TY  - JOUR
AU  - Kilsdonk, J.W.J. van
AU  - Kempen, L.C.L.T. van
AU  - Muijen, G.N.P. van
AU  - Ruiter, D.J.
AU  - Swart, G.W.
PY  - 2010
UR  - https://hdl.handle.net/2066/89187
AB  - Adhesion molecules endow tumor cells with the necessary cell-cell contacts and cell-matrix interactions. As such, adhesion molecules are involved in cell signalling, proliferation and tumor growth. Rearrangements in the adhesion repertoire allow tumor cells to migrate, invade and form metastases. Besides these membrane-bound adhesion molecules several soluble adhesion molecules are detected in the supernatant of tumor cell lines and patient body fluids. Truncated soluble adhesion molecules can be generated by several conventional mechanisms, including alternative splicing of mRNA transcripts, chromosomal translocation, and extracellular proteolytic ectodomain shedding. Secretion of vesicles (ectosomes and exosomes) is an alternative mechanism mediating the release of full-length adhesion molecules. Soluble adhesion molecules function as modulators of cell adhesion, induce proteolytic activity and facilitate cell signalling. Additionally, adhesion molecules present on secreted vesicles might be involved in the vesicle-target cell interaction. Based on currently available data, released soluble adhesion molecules contribute to cancer progression and therefore should not be regarded as unrelated and non-functional side products of tumor progression.
TI  - Soluble adhesion molecules in human cancers: sources and fates.
EP  - 427
SN  - 0171-9335
IS  - iss. 6
SP  - 415
JF  - European Journal of Cell Biology
VL  - vol. 89
N1  - 1 juni 2010
DO  - https://doi.org/10.1016/j.ejcb.2009.11.026
ER  - 
TY  - JOUR
AU  - Ritz, K.
AU  - Gerrits, M.C.
AU  - Foncke, E.M.
AU  - Ruissen, F. van
AU  - Linden, C. van der
AU  - Vergouwen, M.D.
AU  - Bloem, B.R.
AU  - Vandenberghe, W.
AU  - Crols, R.
AU  - Speelman, J.D.
AU  - Baas, F.
AU  - Tijssen, M.A.
PY  - 2009
UR  - https://hdl.handle.net/2066/80928
AB  - BACKGROUND: Myoclonus-dystonia (M-D) is an autosomal dominant inherited movement disorder. Various mutations within the epsilon-sarcoglycan (SGCE) gene have been associated with M-D, but mutations are detected in only about 30% of patients. The lack of stringent clinical inclusion criteria and limitations of mutation screens by direct sequencing might explain this observation. METHODS: Eighty-six M-D index patients from the Dutch national referral centre for M-D underwent neurological examination and were classified according to previously published criteria into definite, probable and possible M-D. Sequence analysis of the SGCE gene and screening for copy number variations were performed. In addition, screening was carried out for the 3 bp deletion in exon 5 of the DYT1 gene. RESULTS: Based on clinical examination, 24 definite, 23 probable and 39 possible M-D patients were detected. Thirteen of the 86 M-D index patients carried a SGCE mutation: seven nonsense mutations, two splice site mutations, three missense mutations (two within one patient) and one multiexonic deletion. In the definite M-D group, 50% carried an SGCE mutation and one single patient in the probable group (4%). One possible M-D patient showed a 4 bp deletion in the DYT1 gene (c.934_937delAGAG). CONCLUSIONS: Mutation carriers were mainly identified in the definite M-D group. However, in half of definite M-D cases, no mutation could be identified. Copy-number variations did not play a major role in the large cohort.
TI  - Myoclonus-dystonia: clinical and genetic evaluation of a large cohort.
EP  - 658
SN  - 0022-3050
IS  - iss. 6
SP  - 653
JF  - Journal of Neurology, Neurosurgery, and Psychiatry
VL  - vol. 80
DO  - https://doi.org/10.1136/jnnp.2008.162099
ER  - 
TY  - JOUR
AU  - Boone, B.
AU  - Blokx, W.A.M.
AU  - Bacquer, D. De
AU  - Lambert, J.
AU  - Ruiter, D.J.
AU  - Brochez, L.
PY  - 2008
UR  - https://hdl.handle.net/2066/70656
AB  - Sentinel lymph node status is the most important prognostic factor in primary melanoma. The number of melanoma-associated lymphatic vessels has been associated with sentinel lymph node status and survival. Vascular endothelial growth factor-C (VEGF-C) is found to promote tumour-associated lymphatic vessel growth. In many human neoplasms, VEGF-C expression in neoplastic cells or tumour-associated macrophages (TAMs) has been linked to lymphatic dissemination of tumour cells. Recent studies have suggested a correlation between VEGF-C expression in primary melanoma and the presence of lymph node metastasis. We performed VEGF-C immunohistochemical staining on melanoma tissues of 113 patients with known sentinel lymph node status. We showed that both high VEGF-C expression in melanoma cells and TAMs are positively associated with the presence of a positive sentinel lymph node. No correlation with Breslow thickness, Clark invasion level or ulceration could be detected. VEGF-C expression in melanoma cells was predictive of a shorter overall and disease-free survival, without being an independent predictor of survival. Our results confirm that VEGF-C expression in primary cutaneous melanoma plays a role in the lymphatic spread of the tumour.
TI  - The role of VEGF-C staining in predicting regional metastasis in melanoma.
EP  - 265
SN  - 0945-6317
IS  - iss. 3
SP  - 257
JF  - Virchows Archiv
VL  - vol. 453
DO  - https://doi.org/10.1007/s00428-008-0641-6
ER  -