Search Results - "van den Wijngaard, A"

Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands by Stunnenberg, B.C., Raaphorst, J., Deenen, J.C.W., Links, T.P., Wilde, A.A., Verbove, D.J., Kamsteeg, E.J., van den Wijngaard, A., Faber, C.G., van der Wilt, G.J., van Engelen, B.G.M., Drost, G., Ginjaar, H.B.

“…•Prevalence estimates of skeletal muscle channelopathies in the Netherlands.•Mutation spectrum of underlying gene defects in SCN4A, CLCN1, CACNA1S and…”
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Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines by Hitzert, M M, van der Crabben, S N, Baldewsingh, G, van Amstel, H K Ploos, van den Wijngaard, A, van Ravenswaaij-Arts, C M A, Zijlmans, C W R

“…Mandibuloacral Dysplasia with type B lipodystrophy (MADB) is a rare premature aging disorder with an autosomal recessive inheritance pattern. MADB is…”
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Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy by van den Wijngaard, A., Volders, P., Van Tintelen, J. P., Jongbloed, J. D. H., van den Berg, M. P., Lekanne Deprez, R. H., Mannens, M. M. A. M., Hofmann, N., Slegtenhorst, M., Dooijes, D., Michels, M., Arens, Y., Jongbloed, R., Smeets, B. J. M.

“…Background About 2-7% of familial cardiomyopathy cases are caused by a mutation in the gene encoding cardiac troponin I ( TNNI3 ). The related clinical…”
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Degradation of 1,2-dichloroethane by Ancylobacter aquaticus and other facultative methylotrophs by VAN DEN WIJNGAARD, A. J, VAN DER KAMP, K. W. H. J, VAN DER PLOEG, J, PRIES, F, KAZMIER, B, JANSSEN, D. B

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Degradation of 2-Chloroethylvinylether by Ancylobacter aquaticus AD25 and AD27 by VAN DEN WIJNGAARD, A. J, PRINS, J, SMAL, A. J. A. C, JANSSEN, D. B

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Aging promotes accumulation of senescent and multiciliated cells in human endometrial epithelium by Loid, Marina, Obukhova, Darina, Kask, Keiu, Apostolov, Apostol, Meltsov, Alvin, Tserpelis, Demis, van den Wijngaard, Arthur, Altmäe, Signe, Yahubyan, Galina, Baev, Vesselin, Saare, Merli, Peters, Maire, Minajeva, Ave, Adler, Priit, Acharya, Ganesh, Krjutškov, Kaarel, Nikolova, Maria, Vilella, Felipe, Simon, Carlos, Zamani Esteki, Masoud, Salumets, Andres

“…Abstract STUDY QUESTION What changes occur in the endometrium during aging, and do they impact fertility? SUMMARY ANSWER Both the transcriptome and cellular…”
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Kinetics of Bacterial Growth on Chlorinated Aliphatic Compounds by VAN DEN WIJNGAARD, A. J, WIND, R. D, JANSSEN, D. B

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Purification and characterization of haloalcohol dehalogenase from Arthrobacter sp. strain AD2 by van den Wijngaard, A J, Reuvekamp, P T, Janssen, D B

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Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq by Koster, R., Brandão, R. D., Tserpelis, D., van Roozendaal, C. E. P., van Oosterhoud, C. N., Claes, K. B. M., Paulussen, A. D. C., Sinnema, M., Vreeburg, M., van der Schoot, V., Stumpel, C. T. R. M., Broen, M. P. G., Spruijt, L., Jongmans, M. C. J., Lesnik Oberstein, S. A. J., Plomp, A. S., Misra-Isrie, M., Duijkers, F. A., Louwers, M. J., Szklarczyk, R., Derks, K. W. J., Brunner, H. G., van den Wijngaard, A., van Geel, M., Blok, M. J.

“…Neurofibromatosis type 1 (NF1) is caused by loss-of-function variants in the NF1 gene. Approximately 10% of these variants affect RNA splicing and are either…”
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A Glutathione S-Transferase with Activity towards cis-1,2-Dichloroepoxyethane Is Involved in Isoprene Utilization by Rhodococcus sp. Strain AD45 by VAN HYLCKAMA VLIEG, J. E. T, KINGMA, J, VAN DEN WIJNGAARD, A. J, JANSSEN, D. B

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Influence of organic nutrients and cocultures on the competitive behavior of 1,2-dichloroethane-degrading bacteria by VAN DEN WIJNGAARD, A. J, VAN DER KLEIJ, R. G, DOORNWEERD, R. E, JANSSEN, D. B

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Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands by Christiaans, I., Nannenberg, E. A., Dooijes, D., Jongbloed, R. J. E., Michels, M., Postema, P. G., Majoor-Krakauer, D., van den Wijngaard, A., Mannens, M. M. A. M., van Tintelen, J. P., van Langen, I. M., Wilde, A. A. M.

