A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis

Authors: Elhassan, Elhussein A.E., Kmochová, Tereza, Benson, Katherine A., Fennelly, Neil K., Barešová, Veronika, Kidd, Kendrah, Doyle, Brendan, Dorman, Anthony, Morrin, Martina M., Kyne, Niamh C., Vyleťal, Petr, Hartmannová, Hana, Hodaňová, Kateřina, Sovová, Jana, Mušálková, Dita, Vrbacká, Alena, Přistoupilová, Anna, Živný, Jan, Svojšová, Klára, Radina, Martin, Stránecký, Viktor, Loginov, Dmitry, Pompach, Petr, Novák, Petr, Vaníčková, Zdislava, Hansíková, Hana, Rajnochová-Bloudíčková, Silvie, Viklický, Ondřej, Hůlková, Helena, Cavalleri, Gianpiero L., Hnízda, Aleš, Bleyer, Anthony J., Kmoch, Stanislav, Conlon, Peter J., Živná, Martina

Source: In Kidney International Reports July 2024 9(7):2209-2226

Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis

Authors: Kmochová, Tereza, Kidd, Kendrah O., Orr, Andrew, Hnízda, Aleš, Hartmannová, Hana, Hodaňová, Kateřina, Vyleťal, Petr, Naušová, Karolína, Brinsa, Vítězslav, Trešlová, Helena, Sovová, Jana, Barešová, Veronika, Svojšová, Klára, Vrbacká, Alena, Stránecký, Viktor, Robins, Victoria C., Taylor, Abbigail, Martin, Lauren, Rivas-Chavez, Ana, Payne, Riley, Bleyer, Heidi A., Williams, Adrienne, Rennke, Helmut G., Weins, Astrid, Short, Patrick J., Agrawal, Varun, Storsley, Leroy J., Waikar, Sushrut S., McPhail, Ellen D., Dasari, Surendra, Leung, Nelson, Hewlett, Tom, Yorke, Jake, Gaston, Daniel, Geldenhuys, Laurette, Samuels, Mark, Levine, Adam P., West, Michael, Hůlková, Helena, Pompach, Petr, Novák, Petr, Weinberg, Richard B., Bedard, Karen, Živná, Martina, Sikora, Jakub, Bleyer, Anthony J., Sr., Kmoch, Stanislav

Source: In Kidney International April 2024 105(4):799-811

A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis

Authors: Sikora, Jakub, Kmochová, Tereza, Mušálková, Dita, Pohludka, Michal, Přikryl, Petr, Hartmannová, Hana, Hodaňová, Kateřina, Trešlová, Helena, Nosková, Lenka, Mrázová, Lenka, Stránecký, Viktor, Lunová, Mariia, Jirsa, Milan, Honsová, Eva, Dasari, Surendra, McPhail, Ellen D., Leung, Nelson, Živná, Martina, Bleyer, Anthony J., Rychlík, Ivan, Ryšavá, Romana, Kmoch, Stanislav

Source: Kidney international. 101(2):349-359

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100164489323.0x000001&indx=1&recIds=ETOCvdc_100164489323.0x000001

Genetic Landscape of Amyotrophic Lateral Sclerosis in Czech Patients.

Authors: Baumgartner, Daniel, Mušová, Zuzana, Zídková, Jana, Hedvičáková, Petra, Vlčková, Eva, Joppeková, Lubica, Kramářová, Tereza, Fajkusová, Lenka, Stránecký, Viktor, Geryk, Jan, Votýpka, Pavel, Mazanec, Radim

Source: Journal of Neuromuscular Diseases; 2024, Vol. 11 Issue 5, p1035-1048, 14p

Haplotype variability in mitochondrial rRNA predisposes to metabolic syndrome.

Authors: Pecina, Petr, Čunátová, Kristýna, Kaplanová, Vilma, Puertas-Frias, Guillermo, Šilhavý, Jan, Tauchmannová, Kateřina, Vrbacký, Marek, Čajka, Tomáš, Gahura, Ondřej, Hlaváčková, Markéta, Stránecký, Viktor, Kmoch, Stanislav, Pravenec, Michal, Houštěk, Josef, Mráček, Tomáš, Pecinová, Alena

Source: Communications Biology; 9/11/2024, Vol. 7 Issue 1, p1-17, 17p

Subject Terms: INSULIN resistance, NUCLEOTIDE sequence, HIGH-fat diet, METABOLIC syndrome, GENETIC translation

Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4

Authors: Liskova, Petra, Dudakova, Lubica, Evans, Cerys J., Rojas Lopez, Karla E., Pontikos, Nikolas, Athanasiou, Dimitra, Jama, Hodan, Sach, Josef, Skalicka, Pavlina, Stranecky, Viktor, Kmoch, Stanislav, Thaung, Caroline, Filipec, Martin, Cheetham, Michael E., Davidson, Alice E., Tuft, Stephen J., Hardcastle, Alison J.

