1st Faculty of Medicine Charles University 1st Faculty of Medicine Charles University BIOCEV
lvysa 29.05.2017

Kmoch/Zikánová Lab

Publications (dedicated to NPU=N or Biocev=B, international collaboration=I, collaboration with hospital=H, from group in Inst.131/from Detached group)

2017

Autosomal Dominant Tubulointerstitial Kidney Disease. Bleyer AJ, Kidd K, Zivna M, Kmoch S. Adv Chronic Kidney Dis. 2017 Mar;24(2):86-93.
doi: 10.1053/j.ackd.2016.11.012. (IF 2.703) [placený přístup] (N, I, D)

2016

Baresova V, Krijt M, Skopova V, Souckova O, Kmoch S, Zikanova M, CRISPR-Cas9 induced mutations along de novo purine synthesis in HeLa cells result in accumulation of individual enzyme substrates and affect purinosome formation. Mol Genet Metab. 2016; doi: 10.1016/j.ymgme.2016.08.004 (IF 3,073) [PDF] (B, N, H, D)

BOLAR, N. A., GOLZIO, C., ZIVNA, M., HAYOT, G., VAN HEMELRIJK, C., SCHEPERS, D., VANDEWEYER, G., HOISCHEN, A., HUYGHE, J. R., RAES, A., MATTHYS, E., SYS, E., AZOU, M., GUBLER, M. C., PRAET, M., VAN CAMP, G., MCFADDEN, K., PEDIADITAKIS, I., PRISTOUPILOVA, A., HODANOVA, K., VYLETAL, P., HARTMANNOVA, H., STRANECKY, V., HULKOVA, H., BARESOVA, V., JEDLICKOVA, I., SOVOVA, J., HNIZDA, A., KIDD, K., BLEYER, A. J., SPONG, R. S., VANDE WALLE, J., MORTIER, G., BRUNNER, H., VAN LAER, L., KMOCH, S., KATSANIS, N., LOEYS (2016) B. L. Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia., Am J Hum Genet 99(1): 174-187. (IF 10,794) [PDF] (N, I, D)

NG, Y. S., ALSTON, C. L., DIODATO, D., MORRIS, A. A., ULRICK, N., KMOCH, S., HOUSTEK, J., MARTINELLI, D., HAGHIGHI, A., ATIQ, M., GAMERO, M. A., GARCIA-MARTINEZ, E., KRATOCHVILOVA, H., SANTRA, S., BROWN, R. M., BROWN, G. K., RAGGE, N., MONAVARI, A., PYSDEN, K., RAVN, K., CASEY, J. P., KHAN, A., CHAKRAPANI, A., VASSALLO, G., SIMONS, C., MCKEEVER, K., O'SULLIVAN, S., CHILDS, A. M., OSTERGAARD, E., VANDERVER, A., GOLDSTEIN, A., VOGT, J., TAYLOR, R. W., MCFARLAND, R. (2016) The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease., J Med Genet. DOI jmedgenet-2016-103910. (IF 5,650) [PDF] (B, I, D)

BERKOVIC, S. F., STAROPOLI, J. F., CARPENTER, S., OLIVER, K. L., KMOCH, S., ANDERSON, G. W., DAMIANO, J. A., HILDEBRAND, M. S., SIMS, K. B., COTMAN, S. L., BAHLO, M., SMITH, K. R., CADIEUX-DION, M., COSSETTE, P., JEDLICKOVA, I., PRISTOUPILOVA, A., MOLE, S. E. (2016) Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease). Neurology. DOI 10.1212/WNL.0000000000002943. (IF 8,166) [placený přístup] (N, I, D)

H. Hartmannova, L. Piherova, K. Tauchmannova, K. Kidd, P.D. Acott, J.F.Crocker, Y. Oussedik, M. Mallet, K. Hodanova, V. STRANECKY, A.PRISTOUPILOVA, V. Baresova, I. Jedlickova, M. Zivna, J. Sovova, H. Hulkova, V. Robins, M. Vrbacky, P. Pecina, V. Kaplanova, J. Houstek, T. Mracek, Y. Thibeault, A.J. Bleyer, S. KMOCH Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6 Hum Mol Genet (2016). DOI: 10.1093/hmg/ddw245 (IF 5,985) [PDF]  (B, N, I, D)

Lhota F., Zemankova P., Kleiblova P., Soukupova J., Vocka M.,Stranecky V., Janatova M., Hartmannova H., Hodanova K., Kmoch S., Kleibl Z.; Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2- negatively tested breast cancer patients. Clin Genet 2016. DOI: 10.1111/cge.12748. (IF 3.892) [PDF] (B, D)

Alice E. Davidson, Petra Liskova, Cerys J. Evans, Lubica Dudakova, Lenka Nosková, Nikolas Pontikos, Hana Hartmannova, Kateřina Hodaňová, Viktor Stránecký, Zbyněk Kozmík, Hannah J. Levis, Nwamaka Idigo, Noriaki Sasai, Geoffrey J. Maher, James Bellingham, Neyme Veli, Neil D. Ebenezer, Michael E. Cheetham, Julie T. Daniels, Caroline M.H. Thaung, Katerina Jirsova, Vincent Plagnol, Martin Filipec, Stanislav Kmoch, Stephen J. Tuft, and Alison J. Hardcastle. Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2. The American Journal of Human Genetics 98, 75-89, January 7, 2016. (IF 10.794) [PDF] (B, I, H, D)

BLEYER, A. J., KMOCH, S. (2016) Tamm Horsfall Glycoprotein and Uromodulin: It Is All about the Tubules! Clin J Am Soc Nephrol 11: 6-8.DOI 10.2215/CJN.12201115 (IF 4,657) [PDF] (B, I, D)