“…In this part of a series on cardiogenetic founder mutations in the Netherlands, we review the Dutch founder mutations in hypertrophic cardiomyopathy (HCM)…”
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Cytoplasmic localization of PML particles in laminopathies by Houben, F., De Vos, W. H., Krapels, I. P. C., Coorens, M., Kierkels, G. J. J., Kamps, M. A. F., Verstraeten, V. L. R. M., Marcelis, C. L. M., van den Wijngaard, A., Ramaekers, F. C. S., Broers, J. L. V.

“…There is growing evidence that laminopathies, diseases associated with mutations in the LMNA gene, are caused by a combination of mechanical and gene…”
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Recurrent and founder mutations in the Netherlands: the cardiac phenotype of DES founder mutations p.S13F and p.N342D by van Spaendonck-Zwarts, K. Y., van der Kooi, A. J., van den Berg, M. P., Ippel, E. F., Boven, L. G., Yee, W.-C., van den Wijngaard, A., Brusse, E., Hoogendijk, J. E., Doevendans, P. A., de Visser, M., Jongbloed, J. D. H., van Tintelen, J. P.

“…Background Desmin-related myopathy (DRM) is an autosomally inherited skeletal and cardiac myopathy, mainly caused by dominant mutations in the desmin gene (…”
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Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation by Overeem, S, Schelhaas, H.J, Blijham, P.J, Grootscholten, M.I, ter Laak, H.J, Timmermans, J, van den Wijngaard, A, Zwarts, M.J

“…Abstract Mutations in the myosin heavy chain gene ( MYH7 ) can cause several distinct phenotypes depending on the location of the mutation: hypertrophic…”
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The role of spontaneous cap domain mutations in haloalkane dehalogenase specificity and evolution by Pries, F, van den Wijngaard, A J, Bos, R, Pentenga, M, Janssen, D B

“…The first step in the utilization of the xenobiotic chlorinated hydrocarbon 1,2-dichloroethane by Xanthobacter autotrophicus is catalyzed by haloalkane…”
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Fine Mapping of the Human Bone Morphogenetic Protein-4 Gene (BMP4) to Chromosome 14q22-q23 by in Situ Hybridization by van den Wijngaard, Arthur, Weghuis, Daniël Olde, Boersma, Christine J.C., van Zoelen, Everardus J.J., van Kessel, Ad Geurts, Olijve, Wiebe

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Exercise related ventricular arrhythmias are related to cardiac fibrosis in hypertrophic cardiomyopathy mutation carriers by van Rijsingen, I. A. W., Bekkers, S. C. A. M., Schalla, S., Hermans-van Ast, J. F., Snoep, G., Alzand, B. S. N., Arens, Y. H. J. M., van den Wijngaard, A., Crijns, H. J. G. M., Pinto, Y. M.

“…Aims Hypertrophic cardiomyopathy (HCM) is a frequent cause of sudden cardiac death (SCD) due to exercise-related ventricular arrhythmias (ERVA); however the…”
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D.P.3.03 Inflammatory myopathy in scapulo-ilio-peroneal atrophy with cardiopathy in two unrelated families is associated with the desmin mutation Asn342Asp by van der Kooi, A.J, Kraak, M.M.J, Ippel, P.F, Vrancken, A.F, Hoogendijk, J.E, van den Wijngaard, A, van Tintelen, J.P, de Visser, M, Jennekens, F.G.I, Jongbloed, J.D.H

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Antiestrogens Specifically Up-Regulate Bone Morphogenetic Protein-4 Promoter Activity in Human Osteoblastic Cells by van den Wijngaard, A, Mulder, W. R, Dijkema, R, Boersma, C. J .C, Mosselman, S, van Zoelen, E. J. J, Olijve, W

“…Bone morphogenetic protein-4 (BMP-4) plays an important role in the onset of endochondral bone formation in humans, and a reduction in BMP-4 expression has…”
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