Monthly Archives: August 2012

The in vivo function of mammalian cell and tissue polarity regulators: how to shape and maintain the epidermal barrier

A10 IDEN Niessen, M.T., Iden, S., Niessen, C.M., J Cell Sci. 2012 Aug 1;125(Pt 15):3501-10. Epub 2012 Aug 30

Abstract   The establishment and maintenance of cell and tissue polarity is crucial for a range of biological processes, such as oriented division, migration,...   Read More

Molecular basis for the action of the collagen-specific chaperone Hsp47/SERPINH1 and its structure-specific client recognition

Widmer C, Gebauer JM, Brunstein E, Rosenbaum S, Zaucke F, Drögemüller C, Leeb T, Baumann U Proc. Natl. Acad. Sci. U.S.A. 2012 Aug;109(33):13243-7 PMID:...   Read More

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signalling

publicationsChaki M, Airik R, Ghosh AK, Giles RH, Chen R, Slaats GG, Wang H, Hurd TW, Zhou W, Cluckey A, Gee HY, Ramaswami G, Hong CJ, Hamilton BA, Cervenka I, Ganji RS, Bryja V, Arts HH, van Reeuwijk J, Oud MM, Letteboer SJ, Roepman R, Husson H, Ibraghimov-Beskrovnaya O, Yasunaga T, Walz G, Eley L, Sayer JA, Schermer B, Liebau MC, Benzing T, Le Corre S, Drummond I, Janssen S, Allen SJ, Natarajan S, O'Toole JF, Attanasio M, Saunier S, Antignac C, Koenekoop RK, Ren H, Lopez I, Nayir A, Stoetzel C, Dollfus H, Massoudi R, Gleeson JG, Andreoli SP, Doherty DG, Lindstrad A, Golzio C, Katsanis N, Pape L, Abboud EB, Al-Rajhi AA, Lewis RA, Omran H, Lee EY, Wang S, Sekiguchi JM, Saunders R, Johnson CA, Garner E, Vanselow K, Andersen JS, Shlomai J, Nurnberg G, Nurnberg P, Levy S, Smogorzewska A, Otto EA, Hildebrandt F., Cell. 2012 Aug 3;150(3):533-48. doi: 10.1016/j.cell.2012.06.028.

Abstract Nephronophthisis-related ciliopathies (NPHP-RC) are degenerative recessive diseases that affect kidney, retina, and brain. Genetic defects in NPHP gene products that localize to cilia...   Read More

A Mutation in the 5?-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus

A10 IDENSemler O, Garbes L, Keupp K, Swan D, Zimmermann K, Becker J, Iden S, Wirth B, Eysel P, Koerber F, Schoenau E, Bohlander SK, Wollnik B, Netzer C; The American Journal of Human Genetics 2012 Aug; 10;91(2):349-57. doi: 10.1016/j.ajhg.2012.06.011. Epub 2012 Aug 2.

Abstract Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disorder associated with bone fragility and susceptibility to fractures after minimal trauma. OI type...   Read More

The in vivo function of mammalian cell and tissue polarity regulators–how to shape and maintain the epidermal barrier

A1 NIESSEN Niessen MT, Iden S, Niessen CM, J Cell Sci. 2012 Aug 1;125(Pt 15):3501-10. Epub 2012 Aug 30.

Abstract The establishment and maintenance of cell and tissue polarity is crucial for a range of biological processes, such as oriented division, migration, adhesion...   Read More

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