Zobrazeno 1 - 10
of 67
pro vyhledávání: '"M. Coerwinkel"'
Autor:
M. Coerwinkel-Driessen, Derick G. Wansink, Patricia J. T. A. Groenen, Bé Wieringa, René E. M. A. van Herpen, Brian A. Hemmings
Publikováno v:
Molecular and Cellular Biology, 23, 16, pp. 5489-501
Molecular and Cellular Biology, 23, 5489-501
Molecular and Cellular Biology, 23, 5489-501
Item does not contain fulltext Transcripts of the myotonic dystrophy protein kinase (DMPK) gene, a member of the Rho kinase family, are subject to cell-type specific alternative splicing. An imbalance in the splice isoform profile of DMPK may play a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5ecac57cc3282815ddc6294fee1349f
https://doi.org/10.1128/mcb.23.16.5489-5501.2003
https://doi.org/10.1128/mcb.23.16.5489-5501.2003
Autor:
G. Jansen, M. Mahadevan, C. Amemiya, N. Wormskamp, B. Segers, W. Hendriks, K. O'Hoy, S. Baird, L. Sabourin, G. Lennon, P.L. Jap, D. Iles, M. Coerwinkel, M. Hofker, A. V. Carrano, P. J. de Jong, R. G. Korneluk, B. Wieringa
Publikováno v:
Nature Genetics. 1:261-266
The mutation underlying myotonic dystrophy (DM) has been identified as an expansion of a polymorphic CTG-repeat in a gene encoding protein kinase activity. Brain and heart transcripts of the DM-kinase (DMR-B15) gene are subject to alternative RNA spl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::312b9b31c9cf2cd0cc871c69f9f19e79
https://doi.org/10.1038/ng0792-261
https://doi.org/10.1038/ng0792-261
Publikováno v:
Human molecular genetics. 2(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cff07df37033486f50dc0920d0ee084
https://pubmed.ncbi.nlm.nih.gov/8499928
https://pubmed.ncbi.nlm.nih.gov/8499928
Publikováno v:
Nucleic acids research. 19(7)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebb3bf30f5ead59c9b8035e17435d06d
https://pubmed.ncbi.nlm.nih.gov/1709283
https://pubmed.ncbi.nlm.nih.gov/1709283
Autor:
H.J.M. Smeets, T. Hulsebos, F. Spaans, H.-H. Ropers, Bé Wieringa, M. Coerwinkel-Driessen, Han G. Brunner
Publikováno v:
Neurology, 41(1), 80-84. Lippincott Williams and Wilkins
We identified a large kindred that shows classical myotonic dystrophy (MyD), together with hereditary motor and sensory neuropathy (HMSN) in some individuals, and HMSN alone in others. A previous study of this family has shown cosegregation of the My
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f6780222d6ba6467ad140fe2d739a83
https://pure.amc.nl/en/publications/genetic-linkage-with-chromosome-19-but-not-chromosome-17-in-a-family-with-myotonic-dystrophy-associated-with-hereditary-motor-and-sensory-neuropathy(05497532-acb0-44a4-a9c9-29c0d2db4f45).html
https://pure.amc.nl/en/publications/genetic-linkage-with-chromosome-19-but-not-chromosome-17-in-a-family-with-myotonic-dystrophy-associated-with-hereditary-motor-and-sensory-neuropathy(05497532-acb0-44a4-a9c9-29c0d2db4f45).html
Autor:
H, Smeets, L, Bachinski, M, Coerwinkel, J, Schepens, J, Hoeijmakers, M, van Duin, K H, Grzeschik, C A, Weber, P, de Jong, M J, Siciliano
Publikováno v:
American journal of human genetics. 46(3)
We report on the physical ordering of genes in a relatively small area of chromosome 19, segment q13, containing the locus for myotonic dystrophy (DM), the most frequent heritable muscular dystrophy of adulthood in man. DNAs from somatic cell hybrids
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ba778cb45e1ed5471e8f545f17aeb015
https://pubmed.ncbi.nlm.nih.gov/2309701
https://pubmed.ncbi.nlm.nih.gov/2309701
Autor:
Rosella P.M.G. Hermens, R.J. Vlietstra, M. Coerwinkel, Peter Riegman, B. Wieringa, Jan Trapman, Hubert J.M. Smeets
Publikováno v:
Nucleic Acids Research, 18(1). Oxford University Press
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a1ac906e06b95301b647780e26eef75
https://pubmed.ncbi.nlm.nih.gov/1689821
https://pubmed.ncbi.nlm.nih.gov/1689821
Autor:
H.H. Ropers, Jan Schepens, M. Coerwinkel-Driessen, D. Schonk, Bé Wieringa, T. Hulsebos, I. van Dalen
Publikováno v:
Cytogenetics and cell genetics. 47(3)
We have cloned and characterized two distinct types of alphoid DNA elements. Probe pG-Xbal 1/340 was obtained by random cloning of human satellite DNA and contains two basic units with overall 88% homology to the 171 -bp consensus alphoid sequence. p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e41f785a4e82da0eab236caeead99af0
https://pubmed.ncbi.nlm.nih.gov/2837365
https://pubmed.ncbi.nlm.nih.gov/2837365
Autor:
F. T. J. J. Oerlemans, R. A. Binkhorst, E. M. G. Joosten, M. M. Coerwinkel, T. L. Oei, Ron A. Wevers, S.P.T. Sinkeler, C. A. van Bennekom
Publikováno v:
Clinical science (London, England : 1979). 70(4)
1. Plasma adenosine, inosine and hypoxanthine concentrations were assayed in seven control subjects, five myoadenylate deaminase deficient (MADD) patients and six McArdle patients before and after ischaemic forearm exercise. 2. The plasma adenosine i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64214996404cda7348be3d618831dc0f
https://pubmed.ncbi.nlm.nih.gov/3457669
https://pubmed.ncbi.nlm.nih.gov/3457669
Autor:
H, Brunner, M, Coerwinkel-Driessen, B, Smeets, D, Schonk, J, Schepens, F, Oerlemans, B, Hamel, H, Ropers, B, Wieringa
Publikováno v:
Progress in clinical and biological research. 306
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cce9274b7a03d36a23255c95f710934e
https://pubmed.ncbi.nlm.nih.gov/2740406
https://pubmed.ncbi.nlm.nih.gov/2740406