Activating HSP72 in Rodent Skeletal Muscle Increases Mitochondrial Number and Oxidative Capacity and Decreases Insulin Resistance
HENSTRIDGE, Darren C, BRUCE, Clinton R, CONNOR, Timothy, WATT, Matthew J, CARPENTER, Kevin, HARGREAVES, Mark, MCGEE, Sean L, HEVENER, Andrea L, FEBBRAIO, Mark A, DREW, Brian G, KALMAN, Tory, ATTILA, Kolonics, ESTEVEZ, Emma, CHUNG, Jason, WATSON, Nadine, GARDNER, Timothy, LEE-YOUNG, Robert S
Published in Diabetes (New York, N.Y.) (01.06.2014)
Published in Diabetes (New York, N.Y.) (01.06.2014)
Get full text
Journal Article
The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals
Szeri, Flora, Miko, Agnes, Navasiolava, Nastassia, Kaposi, Ambrus, Verschuere, Shana, Molnar, Beatrix, Li, Qiaoli, Terry, Sharon F., Boraldi, Federica, Uitto, Jouni, Wetering, Koen, Martin, Ludovic, Quaglino, Daniela, Vanakker, Olivier M., Tory, Kalman, Aranyi, Tamas
Published in Human mutation (01.12.2022)
Published in Human mutation (01.12.2022)
Get full text
Journal Article
Endoplasmic reticulum–retained podocin mutants are massively degraded by the proteasome
Serrano-Perez, Maria-Carmen, Tilley, Frances C., Nevo, Fabien, Arrondel, Christelle, Sbissa, Selim, Martin, Gaëlle, Tory, Kalman, Antignac, Corinne, Mollet, Géraldine
Published in The Journal of biological chemistry (16.03.2018)
Published in The Journal of biological chemistry (16.03.2018)
Get full text
Journal Article
Selective measurement of α smooth muscle actin: why β-actin can not be used as a housekeeping gene when tissue fibrosis occurs
Veres-Székely, Apor, Pap, Domonkos, Sziksz, Erna, Jávorszky, Eszter, Rokonay, Réka, Lippai, Rita, Tory, Kálmán, Fekete, Andrea, Tulassay, Tivadar, Szabó, Attila J, Vannay, Ádám
Published in BMC molecular biology (27.04.2017)
Published in BMC molecular biology (27.04.2017)
Get full text
Journal Article
Staging of aniridia-associated keratopathy
Náray, Annamária, Fries, Fabian Norbert, Csidey, Mária, Kéki-Kovács, Klaudia, Németh, Orsolya, Knézy, Krisztina, Bausz, Mária, Szigeti, Andrea, Csorba, Anita, Kormányos, Kitti, Szabó, Dorottya, Corton, Marta, Tory, Kálmán, Nagy, Zoltán Zsolt, Maka, Erika, Szentmáry, Nóra
Published in Orvosi hetilap (09.07.2023)
Published in Orvosi hetilap (09.07.2023)
Get more information
Journal Article
Congenital aniridia - Hungarian data of a spectrum disease
Náray, Annamária, Csidey, Mária, Kéki-Kovács, Klaudia, Németh, Orsolya, Knézy, Krisztina, Bausz, Mária, Szigeti, Andrea, Csorba, Anita, Kormányos, Kitti, Szabó, Dorottya, Stachon, Tanja, Corton, Marta, Tory, Kálmán, Nagy, Zoltán Zsolt, Maka, Erika, Szentmáry, Nóra
Published in Orvosi hetilap (29.01.2023)
Published in Orvosi hetilap (29.01.2023)
Get more information
Journal Article
Trisomy 9p and clinical heterogeneity: case report of an unusual presentation
Lengyel, Anna, Kosik, Anna, Pinti, Éva, Lódi, Csaba, Tory, Kálmán, Fekete, György, Haltrich, Irén
Published in Orvosi hetilap (01.11.2018)
Published in Orvosi hetilap (01.11.2018)
Get more information
Journal Article
The mutation‐dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment
Mikó, Ágnes, K. Menyhárd, Dóra, Kaposi, Ambrus, Antignac, Corinne, Tory, Kálmán
