Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Timothy D. Connors"'
Publikováno v:
Journal of Biological Chemistry. 276:18597-18604
The 2.5-kilobase pair poly(purine.pyrimidine) (poly(R.Y)) tract present in intron 21 of the polycystic kidney disease 1 (PKD1) gene has been proposed to contribute to the high mutation frequency of the gene. To evaluate this hypothesis, we investigat
Autor:
Heather W. Pinkett, Christopher L. Graham, Matthew I. Quesenberry, Katherine W. Klinger, Raman Sood, John D. Carpten, Timothy D. Connors, Jeffrey M. Trent, Andreas D. Baxevanis, Christiane M. Robbins, Kui Su, Izabela Makalowska, Tom I. Bonner, Sharon D. Morgenbesser, Dietrich A. Stephan
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression. 1491:285-288
Ral GDP dissociation stimulator (RalGDS) and its family members RGL, RLF and RGL2 are involved in Ras and Ral signaling pathways as downstream effector proteins. Here we report the precise localization and cloning of two forms of human RGL gene diffe
Autor:
Katherine W. Klinger, N Coleman, L Foggensteiner, Timothy C. Burn, Gregory M. Landes, Sathia Thiru, Terry Watnick, Linda R. Petry, Gregory G. Germino, Timothy D. Connors, R M Hakim, T J Van Raay, Klaus Piontek, Oxana Ibraghimov-Beskrovnaya, R Sandford, Feng Qian, William R. Dackowski, John Bradley, Luiz F. Onuchic
Publikováno v:
Proceedings of the National Academy of Sciences. 94:6397-6402
The primary structure of polycystin predicts a large integral membrane protein with multiple cell recognition motifs, but its function remains unknown. Insight into polycystin’s normal function and its role in the development of autosomal dominant
Autor:
Linda R. Petry, Timothy C. Burn, Terence J. Van Raay, Timothy D. Connors, Gregory M. Landes, Katherine W. Klinger
Publikováno v:
Genomics. 39:231-234
The ATP binding cassette (ABC) transporters, or traffic ATPases, constitute a large family of proteins responsible for the transport of a wide variety of substrates across cell membranes in both prokaryotic and eukaryotic cells. We describe a human A
Autor:
Terence J. Van Raay, Timothy D. Connors, Katherine W. Klinger, Gregory M. Landes, Timothy C. Burn
Publikováno v:
Genomics. 37:172-176
A full-length cDNA encoding a novel ribosomal protein L3 gene was isolated and sequenced. The deduced protein sequence is 407 amino acids long and shows 77% identity to other known mammalian ribosomal protein L3 genes, which are themselves highly con
Autor:
K W Klinger, Gregory M. Landes, Timothy D. Connors, Timothy C. Burn, William R. Dackowski, T J Van Raay, J. M. Millholland
Publikováno v:
Genome Research. 6:525-537
A 700-kb region of DNA in human chromosome 16p13.3 has been shown to contain the polycystic kidney disease 1 (PKD1) and the tuberous sclerosis type 2 (TSC2) disease genes. An estimated 20 genes are present in this region of chromosome 16. We have ini
Autor:
Peter J. Schwartz, T. De Jager, Mark E. Curran, M T Keating, J.A. Towbin, J. M. Millholland, Gregory M. Landes, Igor Splawski, Katherine W. Timothy, T. J. VanRaay, Donald L. Atkinson, Timothy C. Burn, Timothy D. Connors, Qing Wang, Vincent Gm, Jiaxiang Shen, Arthur J. Moss
Publikováno v:
Nature Genetics. 12:17-23
Genetic factors contribute to the risk of sudden death from cardiac arrhythmias. Here, positional cloning methods establish KVLQT1 as the chromosome 11-linked LQT1 gene responsible for the most common inherited cardiac arrhythmia. KVLQT1 is strongly
Autor:
Linda R. Petry, G.G. Germino, T J Van Raay, Timothy D. Connors, K W Klinger, Timothy C. Burn, Gregory M. Landes
Publikováno v:
Genome Science and Technology. 1:317-327
A pyrimidine-rich element (PyRE), present in the 21st intron of the PKD1 gene, posed a significant obstacle in determining the primary structure of the gene. Only cycle sequencing of nested, single-stranded phage templates of the CT-rich strand enabl
Autor:
Rebecca G. Bagley, Evis Havari, Stephen L. Madden, Rajashree McLaren, William Weber, Tri-Hung Nguyen, Timothy D. Connors, Johanne Kaplan, Bruce L. Roberts, Beverly A. Teicher, Prashant R. Nambiar, Srinivas Shankara
Publikováno v:
International Journal of Oncology
Overexpression of TMPRSS4, a cell surface-associated transmembrane serine protease, has been reported in pancreatic, colorectal and thyroid cancers, and has been implicated in tumor cell migration and metastasis. Few reports have investigated both TM
Autor:
P. Meltzer, A. M. De Marzo, Robert B. Jenkins, Ping Hu, Raman Sood, Katherine W. Klinger, Piroska Bujnovszky, Robert H. Silverman, Nina N. Nupponen, Galen Hostetter, Kathy E. Wiley, Tracy Moses, Joan E. Bailey-Wilson, Jeffrey R. Smith, Patrick C. Walsh, Johanna Schleutker, Deborah A. Meyers, Izabela Makalowska, Agnes Baffoe-Bonnie, Sarah D. Isaacs, E. Gillanders, Henrik Grönberg, Robert D. Burk, John D. Carpten, Jeffrey M. Trent, Ying Xiang, Dennis A. Faith, Christiane M. Robbins, Derek Gildea, Timothy D. Connors, Dietrich A. Stephan, W. Isaacs, Mike Brownstein, Mezbah U. Faruque, Zhaocheng Wang, Nickolas Papadopoulos, Brian Kelly, Mika P. Matikainen, Jianfeng Xu, O. P. Kallioniemi, Charles M. Ewing
Publikováno v:
Nature genetics. 30(2)
Although prostate cancer is the most common non-cutaneous malignancy diagnosed in men in the United States1,2, little is known about inherited factors that influence its genetic predisposition3,4,5. Here we report that germline mutations in the gene