Search Results - "CARPTEN, J. D."

Uterine tumours are a phenotypic manifestation of the hyperparathyroidism‐jaw tumour syndrome by BRADLEY, K. J., HOBBS, M. R., BULEY, I. D., CARPTEN, J. D., CAVACO, B. M., FARES, J. E., LAIDLER, P., MANEK, S., ROBBINS, C. M., SALTI, I. S., THOMPSON, N. W., JACKSON, C. E., THAKKER, R. V.

“… The hyperparathyroidism‐jaw tumour (HPT‐JT) syndrome is an autosomal dominant disorder characterized by parathyroid tumours, which are frequently carcinomas,…”
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Hyperparathyroidism‐jaw tumour syndrome by Chen, J. D., Morrison, C., Zhang, C., Kahnoski, K., Carpten, J. D., Teh, B. T.

“…  Chen JD, Morrison C, Zhang C, Kahnoski K, Carpten JD, Teh BT (Van Andel Research Institute, Grand Rapids, MI; Ohio State University Comprehensive Cancer…”
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Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP) by Villablanca, A, Calender, A, Forsberg, L, Höög, A, Cheng, J-D, Petillo, D, Bauters, C, Kahnoski, K, Ebeling, T, Salmela, P, Richardson, A-L, Delbridge, L, Meyrier, A, Proye, C, Carpten, J D, Teh, B T, Robinson, B G, Larsson, C

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Linkage and Association Studies of Prostate Cancer Susceptibility: Evidence for Linkage at 8p22-23 by Xu, Jianfeng, Zheng, Siqun L., Hawkins, Gregory A., Faith, Dennis A., Kelly, Brian, Isaacs, Sarah D., Wiley, Kathleen E., Chang, Bao-li, Ewing, Charles M., Bujnovszky, Piroska, Carpten, John D., Bleecker, Eugene R., Walsh, Patrick C., Trent, Jeffrey M., Meyers, Deborah A., Isaacs, William B.

“…Multiple lines of evidence have implicated the short arm of chromosome 8 as harboring genes important in prostate carcinogenesis. Although most of this…”
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Hypodiploid multiple myeloma is characterized by more aggressive molecular markers than non-hyperdiploid multiple myeloma by Van Wier, Scott, Braggio, Esteban, Baker, Angela, Ahmann, Gregory, Levy, Joan, Carpten, John D, Fonseca, Rafael

“…Multiple myeloma can be categorized into hyperdiploid or non-hyperdiploid myeloma based on the number of chromosomes found in the tumor clone. Among the…”
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Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees by Lee, M H, Hazard, S, Carpten, J D, Yi, S, Cohen, J, Gerhardt, G T, Salen, G, Patel, S B

“…Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid biosynthesis. Clinically, CTX patients present with tendon xanthomas,…”
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Linkage Analyses at the Chromosome 1 Loci 1q24-25 (HPC1), 1q42.2-43 (PCAP), and 1p36 (CAPB) in Families with Hereditary Prostate Cancer by Berry, Rebecca, Schaid, Daniel J., Smith, Jeffrey R., French, Amy J., Schroeder, Jennifer J., McDonnell, Shannon K., Peterson, Brett J., Wang, Zheng-Yuan, Carpten, John D., Roberts, Steven G., Tester, David J., Blute, Michael L., Trent, Jeffrey M., Thibodeau, Stephen N.

“…Recent studies suggest that hereditary prostate cancer (PRCA) is a complex disease, involving multiple susceptibility genes and variable phenotypic expression…”
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Linkage of prostate cancer susceptibility loci to chromosome 1 by JIANFENG XU, ZHENG, Siqun L, BUJNOVSZKY, Piroska, BLEEKER, Eugene R, WALSH, Patrick C, TRENT, Jeffrey M, MEYERS, Deborah A, ISAACS, William B, CHANG, Bao-Li, SMITH, Jeffrey R, CARPTEN, John D, STINE, O. Colin, ISAACS, Sarah D, WILEY, Kathy E, HENNING, Lauren, EWING, Charles

“…Three prostate cancer susceptibility genes have been reported to be linked to different regions on chromosome 1: HPC1 at 1q24-25, PCAP at 1q42-43, and CAPB at…”
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Somatic and Germ-Line Mutations of the HRPT2 Gene in Sporadic Parathyroid Carcinoma by Shattuck, Trisha M, Välimäki, Stiina, Obara, Takao, Gaz, Randall D, Clark, Orlo H, Shoback, Dolores, Wierman, Margaret E, Tojo, Katsuyoshi, Robbins, Christiane M, Carpten, John D, Farnebo, Lars-Ove, Larsson, Catharina, Arnold, Andrew

“…Because mutations in the parafibromin gene ( HRPT2 ) occur in a familial syndrome characterized by susceptibility to parathyroid carcinoma, such mutations were…”
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Early age at diagnosis in families providing evidence of linkage to the hereditary prostate cancer locus (HPC1) on chromosome 1 by GRÖNBERG, H, XU, J, MEYERS, D. A, ISAACS, W. B, SMITH, J. R, CARPTEN, J. D, ISAACS, S. D, FREIJE, D, BOVA, G. S, WALSH, P. C, COLLINS, F. S, TRENT, J. M

