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Article ; Online: Extending the spectrum in aortopathy: stenosis to aneurysm.

Luperchio, Teresa Romeo / Kozel, Beth A

Current opinion in genetics & development

2022 Volume 76, Page(s) 101962

Abstract: The size of the aorta varies in the healthy population and is influenced by a series of mostly common and lower-impact genomic variants. Rare, high-impact variants driving Mendelian diseases of stenosis and aneurysm extend the limits of aortic size out ... ...

Abstract	The size of the aorta varies in the healthy population and is influenced by a series of mostly common and lower-impact genomic variants. Rare, high-impact variants driving Mendelian diseases of stenosis and aneurysm extend the limits of aortic size out of the typical range. Pathology at both ends of the spectrum is governed by overlapping pathways and processes, such as those affecting structure, integrity, and function of the aorta. As such, aortopathies across the full spectrum from stenosis to aneurysm are likely modified by a similar constellation of common and rarer genetic variants in a directional, weighted, and context-dependent manner. Here, we discuss the role of modifiers in aortic disease by presenting an example of two opposing rare diseases and highlight the need to consider the influence of background genome variation when considering disease outcomes.
MeSH term(s)	Aneurysm/pathology ; Aortic Valve/pathology ; Bicuspid Aortic Valve Disease ; Constriction, Pathologic/pathology ; Heart Valve Diseases/pathology ; Humans
Language	English
Publishing date	2022-07-30
Publishing country	England
Document type	Journal Article ; Review ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural
ZDB-ID	1077312-5
ISSN	1879-0380 ; 0959-437X
ISSN (online)	1879-0380
ISSN	0959-437X
DOI	10.1016/j.gde.2022.101962
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Article ; Online: Emerging mechanisms of elastin transcriptional regulation.

Procknow, Sara S / Kozel, Beth A

American journal of physiology. Cell physiology

2022 Volume 323, Issue 3, Page(s) C666–C677

Abstract: Elastin provides recoil to tissues that stretch such as the lung, blood vessels, and skin. It is deposited in a brief window starting in the prenatal period and extending to adolescence in vertebrates, and then slowly turns over. Elastin insufficiency is ...

Abstract	Elastin provides recoil to tissues that stretch such as the lung, blood vessels, and skin. It is deposited in a brief window starting in the prenatal period and extending to adolescence in vertebrates, and then slowly turns over. Elastin insufficiency is seen in conditions such as Williams-Beuren syndrome and elastin-related supravalvar aortic stenosis, which are associated with a range of vascular and connective tissue manifestations. Regulation of the elastin (
MeSH term(s)	Animals ; Aortic Stenosis, Supravalvular/genetics ; Elastin/genetics ; Elastin/metabolism ; Gene Expression Regulation ; Humans ; MicroRNAs/genetics ; MicroRNAs/metabolism ; Williams Syndrome/genetics
Chemical Substances	MicroRNAs ; Elastin (9007-58-3)
Language	English
Publishing date	2022-07-11
Publishing country	United States
Document type	Journal Article ; Review ; Research Support, N.I.H., Extramural
ZDB-ID	392098-7
ISSN	1522-1563 ; 0363-6143
ISSN (online)	1522-1563
ISSN	0363-6143
DOI	10.1152/ajpcell.00228.2022
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Article ; Online: Vascular elastic fiber heterogeneity in health and disease.

Halabi, Carmen M / Kozel, Beth A

Current opinion in hematology

2020 Volume 27, Issue 3, Page(s) 190–196

Abstract: Purpose of review: Elastin has historically been described as an amorphous protein that functions to provide recoil to tissues that stretch. However, evidence is growing that elastin's role may not be limited to biomechanics. In this minireview, we will ...

