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Search results (19)

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Crystal Structure of the Cohesin Gatekeeper Pds5 and in Complex with Kleisin Scc1.

Lee B-G. et al, (2016), Cell Rep, 14, 2108 - 2115

Releasing Activity Disengages Cohesin's Smc3/Scc1 Interface in a Process Blocked by Acetylation.

Beckouët F. et al, (2016), Mol Cell, 61, 563 - 574

De novo mutation in DMD gene in a patient with combined hemophilia A and Duchenne muscular dystrophy.

Strmecki L. et al, (2014), Int J Hematol, 99, 184 - 187

De novo mutation in DMD gene in a patient with combined hemophilia A and Duchenne muscular dystrophy

Strmecki L. et al, (2014), International Journal of Hematology, 99, 184 - 187

A positively charged channel within the Smc1/Smc3 hinge required for sister chromatid cohesion.

Kurze A. et al, (2011), EMBO J, 30, 364 - 378

A positively charged channel within the Smc1/Smc3 hinge required for sister chromatid cohesion

Kurze A. et al, (2011), EMBO Journal, 30, 364 - 378

Proteomic and microarray analyses of the Dictyostelium Zak1-GSK-3 signaling pathway reveal a role in early development.

Strmecki L. et al, (2007), Eukaryot Cell, 6, 245 - 252

PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.

Vouk K. et al, (2006), BMC Med Genet, 7

Developmental decisions in Dictyostelium discoideum.

Strmecki L. et al, (2005), Dev Biol, 284, 25 - 36

Haemophilia A and mucopolysaccharidosis I-H (Hurler Syndrome): a case report.

Benedik-Dolnicar M. et al, (2002), Haematologica, 87

The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease.

Rossetti S. et al, (2002), J Am Soc Nephrol, 13, 1230 - 1237

Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.

Rossetti S. et al, (2001), Am J Hum Genet, 68, 46 - 63

A human PKD1 transgene generates functional polycystin-1 in mice and is associated with a cystic phenotype.

Pritchard L. et al, (2000), Hum Mol Genet, 9, 2617 - 2627

Mutational analysis of 30 Slovenian cystic fibrosis patients compared to known Slovenian and European CF mutation spectra.

Vouk K. et al, (2000), Pflugers Arch, 439, R63 - R65

Mutational analysis of 30 Slovenian cystic fibrosis patients compared to known Slovenian and European CF mutation spectra.

Vouk K. et al, (2000), Pflugers Arch, 439, R63 - R65

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