Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F22%3A10445336" target="_blank" >RIV/00216208:11130/22:10445336 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/22:10445336
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=7iC74Ku~nx" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=7iC74Ku~nx</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1002/humu.24433" target="_blank" >10.1002/humu.24433</a>
Alternative languages
Result language
angličtina
Original language name
Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants
Original language description
Pathogenic variants in JAG1 are known to cause Alagille syndrome (ALGS), a disorder that primarily affects the liver, lung, kidney, and skeleton. Whereas cardiac symptoms are also frequently observed in ALGS, thoracic aortic aneurysms have only been reported sporadically in postmortem autopsies. We here report two families with segregating JAG1 variants that present with isolated aneurysmal disease, as well as the first histological evaluation of aortic aneurysm tissue of a JAG1 variant carrier. Our observations shed more light on the pathomechanisms behind aneurysm formation in JAG1 variant harboring individuals and underline the importance of cardiovascular imaging in the clinical follow-up of such individuals.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
30101 - Human genetics
Result continuities
Project
<a href="/en/project/NV18-02-00237" target="_blank" >NV18-02-00237: Detection of sudden cardiac death causes in people aged 0-35 years using molecular genetic methods – a pilot study</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2022
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Human Mutation
ISSN
1059-7794
e-ISSN
1098-1004
Volume of the periodical
43
Issue of the periodical within the volume
12
Country of publishing house
US - UNITED STATES
Number of pages
5
Pages from-to
1824-1828
UT code for WoS article
000826114200001
EID of the result in the Scopus database
2-s2.0-85134173013