Search Results - "Tory, Kàlmàn"

The dominant findings of a recessive man: from Mendel’s kid pea to kidney by Tory, Kálmán

“…The research of Mendel, born two centuries ago, still has many direct implications for our everyday clinical work. He introduced the terms “dominant” and…”
Get full text

Activating HSP72 in Rodent Skeletal Muscle Increases Mitochondrial Number and Oxidative Capacity and Decreases Insulin Resistance by 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

“…Induction of heat shock protein (HSP)72 protects against obesity-induced insulin resistance, but the underlying mechanisms are unknown. Here, we show that…”
Get full text

Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population‐genetic approach by Mikó, Ágnes, Kaposi, Ambrus, Schnabel, Karolina, Seidl, Dániel, Tory, Kálmán

“…We aimed to identify incompletely penetrant (IP) variants and interallelic interactions in autosomal recessive disorders by a population‐genetic approach…”
Get full text

The mutation‐dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment by Mikó, Ágnes, K. Menyhárd, Dóra, Kaposi, Ambrus, Antignac, Corinne, Tory, Kálmán

“…NPHS2, encoding podocin, is the major gene implicated in steroid‐resistant nephrotic syndrome. Its c.686G>A, p.R229Q variant is the first human variant with a…”
Get full text

The importance of pseudouridylation: human disorders related to the fifth nucleoside by Keszthelyi, Tália Magdolna, Tory, Kálmán

“…Pseudouridylation is one of the most abundant RNA modifications in eukaryotes, making pseudouridine known as the "fifth nucleoside." This highly conserved…”
Get more information

Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome by Tory, Kálmán, Menyhárd, Dóra K, Woerner, Stéphanie, Nevo, Fabien, Gribouval, Olivier, Kerti, Andrea, Stráner, Pál, Arrondel, Christelle, Cong, Evelyne Huynh, Tulassay, Tivadar, Mollet, Géraldine, Perczel, András, Antignac, Corinne

“…Kálmán Tory, Corinne Antignac and colleagues report that a variant of NPHS2 , encoding p.Arg229Gln, causes nephrotic syndrome only when present in trans with…”
Get full text

EPG5 c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome by Vojcek, Eszter, Keszthelyi, Tália Magdolna, Jávorszky, Eszter, Balogh, Lídia, Tory, Kálmán

“…We report on a sibling pair with the EPG5 c.1007A > G mutation who developed a severe form of Vici syndrome and died in infancy. The c.1007A > G (p.Gln336Arg)…”
Get full text

Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies by 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

“…Background Autosomal recessive polycystic kidney disease (ARPKD) is genetically one of the least heterogeneous ciliopathies, resulting primarily from mutations…”
Get full text

Genetic background of congenital aniridia by Damian, Alejandra, Blanco‐Kelly, Fiona, Tamayo, Alejandra, Swafiri, Saoud T., Villaverde, Cristina, Ruiz‐Sánchez, Carolina, Tory, Kálmán, Szentmáry, Nóra, Ayuso, Carmen, Corton, Marta

“…Congenital aniridia is a complex disease, characterized mainly by iris and foveal hypoplasia, but patients show great clinical variability with overlapping of…”
Get full text

The sub‐basal nerve plexus and central corneal stromal microstructure in subjects with congenital aniridia, using in vivo confocal microscopy by 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

“…Purpose: Congenital aniridia is a rare disease, with a global prevalence of 1 in 40 000 to 1 in 100 000. During life up to 70% of aniridia sufferers develop…”
Get full text

QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletions by Jávorszky, Eszter, Morinière, Vincent, Kerti, Andrea, Balogh, Eszter, Pikó, Henriett, Saunier, Sophie, Karcagi, Veronika, Antignac, Corinne, Tory, Kálmán

“…Nephronophthisis, an autosomal recessive nephropathy, is responsible for 10% of childhood chronic renal failure. The deletion of its major gene, NPHP1, with a…”
Get more information

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 by 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

“…ABCC6 promotes ATP efflux from hepatocytes to bloodstream. ATP is metabolized to pyrophosphate, an inhibitor of ectopic calcification. Pathogenic variants of…”
Get full text

Examination of Subbasal Nerve Plexus and Central Corneal Stromal Microstructure in Subjects With Congenital Aniridia, Using in Vivo Confocal Laser Scanning Microscopy by Csorba, Anita, Kormányos, Kitti, Csidey, Mária, Náray, Annamária, Kovács, Klaudia, Németh, Orsolya, Knézy, Krisztina, Bausz, Mária, Szigeti, Andrea, Szabó, Dorottya, Corton, Marta, Tory, Kálmán, Nagy, Zoltán Zsolt, Langenbucher, Achim, Maka, Erika, Szentmáry, Nóra

