Laboratory of Human Molecular Genetics

Molecular Genetics of Vascular Malformation - Vikkula, M., Boon, L. and Mulliken, J.B. Invited Mini-Review for Matrix Biology (in press). Identification of eight novel 5'-exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1 - Eerola, I., McIntyre, B.A.S. and Vikkula, M. Biochimica et Biophysica Acta/Gene Structure and Expression 1517, (2001), 464-7. Linkage disequilibrium narrows locus for venous malformations with glomus cells (VMGLOM) to a single 1.48 Mbp YAC- Irrthum, A., Brouillard, P., Boon, L.M., Warman, M.L., Olsen, B.R., Mulliken, J.B., Enjolras, O. and Vikkula, M. Eur J Hum Genet 9(1), (2001), 34-8. Vascular Matrix and Disorders - Karttunen, L., Felbor, U.,Vikkula, M., Olsen, B.R. In: Hematopoiesis: A Developmental Approach. Editor: Leonard Zon, Oxford University press, New York, NY, (2001), pp. 784-79. High-resolution physical and transcript map of the locus for venous malformations with glomus cells (VMGLOM) on chromosome 1p21-p22 - Brouillard, P., Olsen, B.R. and Vikkula, M. Genomics 67(1), (2000), 96-101. Congenital hereditary lymphedema caused by a a mutation that inactivates VEGFR3 tyrosine kinase - Irrthum, A., Karkkainen, M.J., Devriendt, K., Alitalo, K. and Vikkula, M. Am J Hum Genet 67, (2000), 295-301. High frequency of autologous anti-melanoma CTL directed against an antigen generated by a point mutation in a new helicase gene - Barain, J.F., Colau, D., van Baren, N., Landry, C., Martelange, V., Vikkula, M., Boon, T. and Coulie, P. J Immunol 164 (2000), 6057-66. KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation - Eerola, I., Plate, K.H., Spiegel, R., Boon, L.M., Mulliken, J.B., Vikkula, M. Hum Mol Genet 9(9), (2000), 1351-5. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes - Annunen, S., Körkkö, J., Czarny, M., Warman, M.L., Brunner, H.G., Kääriäinen, H., Mulliken, J.B., Tranebjaerg, L., Brooks, D.G., Cox, G.F., Cruysberg, J.R., Curtis, M.A., Davenport, S.L.H., Friedrich, C.A., Kaitila, I., Krawczynski, M.R., Latos-Bielenska, A., Mukai, S., Olsen, B.R., Shinno, N., Somer, M., Vikkula, M., Zlotogora, J., Prockop, D.J., Ala-Kokko, L. Am J Hum Genet 65(4), (1999), 974-83. The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a - Veiga-da-Cunha, M., Gerin, I., Chen, Y.-T., Lee, P.J., Leonard, J.V., Maire, I., Wendel, U.,Vikkula, M., Van Schaftingen, E. Eur J Hum Genet 7(6), (1999), 717-23. A gene for inherited cutaneous venous anomalies "glomangiomas" localizes to chromosome 1p21-22 - Boon, L.M., Brouillard, P., Irrthum, A., Karttunen, L., Warman, M.L., Rudolph, R., Mulliken, J.B., Olsen, B.R. and Vikkula, M. Am J Hum Genet 65(1), (1999), 125-33. TIE-2 signaling and venous malformations - Karttunen, L., Vikkula, M., Boon, L.M. and Olsen, B.R. In: Angiogenesis in Health and Disease: Basic Mechanisms and Clinical Applications. Edited by Gabor M. Rubanyi, Marcel Dekker Inc. New York, NY, (1999), pp.89-96. Endothelial receptor tyrosine kinases activate the STAT signaling pathway: mutant TIE-2 causing venous malformations signals a distinct STAT activation response - Korpelainen, E.I., Kärkkäinen, M., Gunji, Y., Vikkula, M. and Alitalo, K. Oncogene 18(1), (1999), 1-8. Molecular Basis of Vascular Anomalies - Vikkula, M., Boon, L.M., Mulliken, J.B. and Olsen, B.R. Trends Cardiov Med 8(7), (1998), 281-92. (review) A gene on chromosome 11q23 coding for a putative glucose 6-phosphate translocase is mutated in glycogen storage disease type Ib and type Ic - Veiga-da-Cunha, M., Gerin, I., Chen, Y.