Stanislav Kmoch

Stanislav Kmoch

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Stanislav Kmoch

Stanislav Kmoch

Publications by authors named "Stanislav Kmoch"

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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 Jan 15;182(1):219-223. Epub 2019 Nov 15.

Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, 1st Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.

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http://dx.doi.org/10.1002/ajmg.a.61416DOI Listing
January 2020

Genetic architecture of recent-onset dilated cardiomyopathy in Moravian region assessed by whole-exome sequencing and its clinical correlates.

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2019 Dec 24;163(4):309-317. Epub 2018 Sep 24.

Department of Cardiology, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.

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http://dx.doi.org/10.5507/bp.2018.054DOI Listing
December 2019

POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene.

Neurol Neurochir Pol 2019 2;53(5):369-376. Epub 2019 Oct 2.

Clinic of Pediatric and Adolescent Medicine, 1st Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 12109 Prague, Czech Republic.

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http://dx.doi.org/10.5603/PJNNS.a2019.0042DOI Listing
November 2019

PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.

Hum Mol Genet 2019 Nov;28(22):3805-3814

Research Unit for Rare Diseases, Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, 12808 Prague, Czech Republic.

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http://dx.doi.org/10.1093/hmg/ddz237DOI Listing
November 2019

Autosomal dominant tubulointerstitial kidney disease.

Nat Rev Dis Primers 2019 Sep 5;5(1):60. Epub 2019 Sep 5.

Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, NC, USA.

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http://dx.doi.org/10.1038/s41572-019-0109-9DOI Listing
September 2019

Diagnostic Utility of Exome Sequencing for Kidney Disease.

N Engl J Med 2019 05;380(21):2080

Broad Institute of MIT and Harvard, Boston, MA.

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http://dx.doi.org/10.1056/NEJMc1903250DOI Listing
May 2019

Modern methods in diagnostics and research of molecular bases of rare diseases.

Cas Lek Cesk Summer 2018;157(3):133-136

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April 2019

Study of purinosome assembly in cell-based model systems with de novo purine synthesis and salvage pathway deficiencies.

PLoS One 2018 30;13(7):e0201432. Epub 2018 Jul 30.

Research Unit for Rare Diseases, Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0201432PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6066232PMC
January 2019

LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?

Am J Med Genet A 2018 11 8;176(11):2430-2434. Epub 2018 Sep 8.

Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, 1st Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.

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http://dx.doi.org/10.1002/ajmg.a.40430DOI Listing
November 2018

Teenage-onset progressive myoclonic epilepsy due to a familial repeat expansion.

Neurology 2018 02 19;90(8):e658-e663. Epub 2018 Jan 19.

From the Department of Neurology (J.v.d.A., A.S., A.M., P.S., B.D.) and Center for Medical Genetics (B.D.), Ghent University Hospital, Belgium; Institute for Inherited Metabolic Disorders (I.J., A.P., H.H., S.K.), Prague, First Faculty of Medicine, Charles University in Prague, Czech Republic; Neurodegenerative Brain Diseases Group (A.S., S.V.M., C.V.B.), Center for Molecular Neurology, VIB; Neuropathology and Laboratory of Neurochemistry and Behavior (A.S.), Laboratory of Neurogenetics (S.V.M., C.V.B.), and Laboratory of Neuromuscular Pathology and Translational Neurosciences (C.C.-d.G.), Institute Born-Bunge, University of Antwerp, Belgium; Institute of Pathology, First Faculty of Medicine (H.H., R.M.), Charles University and General University Hospital; Department of Pathology and Molecular Medicine (R.M.), National Reference Laboratory for Diagnostics of Human Prion Diseases, Thomayer Hospital, Prague, Czech Republic; Epilepsy Research Centre, Department of Medicine (S.F.B.), University of Melbourne, Austin Health, Heidelberg, Australia; and Inserm U1167 (B.D.), Laboratoire d'Excellence Distalz, Institut Pasteur de Lille, Longevity Research Center, Université de Lille, France. J.v.d.A. is currently affiliated with the Department of Clinical Neurosciences and WT/CRUK Gurdon Institute, University of Cambridge, UK.

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http://dx.doi.org/10.1212/WNL.0000000000004999DOI Listing
February 2018

Autosomal Dominant Tubulointerstitial Kidney Disease.

Adv Chronic Kidney Dis 2017 03;24(2):86-93

Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, NC; Institute for Inherited Metabolic Disorders, Prague, Czech Republic; and First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.

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http://dx.doi.org/10.1053/j.ackd.2016.11.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5488707PMC
March 2017

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 11 24;119(3):270-277. Epub 2016 Aug 24.

Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, General University Hospital in Prague, Ke Karlovu 2, 128 08 Praha 2, Czech Republic. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.08.004DOI Listing
November 2016

Rare variants in known and novel candidate genes predisposing to statin-associated myopathy.