Abstract	Purpose of review: Elastin has historically been described as an amorphous protein that functions to provide recoil to tissues that stretch. However, evidence is growing that elastin's role may not be limited to biomechanics. In this minireview, we will summarize current knowledge regarding vascular elastic fibers, focusing on structural differences along the arterial tree and how those differences may influence the behavior of affiliated cells. Recent findings: Regional heterogeneity, including differences in elastic lamellar number, density and cell developmental origin, plays an important role in vessel health and function. These differences impact cell-cell communication, proliferation and movement. Perturbations of normal cell-matrix interactions are correlated with human diseases including aneurysm, atherosclerosis and hypertension. Summary: Although classically described as a structural protein, recent data suggest that differences in elastin deposition along the arterial tree have important effects on heterotypic cell interactions and human disease.
MeSH term(s)	Animals ; Arteries/metabolism ; Arteries/pathology ; Arteries/physiopathology ; Elastic Tissue/metabolism ; Elastic Tissue/pathology ; Elastic Tissue/physiopathology ; Elastin/metabolism ; Humans ; Vascular Diseases/metabolism ; Vascular Diseases/pathology ; Vascular Diseases/physiopathology
Chemical Substances	Elastin (9007-58-3)
Language	English
Publishing date	2020-03-06
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural ; Review
ZDB-ID	1153887-9
ISSN	1531-7048 ; 1065-6251
ISSN (online)	1531-7048
ISSN	1065-6251
DOI	10.1097/MOH.0000000000000578
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Zs.A 3703: Show issues

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Article ; Online: Elastic fiber ultrastructure and assembly.

Kozel, Beth A / Mecham, Robert P

Matrix biology : journal of the International Society for Matrix Biology

2019 Volume 84, Page(s) 31–40

Abstract: Studies over the years have described a filamentous structure to mature elastin that suggests a complicated packing arrangement of tropoelastin subunits. The currently accepted mechanism for tropoelastin assembly requires microfibrils to serve as a ... ...

Abstract	Studies over the years have described a filamentous structure to mature elastin that suggests a complicated packing arrangement of tropoelastin subunits. The currently accepted mechanism for tropoelastin assembly requires microfibrils to serve as a physical extracellular scaffold for alignment of tropoelastin monomers during and before crosslinking. However, recent evidence suggests that the initial stages of tropoelastin assembly occur within the cell or at unique assembly sites on the plasma membrane where tropoelastin self assembles to form elastin aggregates. Outside the cell, elastin aggregates transfer to growing elastic fibers in the extracellular matrix where tensional forces on microfibrils generated through cell movement help shape the growing fiber. Overall, these observations challenge the widely held idea that interaction between monomeric tropoelastin and microfibrils is a requirement for elastin assembly, and point to self-assembly of tropoelastin as a driving force in elastin maturation.
MeSH term(s)	Animals ; Cell Movement ; Elastin/metabolism ; Elastin/ultrastructure ; Extracellular Matrix/metabolism ; Humans ; Protein Multimerization ; Tropoelastin/chemistry ; Tropoelastin/metabolism
Chemical Substances	Tropoelastin ; Elastin (9007-58-3)
Language	English
Publishing date	2019-10-24
Publishing country	Netherlands
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	1183793-7
ISSN	1569-1802 ; 0945-053X
ISSN (online)	1569-1802
ISSN	0945-053X
DOI	10.1016/j.matbio.2019.10.002
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Article ; Online: Genetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome.

Stephens, Sara B / Novy, Tyler / Spurzem, Gabrielle N / Jacob, Benjamin / Beecroft, Taylor / Soludczyk, Emily / Kozel, Beth A / Weigand, Justin / Morris, Shaine A

Journal of the American Heart Association

2024 Volume 13, Issue 8, Page(s) e034048

Abstract: Background: We aimed to describe the frequency and yield of genetic testing in supravalvar aortic stenosis (SVAS) following negative evaluation for Williams-Beuren syndrome (WS).: Methods and results: This retrospective cohort study included patients ...

Abstract	Background: We aimed to describe the frequency and yield of genetic testing in supravalvar aortic stenosis (SVAS) following negative evaluation for Williams-Beuren syndrome (WS). Methods and results: This retrospective cohort study included patients with SVAS at our institution who had a negative evaluation for WS from May 1991 to September 2021. SVAS was defined as (1) peak supravalvar velocity of ≥2 meters/second, (2) sinotubular junction or ascending aortic Conclusions: When WS is excluded, gene sequencing for SVAS is high yield, with the highest yield for the
MeSH term(s)	Humans ; Williams Syndrome/diagnosis ; Williams Syndrome/genetics ; Williams Syndrome/surgery ; Aortic Stenosis, Supravalvular/diagnosis ; Aortic Stenosis, Supravalvular/genetics ; Aortic Stenosis, Supravalvular/congenital ; Retrospective Studies ; Genetic Testing ; Aorta
Language	English
Publishing date	2024-04-09
Publishing country	England
Document type	Journal Article
ZDB-ID	2653953-6
ISSN	2047-9980 ; 2047-9980
ISSN (online)	2047-9980
ISSN	2047-9980
DOI	10.1161/JAHA.123.034048
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Article: Evaluating ChatGPT as an Agent for Providing Genetic Education.

