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Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
Nat Genet. 2010 Nov;42(11):1021-6. doi: 10.1038/ng.677. Epub 2010 Oct 3.
Nat Genet. 2010.
PMID: 20890276
A severe form of the X-linked microphthalmia with linear skin defects syndrome in a female newborn.
Steichen-Gersdorf E, Griesmaier E, Pientka FK, Kotzot D, Kutsche K.
Steichen-Gersdorf E, et al. Among authors: pientka fk.
Clin Dysmorphol. 2010 Apr;19(2):82-84. doi: 10.1097/MCD.0b013e32833593b7.
Clin Dysmorphol. 2010.
PMID: 20179582
No abstract available.
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Oxygen sensing by the prolyl-4-hydroxylase PHD2 within the nuclear compartment and the influence of compartmentalisation on HIF-1 signalling.
Pientka FK, Hu J, Schindler SG, Brix B, Thiel A, Jöhren O, Fandrey J, Berchner-Pfannschmidt U, Depping R.
Pientka FK, et al.
J Cell Sci. 2012 Nov 1;125(Pt 21):5168-76. doi: 10.1242/jcs.109041. Epub 2012 Sep 3.
J Cell Sci. 2012.
PMID: 22946054
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Exploring the link between MORF4L1 and risk of breast cancer.
Martrat G, Maxwell CM, Tominaga E, Porta-de-la-Riva M, Bonifaci N, Gómez-Baldó L, Bogliolo M, Lázaro C, Blanco I, Brunet J, Aguilar H, Fernández-Rodríguez J, Seal S, Renwick A, Rahman N, Kühl J, Neveling K, Schindler D, Ramírez MJ, Castellà M, Hernández G; EMBRACE; Easton DF, Peock S, Cook M, Oliver CT, Frost D, Platte R, Evans DG, Lalloo F, Eeles R, Izatt L, Chu C, Davidson R, Ong KR, Cook J, Douglas F, Hodgson S, Brewer C, Morrison PJ, Porteous M, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Roversi G, Barile M, Viel A, Pasini B, Ottini L, Putignano AL, Savarese A, Bernard L, Radice P, Healey S, Spurdle A, Chen X, Beesley J; kConFab; Rookus MA, Verhoef S, Tilanus-Linthorst MA, Vreeswijk MP, Asperen CJ, Bodmer D, Ausems MG, van Os TA, Blok MJ, Meijers-Heijboer HE, Hogervorst FB; HEBON; Goldgar DE, Buys S, John EM, Miron A, Southey M, Daly MB; BCFR; SWE-BRCA; Harbst K, Borg A, Rantala J, Barbany-Bustinza G, Ehrencrona H, Stenmark-Askmalm M, Kaufman B, Laitman Y, Milgrom R, Friedman E, Domchek SM, Nathanson KL, Rebbeck TR, Johannsson OT, Couch FJ, Wang X, Fredericksen Z, Cuadras D, Moreno V, Pientka FK, Depping R, Caldés T, Osorio A, Benítez J, Bueren J, Heikkinen T, N…
See abstract for full author list ➔
Martrat G, et al. Among authors: pientka fk.
Breast Cancer Res. 2011 Apr 5;13(2):R40. doi: 10.1186/bcr2862.
Breast Cancer Res. 2011.
PMID: 21466675
Free PMC article.
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Cellular oxygen sensing: Importins and exportins are mediators of intracellular localisation of prolyl-4-hydroxylases PHD1 and PHD2.
Steinhoff A, Pientka FK, Möckel S, Kettelhake A, Hartmann E, Köhler M, Depping R.
Steinhoff A, et al. Among authors: pientka fk.
Biochem Biophys Res Commun. 2009 Oct 2;387(4):705-11. doi: 10.1016/j.bbrc.2009.07.090. Epub 2009 Jul 23.
Biochem Biophys Res Commun. 2009.
PMID: 19631610
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