Pharmacogenomics 2016 08 14;17(13):1405-14. Epub 2016 Jun 14.

Institute of Inherited Metabolic Diseases, First Medical Faculty, Charles University, Prague, Czech Republic.

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http://dx.doi.org/10.2217/pgs-2016-0071DOI Listing
August 2016

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).

Neurology 2016 Aug 13;87(6):579-84. Epub 2016 Jul 13.

From the Epilepsy Research Centre, Department of Medicine (S.F.B., K.L.O., J.A.D., M.S.H.), University of Melbourne, Austin Health, Heidelberg, Australia; Biogen, Inc. (J.F.S.), Cambridge, MA; Department of Pathology (S.C.), Centro Hospitalar São João, Porto, Portugal; Institute of Inherited Metabolic Disorders (S.K., I.J., A.P.), First Faculty of Medicine, Charles University in Prague; General University Hospital in Prague (S.K.), Czech Republic; Great Ormond Street Hospital for Children NHS Foundation Trust (G.W.A.), London, UK; Center for Human Genetic Research and Department of Neurology (K.B.S., S.L.C.), Harvard Medical School, Massachusetts General Hospital, Boston; Population Health and Immunity Division (M.B., K.R.S.), The Walter and Eliza Hall Institute of Medical Research; Departments of Mathematics and Statistics and Medical Biology (M.B.), University of Melbourne, Australia; Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.C.-D., P.C.), University of Montreal, Canada; and MRC Laboratory for Cell Biology (S.E.M.), Department of Genetics, Evolution & Environment and UCL Institute of Child Health, University College London, UK.

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http://dx.doi.org/10.1212/WNL.0000000000002943DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4977374PMC
August 2016

Tamm Horsfall Glycoprotein and Uromodulin: It Is All about the Tubules!

Clin J Am Soc Nephrol 2016 Jan 18;11(1):6-8. Epub 2015 Dec 18.

Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina; and Institute for Inherited Metabolic Disorders, Charles University in Prague, Prague, Czech Republic.

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http://dx.doi.org/10.2215/CJN.12201115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4702239PMC
January 2016

A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes.

Eur J Med Genet 2015 Oct 11;58(10):550-5. Epub 2015 Sep 11.

Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1016/j.ejmg.2015.09.004DOI Listing
October 2015

Adenylosuccinate lyase deficiency.

J Inherit Metab Dis 2015 Mar 12;38(2):231-42. Epub 2014 Aug 12.

Department of Genetics, University of Gdańsk, ul. Wita Stwosza 59, 80-308, Gdańsk, Poland,

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http://dx.doi.org/10.1007/s10545-014-9755-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4341013PMC
March 2015

Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots.

Clin Biochem 2015 Jan 23;48(1-2):2-7. Epub 2014 Oct 23.

Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Ke Karlovu 2, 128 08 Praha 2, Czech Republic. Electronic address:

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http://dx.doi.org/10.1016/j.clinbiochem.2014.10.004DOI Listing
January 2015

Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation.

Cell Metab 2014 Sep 24;20(3):448-57. Epub 2014 Jul 24.

Department of Pharmacology and Vascular Biology and Therapeutics Program, Yale University School of Medicine, 10 Amistad Street, New Haven, CT 06520, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2014.06.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4161961PMC
September 2014

Autosomal dominant tubulointerstitial kidney disease: of names and genes.

Kidney Int 2014 Sep;86(3):459-61

Institute for Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.

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http://dx.doi.org/10.1038/ki.2014.125DOI Listing
September 2014

The need for vigilance: false-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers.

Clin Biochem 2013 Dec 30;46(18):1899-901. Epub 2013 Oct 30.

Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Ke Karlovu 2, 128 08 Praha 2, Czech Republic. Electronic address:

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http://dx.doi.org/10.1016/j.clinbiochem.2013.10.018DOI Listing
December 2013

Bioinformatic perspectives in the neuronal ceroid lipofuscinoses.

Biochim Biophys Acta 2013 Nov 26;1832(11):1831-41. Epub 2012 Dec 26.

Institute for Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, 120 00 Prague, Czech Republic.

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http://dx.doi.org/10.1016/j.bbadis.2012.12.010DOI Listing
November 2013

Genetic and metabolomic analysis of AdeD and AdeI mutants of de novo purine biosynthesis: cellular models of de novo purine biosynthesis deficiency disorders.

Mol Genet Metab 2013 Mar 12;108(3):178-189. Epub 2013 Jan 12.

Eleanor Roosevelt Institute and Department of Biological Sciences, University of Denver, 2101 E. Wesley Ave., Denver, CO 80208, USA.

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http://dx.doi.org/10.1016/j.ymgme.2013.01.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4296673PMC
March 2013

Gout: a step forward.

Adv Chronic Kidney Dis 2012 Nov;19(6):356-7

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http://dx.doi.org/10.1053/j.ackd.2012.07.013DOI Listing
November 2012

Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation.

