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@article{2248111,
author = {Hankeová, Simona and Noemi, Van Hul and Laznovsky, Jakub and Verboven, Elisabeth and Mangold, Katrin and Hensens, Naomi and Adori, Csaba and Verhoef, Elvira and Zikmund, Tomas and Dawit, Feven and Kavkova, Michaela and Salplachta, Jakub and Sjöqvist, Marika and Johansson, Bengt R and Hassan, Mohamed G and Fredriksson, Linda and Baumgärtel, Karsten and Bryja, Vítězslav and Lendahl, Urban and Jheon, Andrew and Alten, Florian and Fahnehjelm, Kristina Teär and Fischler, Björn and Kaiser, Jozef and Andersson, Emma R},
article_number = {12},
doi = {http://dx.doi.org/10.15252/emmm.202215809},
keywords = {Alagille syndrome; Bleeding; Jagged1; Notch; Vasculature},
language = {eng},
issn = {1757-4676},
journal = {EMBO Molecular Medicine},
title = {Sex differences and risk factors for bleeding in Alagille syndrome},
url = {https://www.embopress.org/doi/full/10.15252/emmm.202215809},
volume = {14},
year = {2022}
}
TY - JOUR
ID - 2248111
AU - Hankeová, Simona - Noemi, Van Hul - Laznovsky, Jakub - Verboven, Elisabeth - Mangold, Katrin - Hensens, Naomi - Adori, Csaba - Verhoef, Elvira - Zikmund, Tomas - Dawit, Feven - Kavkova, Michaela - Salplachta, Jakub - Sjöqvist, Marika - Johansson, Bengt R - Hassan, Mohamed G - Fredriksson, Linda - Baumgärtel, Karsten - Bryja, Vítězslav - Lendahl, Urban - Jheon, Andrew - Alten, Florian - Fahnehjelm, Kristina Teär - Fischler, Björn - Kaiser, Jozef - Andersson, Emma R
PY - 2022
TI - Sex differences and risk factors for bleeding in Alagille syndrome
JF - EMBO Molecular Medicine
VL - 14
IS - 12
SP - 1-23
EP - 1-23
PB - Wiley
SN - 17574676
KW - Alagille syndrome
KW - Bleeding
KW - Jagged1
KW - Notch
KW - Vasculature
UR - https://www.embopress.org/doi/full/10.15252/emmm.202215809
N2 - Spontaneous bleeds are a leading cause of death in the pediatric JAG1-related liver disease Alagille syndrome (ALGS). We asked whether there are sex differences in bleeding events in patients, whether Jag1(Ndr/Ndr) mice display bleeds or vascular defects, and whether discovered vascular pathology can be confirmed in patients non-invasively. We performed a systematic review of patients with ALGS and vascular events following PRISMA guidelines, in the context of patient sex, and found significantly more girls than boys reported with spontaneous intracranial hemorrhage. We investigated vascular development, homeostasis, and bleeding in Jag1(Ndr/Ndr) mice, using retina as a model. Jag1(Ndr/Ndr) mice displayed sporadic brain bleeds, a thin skull, tortuous blood vessels, sparse arterial smooth muscle cell coverage in multiple organs, which could be aggravated by hypertension, and sex-specific venous defects. Importantly, we demonstrated that retinographs from patients display similar characteristics with significantly increased vascular tortuosity. In conclusion, there are clinically important sex differences in vascular disease in ALGS, and retinography allows non-invasive vascular analysis in patients. Finally, Jag1(Ndr/Ndr) mice represent a new model for vascular compromise in ALGS.
ER -
HANKEOVÁ, Simona, Van Hul NOEMI, Jakub LAZNOVSKY, Elisabeth VERBOVEN, Katrin MANGOLD, Naomi HENSENS, Csaba ADORI, Elvira VERHOEF, Tomas ZIKMUND, Feven DAWIT, Michaela KAVKOVA, Jakub SALPLACHTA, Marika SJÖQVIST, Bengt R JOHANSSON, Mohamed G HASSAN, Linda FREDRIKSSON, Karsten BAUMGÄRTEL, Vítězslav BRYJA, Urban LENDAHL, Andrew JHEON, Florian ALTEN, Kristina Teär FAHNEHJELM, Björn FISCHLER, Jozef KAISER and Emma R ANDERSSON. Sex differences and risk factors for bleeding in Alagille syndrome. \textit{EMBO Molecular Medicine}. Wiley, 2022, vol.~14, No~12, p.~1-23. ISSN~1757-4676. Available from: https://dx.doi.org/10.15252/emmm.202215809.
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