Published in Human mutation (01.12.2018)
Published in Human mutation (01.12.2018)
Get full text
Journal Article
BGP-15 — a novel poly(ADP-ribose) polymerase inhibitor — protects against nephrotoxicity of cisplatin without compromising its antitumor activity
Racz, Ildiko, Tory, Kalman, Gallyas, Ferenc, Berente, Zoltán, Osz, Erzsebet, Jaszlits, Laszlo, Bernath, Sandor, Sumegi, Balazs, Rabloczky, Gyorgy, Literati-Nagy, Peter
Published in Biochemical pharmacology (15.03.2002)
Published in Biochemical pharmacology (15.03.2002)
Get full text
Journal Article
Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome
Tory, Kálmán, Menyhárd, Dóra K, Woerner, Stéphanie, Nevo, Fabien, Gribouval, Olivier, Kerti, Andrea, Stráner, Pál, Arrondel, Christelle, Huynh Cong, Evelyne, Tulassay, Tivadar, Mollet, Géraldine, Perczel, András, Antignac, Corinne
Published in Nature genetics (01.03.2014)
Published in Nature genetics (01.03.2014)
Get full text
Journal Article
EPG5 c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome
Vojcek, Eszter, Keszthelyi, Tália Magdolna, Jávorszky, Eszter, Balogh, Lídia, Tory, Kálmán
Published in Annals of human genetics (01.01.2020)
Published in Annals of human genetics (01.01.2020)
Get full text
Journal Article
Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies
Szabó, Tamás, Orosz, Petronella, Balogh, Eszter, Jávorszky, Eszter, Máttyus, István, Bereczki, Csaba, Maróti, Zoltán, Kalmár, Tibor, Szabó, Attila J, Reusz, George, Várkonyi, Ildikó, Marián, Erzsébet, Gombos, Éva, Orosz, Orsolya, Madar, László, Balla, György, Kappelmayer, János, Tory, Kálmán, Balogh, István
Published in Pediatric nephrology (Berlin, West) (01.10.2018)
Published in Pediatric nephrology (Berlin, West) (01.10.2018)
Get full text
Journal Article
The sub‐basal nerve plexus and central corneal stromal microstructure in subjects with congenital aniridia, using in vivo confocal microscopy
Szentmáry, Nóra, Csorba, Anita, Kormányos, Kitti, Csidey, Mária, Náray, Annamária, Kéki‐Kovács, Klaudia, Németh, Orsolya, Knézy, Krisztina, Bausz, Mária, Szigeti, Andrea, Szabó, Dorottya, Corton, Marta, Tory, Kálmán, Nagy, Zoltán Zsolt, Langenbucher, Achim, Maka, Erika
Published in Acta ophthalmologica (Oxford, England) (01.01.2024)
Published in Acta ophthalmologica (Oxford, England) (01.01.2024)
Get full text
Journal Article
Genetic background of congenital aniridia
Damian, Alejandra, Blanco‐Kelly, Fiona, Tamayo, Alejandra, Swafiri, Saoud T., Villaverde, Cristina, Ruiz‐Sánchez, Carolina, Tory, Kálmán, Szentmáry, Nóra, Ayuso, Carmen, Corton, Marta
Published in Acta ophthalmologica (Oxford, England) (01.01.2024)
Published in Acta ophthalmologica (Oxford, England) (01.01.2024)
Get full text
Journal Article
QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletions
Jávorszky, Eszter, Morinière, Vincent, Kerti, Andrea, Balogh, Eszter, Pikó, Henriett, Saunier, Sophie, Karcagi, Veronika, Antignac, Corinne, Tory, Kálmán
Published in Clinical chemistry and laboratory medicine (01.06.2017)
Published in Clinical chemistry and laboratory medicine (01.06.2017)
Get full text
Journal Article