-T., de Barsy, T., de Lonlay, P., Dianosi-Vici, C., Fenske, C.D., Lee, P.J., Leonard, J.V., Maire, I., McConkie-Rosell, A., Schweitzer, S., Vikkula, M. and Van Schaftingen, E. Am J Hum Genet 63, (1998), 976-83. The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3 - Juppner, H., Bastepe, M., Schipani, E., Cole., D.E.C., Lawson, M., Mannstadt, M., Hendy, G.N., Plotkin, H., Koshiyama, H., Koh, T., Crawford, J.D., Olsen, B.R.and Vikkula, M. Proc Natl Acad Sci 95(20), (1998), 11798-803. Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE-2 - Vikkula, M., Boon, L.M., Carraway III, K.L., Calvert, J.T., Diamonti, A.J., Goumnerov, B., Pasyk, K.A., Marchuk, D.A., Warman, M.L., Cantley, L.C., Mulliken, J.B. and Olsen, B.R. Cell 87, (1996), 1181-90. Unraveling the molecular genetics of osteoarthritis - Vikkula, M. and Olsen, B.R. Ann Med 28, (1996), 301-4. (review) The Osteoporosis-Pseudoglioma syndrome locus is on chromosome 11q12-13 - Gong, Y., Vikkula, M., Boon, L.M., Beighton, P., Ramesar, R., Peltonen, L., Somer, H., Hirose, T., Dallapiccola, B., de Paepe, A., Swoboda, W., Zabel, B., Superti-Furga, A., Brunner, H.G., Boles, R., Adkins, W., Opitz, J., Olsen , B.R. and Warman, M.L. Am J Hum Genet 59, (1996), 146-51. A gene for familial venous malformations maps to chromosome 9p in a second large kindred - Gallione, C.J., Pasyk, K.A., Boon, L.M., Lennon, F., Johnson, D.W., Helmbold, E.A., Markel, D.S., Vikkula, M., Mulliken, J.B., Warman, M.L., Pericak-Vance, M.A. and Marchuk, D.A. J Med Genet 32(3), (1995), 197-9. Identification of COL2A1 gene mutations in patients with chondrodysplasias and familial osteoarthritis - Ritvaniemi, P., Körkkö, J., Bonaventure, J., Vikkula, M., Hyland, J., Paassilta, P., Kaitila, I., Kääriäinen, H., Sokolov, B.P., Hakala, M., Mannismäki, P., Meerson, E.M., Klemola, T., Williams, C., Peltonen, L., Kivirikko, K.I., Prockop, D.J. and Ala-Kokko, L. Arthritis and Rheum 38(7), (1995), 999-1004. Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus - Vikkula, M., Mariman, E.C.M., Lui, V.C.H., Zhidkova, N.I., Tiller, G.E., Goldring, M., van Beersum, S.E.C., de Waal Malefijt, M.C., van den Hoogen, F.H.J., Ropers, H.-H., Mayne, R., Cheah, K.S.E., Olsen, B.R., Warman, M.L. and Brunner, H.G. Cell 80, (1995), 431-7. Assignment of a locus for dominantly inherited venous malformations to chromosome 9p - Boon, L.M., Mulliken, J.B., Vikkula, M., Watkins, H., Seidman, J., Olsen, B.R. and Warman, M.L. Hum Molec Genet 3, (1994), 1583-7. Type II collagen mutations in rare and common cartilage diseases - Vikkula, M., Metsäranta, M. and Ala-Kokko, L. Ann Med 26, (1994), 107-14. (review) A mutation in the amino terminal part of the triple helix of the type II collagen can also cause