Walton, Nephi / Gracefo, Sara / Sutherland, Nykole / Kozel, Beth A / Danford, Christopher J / McGrath, Scott P

bioRxiv : the preprint server for biology

2023

Abstract: Genetic disorders are complex and can greatly impact an individual's health and well-being. In this study, we assess the ability of ChatGPT, a language model developed by OpenAI, to answer questions related to three specific genetic disorders: BRCA1, ... ...

Abstract	Genetic disorders are complex and can greatly impact an individual's health and well-being. In this study, we assess the ability of ChatGPT, a language model developed by OpenAI, to answer questions related to three specific genetic disorders: BRCA1, MLH1, and HFE. ChatGPT has shown it can supply articulate answers to a wide spectrum of questions. However, its ability to answer questions related to genetic disorders has yet to be evaluated. The aim of this study is to perform both quantitative and qualitative assessments of ChatGPT's performance in this area. The ability of ChatGPT to provide accurate and useful information to patients was assessed by genetic experts. Here we show that ChatGPT answered 64.7% of the 68 genetic questions asked and was able to respond coherently to complex questions related to the three genes/conditions. Our results reveal that ChatGPT can provide valuable information to individuals seeking information about genetic disorders, however, it still has some limitations and inaccuracies, particularly in understanding human inheritance patterns. The results of this study have implications for both genomics and medicine and can inform future developments in this area. AI platforms, like ChatGPT, have significant potential in the field of genomics. As these technologies become integrated into consumer-facing products, appropriate oversight is required to ensure accurate and safe delivery of medical information. With such oversight and training specifically for genetic information, these platforms could have the potential to augment some clinical interactions.
Language	English
Publishing date	2023-10-29
Publishing country	United States
Document type	Preprint
DOI	10.1101/2023.10.25.564074
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Article ; Online: Loss of Baz1b in mice causes perinatal lethality, growth failure, and variable multi-system outcomes.

Pai, Christopher / McIntosh, Basil A / Knutsen, Russell H / Levin, Mark D / Tsang, Kit Man / Kozel, Beth A / Heuckeroth, Robert O

Developmental biology

2023 Volume 505, Page(s) 42–57

Abstract: BAZ1B is one of 25-27 coding genes deleted in canonical Williams syndrome, a multi-system disorder causing slow growth, vascular stenosis, and gastrointestinal complaints, including constipation. BAZ1B is involved in (among other processes) chromatin ... ...

Abstract	BAZ1B is one of 25-27 coding genes deleted in canonical Williams syndrome, a multi-system disorder causing slow growth, vascular stenosis, and gastrointestinal complaints, including constipation. BAZ1B is involved in (among other processes) chromatin organization, DNA damage repair, and mitosis, suggesting reduced BAZ1B may contribute to Williams syndrome symptoms. In mice, loss of Baz1b causes early neonatal death. 89.6% of Baz1b
MeSH term(s)	Animals ; Mice ; Colon ; DNA Repair ; Ductus Arteriosus, Patent ; Neurons ; Williams Syndrome/genetics
Chemical Substances	Baz1b protein, mouse
Language	English
Publishing date	2023-10-11
Publishing country	United States
Document type	Journal Article
ZDB-ID	1114-9
ISSN	1095-564X ; 0012-1606
ISSN (online)	1095-564X
ISSN	0012-1606
DOI	10.1016/j.ydbio.2023.09.007
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Article: Loss of Angiotensin II Type 2 Receptor Improves Blood Pressure in Elastin Insufficiency.

Lin, Michelle / Roth, Robyn A / Kozel, Beth A / Mecham, Robert P / Halabi, Carmen M

Frontiers in cardiovascular medicine

2021 Volume 8, Page(s) 782138

Abstract: There is ample evidence supporting a role for angiotensin II type 2 receptor ( ... ...

Abstract	There is ample evidence supporting a role for angiotensin II type 2 receptor (AT
Language	English
Publishing date	2021-11-01
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2781496-8
ISSN	2297-055X
ISSN	2297-055X
DOI	10.3389/fcvm.2021.782138
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Article ; Online: Elastin-driven genetic diseases.