Source: In The American Journal of Human Genetics 1 March 2018 102(3):447-459

Novel phenotype of COASY deficiency is characterized by fatal neonatal hepathopathy with severe hypoglycaemia, hyperammonaemia and lactic acidosis

Authors: Štufková, Hana, Majer, Filip, Hanák, Petr, Nosková, Lenka, Stránecký, Viktor, Rychtárová, Lucie, Ferdinandusse, Sacha, Křížová, Jana, Hansíková, Hana, Tesařová, Markéta, Kmoch, Stanislav, Kolářová, Hana, Honzík, Tomáš, Sikora, Jakub

Source: In BBA - Bioenergetics 1 September 2024 1865 Supplement

A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition

Authors: Zemankova, Petra, Cerna, Marta, Horackova, Klara, Ernst, Corinna, Soukupova, Jana, Borecka, Marianna, Blümcke, Britta, Cerna, Leona, Cerna, Monika, Curtisova, Vaclava, Dolezalova, Tatana, Duskova, Petra, Dvorakova, Lenka, Foretova, Lenka, Havranek, Ondrej, Hauke, Jan, Hahnen, Eric, Hodulova, Miloslava, Hovhannisyan, Milena, Hruskova, Lucie, Janatova, Marketa, Janikova, Maria, Jelinkova, Sandra, Just, Pavel, Kosarova, Marcela, Koudova, Monika, Krutilkova, Vera, Machackova, Eva, Matejkova, Katerina, Michalovska, Renata, Misove, Adela, Nehasil, Petr, Nemcova, Barbora, Novotny, Jan, Panczak, Ales, Pesek, Pavel, Scheinost, Ondrej, Springer, Drahomira, Stastna, Barbora, Stranecky, Viktor, Subrt, Ivan, Tavandzis, Spiros, Tureckova, Eva, Vesela, Kamila, Vlckova, Zdenka, Vocka, Michal, Wappenschmidt, Barbara, Zima, Tomas, Kleibl, Zdenek, Kleiblova, Petra

Source: In The Breast June 2024 75

Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans

Authors: Gstrein, Thomas, Edwards, Andrew, Přistoupilová, Anna, Leca, Ines, Breuss, Martin, Pilat-Carotta, Sandra, Hansen, Andi, Tripathy, Ratna, Traunbauer, Anna, Hochstoeger, Tobias, Rosoklija, Gavril, Repic, Marco, Landler, Lukas, Stránecký, Viktor, Dürnberger, Gerhard, Keane, Thomas, Zuber, Johannes, Adams, David, Flint, Jonathan, Honzik, Tomas, Gut, Marta, Beltran, Sergi, Mechtler, Karl, Sherr, Elliott, Kmoch, Stanislav, Gut, Ivo, Keays, David

Source: Nature neuroscience. 21(2):207-217

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100102200675.0x000001&indx=1&recIds=ETOCvdc_100102200675.0x000001

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

Authors: Bolar, Nikhita Ajit, Golzio, Christelle, Živná, Martina, Hayot, Gaëlle, Van Hemelrijk, Christine, Schepers, Dorien, Vandeweyer, Geert, Hoischen, Alexander, Huyghe, Jeroen R., Raes, Ann, Matthys, Erve, Sys, Emiel, Azou, Myriam, Gubler, Marie-Claire, Praet, Marleen, Van Camp, Guy, McFadden, Kelsey, Pediaditakis, Igor, Přistoupilová, Anna, Hodaňová, Kateřina, Vyleťal, Petr, Hartmannová, Hana, Stránecký, Viktor, Hůlková, Helena, Barešová, Veronika, Jedličková, Ivana, Sovová, Jana, Hnízda, Aleš, Kidd, Kendrah, Bleyer, Anthony J., Spong, Richard S., Vande Walle, Johan, Mortier, Geert, Brunner, Han, Van Laer, Lut, Kmoch, Stanislav, Katsanis, Nicholas, Loeys, Bart L.

Source: In The American Journal of Human Genetics 7 July 2016 99(1):174-187

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

Authors: Davidson, Alice E., Liskova, Petra, Evans, Cerys J., Dudakova, Lubica, Nosková, Lenka, Pontikos, Nikolas, Hartmannová, Hana, Hodaňová, Kateřina, Stránecký, Viktor, Kozmík, Zbyněk, Levis, Hannah J., Idigo, Nwamaka, Sasai, Noriaki, Maher, Geoffrey J., Bellingham, James, Veli, Neyme, Ebenezer, Neil D., Cheetham, Michael E., Daniels, Julie T., Thaung, Caroline M.H., Jirsova, Katerina, Plagnol, Vincent, Filipec, Martin, Kmoch, Stanislav, Tuft, Stephen J., Hardcastle, Alison J.

Source: In The American Journal of Human Genetics 7 January 2016 98(1):75-89

Increased burden of rare protein‐truncating variants in constrained, brain‐specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder.