a severe cartilage disease - Vikkula, M., Ritvaniemi, P.,Vuorio, A.F., Kaitila, I., Ala-Kokko, L. and Peltonen, L. Genomics 16, (1993), 282-5. Early Onset Osteoarthritis Linked to Type II Procollagen Gene: clinical phenotype and confirmation of the linkage - Vikkula, M., Palotie, A., Ott, J., Ala-Kokko, L., Sievers, U., Aho, K. and Peltonen, L. Arthritis Rheum 36, (1993), 401-9. Multiallelic polymorphism of the cartilage collagen gene: no association with osteoarthrosis - Vikkula, M., Nissilä, M., Hirvensalo, E., Nuotio, P., Palotie, A., Aho, K. and Peltonen, L. Ann Rheum Dis 52, (1993), 762-4. Structural Analysis of the Regulatory Elements of the Type II Procollagen Gene: conservation of promoter and first intron sequences between human and mouse - Vikkula, M., Metsäranta, M., Syvänen, A.-C., Ala-Kokko, L., Vuorio, E. and Peltonen, L. Biochem J 285, (1992), 287-94. Predisposition to Familial Osteoarthrosis Linked to Type II Collagen Gene - Palotie, A., Väisänen, P., Ott, J., Ryhänen, L, Elima, K., Vikkula, M., Cheah, K.,Vuorio, E. and Peltonen, L. Lancet i, (1989), 924-7. Structural Analyses of the Polymorphic Area in Type II Collagen Gene - Vikkula, M. and Peltonen, L. FEBS Lett 250(2), (1989), 171-4.   ABSTRACTS PUBLIES Truncating mutations in the glomulin gene cause glomuvenous malformations - Vikkula, M., Brouillard, P., Boon, L.M., Mulliken, J.B., Enjolras, O., Warman, M.L., Tan, O. and Olsen, B.R. Eur J Hum Genet 9, suppl. 1, (2001), C048, p86. 1p/19q-deleted oligodendroglioma is a distinct histological tumour - Godfraind, C., Rousseau, E., Raftopoulos, C., Ruchoux, M., Scaravilli, F., Vikkula, M. Eur J Hum Genet 9, suppl. 1, (2001), P0128, p125. Linkage disequilibrium reduces the locus for velous malformations with "glomus cells" (VMGLOM) to a single YAC of 1.48 Mbp - Irrthum, A., Brouillard, P., Boon, L.M., Olsen, B.R., Mulliken, J.B., Enjolras, O., Vikkula, M. Eur J Hum Genet 9, suppl. 1, (2001), P1577, p410. Identification of two novel missense mutations in the CSX gene encoding a cardiac specific transcription factor - Gutierrez, I., Sluysmans, T., Devriendt, K., Vikkula, M. Eur J Hum Genet 9, suppl. 1, (2001), P1594, p414. Identification of eight novel 5'-exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1 - Eerola, I., McIntyre, B.A.S., Vikkula, M. Eur J Hum Genet 9, suppl. 1, (2001), P0725, p241. KRIT 1 is mutated in hyperkeratotic cutaneous cappry-venous malformation.-Eerola, I., Plate, K.H., Boon, L., Mulliken, J.B. and Vikkula, M. Eur J Hum Genet 8 suppl., (2000), SP-044. Inherited congenital lymphedema is caused by a loss-of-function mutation in VEGFR3 - Irrthum, A., Kärkkäinen, Devriendt, K., Alitalo, K. and Vikkula, M. Eur J Hum Genet 8 suppl., (2000), SP-084. Genomescan for loss-of-heterozygosity in central neurocytomas - Gondfraind, C., Raftopoulos, C. and Vikkula, M. Eur J Hum Genet 8 suppl., (2000), P-386. Linkage disequilibrium in the locus for venous malformations with 'glomus' cells: candidate region reduced to 1.48 Mbp - Vikkula, M., Irrthum, A. Brouillard, P., Boon, L., Olsen, B.R., Mulliken, B.J. and Enjolras, O. Eur J Hum Genet 8 