Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Susan E. Walther"'
Laboratory genetic counselors are in a unique position to contribute to the medical literature on genetic testing and genetic conditions given their exposure to a wide variety and large volume of genetic tests and results. They have the opportunity t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::deda96ed6b4b0082d3b2f2af6df78dcd
https://doi.org/10.1093/med/9780190604929.003.0015
https://doi.org/10.1093/med/9780190604929.003.0015
Publikováno v:
Human Genetics. 128:61-77
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant, vascular disease hallmarked by the development of arteriovenous malformations (AVMs). Germline mutations in two genes, endoglin (ENG) and activin receptor like kinase 1 (ACVRL1), h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cedf39c6fcea5e570fc0ce9aeb01e901
https://doi.org/10.1007/s00439-010-0825-4
https://doi.org/10.1007/s00439-010-0825-4
Autor:
Ekaterina G. Shatalova, Rebecca L. Blanchard, Timothy R. Rebbeck, Susan E Walther, Olga O Favorova
Publikováno v:
Breast Cancer Research
Introduction Estrogens are important in breast cancer development. SULT1A1 and UGT1A1 catalyze estrogen metabolism and are polymorphic. The SULT1A1*2 protein exhibits low activity, and a TA repeat within the UGT1A1 promoter alters the level of expres
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcfecb363964cdd78cdfcc271de8b722
http://europepmc.org/articles/PMC1410736
http://europepmc.org/articles/PMC1410736
Autor:
Susan E. Walther, David T. Denhardt, Shiaw-Min Hwang, Ellen E. Rollo, Xiao-Rong An, Cecilia A. Lopez
Publikováno v:
Annals of the New York Academy of Sciences. 760:127-142
Osteopontin (OPN) serves both a cell attachment function and a cell signalling function via the alpha v beta 3 integrin. We have investigated the action on mammalian cells of recombinant OPN made both in E. coli and in human cells. In its cell signal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dab97689e5b3bdf1df993a4390d348bc
https://doi.org/10.1111/j.1749-6632.1995.tb44625.x
https://doi.org/10.1111/j.1749-6632.1995.tb44625.x
Publikováno v:
Inflammation. 18:35-43
Mouse TIMP-1, one of the tissue inhibitors of metalloproteinases important in regulating turnover of extracellular matrix in both normal and pathological tissues, was previously expressed in E. coli in an inactive, nonglycosylated state that required
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cac9970b088b219724b7ad98b13aab4
https://doi.org/10.1007/bf01534596
https://doi.org/10.1007/bf01534596
Publikováno v:
FEBS Letters. 307:375-378
Tissue inhibitors of metalloproteinases (TIMPs) constitute a family of secreted glycoproteins involved in regulating extracellular matrix degradation in both normal and malignant tissues. We have expressed a cDNA clone of mouse TIMP-1 as a 22-kDa pro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f058438a31016b6da94c91a61869344d
https://doi.org/10.1016/0014-5793(92)80716-t
https://doi.org/10.1016/0014-5793(92)80716-t
Publikováno v:
Current opinion in ophthalmology. 20(5)
Purpose of review Retinoblastoma is a pediatric eye tumor that serves as a paradigm for understanding the genetic basis of cancer. This review will highlight recent advances in retinoblastoma genetic research and discuss how these new findings influe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c88691190f4636879661a8b31f4341d
https://pubmed.ncbi.nlm.nih.gov/19587599
https://pubmed.ncbi.nlm.nih.gov/19587599
Publikováno v:
Annals of the New York Academy of Sciences. 580:120-131
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b18a2d0c73d2cad81039c6c51bca227d
https://doi.org/10.1111/j.1749-6632.1990.tb17924.x
https://doi.org/10.1111/j.1749-6632.1990.tb17924.x
Publikováno v:
Molecular pharmacology. 69(6)
The superfamily of sulfotransferase (SULT) enzymes catalyzes the sulfate conjugation of several pharmacologically important endo- and xenobiotics. SULT1A1 catalyzes the sulfation of small planar phenols such as neurotransmitters, steroid hormones, ac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c2ce40c8b0e72a0935bee15045fbbf9
https://pubmed.ncbi.nlm.nih.gov/16517757
https://pubmed.ncbi.nlm.nih.gov/16517757
Publikováno v:
Annals of the New York Academy of Sciences. 732
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffd07bbf231fe69bb7752b1ec066e55c
https://pubmed.ncbi.nlm.nih.gov/7978852
https://pubmed.ncbi.nlm.nih.gov/7978852