“…In a recent study of 91 families having at least three first degree relatives with prostate cancer, we reported the localization of a major susceptibility…”
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Approach to genotyping errors caused by nontemplated nucleotide addition by Taq DNA polymerase by Smith, J R, Carpten, J D, Brownstein, M J, Ghosh, S, Magnuson, V L, Gilbert, D A, Trent, J M, Collins, F S

“…Thermostable DNA polymerases can catalyze nontemplated addition of a nucleotide to the 3' end of amplification products. This presents a potential source of…”
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A common nonsense mutation in EphB2 is associated with prostate cancer risk in African American men with a positive family history by Kittles, R A, Baffoe-Bonnie, A B, Moses, T Y, Robbins, C M, Ahaghotu, C, Huusko, P, Pettaway, C, Vijayakumar, S, Bennett, J, Hoke, G, Mason, T, Weinrich, S, Trent, J M, Collins, F S, Mousses, S, Bailey-Wilson, J, Furbert-Harris, P, Dunston, G, Powell, I J, Carpten, J D

“…Background: The EphB2 gene was recently implicated as a prostate cancer (PC) tumour suppressor gene, with somatic inactivating mutations occurring in ∼10% of…”
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RNASEL Arg462Gln variant is implicated in up to 13% of prostate cancer cases by Casey, Graham, Witte, John S, Neville, Phillippa J, Plummer, Sarah J, Xiang, Ying, Krumroy, Lisa M, Klein, Eric A, Catalona, William J, Nupponen, Nina, Carpten, John D, Trent, Jeffrey M, Silverman, Robert H

“…RNASEL (encoding ribonuclease L) has recently been proposed as a candidate for the hereditary prostate cancer (HPC1) gene. We determined that the RNASEL…”
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The secreted glycoprotein lubricin protects cartilage surfaces and inhibits synovial cell overgrowth by Rhee, David K, Marcelino, Jose, Baker, MacArthur, Gong, Yaoqin, Smits, Patrick, Lefebvre, Véronique, Jay, Gregory D, Stewart, Matthew, Wang, Hongwei, Warman, Matthew L, Carpten, John D

“…The long-term integrity of an articulating joint is dependent upon the nourishment of its cartilage component and the protection of the cartilage surface from…”
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Effects of RNase L mutations associated with prostate cancer on apoptosis induced by 2', 5'-oligoadenylates by YING XIANG, ZHENGFU WANG, MURAKAMI, Junko, PLUMMER, Sarah, KLEIN, Eric A, CARPTEN, John D, TRENT, Jeffrey M, ISAACS, William B, CASEY, Graham, SILVERMAN, Robert H

“…The RNASEL gene, a strong candidate for the hereditary prostate cancer 1 allele (HPC1), encodes a single-stranded specific endoribonuclease involved in the…”
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Modulation of non-templated nucleotide addition by Taq DNA polymerase: primer modifications that facilitate genotyping by Brownstein, M J, Carpten, J D, Smith, J R

“…Taq DNA polymerase can catalyze non-templated addition of a nucleotide (principally adenosine) to the 3' end of PCR-amplified products. Recently, we showed…”
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A 6-Mb High-Resolution Physical and Transcription Map Encompassing the Hereditary Prostate Cancer 1 (HPC1) Region by Carpten, John D., Makalowska, Izabella, Robbins, Christiane M., Scott, Nyasha, Sood, Raman, Connors, Tim D., Bonner, Tom I., Smith, Jeffrey R., Faruque, Mezbah U., Stephan, Dietrich A., Pinkett, Heather, Morgenbesser, Sharon D., Su, Kui, Graham, Chris, Gregory, Simon G., Williams, Hawys, McDonald, Louise, Baxevanis, Andreas D., Klingler, Kathy W., Landes, Greg M., Trent, Jeffrey M.

“…Several hereditary disease loci have been genetically mapped to the chromosome 1q24–q31 interval, including the hereditary prostate cancer 1 (HPC1) locus…”
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A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene by Burghes, A H, Ingraham, S E, McLean, M, Thompson, T G, McPherson, J D, Kote-Jarai, Z, Carpten, J D, DiDonato, C J, Ikeda, J E, Surh, L

“…Spinal muscular atrophy (SMA) is a common autosomal recessive disorder resulting in loss of motor neurons. The interval containing the SMA gene has been…”
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Refined physical map of the spinal muscular atrophy gene (SMA) region at 5q13 based on YAC and cosmid contiguous arrays by Roy, Natalie, Mclean, Michael D., Besner-Johnston, Anne, Lefebvre, Charles, Salih, Maysoon, Carpten, John D., Burghes, Arthur H.M., Yaraghi, Zahra, Ikeda, Joh-E, Korneluk, Robert G., Mackenzie, Alexander E.

“…The gene for the autosomal recessive neurodegenerative disorder spinal muscular atrophy has been mapped to a region of 5q13 flanked proximally by CMS-1 and…”
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Joint effect of HSD3B1 and HSD3B2 genes is associated with hereditary and sporadic prostate cancer susceptibility by CHANG, Bao-Li, ZHENG, Siqun L, MEYERS, Deborah A, ISAACS, William B, JIANFENG XU, HAWKINS, Gregory A, ISAACS, Sarah D, WILEY, Kathy E, TURNER, Aubrey, CARPTEN, John D, BLEECKER, Eugene R, WALSH, Patrick C, TRENT, Jeffrey M

“…3beta-hydroxysteroid dehydrogenases (HSD3Bs), encoded by the HSD3B gene family at 1p13, have long been hypothesized to have a major role in prostate cancer…”
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