The DOI matches its Crossref record; 73 of the 73 references it cites were found in a registry or an index.
Genetics of lymphatic anomalies
Open accessAbstract
Lymphatic anomalies include a variety of developmental and/or functional defects affecting the lymphatic vessels: sporadic and familial forms of primary lymphedema, secondary lymphedema, chylothorax and chylous ascites, lymphatic malformations, and overgrowth syndromes with a lymphatic component. Germline mutations have been identified in at least 20 genes that encode proteins acting around VEGFR-3 signaling but also downstream of other tyrosine kinase receptors. These mutations exert their effects via the RAS/MAPK and the PI3K/AKT pathways and explain more than a quarter of the incidence of primary lymphedema, mostly of inherited forms. More common forms may also result from multigenic effects or post-zygotic mutations. Most of the corresponding murine knockouts are homozygous lethal, while heterozygotes are healthy, which suggests differences in human and murine physiology and the influence of other factors.
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Cites
Fitzpatrick’s Dermatology in General Medicine
(1999) · Heart & Lung · doi:10.1016/s0147-9563(99)70018-x · Cited by 3,233
Karkkainen, M. J., Haiko, P., Sainio, K., Partanen, J., Taipale, J., Petrova, T. V., Jeltsch, M., Jackson, D. G., Talikka, M., Rauvala, H., et al. (2004) · Nature Immunology · doi:10.1038/ni1013 · Cited by 1,421
Cardiac Malformation in Neonatal Mice Lacking Connexin43
Reaume, A. G., de Sousa, P. A., Kulkarni, S., Langille, B. L., Zhu, D., Davies, T. C., Juneja, S. C., Kidder, G. M., & Rossant, J. (1995) · Science · doi:10.1126/science.7892609 · Cited by 1,244
A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome
Lindhurst, M. J., Sapp, J. C., Teer, J. K., Johnston, J. J., Finn, E. M., Peters, K., Turner, J., Cannons, J. L., Bick, D., Blakemore, L., et al. (2011) · New England Journal of Medicine · doi:10.1056/nejmoa1104017 · Cited by 903
Cardiovascular Failure in Mouse Embryos Deficient in VEGF Receptor-3
Dumont, D. J., Jussila, L., Taipale, J., Lymboussaki, A., Mustonen, T., Pajusola, K., Breitman, M., & Alitalo, K. (1998) · Science · doi:10.1126/science.282.5390.946 · Cited by 874
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling
Döffinger, R., Smahi, A., Bessia, C., Geissmann, F., Feinberg, J., Durandy, A., Bodemer, C., Kenwrick, S., Dupuis-Girod, S., Blanche, S., et al. (2001) · Nature Genetics · doi:10.1038/85837 · Cited by 828
Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti
The International Incontinentia Pigmenti (IP) Consortium (2000) · Nature · doi:10.1038/35013114 · Cited by 750
Germline KRAS mutations cause Noonan syndrome
Schubbert, S., Zenker, M., Rowe, S. L., Böll, S., Klein, C., Bollag, G., van der Burgt, I., Musante, L., Kalscheuer, V., Wehner, L.-E., et al. (2006) · Nature Genetics · doi:10.1038/ng1748 · Cited by 730
Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema
Karkkainen, M. J., Ferrell, R. E., Lawrence, E. C., Kimak, M. A., Levinson, K. L., McTigue, M. A., Alitalo, K., & Finegold, D. N. (2000) · Nature Genetics · doi:10.1038/75997 · Cited by 650
Fang, J., Dagenais, S. L., Erickson, R. P., Arlt, M. F., Glynn, M. W., Gorski, J. L., Seaver, L. H., & Glover, T. W. (2000) · The American Journal of Human Genetics · doi:10.1086/316915 · Cited by 611
Cited by
Vascular heterogeneity and specialization in development and disease
Potente, M., & Mäkinen, T. (2017) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm.2017.36 · Cited by 653
Lymphatic Vessel Network Structure and Physiology
Breslin, J. W., Yang, Y., Scallan, J. P., Sweat, R. S., Adderley, S. P., & Murfee, W. L. (2018) · Comprehensive Physiology · doi:10.1002/cphy.c180015 · Cited by 341
S1PR1 on tumor-associated macrophages promotes lymphangiogenesis and metastasis via NLRP3/IL-1β
Weichand, B., Popp, R., Dziumbla, S., Mora, J., Strack, E., Elwakeel, E., Frank, A.-C., Scholich, K., Pierre, S., Syed, S. N., et al. (2017) · Journal of Experimental Medicine · doi:10.1084/jem.20160392 · Cited by 267
The vicious circle of stasis, inflammation, and fibrosis in lymphedema
Brown, S., Dayan, J. H., Kataru, R. P., & Mehrara, B. J. (2023) · Plastic & Reconstructive Surgery · doi:10.1097/prs.0000000000009866 · Cited by 93
Characterization of ANGPT2 mutations associated with primary lymphedema
Leppänen, V.-M., Brouillard, P., Korhonen, E. A., Sipilä, T., Jha, S. K., Revencu, N., Labarque, V., Fastré, E., Schlögel, M., Ravoet, M., et al. (2020) · Science Translational Medicine · doi:10.1126/scitranslmed.aax8013 · Cited by 49
Self-citation
Metadata
- Authors
- Brouillard, P., Boon, L., & Vikkula, M.
- Venue
- Journal of Clinical Investigation
- Published
- 2014-03-03
- Volume
- 124
- Issue
- 3
- Pages
- 898-904
- ISSN
- 0021-9738 (ISSN-L)
- OpenAlex
- W2157204277
- Cited by
- 355
- References
- 73
- FWCI
- 11.49
- Type
- journal article
- Language
- en
- Open access
- bronze
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