K
Kálmán Tory
Researcher at Semmelweis University
Publications - 70
Citations - 2594
Kálmán Tory is an academic researcher from Semmelweis University. The author has contributed to research in topics: Insulin resistance & Insulin. The author has an hindex of 23, co-authored 67 publications receiving 2276 citations. Previous affiliations of Kálmán Tory include French Institute of Health and Medical Research & Hungarian Academy of Sciences.
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Journal ArticleDOI
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome
Marion Delous,Lekbir Baala,Rémi Salomon,Christine Laclef,Christine Laclef,Jeanette Vierkotten,Kálmán Tory,Christelle Golzio,Tiphanie Lacoste,Laurianne Besse,Laurianne Besse,Catherine Ozilou,Imane Moutkine,Nathan E. Hellman,Isabelle Anselme,Isabelle Anselme,Flora Silbermann,Christine Vesque,Christine Vesque,Christoph Gerhardt,Eleanor Rattenberry,Matthias T.F. Wolf,Marie Claire Gubler,Jelena Martinovic,Férechté Encha-Razavi,Nathalie Boddaert,Marie Gonzales,Marie Alice Macher,Hubert Nivet,Gérard Champion,Jean Pierre Berthélémé,Patrick Niaudet,Fiona McDonald,Friedhelm Hildebrandt,Colin A. Johnson,Michel Vekemans,Corinne Antignac,Ulrich Rüther,Sylvie Schneider-Maunoury,Sylvie Schneider-Maunoury,Tania Attié-Bitach,Sophie Saunier +41 more
TL;DR: Findings show that mutations in RPGRIP1L can cause the multiorgan phenotypic abnormalities found in CORS or MKS, which therefore represent a continuum of the same underlying disorder.
Journal ArticleDOI
Activating HSP72 in Rodent Skeletal Muscle Increases Mitochondrial Number and Oxidative Capacity and Decreases Insulin Resistance
Darren C. Henstridge,Clinton R. Bruce,Brian G. Drew,Kálmán Tory,Attila Kolonics,Emma Estevez,Jason Chung,Nadine Watson,Timothy Gardner,Robert S. Lee-Young,Timothy Connor,Matthew J. Watt,Kevin Carpenter,Mark Hargreaves,Sean L. McGee,Andrea L. Hevener,Mark A. Febbraio +16 more
TL;DR: The increased oxidative metabolism associated with activation of HSP72 has potential clinical implications not only for type 2 diabetes but also for other disorders where mitochondrial function is compromised.
Journal ArticleDOI
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
Kálmán Tory,Tiphanie Lacoste,Lydie Burglen,Vincent Morinière,Nathalie Boddaert,Marie Alice Macher,Brigitte B. Llanas,Hubert Nivet,Albert Bensman,Patrick Niaudet,Corinne Antignac,Rémi Salomon,Sophie Saunier +12 more
TL;DR: NPHP1 and NPHP6 are major genes of nephronophthisis associated with JS andEpistatic effects that are provided by heterozygous N PHP6 and AHI1 mutations and variants may contribute to the appearance of extrarenal symptoms in patients with NPHp1 mutations.
Journal ArticleDOI
Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans
Jan Halbritter,Albane A. Bizet,Miriam Schmidts,Jonathan D. Porath,Daniela A. Braun,Heon Yung Gee,Aideen M. McInerney-Leo,Pauline Krug,Emilie Filhol,Erica E. Davis,Rannar Airik,Peter G. Czarnecki,Peter G. Czarnecki,Anna Lehman,Peter Trnka,Patrick Nitschke,Christine Bole-Feysot,Markus Schueler,Bertrand Knebelmann,Stéphane Burtey,Attila Szabo,Kálmán Tory,Paul Leo,Brooke Gardiner,Fiona Haslam McKenzie,Andreas Zankl,Andreas Zankl,Matthew A. Brown,Jane Hartley,Eamonn R. Maher,Eamonn R. Maher,Chunmei Li,Michel R. Leroux,Peter J. Scambler,Shing Hei Zhan,Steven J.M. Jones,Hülya Kayserili,Beyhan Tüysüz,Khemchand N. Moorani,Alexandru Constantinescu,Ian D. Krantz,Bernard S. Kaplan,Jagesh V. Shah,Jagesh V. Shah,Toby W. Hurd,Dan Doherty,Nicholas Katsanis,Emma L. Duncan,Emma L. Duncan,Emma L. Duncan,Edgar A. Otto,Philip L. Beales,Hannah M. Mitchison,Sophie Saunier,Friedhelm Hildebrandt,Friedhelm Hildebrandt +55 more
TL;DR: In this article, the authors identify defects in IFT-B components as a cause of complex thoracic dystrophy and MZSDS, and link the group of skeletal ciliopathies to an additional IFTB component, IFT172, similar to what has been shown for IFTA.
Journal ArticleDOI
Mutation-dependent recessive inheritance of NPHS2 -associated steroid-resistant nephrotic syndrome
Kálmán Tory,Dóra K. Menyhárd,Stéphanie Woerner,Fabien Nevo,Olivier Gribouval,Andrea Kerti,Pál Stráner,Christelle Arrondel,Evelyne Huynh Cong,Tivadar Tulassay,Géraldine Mollet,András Perczel,Corinne Antignac +12 more
TL;DR: It is shown that, contrary to expectations, this allele leads to a disease phenotype only when it is associated specifically with certain 3′ NPHS2 mutations because of an altered heterodimerization and mislocalization of the encoded p.Arg229Gln podocin.