ascending aortic remodeling induced by transverse aortic constriction (TAC). In this s...
3 CitationsSource
#1Callie S. Kwartler (University of Texas Health Science Center at Houston)H-Index: 13
#2Limin Gong (University of Texas Health Science Center at Houston)H-Index: 23
Last. Dianna M. Milewicz (University of Texas Health Science Center at Houston)H-Index: 62
view all 12 authors...
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 ...
7 CitationsSource
#1Kai Li Tan (BCM: Baylor College of Medicine)H-Index: 6
#2Nele A. Haelterman (BCM: Baylor College of Medicine)H-Index: 8
Last. Hugo J. BellenH-Index: 91
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...
21 CitationsSource
#1Jiyuan Chen (University of Texas Health Science Center at Houston)H-Index: 5
#2Andrew M. Peters (University of Texas Health Science Center at Houston)H-Index: 4
Last. Dianna M. Milewicz (University of Texas Health Science Center at Houston)H-Index: 62
view all 20 authors...
Rationale: Mutations in ACTA2 , encoding the smooth muscle isoform of α-actin, cause thoracic aortic aneurysms, acute aortic dissections, and occlusive vascular diseases. Objective: We sought to identify the mechanism by which loss of smooth muscle α-actin causes aortic disease. Methods and Results: Acta2 −/− mice have an increased number of elastic lamellae in the ascending aorta and progressive aortic root dilation as assessed by echocardiography that can be attenuated by treatment with losart...
19 CitationsSource
#1Jiyuan Chen (University of Texas Health Science Center at Houston)H-Index: 5
#2Andrew M. Peters (University of Texas Health Science Center at Houston)H-Index: 4
Last. Dianna M. Milewicz (University of Texas Health Science Center at Houston)H-Index: 62
view all 20 authors...
Rationale: Mutations in ACTA2, encoding the smooth muscle isoform of α-actin (SM α-actin), cause thoracic aortic aneurysms, acute aortic dissections, and occlusive vascular diseases. Objective: We sought to identify the mechanism by which loss of SM α-actin causes aortic disease. Methods and Results: Acta2 -/- mice have an increased number of elastic lamellae in the ascending aorta and progressive aortic root dilation as assessed by echocardiography that can be attenuated by treatment with losar...
13 CitationsSource
#1Dongchuan Guo (University of Texas Health Science Center at Houston)H-Index: 35
#2Xue Yan Duan (University of Texas Health Science Center at Houston)H-Index: 3
Last. Dianna M. Milewicz (University of Texas Health Science Center at Houston)H-Index: 62
view all 20 authors...
Fibromuscular dysplasia (FMD) is a heterogeneous group of non-atherosclerotic and non-inflammatory arterial diseases that primarily involves the renal and cerebrovascular arteries. Grange syndrome is an autosomal-recessive condition characterized by severe and early-onset vascular disease similar to FMD and variable penetrance of brachydactyly, syndactyly, bone fragility, and learning disabilities. Exome-sequencing analysis of DNA from three affected siblings with Grange syndrome identified comp...
17 CitationsSource
#1Shao Qing Kuang (University of Texas Health Science Center at Houston)H-Index: 7
Last. Dianna M. Milewicz (University of Texas Health Science Center at Houston)H-Index: 62
view all 23 authors...
The ascending thoracic aorta is designed to withstand biomechanical forces from pulsatile blood. Thoracic aortic aneurysms and acute aortic dissections (TAADs) occur as a result of genetically triggered defects in aortic structure and a dysfunctional response to these forces. Here, we describe mutations in the forkhead transcription factor FOXE3 that predispose mutation-bearing individuals to TAAD. We performed exome sequencing of a large family with multiple members with TAADs and identified a ...
40 CitationsSource
#1Callie S. KwartlerH-Index: 13
#2Ping ZhouH-Index: 1
Last. Dianna M. MilewiczH-Index: 62
view all 6 authors...
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