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Sökning: WFRF:(Rosen IB)

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1.
  • Carpten, JD, et al. (författare)
  • HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome
  • 2002
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 32:4, s. 676-680
  • Tidskriftsartikel (refereegranskat)abstract
    • We report here the identification of a gene associated with the hyperparathyroidism-jaw tumor (HPT-JT) syndrome. A single locus associated with HPT-JT (HRPT2) was previously mapped to chromosomal region 1q25-q32. We refined this region to a critical interval of 12 cM by genotyping in 26 affected kindreds. Using a positional candidate approach, we identified thirteen different heterozygous, germline, inactivating mutations in a single gene in fourteen families with HPT-JT. The proposed role of HRPT2 as a tumor suppressor was supported by mutation screening in 48 parathyroid adenomas with cystic features, which identified three somatic inactivating mutations, all located in exon 1. None of these mutations were detected in normal controls, and all were predicted to cause deficient or impaired protein function. HRPT2 is a ubiquitously expressed, evolutionarily conserved gene encoding a predicted protein of 531 amino acids, for which we propose the name parafibromin. Our findings suggest that HRPT2 is a tumor-suppressor gene, the inactivation of which is directly involved in predisposition to HPT-JT and in development of some sporadic parathyroid tumors.
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4.
  • Yoo, CK, et al. (författare)
  • Application of fuzzy partial least squares (FPLS) modeling nonlinear biological processes
  • 2004
  • Ingår i: Korean Journal of Chemical Engineering. - 0256-1115. ; 21:6, s. 1087-1097
  • Tidskriftsartikel (refereegranskat)abstract
    • We applied a nonlinear fuzzy partial least squares (FPLS) algorithm for modeling a biological wastewater treatment plant. FPLS embeds the Takagi-Sugeno-Kang (TSK) fuzzy model into the regression framework of the partial least squares (PLS) method, in which FPLS utilizes a TSK fuzzy model for nonlinear characteristics of the PLS inner regression. Using this approach, the interpretability of the TSK fuzzy model overcomes some of the handicaps of previous nonlinear PLS (NLPLS) algorithms. As a result, the FPLS model gives a more favorable modeling environment in which the knowledge of experts can be easily applied. Results from applications show that FPLS has the ability to model the nonlinear process and multiple operating conditions and is able to identify various operating regions in a simulation benchmark of biological process as well as in a full-scale wastewater treatment process. The result shows that it has the ability to model the nonlinear process and handle multiple operating conditions and is able to predict the key components of nonlinear biological processes.
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5.
  • 2021
  • swepub:Mat__t
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