suppl., (2000), P-460. High resolution physical and transcript map of the locus for venous malformations with glomus cells (VMGLOM) on chromosome 1p21-22 - Brouillard, P., Olsen, B.R. and Vikkula, M. Eur J Hum Genet 8 suppl., (2000), P-464. A gene for inherited cutaneous venous anomalies ("glomangiomas") localizes to chromosome 1p21-22 - Brouillard, P., Boon, L.M., Irrthum, A., Kartunnen, L., Warman, M.L., Rudolph, R., Mulliken, J.B., Olsen, B.R., Vikkula, M. Cytogenet Cell Genet 87, (1999), 165-6. A gene for inherited cutaneous venous anomalies ("glomangiomas") localizes to chromosome 1p21-22 - Vikkula, M., Boon, L.M., Brouillard, P., Irrthum, A., Karttunen, L.,Warman, M.L., Rudolph, R., Olsen, B.R., Mulliken J.B. Am J Hum Genet 65(4) suppl., (1999), A83. A second chromosomal locus linked to venous dysmorphogenesis - Vikkula, M., Boon, L.M., Brouillard, P., Irrthum, A., Karttunen, L., Olsen, B.R., Mulliken J.B. Eur J Hum Genet 7 suppl.1, (1999), P.566. Twenty novel COL2A1 and COL11A1 mutations in Stickler and Marshall syndromes - Körkkö, J., Annunen, S., Warman, M.L., Brunner, H.G., Kääriäinen, H., Mulliken, J.B., Cox, J., Curtis, M.A., Davenport, S., Friedrich, C., Kaitila, I., Mukai, S., Olsen, B.R., Shinno, N., Somer, M., Tranebjærg, L.,Vikkula, M., Zlotogora, J., Prockop, D.J., Ala-Kokko, L. Am J Hum Genet 63(4) suppl., (1998), A2139. Molecular background of congenital venous malformations - Vikkula, M., Boon, L.M., Mulliken, J.B., Olsen, B.R. Eur J Hum Genet 6 suppl.1, (1998), P4285. Molecular background of congenital venous malformations - Vikkula, M., Boon, L.M., Zhuang, Z.,Warman, M.L., Liotta, L., Mulliken, J.B., Olsen B.R. Am J Hum Genet 61(4) suppl., (1997), A12. Defect in signalling between endothelium and smooth muscle cells in inherited venous malformations - Vikkula, M., Boon, L.M., Mulliken, J.B., Goumnerov, B., Warman, M.L., Olsen, B.R. J Vasc Res 33 suppl.1, (1996), A412. The Osteoporosis-Pseudoglioma syndrome locus is on chromosome 11q - Gong, Y., Vikkula, M., Boon, L.M., Hirose, T., Somer, H., Peltonen, L., Ramesar, R., Beighton, P., Olsen, B.R., Warman, M.L. Am J Hum Genet 55(3) suppl., (1994), A186. A familial venous malformation locus is on chromosome 9p - Boon, L.M., Mulliken, J.B.,Vikkula, M.,Watkins, H., Seidman, J., Olsen, B.R., Warman, M.L. Am J Hum Genet 55(3) suppl., (1994), A181. Familial early onset osteoarthrosis is linked to type II procollagen gene (COL2A1) - Vikkula, M., Ala-Kokko, L., Ritvaniemi, P., Prockop, D.J., Peltonen, L. Scand J Rheumatol 93 suppl., (1992), 3. Predisposition of Familial Osteoarthrosis is Linked to Type II Collagen Gene - Palotie, A., Väisänen, P., Ott, J., Ryhänen, L.,Vikkula, M., Cheah, K.,Vuorio, E., Peltonen, L. Cytogenetics and Cell Genetics (Human Gene Mapping 10) 51/1-4, (1989). The Analysis of the Nucleotide Sequence of the Polymorphic Region in the Human Type II Collagen Gene - Vikkula, M., Peltonen, L. Matrix (Collagen and Related Research) 8(6), (1988), 510.

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15 March 2001 Concept: <liliana.niculescu@bchm.ucl.ac.be> Person in charge: <vikkula@bchm.ucl.ac.be>