Authors: Mušálková, Dita, Přistoupilová, Anna, Jedličková, Ivana, Hartmannová, Hana, Trešlová, Helena, Nosková, Lenka, Hodaňová, Kateřina, Bittmanová, Petra, Stránecký, Viktor, Jiřička, Václav, Langmajerová, Michaela, Woodbury‐Smith, Marc, Zarrei, Mehdi, Trost, Brett, Scherer, Stephen W., Bleyer, Anthony J., Vevera, Jan, Kmoch, Stanislav

Source: Genes, Brain & Behavior; Feb2024, Vol. 23 Issue 1, p1-24, 24p

Subject Terms: ANTISOCIAL personality disorders, NEUROTRANSMITTERS, GENES, GENE expression, NEUROLOGICAL disorders, MALES

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

Authors: Vlckova, Marketa, Simandlova, Martina, Zimmermann, Pavel, Stranecky, Viktor, Hartmannova, Hana, Hodanova, Katerina, Havlovicova, Marketa, Hancarova, Miroslava, Kmoch, Stanislav, Sedlacek, Zdenek

Source: In European Journal of Medical Genetics October 2015 58(10):550-555

Molecular diagnostics identifies risks for graft dysfunction despite borderline histologic changes

Authors: Hrubá, Petra, Brabcová, Irena, Gueler, Faikah, Krejčík, Zdeněk, Stránecký, Viktor, Svobodová, Eva, Malušková, Jana, Gwinner, Wilfried, Honsová, Eva, Lodererová, Alena, Oberbauer, Rainer, Zachoval, Roman, Viklický, Ondřej ^*

Source: In Kidney International October 2015 88(4):785-795

Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation

Authors: Park, Eon Joo, Grabińska, Kariona A., Guan, Ziqiang, Stránecký, Viktor, Hartmannová, Hana, Hodaňová, Kateřina, Barešová, Veronika, Sovová, Jana, Jozsef, Levente, Ondrušková, Nina, Hansíková, Hana, Honzík, Tomáš, Zeman, Jiří, Hůlková, Helena, Wen, Rong, Kmoch, Stanislav, Sessa, William C.

Source: In Cell Metabolism 2 September 2014 20(3):448-457

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

Authors: Neřoldová, Magdaléna, Stránecký, Viktor, Hodaňová, Kateřina, Hartmannová, Hana, Piherová, Lenka, Přistoupilová, Anna, Mrázová, Lenka, Vrablík, Michal, Adámková, Věra, Hubáček, Jaroslav A, Jirsa, Milan, Kmoch, Stanislav

Source: Pharmacogenomics. 17(13):1405-1414

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100139391403.0x000001&indx=1&recIds=ETOCvdc_100139391403.0x000001

Spontaneous nonsense mutation in the tuftelin 1 gene is associated with abnormal hair appearance and amelioration of glucose and lipid metabolism in the rat.

Authors: Šilhavý, Jan, Mlejnek, Petr, Šimáková, Miroslava, Liška, František, Malínská, Hana, Marková, Irena, Hüttl, Martina, Miklánková, Denisa, Mušálková, Dita, Stránecký, Viktor, Kmoch, Stanislav, Sticová, Eva, Vrbacký, Marek, Mráček, Tomáš, Pravenec, Michal

Source: Physiological Genomics; Dec2023, Vol. 55 Issue 12, p65-73, 9p

Subject Terms: NONSENSE mutation, LIPID metabolism, GLUCOSE metabolism, RATTUS norvegicus, PROTEOMICS, COAT proteins (Viruses), PROTEOLYSIS, INSULIN

ADAM22 ethnic-specific variant reducing binding of membrane-associated guanylate kinases causes focal epilepsy and behavioural disorder.

Authors: Nosková, Lenka, Yuko Fukata, Stránecký, Viktor, Šaligová, Jana, Bodnárová, Oxana, Giertlová, Mária, Masaki Fukata, Kmoch, Stanislav

Source: Brain Communications; 2023, Vol. 5 Issue 6, p1-8, 8p

Bioinformatic perspectives in the neuronal ceroid lipofuscinoses

Authors: Kmoch, Stanislav, Stránecký, Viktor, Emes, Richard D., Mitchison, Hannah M.

Source: In BBA - Molecular Basis of Disease November 2013 1832(11):1831-1841

Spinal muscular atrophy caused by a novel Alu‐mediated deletion of exons 2a‐5 in SMN1 undetectable with routine genetic testing

Authors: Jedličková, Ivana, Přistoupilová, Anna, Nosková, Lenka, Majer, Filip, Stránecký, Viktor, Hartmannová, Hana, Hodaňová, Kateřina, Trešlová, Helena, Hýblová, Michaela, Solár, Peter, Minárik, Gabriel, Giertlová, Mária, Kmoch, Stanislav

Source: Molecular genetics & genomic medicine. 8(7)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100107593446.0x000001&indx=1&recIds=ETOCvdc_100107593446.0x000001