Zobrazeno 1 - 10
of 80
pro vyhledávání: '"F S, Collins"'
Publikováno v:
Methods in molecular biology (Clifton, N.J.). 12
The technology of cloning large fragments of DNA in yeast as yeast artificial chromosomes (YACs) (1), combined with that of electro-phoretic separation of large fragments by pulsed-field gel electrophoresis (PFGE), has revolutionized research in mole
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::89058b6930ecea861137febccd55ddb1
https://pubmed.ncbi.nlm.nih.gov/21409638
https://pubmed.ncbi.nlm.nih.gov/21409638
Publikováno v:
Blood. 78:1853-1863
We have analyzed the binding of Sp1, a ubiquitously expressed transactivator, to the promoter region of the gamma genes. Low-affinity Sp1 sites were found at -50 and -200. A high-affinity site was detected at -140, over the CACCC sequence. To analyze
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6241500173356a8e2ba506d520487427
https://doi.org/10.1182/blood.v78.7.1853.1853
https://doi.org/10.1182/blood.v78.7.1853.1853
Autor:
F. S. Collins
Publikováno v:
Genome research. 11(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba74be48e1be5ffd573193c875a6aee7
https://pubmed.ncbi.nlm.nih.gov/11337461
https://pubmed.ncbi.nlm.nih.gov/11337461
Autor:
J A, Douglas, M R, Erdos, R M, Watanabe, A, Braun, C L, Johnston, P, Oeth, K L, Mohlke, T T, Valle, C, Ehnholm, T A, Buchanan, R N, Bergman, F S, Collins, M, Boehnke, J, Tuomilehto
Publikováno v:
Diabetes. 50(4)
Recent studies have identified a common proline-to-alanine substitution (Pro12Ala) in the peroxisome proliferator-activated receptor-gamma2 (PPAR-gamma2), a nuclear receptor that regulates adipocyte differentiation and possibly insulin sensitivity. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9ed875431e646aaa5d495e05633edec5
https://pubmed.ncbi.nlm.nih.gov/11289057
https://pubmed.ncbi.nlm.nih.gov/11289057
Autor:
F S, Collins, M K, Mansoura
Publikováno v:
Cancer. 91
The information derived from the Human Genome Project, an international effort to decode the information embedded in the human genome, will revolutionize the practice of medicine in the 21st century by providing the tools to determine the hereditary
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6bde5a326605d5dc1386bb4e3b07a4c8
https://pubmed.ncbi.nlm.nih.gov/11148583
https://pubmed.ncbi.nlm.nih.gov/11148583
Publikováno v:
Human mutation. 16(4)
Prior studies of oligonucleotide microarray-based mutational analysis have demonstrated excellent sensitivity and specificity except in circumstances where a frameshift mutation occurs in the context of a short repeated sequence. To further evaluate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4f0d4c831f62d7f4d85453762a1ff6ee
https://pubmed.ncbi.nlm.nih.gov/11013446
https://pubmed.ncbi.nlm.nih.gov/11013446
Autor:
Z E, Karanjawala, H, Kääriäinen, S, Ghosh, J, Tannenbaum, C, Martin, D, Ally, J, Tuomilehto, T, Valle, F S, Collins
Publikováno v:
American journal of medical genetics. 93(3)
Uniparental disomy (UPD) is a condition in which diploid individuals possess a chromosome pair from a single parent. In some instances, UPD causes an abnormal phenotype due to imprinting effects, reduction to homozygosity at recessive disease loci, o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::684fe8291628570956ee981acf71cf99
https://pubmed.ncbi.nlm.nih.gov/10925383
https://pubmed.ncbi.nlm.nih.gov/10925383
Autor:
L V, Debelenko, J I, Swalwell, M J, Kelley, E, Brambilla, P, Manickam, G, Baibakov, S K, Agarwal, A M, Spiegel, S J, Marx, S C, Chandrasekharappa, F S, Collins, W D, Travis, M R, Emmert-Buck
Publikováno v:
Genes, chromosomescancer. 28(1)
Neuroendocrine tumors of the lung consist of a spectrum of neoplasms, including typical carcinoids, atypical carcinoids, large-cell neuroendocrine carcinomas (LCNEC), and small-cell lung carcinomas (SCLC). We previously reported frequent inactivation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e51b08061743f970f93f0f992661a73e
https://pubmed.ncbi.nlm.nih.gov/10738303
https://pubmed.ncbi.nlm.nih.gov/10738303
Autor:
S J, Marx, S K, Agarwal, M B, Kester, C, Heppner, Y S, Kim, M C, Skarulis, L A, James, P K, Goldsmith, S K, Saggar, S Y, Park, A M, Spiegel, A L, Burns, L V, Debelenko, Z, Zhuang, I A, Lubensky, L A, Liotta, M R, Emmert-Buck, S C, Guru, P, Manickam, J, Crabtree, M R, Erdos, F S, Collins, S C, Chandrasekharappa
Publikováno v:
Recent progress in hormone research. 54
MEN1 is a syndrome of parathyroid adenomas, gastrinomas, prolactinomas, and other endocrine tumors. Collagenomas and facial angiofibromas are newly recognized but common skin expressions. Many tumors in MEN1 are benign; however, many entero-pancreati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::80b79b978e3f3c52e760c0e6180d890b
https://pubmed.ncbi.nlm.nih.gov/10548885
https://pubmed.ncbi.nlm.nih.gov/10548885