Výsledky vyhledávání - "Lone B. Andersen"

Mutations in the neurofibromatosis 1 gene in sporadic malignant melanoma cell lines

Autor: Nicholas C. Dracopoli, Thomas W. Glover, Francis S. Collins, Susan A. Tarlé, Lone B. Andersen, David H. Gutmann, Jane W. Fountain, David E. Housman

Publikováno v: Nature Genetics. 3:118-121

Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder characterized by progressive and variable involvement of tissues predominantly derived from the neural crest and a predisposition toward malignancies. The NF1 gene encodes neurofi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b228dc837ea1bf258258db6a160b5cdd
https://doi.org/10.1038/ng0293-118

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A Conserved Alternative Splice in the von Recklinghausen Neurofibromatosis (NF1) Gene Produces Two Neurofibromin Isoforms, Both of Which Have GTPase-Activating Protein Activity

Autor: Douglas A. Marchuk, Michael Wigler, J. Camonis, Lone B. Andersen, Ann M. Saulino, Eric C. Chang, R. Ballester, David H. Gutmann, Francis S. Collins

Publikováno v: Molecular and Cellular Biology. 13:487-495

Sequence analysis has shown significant homology between the catalytic regions of the mammalian ras GTPase-activating protein (GAP), yeast Ira1p and Ira2p (inhibitory regulators of the RAS-cyclic AMP pathway), and neurofibromin, the protein encoded b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfa6035467f360dc6aa62fa577de0be2
https://doi.org/10.1128/mcb.13.1.487-495.1993

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cDNA sequence and genomic structure of EVI2B, a gene lying within an intron of the neurofibromatosis type 1 gene

Autor: Francis S. Collins, David Viskochil, Ray White, Peter O'Connell, Nancy A. Jenkins, Douglas A. Marchuk, Richard M. Cawthon, Margaret R. Wallace, Jeff Stevens, Melanie Culver, Gangfeng Xu, Neal G. Copeland, Arthur M. Buchberg, Lone B. Andersen, Robert B. Weiss

Publikováno v: Genomics. 9:446-460

The gene responsible for neurofibromatosis type 1 (NF1), one of the more common inherited human disorders, was identified recently, and segments of it were cloned. Two translocation breakpoints that interrupt the NF1 gene in NF1 patients flank a 60-k

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d1c486d4f59479b7bd18852960231849
https://doi.org/10.1016/0888-7543(91)90410-g

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A chromosome jump crosses a translocation breakpoint in the von recklinghausen neurofibromatosis region

Autor: Jane W. Fountain, Margaret R. Wallace, Peter O'Connell, Ray White, Francis S. Collins, Lone B. Andersen, Hana Odeh, Douglas A. Marchuk, David Viskochil

Publikováno v: Genes, Chromosomes and Cancer. 2:271-277

The von Recklinghausen neurofibromatosis (NFI) gene has been previously localized to the region 17q11.2 by genetic analysis. Consistent with this, two NFI patients have been described with autosomal translocations with breakpoints in 17q11.2, and the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34693b75a775806bcc5fe251668d9b4f
https://doi.org/10.1002/gcc.2870020404

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Lineage-specific CaN19 expression in human skin: lack of expression in normal melanocytes

Autor: Longqing Xia, James T. Elder, Stefan W. Stoll, Xinping Zhao, Lone B. Andersen

Publikováno v: Journal of dermatological science. 12(1)

Although expression of CaN19 is reduced in cell lines derived from tumors of diverse origin, its expression in their normal counterparts has not been studied in detail. We find that CaN19 mRNA is expressed at very low to undetectable levels in normal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d210d3939f41acd49cc4e4861c9a4632
https://pubmed.ncbi.nlm.nih.gov/8740464

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An EcoRI RFLP in the 5' region of the human NF1 gene

Autor: P. J. Willems, Edwin Reyniers, Douglas A. Marchuk, K. De Boulle, Lone B. Andersen, Frank H. Collins

Publikováno v: Human genetics. 92(6)

Von Recklinghausen neurofibromatosis or type l neurofibromatosis (NF1), is one of the most common autosomal dominant disorders. NF1 is characterized by neurofibromas, cafe-au-lait spots and Lisch nodules of the iris. The NF1 gene is located in 17q11.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5b32e1e1a2ab7bc83ab3d639bf4ce24
https://pubmed.ncbi.nlm.nih.gov/7903272

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An alternatively-spliced mRNA in the carboxy terminus of the neurofibromatosis type 1 (NF1) gene is expressed in muscle

Autor: Jeffery L. Cole, Francis S. Collins, Manju Swaroop, Lone B. Andersen, David H. Gutmann

Publikováno v: Human molecular genetics. 2(7)

The gene for neurofibromatosis type 1 (NF1) was identified by positional cloning and found to contain two alternatively spliced exons. The first described alternatively spliced exon (exon 23a) is located within the GAP-related domain of the gene and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f49c9cc53947416145abbe8578f834b5
https://pubmed.ncbi.nlm.nih.gov/8364582

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NF1-related locus on chromosome 15

Autor: Francis S. Collins, Eric Legius, Margaret R. Wallace, Thomas W. Glover, Douglas A. Marchuk, Lone B. Andersen, Bryan K. Hall

Publikováno v: Genomics. 13(4)

A neurofibromatosis type I (NF1)-related locus has been identified on chromosome 15. It contains a partial copy of the NF1 GAP-related domain, which is known to interact with the ras protooncogenes. However, the chromosome 15 sequence contains multip

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b09a9981c982d437a8ff86fd62297874
https://pubmed.ncbi.nlm.nih.gov/1505963

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A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene

Autor: Francis S. Collins, Eric Legius, Douglas A. Marchuk, Chin-To Fong, Patricia Taillon-Miller, Lone B. Andersen, Roxanne Tavakkol, Bernard H. Brownstein, Margaret R. Wallace, Thomas W. Glover

Publikováno v: Genomics. 13(3)

The yeast artificial chromosome (YAC) system (Burke et al. , 1987, Science 236: 806–812) allows the direct cloning of large regions of the genome. A YAC contig map of approximately 700 kb encompassing the region surrounding the type 1 neurofibromat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2e28e0ec5842223d7dfd7254250a9b2
https://pubmed.ncbi.nlm.nih.gov/1639394

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cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product

Autor: Lone B. Andersen, Douglas A. Marchuk, Roxanne Tavakkol, David H. Gutmann, Manju Swaroop, Margaret R. Wallace, Anna L. Mitchell, Francis S. Collins, Ann M. Saulino, Mark S. Boguski

Publikováno v: Genomics. 11(4)

Von Recklinghausen neurofibromatosis, or type 1 neurofibromatosis (NF1), is a common autosomal dominant disorder characterized by abnormalities in multiple tissues derived from the embryonic neural crest. Portions of the gene have been recently ident

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a3f4a4b16978bb64e91e64a9a90d1fe
https://pubmed.ncbi.nlm.nih.gov/1783401

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