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Items: 6

1.
P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye
Yaqun Zou, Sandra Donkervoort, Antti M. Salo, A. Reghan Foley, Aileen M. Barnes, Ying Hu, Elena Makareeva, Meganne E. Leach, Payam Mohassel, Jahannaz Dastgir, Matthew A. Deardorff, Ronald D. Cohn, Wendy O. DiNonno, Fransiska Malfait, Monkol Lek, Sergey Leikin, Joan C. Marini, Johanna Myllyharju, Carsten G. Bönnemann
Hum Mol Genet. 2017 Jun 15; 26(12): 2207–2217. Published online 2017 Apr 13. doi: 10.1093/hmg/ddx110
PMCID:
PMC6075373
ArticlePDF–910K
2.
Prolyl 4-hydroxylation regulates Argonaute 2 stability
Hank H. Qi, Pat P. Ongusaha, Johanna Myllyharju, Dongmei Cheng, Outi Pakkanen, Yujiang Shi, Sam W. Lee, Junmin Peng, Yang Shi
Nature. Author manuscript; available in PMC 2009 Mar 27.
Published in final edited form as: Nature. 2008 Sep 18; 455(7211): 421–424. Published online 2008 Aug 6. doi: 10.1038/nature07186
PMCID:
PMC2661850
ArticlePDF–628K
3.
Assignment of the gene coding for the alpha-subunit of prolyl 4-hydroxylase to human chromosome region 10q21.3-23.1.
L Pajunen, T A Jones, T Helaakoski, T Pihlajaniemi, E Solomon, D Sheer, K I Kivirikko
Am J Hum Genet. 1989 Dec; 45(6): 829–834.
PMCID:
PMC1683466
ArticlePDF–1.1M
4.
Molecular cloning of the alpha-subunit of human prolyl 4-hydroxylase: the complete cDNA-derived amino acid sequence and evidence for alternative splicing of RNA transcripts.
T Helaakoski, K Vuori, R Myllylä, K I Kivirikko, T Pihlajaniemi
Proc Natl Acad Sci U S A. 1989 Jun; 86(12): 4392–4396. doi: 10.1073/pnas.86.12.4392
PMCID:
PMC287275
ArticlePDF–1.1M
5.
Cloning, baculovirus expression, and characterization of a second mouse prolyl 4-hydroxylase alpha-subunit isoform: formation of an alpha 2 beta 2 tetramer with the protein disulfide-isomerase/beta subunit.
T Helaakoski, P Annunen, K Vuori, I A MacNeil, T Pihlajaniemi, K I Kivirikko
Proc Natl Acad Sci U S A. 1995 May 9; 92(10): 4427–4431. doi: 10.1073/pnas.92.10.4427
PMCID:
PMC41957
ArticlePDF–1.8M
6.
Prolyl 4-hydroxylase is required for viability and morphogenesis in Caenorhabditis elegans
Lisa Friedman, Joshua J. Higgin, Gary Moulder, Robert Barstead, Ronald T. Raines, Judith Kimble
Proc Natl Acad Sci U S A. 2000 Apr 25; 97(9): 4736–4741. doi: 10.1073/pnas.97.9.4736
PMCID:
PMC18302
ArticlePDF–576K

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