Výsledky vyhledávání - "E. R. Van Der Vorm"

A mutation in the insulin receptor that impairs proreceptor processing but not insulin binding

Autor: H. M. J. Krans, A. Kuipers, J. A. Maassen, E. R. Van Der Vorm, S. Kielkopf-Renner, Wim Möller

Publikováno v: Journal of Biological Chemistry. 269:14297-14302

Here we report the identification of a new mutation in the alpha-chain of the insulin receptor, changing Trp412 into Ser using DNA from consanguineous parents who gave birth to a child with leprechaunism. The mutant receptor was expressed stably in C

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b04297d6e8c176e4a7af6d752bccadff
https://doi.org/10.1016/s0021-9258(17)36788-1

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Successful treatment of a disseminated Nocardia brasiliensis infection

Autor: M.A. van Agtmael, L. C. Smeets, E. R. van der Vorm

Publikováno v: European Journal of Clinical Microbiology and Infectious Diseases, 24(5), 350-351. Springer Verlag
Smeets, L C, Van Agtmael, M A & Van Der Vorm, E R 2005, ' Successful treatment of a disseminated Nocardia brasiliensis infection ', European Journal of Clinical Microbiology and Infectious Diseases, vol. 24, no. 5, pp. 350-351 . https://doi.org/10.1007/s10096-005-1323-9

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1391435ed8408cfc92a03ba1b702542
https://pubmed.ncbi.nlm.nih.gov/15889299

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[Two hospital staff with throat carriage of methicillin-resistant Staphylococcus aureus, which had to be treated with systemic antibiotics]

Autor: E R, van der Vorm, E H, Groenendijk

Publikováno v: Nederlands tijdschrift voor geneeskunde. 147(22)

Two hospital staff, women aged 20 and 22 years, were inadvertently found to be positive for methicillin-resistant Staphylococcus aureus (MRSA). Both had been in a hospital outside of the Netherlands, but due to the long period of time that had elapse

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6f072e900226716a5852a49c2324f0c4
https://pubmed.ncbi.nlm.nih.gov/12814022

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Oerskovia xanthineolytica bacteremia in an immunocompromised patient without a foreign body

Autor: J. D. M. Gökemeijer, C. G. L. van Luyn-Wiegers, E. R. van der Vorm, S. M. L. Niamut

Publikováno v: European Journal of Clinical Microbiology and Infectious Diseases, 22(4), 274-5. Springer Verlag
Niamut, SM, van der Vorm, E R, van Luyn-Wiegers, CG & Gokemeijer, JD 2003, ' Oerskovia xanthineolytica bacteremia in an immunocompromised patient without a foreign body. ', European Journal of Clinical Microbiology and Infectious Diseases, vol. 22, no. 4, pp. 274-5 . https://doi.org/10.1007/s10096-003-0900-z

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5fdafef74145796c8c1fe5dd3116bfe
https://pubmed.ncbi.nlm.nih.gov/12709844

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Apparent culture-negative prosthetic valve endocarditis caused by Peptostreptococcus magnus

Autor: R J van Ketel, Jacob Dankert, A M Dondorp, E. R. Van Der Vorm

Publikováno v: Journal of clinical microbiology, 38(12), 4640-4642. American Society for Microbiology

In two patients with prosthetic valve endocarditis due to Peptostreptococcus magnus , blood cultures in the BacT/Alert and BACTEC 9240 systems were signal negative. The capability of the BacT/Alert system to detect various Peptostreptococcus species

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34761fa3b22a735d36c7bc8a9244a05d
https://pubmed.ncbi.nlm.nih.gov/11101611

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Alternative splicing of the insulin receptor isoforms is altered in patients with leprechaunism

Autor: E. R. Van Der Vorm, J. A. Maassen

Publikováno v: Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme. 26(12)

Leprechaunism is a syndrome of severe insulin resistance. In general, mutations in both alleles of the insulin receptor are required for developing the leprechaun phenotype. Recently, we described a leprechaun patient having an Arg for Gly substituti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5873161dfe297a9600f597026eee6ae
https://pubmed.ncbi.nlm.nih.gov/7535732

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A mutation in the insulin receptor that impairs proreceptor processing but not insulin binding

Autor: E R, van der Vorm, A, Kuipers, S, Kielkopf-Renner, H M, Krans, W, Möller, J A, Maassen

Publikováno v: The Journal of biological chemistry. 269(19)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::cdedaabdc1313df1aeb8d0b6d12e224c
https://pubmed.ncbi.nlm.nih.gov/8188715

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An in-frame insertion in exon 3 and a nonsense mutation in exon 2 of the insulin receptor gene associated with severe insulin resistance in a patient with Rabson-Mendenhall syndrome

Autor: S. R. Rosipal, Johannes A Maassen, M. Dreyer, H. W. Rüdiger, Eva Seemanova, E. R. Van Der Vorm, Dirk Müller-Wieland, R. Streicher, Wilhelm Krone

Publikováno v: Diabetologia. 36(11)

We have studied the structure and function of the insulin receptor in a patient (PK) with severe insulin resistance and Rabson-Mendenhall syndrome. Insulin binding to cultured fibroblasts from PK was almost not detectable and insulin-induced insulin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c0a1e930415342fd2041efedfc9f1f2
https://pubmed.ncbi.nlm.nih.gov/8270132

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Patients with lipodystrophic diabetes mellitus of the Seip-Berardinelli type, express normal insulin receptors

Autor: Wim J. Kleijer, J. W. Bonenkamp, L. Van Maldergem, A. Kuipers, Johannes A Maassen, E. R. Van Der Vorm, J. Herwig

Publikováno v: Diabetologia. 36(2)

Lipodystrophic diabetes mellitus of the Seip-Berardinelli type is a syndrome associated with insulin resistance and recessive inheritance. We have examined whether mutations in the insulin receptor are pathogenetic factors in this syndrome. Fibroblas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d0d45a22a37bd4d8fa51967eee47a7d
https://pubmed.ncbi.nlm.nih.gov/8458533

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An Arg for Gly substitution at position 31 in the insulin receptor, linked to insulin resistance, inhibits receptor processing and transport

Autor: E R, van der Vorm, G C, van der Zon, W, Möller, H M, Krans, D, Lindhout, J A, Maassen

Publikováno v: The Journal of biological chemistry. 267(1)

In a patient with Leprechaunism, we have characterized a new mutation in the insulin receptor substituting Arg for Gly at position 31. The proband, the mother, and the maternal grandfather were heterozygous for the mutation. Fibroblasts of the proban

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0a3fac3b0b2a7b9224254a6ca74a4b8f
https://pubmed.ncbi.nlm.nih.gov/1730625

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