P
Pamela J. Kaisaki
Researcher at Howard Hughes Medical Institute
Publications - 7
Citations - 1939
Pamela J. Kaisaki is an academic researcher from Howard Hughes Medical Institute. The author has contributed to research in topics: Gene & Maturity onset diabetes of the young. The author has an hindex of 6, co-authored 7 publications receiving 1864 citations.
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Journal ArticleDOI
Mutations in the hepatocyte nuclear factor-1α gene in maturity-onset diabetes of the young (MODY3)
Kazuya Yamagata,Hiroto Furuta,Naohisa Oda,Pamela J. Kaisaki,Stephan Menzel,Nancy J. Cox,Stefan S. Fajans,Stefano Signorini,Markus Stoffel,Graeme I. Bell +9 more
TL;DR: It is shown that subjects with the MODY3-form of NIDDM have mutations in the gene encoding hepatocyte nuclear factor-1α (HNF-1 α), which is encoded by the gene TCF1, which is a transcription factor that helps in the tissue-specific regulation of the expression of several liver genes.
Journal ArticleDOI
Mutations in the Hepatocyte Nuclear Factor-1α Gene in MODY and Early-Onset NIDDM: Evidence for a Mutational Hotspot in Exon 4
Pamela J. Kaisaki,Stephan Menzel,Tom H. Lindner,Naohisa Oda,I. Rjasanowski,Jürgen Sahm,Gustav Meincke,Jan Schulze,H. Schmechel,C. Petzold,Hellmuth M Ledermann,Günther Sachse,V Vicky Boriraj,Ruth Menzel,Wolfgang Kerner,Robert C Turner,Kazuya Yamagata,Graeme I. Bell +17 more
TL;DR: The exon-intron organization and partial sequence of the HNF-1α gene and its promoter region will facilitate the search for mutations in other subjects and studies of the role of the gene in determining normal β-cell function.
Journal ArticleDOI
Maturity-onset diabetes of the young due to a mutation in the hepatocyte nuclear factor-4 alpha binding site in the promoter of the hepatocyte nuclear factor-1 alpha gene.
Claudia Gragnoli,Tom H. Lindner,B. N. Cockburn,Pamela J. Kaisaki,Fabio Gragnoli,Gino Marozzi,Graeme I. Bell +6 more
TL;DR: An Italian family is reported in which an A→C substitution at nucleotide -58 of the promoter region of the HNF-1α gene cosegregates with MODY, demonstrating that decreased levels of HNF -1α per se can cause MODY.
Journal ArticleDOI
Genetic variation in the hepatocyte nuclear factor-1a gene in Danish Caucasians with late-onset NIDDM
Søren A. Urhammer,Søren K. Rasmussen,Pamela J. Kaisaki,Naohisa Oda,Kazuya Yamagata,AM Moller,Marianne Fridberg,Lars Hansen,T. Hansen,Graeme I. Bell,Oluf Pedersen +10 more
TL;DR: Genetic variation in the HNF-1α gene is not a common factor contributing to NIDDM susceptibility in white subjects of Danish ancestry, suggesting that NID DM2 and MODY3 may represent different alleles of the same gene.
Patent
Mutations in the diabetes susceptibility genes hepatocyte nuclear factor (hnf) 1 alpha (.alpha.), hnf-1.beta. and hnf-4.alpha.
Graeme I. Bell,Kazuya Yamagata,Naohisa Oda,Pamela J. Kaisaki,Hiroto Furuta,Stephan Menzel,Yukio Horikawa +6 more
TL;DR: In this article, the identification of genes responsible for NIDDM for use in diagnostics and therapeutics has been discussed, and it is shown that the MODY3 locus is, in fact, the HNF-1.alpha.