1st Faculty of Medicine Charles University 1st Faculty of Medicine Charles University BIOCEV
lvysa 26.03.2018

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)

2018

Marie Zikánová, Dawn Wahezi, Arielle Hay, Blanka Stibůrková, Charles Pitts, Dita Mušálková, Václava Škopová, Veronika Barešová, Olga Součková, Kateřina Hodaňová, Martina Živná, Viktor Stránecký, Hana Hartmannová, Ales Hnízda, Anthony J Bleyer, Stanislav Kmoch. Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females, Rheumatology. doi: 10.1093/rheumatology/key041. (IF 4.818) (Web) (N, I, D)

Liskova P, Dudakova L, Evans CJ, Rojas Lopez KE, Pontikos N, Athanasiou D, Jama H, Sach J, Skalicka P, Stranecky V, Kmoch S, Thaung C, Filipec M, Cheetham ME, Davidson AE, Tuft SJ, Hardcastle AJ. Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4. Am J Hum Genet. 2018 Mar 1;102(3):447-459. doi: 10.1016/j.ajhg.2018.02.002. (IF 9.025) (PubMed) (N, I, H. D)

Gstrein T, Edwards A, Přistoupilová A, Leca I, Breuss M, Pilat-Carotta S, Hansen AH, Tripathy R, Traunbauer AK, Hochstoeger T, Rosoklija G, Repic M, Landler L, Stránecký V, Dürnberger G, Keane TM, Zuber J, Adams DJ, Flint J, Honzik T, Gut M, Beltran S, Mechtler K, Sherr E, Kmoch S, Gut I, Keays DA. Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans. Nat Neurosci. 2018 Feb;21(2):207-217. doi: 10.1038/s41593-017-0053-5. (IF 17.839) (PubMed) (N, I, D)

Van den Ameele J, Jedlickova I, Pristoupilova A, Sieben A, Van Mossevelde S, Ceuterick-de Groote C, Hůlková H, Matej R, Meurs A, Van Broeckhoven C, Berkovic SF, Santens P, Kmoch S, Dermaut B. Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion. Neurology. 2018 Feb 20;90(8):e658-e663. doi: 10.1212/WNL.0000000000004999. (IF 8.320) (PubMed) (I, D)

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) (PubMed) (N, I, D)

Dudakova L, Stranecky V, Ulmanova O, Hlavova E, Trková M, Vincent AL, Liskova P. Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56*) CRYGD variant in a family with dominantly inherited congenital cataracts. Mol Biol Rep. 2017 Dec;44(6):441. doi: 10.1007/s11033-017-4121-4. (IF 1.828) (PubMed) (N, I, D)

Kim Y, Park SJ, Manson SR, Molina CA, Kidd K, Thiessen-Philbrook H, Perry RJ, Liapis H, Kmoch S, Parikh CR, Bleyer AJ, Chen YM. Elevated urinary CRELD2 is associated with endoplasmic reticulum stress-mediated kidney disease. JCI Insight. 2017 Dec 7;2(23). pii: 92896. doi: 10.1172/jci.insight.92896. (IF 12.784) (PubMed) (N, I, D)

Yu SM, Bleyer AJ, Anis K, Herlitz L, Živná M, Hůlková H, Markowitz GS, Jim B. Autosomal Dominant Tubulointerstitial Kidney Disease Due to MUC1 Mutation. Am J Kidney Dis. 2017 Dec 4. pii: S0272-6386(17)30971-X. doi: 10.1053/j.ajkd.2017.08.024. (IF 7.623) (PubMed) (N, I, D)

Mazurova S, Magner M, Kucerova-Vidrova V, Vondrackova A, Stranecky V, Pristoupilova A, Zamecnik J, Hansikova H, Zeman J, Tesarova M, Honzik T. Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature. Cardiol Young. 2017 Jul;27(5):936-944. doi: 10.1017/S1047951116001876. (IF 0.905) (PubMed) (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) (PubMed) (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)