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

2020

Mazzarino RC, Baresova V, Zikánová M, Duval N, Wilkinson TG 2nd, Patterson D, Vacano GN. The CRISPR-Cas9 crATIC HeLa transcriptome: Characterization of a novel cellular model of ATIC deficiency and ZMP accumulation. Mol Genet Metab Rep. 2020 Sep 2;25:100642. doi: 10.1016/j.ymgmr.2020.100642. PMID: 32939338; PMCID: PMC7479443. (IF 2.022) [PubMed] (I, N)

Jedlickova I, Pristoupilova A, Noskova L, Majer F, Stranecky V, Hartmannova H, Hodanova K, Treslova H, Hyblova M, Solar P, Minarik G, Giertlova M, Kmoch S. Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing. Mol Genet Genomic Med. 2020;8(7):e1238. doi:10.1002/mgg3.1238. (IF 1.995) [Pubmed] (N)

Majer F, Kousal B, Dusek P, Piherova L, Reboun M, Mihalova R, Gurka J, Krebsova A, Vlasakova H, Dvorakova L, Krihova J, Liskova P, Kmoch S, Kalina T, Kubanek M, Sikora J. Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient. Am J Med Genet A. 2020;182(1):219-223. doi:10.1002/ajmg.a.61416. (IF 2.197) [Pubmed] (N)

2019

Devuyst O, Olinger E, Weber S, Eckardt KU, Kmoch S, Rampoldi L, Bleyer AJ. Autosomal dominant tubulointerstitial kidney disease. Nat Rev Dis Primers. 2019 Sep 5;5(1):60. doi: 10.1038/s41572-019-0109-9.(IF 32.274) [PubMed] (N, I)

Bleyer AJ, Kidd K, Johnson E, Robins V, Martin L, Taylor A, Pinder AJ, Bowline I, Frankova V, Živná M, Taylor KB, Kim N, Baek JJ, Hartmannová H, Hodaňová K, Vyleťal P, Votruba M, Kmoch S. Quality of life in patients with autosomal dominant tubulointerstitial kidney disease . Clin Nephrol. 2019 Dec;92(6):302-311. doi: 10.5414/CN109842.(IF 1.079) [PubMed] (N, I)

Zurlo G, Liu X, Takada M, Fan C, Simon JM, Ptacek TS, Rodriguez J, von Kriegsheim A, Liu J, Locasale JW, Robinson A, Zhang J, Holler JM, Kim B, Zikánová M, Bierau J, Xie L, Chen X, Li M, Perou CM, Zhang Q. Prolyl hydroxylase substrate adenylosuccinate lyase is an oncogenic driver in triple negative breast cancer. Nat Commun. 2019 Nov 15;10(1):5177. doi: 10.1038/s41467-019-13168-4. (IF 11.878) [PubMed] (N, I, H)

Mazzarino RC, Baresova V, Zikánová M, Duval N, Wilkinson TG 2nd, Patterson D, Vacano GN. The CRISPR-Cas9 crADSL HeLa transcriptome: A first step in establishing a model for ADSL deficiency and SAICAR accumulation. Mol Genet Metab Rep. 2019 Sep 4;21:100512. doi: 10.1016/j.ymgmr.2019.100512. (IF 1.845) [PubMed] (N, I, H)

Pelet A, Skopova V, Steuerwald U, Baresova V, Zarhrate M, Plaza JM, Hnizda A, Krijt M, Souckova O, Wibrand F, Andorsdóttir G, Joensen F, Sedlak D, Bleyer AJ, Kmoch S, Lyonnet S, Zikanova M. PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome. Hum Mol Genet. 2019 Oct 10. pii: ddz237. doi: 10.1093/hmg/ddz237.(IF 4.544) [PubMed] (N, I, H)

Kleiblova P, Stolarova L, Krizova K, Lhota F, Hojny J, Zemankova P, Havranek O, Vocka M, Cerna M, Lhotova K, Borecka M, Janatova M, Soukupova J, Sevcik J, Zimovjanova M, Kotlas J, Panczak A, Vesela K, Cervenkova J, Schneiderova M, Burocziova M, Burdova K, Stranecky V, Foretova L, Machackova E, Tavandzis S, Kmoch S, Macurek L, Kleibl Z. Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer. Int J Cancer. 2019 May 3. doi: 10.1002/ijc.32385. (IF 7.360) [PubMed] (N, H)

2018

Mádrová L, Krijt M, Barešová V, Václavík J, Friedecký D, Dobešová D, Součková O, Škopová V, Adam T, Zikánová M. Mass spectrometric analysis of purine de novo biosynthesis intermediates. PLoS One. 2018 Dec 10;13(12):e0208947. doi: 10.1371/journal.pone.0208947. (IF 2.766) [PubMed] (N, H, D)

Vevera J, Zarrei M, Hartmannová H, Jedličková I, Mušálková D, Přistoupilová A, Oliveriusová P, Trešlová H, Nosková L, Hodaňová K, Stránecký V, Jiřička V, Preiss M, Příhodová K, Šaligová J, Wei J, Woodbury-Smith M, Bleyer AJ, Scherer SW, Kmoch S. Rare copy number variation in extremely impulsively violent males. Genes Brain Behav. 2018 Nov 8:e12536. doi: 10.1111/gbb.12536. (IF 3.496) [PubMed] (N, I, H, D)

Živná M, Kidd K, Přistoupilová A, Barešová V, DeFelice M, Blumenstiel B, Harden M, Conlon P, Lavin P, Connaughton DM, Hartmannová H, Hodaňová K, Stránecký V, Vrbacká A, Vyleťal P, Živný J, Votruba M, Sovová J, Hůlková H, Robins V, Perry R, Wenzel A, Beck BB, Seeman T, Viklický O, Rajnochová-Bloudíčková S, Papagregoriou G, Deltas CC, Alper SL, Greka A, Bleyer AJ, Kmoch S. Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease. J Am Soc Nephrol. 2018 Sep;29(9):2418-2431. doi: 10.1681/ASN.2018020180. (IF 8.655) [PubMed] (N, H, I, D)

Baresova V, Skopova V, Souckova O, Krijt M, Kmoch S, Zikanova M. Study of purinosome assembly in cell-based model systems with de novo purine synthesis and salvage pathway deficiencies. PLoS ONE 13(7): e0201432. https://doi.org/10.1371/journal.pone.0201432 (IF 3.234) [PubMed] (N, D)

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, N, 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)