Zobrazeno 1 - 10
of 88
pro vyhledávání: '"H, Mohrenweiser"'
Publikováno v:
Current Biology. 7(8):615-618
Activation of various immune cell types can be prevented by negative signaling receptors. Natural killer (NK) cells, which can lyse tumor or virus-infected cells, express inhibitory receptors that recognise distinct ‘self' class I molecules of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef4156527ccee82330aa659aa567b504
Autor:
M.D. Briggs, S.M.G. Hoffman, L.M. King, A.S. Olsen, H. Mohrenweiser, J.G. Leroy, G.R. Mortier, D.L. Rimoin, R.S. Lachman, E.S. Gaines, J.A. Cekleniak, R.G. Knowlton, D.H. Cohn
Publikováno v:
Nature Genetics. 10:330-336
Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are dominantly inherited chondrodysplasias characterized by short stature and early-onset osteoarthrosis. The disease genes in families with PSACH and MED have been localized to an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e772e649fc84f6b9aa14e7ed164f2c1b
https://doi.org/10.1038/ng0795-330
https://doi.org/10.1038/ng0795-330
Autor:
Barry W. Glickman, Bryn A. Bridges, K. Sankaranarayanan, H. Mohrenweiser, Thomas R. Skopek, J. Favor, Jane Cole
Publikováno v:
Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis. 304:3-11
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::17e10dd40ba6b8a9f267890fa13d261b
https://doi.org/10.1016/0027-5107(94)90317-4
https://doi.org/10.1016/0027-5107(94)90317-4
Publikováno v:
Cancer research. 58(4)
The removal or repair of DNA damage has a key role in protecting the genome of the cell from the insults of cancer-causing agents. This was originally demonstrated in individuals with the rare genetic disease xeroderma pigmentosum, the paradigm of ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c77012e17082a5bef43467d8fc33cf0d
https://pubmed.ncbi.nlm.nih.gov/9485007
https://pubmed.ncbi.nlm.nih.gov/9485007
Autor:
R A, Ophoff, G M, Terwindt, M N, Vergouwe, R, van Eijk, H, Mohrenweiser, M, Litt, M H, Hofker, J, Haan, M D, Ferrari, R R, Frants
Publikováno v:
European journal of human genetics : EJHG. 4(6)
Familial hemiplegic migraine (FHM) is an autosomal domianant subtype of migraine with attacks, associated with transient episodes of hemiparesis. One of the genes for FHM has been assigned to chromosome 19p13. Detailed analysis of critical recombinan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b6dff0fcb73ccbe1bb9cde2ee49624d1
https://pubmed.ncbi.nlm.nih.gov/9043864
https://pubmed.ncbi.nlm.nih.gov/9043864
Autor:
P, Fernandez-Salguero, S M, Hoffman, S, Cholerton, H, Mohrenweiser, H, Raunio, A, Rautio, O, Pelkonen, J D, Huang, W E, Evans, J R, Idle
Publikováno v:
American journal of human genetics. 57(3)
A group of human cytochrome P450 genes encompassing the CYP2A, CYP2B, and CYP2F subfamilies were cloned and assembled into a 350-kb contig localized on the long arm of chromosome 19. Three complete CYP2A genes--CYP2A6, CYP2A7, and CYP2A13--plus two p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ae30de61456ea818ee0e8865132bbcf9
https://pubmed.ncbi.nlm.nih.gov/7668294
https://pubmed.ncbi.nlm.nih.gov/7668294
Autor:
H, Mohrenweiser
Publikováno v:
Mutation research. 304(1)
Review of the molecular characteristics of the variants identified at a series of disease loci suggests significant differences among loci in the relative frequency of nucleotide substitutions versus more complex events such as deletions. Some common
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::aec4bc0ba47e353259b619ea2ebab855
https://pubmed.ncbi.nlm.nih.gov/7506352
https://pubmed.ncbi.nlm.nih.gov/7506352
Autor:
B A, Bridges, J, Cole, J, Favor, B W, Glickman, H, Mohrenweiser, K, Sankaranarayanan, T R, Skopek
Publikováno v:
Mutation research. 304(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5b601fce2ba8d299b3488a5aba334127
https://pubmed.ncbi.nlm.nih.gov/7506356
https://pubmed.ncbi.nlm.nih.gov/7506356
Autor:
Anne-Marie Eades-Perner, P. Osthus-Bugat, Sabine Barnert, K. Tynan, S. von Kleist, I. Craig, A. Olsen, C. Schleussner, H. Mohrenweiser, T.C. Willcocks, Wolfgang Zimmermann, John A. Thompson
Publikováno v:
Genomics. 12(4)
A long-range physical map of the carcinoembryonic antigen (CEA) gene family cluster, which is located on the long arm of chromosome 19, has been constructed. This was achieved by hybridization analysis of large DNA fragments separated by pulse-field
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be0356698628119da14ad084a95031b8
https://pubmed.ncbi.nlm.nih.gov/1572649
https://pubmed.ncbi.nlm.nih.gov/1572649
Fanconi anemia (FA) is an inherited human disorder associated with a predisposition to cancer and characterized by anomalies in the processing of DNA cross-links and certain monoadducts. We reported previously that the frequency of psoralen-photoindu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da94f6bc17c6b0573a8bf04c48f2cccb
https://europepmc.org/articles/PMC54960/
https://europepmc.org/articles/PMC54960/
