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Sex differences and...
Sex differences and risk factors for bleeding in Alagille syndrome
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Hankeova, S. (author)
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- Van Hul, N. (author)
- Karolinska Institutet
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Laznovsky, J. (author)
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- Verboven, E. (author)
- Karolinska Institutet
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Mangold, K. (author)
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Hensens, N. (author)
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Adori, C. (author)
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Verhoef, E. (author)
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Zikmund, T. (author)
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Dawit, F. (author)
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Kavkova, M. (author)
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Salplachta, J. (author)
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Sjoqvist, M. (author)
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- Johansson, Bengt R, 1947 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin,Institute of Biomedicine
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Hassan, M. G. (author)
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- Fredriksson, L. (author)
- Karolinska Institutet
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Baumgartel, K. (author)
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Bryja, V. (author)
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Lendahl, U. (author)
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Jheon, A. (author)
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Alten, F. (author)
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- Fahnehjelm, K. T. (author)
- Karolinska Institutet
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- Fischler, B. (author)
- Karolinska Institutet
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Kaiser, J. (author)
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- Andersson, E. R. (author)
- Karolinska Institutet
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(creator_code:org_t)
- 2022-11-08
- 2022
- English.
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In: Embo Molecular Medicine. - : EMBO. - 1757-4676 .- 1757-4684. ; 14:12
- Related links:
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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Abstract
Subject headings
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Kardiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cardiac and Cardiovascular Systems (hsv//eng)
Keyword
- Alagille syndrome
- Bleeding
- Jagged1
- Notch
- Vasculature
- aneurysmal subarachnoid hemorrhage
- moyamoya-syndrome
- vascular
- abnormalities
- human jagged1
- children
- mutations
- notch3
- hypertension
- expression
- patient
- Research & Experimental Medicine
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
To the university's database
- By the author/editor
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Hankeova, S.
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Van Hul, N.
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Laznovsky, J.
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Verboven, E.
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Mangold, K.
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Hensens, N.
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show more...
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Adori, C.
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Verhoef, E.
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Zikmund, T.
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Dawit, F.
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Kavkova, M.
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Salplachta, J.
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Sjoqvist, M.
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Johansson, Bengt ...
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Hassan, M. G.
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Fredriksson, L.
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Baumgartel, K.
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Bryja, V.
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Lendahl, U.
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Jheon, A.
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Alten, F.
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Fahnehjelm, K. T ...
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Fischler, B.
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Kaiser, J.
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Andersson, E. R.
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cardiac and Card ...
- Articles in the publication
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Embo Molecular M ...
- By the university
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University of Gothenburg
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Karolinska Institutet