Biochim Biophys Acta 2012 Jul 10;1817(7):1037-43. Epub 2012 Mar 10.

Department of Bioenergetics, Institute of Physiology, Academy of Sciences of the Czech Republic.

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http://dx.doi.org/10.1016/j.bbabio.2012.03.004DOI Listing
July 2012

Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations.

Biochim Biophys Acta 2012 Jul 20;1822(7):1114-24. Epub 2012 Mar 20.

Institute of Physiology, Academy of Science of the Czech Republic, v.v.i., Prague, Czech Republic.

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http://dx.doi.org/10.1016/j.bbadis.2012.03.007DOI Listing
July 2012

Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency.

Hum Mol Genet 2012 Apr 16;21(7):1534-43. Epub 2011 Dec 16.

Institute of Inherited Metabolic Disorders, Charles University in Prague and General University Hospital in Prague, 128 08 Prague 2, Czech Republic.

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http://dx.doi.org/10.1093/hmg/ddr591DOI Listing
April 2012

Uromodulin biology and pathophysiology--an update.

Kidney Blood Press Res 2010 25;33(6):456-75. Epub 2010 Nov 25.

Center for Applied Genomics, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.

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http://dx.doi.org/10.1159/000321013DOI Listing
November 2011

Uromodulin-associated kidney disease.

Nephron Clin Pract 2011 11;118(1):c31-6. Epub 2010 Nov 11.

Section on Nephrology, Wake Forest University School of Medicine, Medical Center Boulevard, Winston-Salem, N.C. 27157, USA.

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http://dx.doi.org/10.1159/000320889DOI Listing
March 2011

Expression and processing of the TMEM70 protein.

Biochim Biophys Acta 2011 Jan 16;1807(1):144-9. Epub 2010 Oct 16.

Institute of Physiology Academy of Sciences of the Czech Republic, 142 20 Prague, Czech Republic.

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http://dx.doi.org/10.1016/j.bbabio.2010.10.005DOI Listing
January 2011

Hereditary interstitial kidney disease.

Semin Nephrol 2010 Jul;30(4):366-73

Section on Nephrology, Wake Forest University School of Medicine, Winston-Salem, NC 27157, USA.

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http://dx.doi.org/10.1016/j.semnephrol.2010.06.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4264385PMC
July 2010

Detection of viral infections by an oligonucleotide microarray.

J Virol Methods 2010 Apr 25;165(1):64-70. Epub 2010 Jan 25.

Department of Laboratory Methods and Medical Technology, Faculty of Health and Social Studies, University of South Bohemia, J Boreckeho 27, 370 11 Ceske Budejovice, Czech Republic.

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http://dx.doi.org/10.1016/j.jviromet.2010.01.004DOI Listing
April 2010

Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency.

Hum Mutat 2010 Apr;31(4):445-55

Institute of Inherited Metabolic Disorders, Charles University in Prague, First Faculty of Medicine, Ke Karlovu 2, Prague 2, Czech Republic.

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http://doi.wiley.com/10.1002/humu.21212
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http://dx.doi.org/10.1002/humu.21212DOI Listing
April 2010

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation.

Arch Dis Child 2010 Apr;95(4):296-301

Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague, Ke Karlovu 2, 128 08 Prague 2, Czech Republic.

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http://dx.doi.org/10.1136/adc.2009.168096DOI Listing
April 2010

TMEM70 protein - a novel ancillary factor of mammalian ATP synthase.

Biochim Biophys Acta 2009 May 6;1787(5):529-32. Epub 2008 Dec 6.

Department of Bioenergetics, Academy of Sciences of the Czech Republic, Vídenská 1083, 142 20 Prague 4-Krc, Czech Republic.

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http://dx.doi.org/10.1016/j.bbabio.2008.11.013DOI Listing
May 2009

HIF and reactive oxygen species regulate oxidative phosphorylation in cancer.

Carcinogenesis 2008 Aug 29;29(8):1528-37. Epub 2008 May 29.

Centre de Génétique Moléculaire et Cellulaire, UMR 5534, Centre National de la Recherche Scientifique, Claude Bernard University of Lyon 1, 43 Boulevard du onze novembre, 69622 Villeurbanne, Cedex, France.

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http://carcin.oxfordjournals.org/content/29/8/1528.full.pdf
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http://www.carcin.oxfordjournals.org/cgi/doi/10.1093/carcin/
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http://dx.doi.org/10.1093/carcin/bgn125DOI Listing
August 2008

Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency.

Mol Genet Metab 2008 Aug 3;94(4):435-42. Epub 2008 Jun 3.

Department of Metabolic Diseases, Endocrinology and Diabetology, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.

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http://dx.doi.org/10.1016/j.ymgme.2008.04.013DOI Listing
August 2008