Duque Lasio, Maria Laura / Kozel, Beth A

Matrix biology : journal of the International Society for Matrix Biology

2018 Volume 71-72, Page(s) 144–160

Abstract: Elastic fibers provide recoil to tissues that undergo repeated deformation, such as blood vessels, lungs and skin. Composed of elastin and its accessory proteins, the fibers are produced within a restricted developmental window and are stable for decades. ...

Abstract	Elastic fibers provide recoil to tissues that undergo repeated deformation, such as blood vessels, lungs and skin. Composed of elastin and its accessory proteins, the fibers are produced within a restricted developmental window and are stable for decades. Their eventual breakdown is associated with a loss of tissue resiliency and aging. Rare alteration of the elastin (ELN) gene produces disease by impacting protein dosage (supravalvar aortic stenosis, Williams Beuren syndrome and Williams Beuren region duplication syndrome) and protein function (autosomal dominant cutis laxa). This review highlights aspects of the elastin molecule and its assembly process that contribute to human disease and also discusses potential therapies aimed at treating diseases of elastin insufficiency.
MeSH term(s)	Aortic Stenosis, Supravalvular/genetics ; Cutis Laxa/genetics ; Elastin/genetics ; Elastin/metabolism ; Gene Dosage ; Genetic Predisposition to Disease ; Humans ; Mutation ; Williams Syndrome/genetics
Chemical Substances	Elastin (9007-58-3)
Language	English
Publishing date	2018-02-28
Publishing country	Netherlands
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Review
ZDB-ID	1183793-7
ISSN	1569-1802 ; 0945-053X
ISSN (online)	1569-1802
ISSN	0945-053X
DOI	10.1016/j.matbio.2018.02.021
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Article ; Online: Variegation of autism related traits across seven neurogenetic disorders.

Lee, Nancy Raitano / Niu, Xin / Zhang, Fengqing / Clasen, Liv S / Kozel, Beth A / Smith, Ann C M / Wallace, Gregory L / Raznahan, Armin

Translational psychiatry

2022 Volume 12, Issue 1, Page(s) 149

Abstract: Gene dosage disorders (GDDs) constitute a major class of genetic risks for psychopathology, but there is considerable debate regarding the extent to which different GDDs induce different psychopathology profiles. The current research speaks to this ... ...

Abstract	Gene dosage disorders (GDDs) constitute a major class of genetic risks for psychopathology, but there is considerable debate regarding the extent to which different GDDs induce different psychopathology profiles. The current research speaks to this debate by compiling and analyzing dimensional measures of several autism-related traits (ARTs) across seven diverse GDDs. The sample included 350 individuals with one of 7 GDDs, as well as reference idiopathic autism spectrum disorder (ASD; n = 74) and typically developing control (TD; n = 171) groups. The GDDs were: Down, Williams-Beuren, and Smith-Magenis (DS, WS, SMS) syndromes, and varying sex chromosome aneuploidies ("plusX", "plusXX", "plusY", "plusXY"). The Social Responsiveness Scale (SRS-2) was used to measure ARTs at different levels of granularity-item, subscale, and total. General linear models were used to examine ART profiles in GDDs, and machine learning was used to predict genotype from SRS-2 subscales and items. These analyses were completed with and without covariation for cognitive impairment. Twelve of all possible 21 pairwise GDD group contrasts showed significantly different ART profiles (7/21 when co-varying for IQ, all Bonferroni-corrected). Prominent GDD-ART associations in post hoc analyses included relatively preserved social motivation in WS and relatively low levels of repetitive behaviors in plusX. Machine learning revealed that GDD group could be predicted with plausible accuracy (~60-80%) even after controlling for IQ. GDD effects on ARTs are influenced by GDD subtype and ART dimension. This observation has consequences for mechanistic, clinical, and translational aspects of psychiatric neurogenetics.
MeSH term(s)	Autism Spectrum Disorder/genetics ; Autism Spectrum Disorder/psychology ; Autistic Disorder ; Humans
Language	English
Publishing date	2022-04-07
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural
ZDB-ID	2609311-X
ISSN	2158-3188 ; 2158-3188
ISSN (online)	2158-3188
ISSN	2158-3188
DOI	10.1038/s41398-022-01895-0
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