“…During life up to 70% of aniridia subjects develop aniridia-associated keratopathy (AAK). AAK is characterized by limbal stem cell insufficiency, impaired…”
Get full text

A molecular mechanism explaining albuminuria in kidney disease by Butt, Linus, Unnersjö-Jess, David, Höhne, Martin, Edwards, Aurelie, Binz-Lotter, Julia, Reilly, Dervla, Hahnfeldt, Robert, Ziegler, Vera, Fremter, Katharina, Rinschen, Markus M., Helmstädter, Martin, Ebert, Lena K., Castrop, Hayo, Hackl, Matthias J., Walz, Gerd, Brinkkoetter, Paul T., Liebau, Max C., Tory, Kálmán, Hoyer, Peter F., Beck, Bodo B., Brismar, Hjalmar, Blom, Hans, Schermer, Bernhard, Benzing, Thomas

“…Mammalian kidneys constantly filter large amounts of liquid, with almost complete retention of albumin and other macromolecules in the plasma. Breakdown of the…”
Get full text

Mutations of NPHP2 and NPHP3 in infantile nephronophthisis by Tory, Kálmán, Rousset-Rouvière, Caroline, Gubler, Marie-Claire, Morinière, Vincent, Pawtowski, Audrey, Becker, Céline, Guyot, Claude, Gié, Sophie, Frishberg, Yaacov, Nivet, Hubert, Deschênes, Georges, Cochat, Pierre, Gagnadoux, Marie-France, Saunier, Sophie, Antignac, Corinne, Salomon, Rémi

“…Nephronophthisis is an autosomal recessive chronic tubulointerstitial disease that progresses to end-stage renal disease (ESRD) in about 10% of cases during…”
Get full text

Endoplasmic reticulum–retained podocin mutants are massively degraded by the proteasome by Serrano-Perez, Maria-Carmen, Tilley, Frances C., Nevo, Fabien, Arrondel, Christelle, Sbissa, Selim, Martin, Gaëlle, Tory, Kalman, Antignac, Corinne, Mollet, Géraldine

“…Podocin is a key component of the slit diaphragm in the glomerular filtration barrier, and mutations in the podocin-encoding gene NPHS2 are a common cause of…”
Get full text

C-terminal oligomerization of podocin mediates interallelic interactions by Stráner, Pál, Balogh, Eszter, Schay, Gusztáv, Arrondel, Christelle, Mikó, Ágnes, L'Auné, Gerda, Benmerah, Alexandre, Perczel, András, K. Menyhárd, Dóra, Antignac, Corinne, Mollet, Géraldine, Tory, Kálmán

“…Interallelic interactions of membrane proteins are not taken into account while evaluating the pathogenicity of sequence variants in autosomal recessive…”
Get full text

High NPHP1 and NPHP6 mutation rate in patients with joubert syndrome and nephronophthisis : Potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations by TORY, Kalman, LACOSTE, Tiphanie, ANTIGNAC, Corinne, SALOMON, Rémi, SAUNIER, Sophie, BURGLEN, Lydie, MORINIERE, Vincent, BODDAERT, Nathalie, MACHER, Marie-Alice, LLANAS, Brigitte, NIVET, Hubert, BENSMAN, Albert, NIAUDET, Patrick

“…Joubert syndrome (JS) is an autosomal recessive disorder that is described in patients with cerebellar ataxia, mental retardation, hypotonia, and neonatal…”
Get full text

Selective measurement of α smooth muscle actin: why β-actin can not be used as a housekeeping gene when tissue fibrosis occurs by Veres-Székely, Apor, Pap, Domonkos, Sziksz, Erna, Jávorszky, Eszter, Rokonay, Réka, Lippai, Rita, Tory, Kálmán, Fekete, Andrea, Tulassay, Tivadar, Szabó, Attila J, Vannay, Ádám

“…Prevalence of fibroproliferative diseases, including chronic kidney disease is rapidly increasing and has become a major public health problem worldwide…”
Get full text

Staging of aniridia-associated keratopathy by 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

“…Congenital aniridia is a rare panocular disease that affects almost all eye structures leading in most patients to reduced visual acuity. Ophthalmological…”
Get more information