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Article ; Online: Throwing off the keratin chains: a potential therapy for hereditary podocytopathy.

Tory, Kálmán

2024 Volume 105, Issue 4, Page(s) 663–665

Abstract: In the current issue, Kuzmuk et al. offer a therapeutic option for patients with NPHS2 R138Q-associated nephrotic syndrome. For the first time in hereditary podocytopathies, this is offered by restoring the membrane targeting of a pathogenic protein. The ...

Abstract	In the current issue, Kuzmuk et al. offer a therapeutic option for patients with NPHS2 R138Q-associated nephrotic syndrome. For the first time in hereditary podocytopathies, this is offered by restoring the membrane targeting of a pathogenic protein. The idea that it is enough to liberate podocin from the trap of keratin 8, a key member of endoplasmic-reticulum-associated protein degradation complex, was brilliantly recognized based on former results obtained in cystic fibrosis.
MeSH term(s)	Humans ; Keratins/therapeutic use ; Nephrotic Syndrome/drug therapy ; Nephrotic Syndrome/genetics ; Mutation
Chemical Substances	Keratins (68238-35-7)
Language	English
Publishing date	2024-02-17
Publishing country	United States
Document type	Journal Article
ZDB-ID	120573-0
ISSN	1523-1755 ; 0085-2538
ISSN (online)	1523-1755
ISSN	0085-2538
DOI	10.1016/j.kint.2024.01.029
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Zs.A 797: Show issues

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Article ; Online: The dominant findings of a recessive man: from Mendel's kid pea to kidney.

Tory, Kálmán

Pediatric nephrology (Berlin, Germany)

2023

Abstract: The research of Mendel, born two centuries ago, still has many direct implications for our everyday clinical work. He introduced the terms "dominant" and "recessive" characters and determined their 3:1 ratio in the offspring of heterozygous "hybrid" ... ...

Abstract	The research of Mendel, born two centuries ago, still has many direct implications for our everyday clinical work. He introduced the terms "dominant" and "recessive" characters and determined their 3:1 ratio in the offspring of heterozygous "hybrid" plants. This distribution allowed calculation of the number of the phenotype-determining "elements," i.e., the alleles, and has been used ever since to prove the monogenic origin of a disorder. The Mendelian inheritance of monogenic kidney disorders is still of great help in distinguishing them from those with multifactorial origin in clinical practice. Inheritance of most monogenic kidney disorders fits to Mendel's observations: the equal contribution of the two parents and the complete penetrance or the direct correlation between the frequency of the recessive character and the degree of inbreeding. Nevertheless, beyond the truth of these basic concepts, several observations have expanded their genetic characteristics. The extreme genetic heterogeneity, the pleiotropy of the causal genes and the role of modifiers in ciliopathies, the digenic inheritance and parental imprinting in some tubulopathies, and the incomplete penetrance and eventual interallelic interactions in podocytopathies, reflect this expansion. For all these reasons, the transmission pattern in a natural setting may depend not only on the "character" but also on the causal gene and the variant. Mendel's passion for research combined with his modest personality and meticulous approach can still serve as an example in the work required to understand the non-Mendelian universe of genetics.
Language	English
Publishing date	2023-12-05
Publishing country	Germany
Document type	Journal Article
ZDB-ID	631932-4
ISSN	1432-198X ; 0931-041X
ISSN (online)	1432-198X
ISSN	0931-041X
DOI	10.1007/s00467-023-06238-9
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Article ; Online: The importance of pseudouridylation: human disorders related to the fifth nucleoside.

Keszthelyi, Tália Magdolna / Tory, Kálmán

Biologia futura

2023 Volume 74, Issue 1-2, Page(s) 3–15

Abstract: Pseudouridylation is one of the most abundant RNA modifications in eukaryotes, making pseudouridine known as the "fifth nucleoside." This highly conserved alteration affects all non-coding and coding RNA types. Its role and importance have been ... ...

Abstract	Pseudouridylation is one of the most abundant RNA modifications in eukaryotes, making pseudouridine known as the "fifth nucleoside." This highly conserved alteration affects all non-coding and coding RNA types. Its role and importance have been increasingly widely researched, especially considering that its absence or damage leads to serious hereditary diseases. Here, we summarize the human genetic disorders described to date that are related to the participants of the pseudouridylation process.
MeSH term(s)	Humans ; Nucleosides ; RNA Processing, Post-Transcriptional ; RNA
Chemical Substances	Nucleosides ; RNA (63231-63-0)
Language	English
Publishing date	2023-03-31
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2987596-1
ISSN	2676-8607 ; 2676-8615
ISSN (online)	2676-8607
ISSN	2676-8615
DOI	10.1007/s42977-023-00158-3
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Article ; Online: Critical Considerations in Genetic Counseling of Patients With the NPHS2 R229Q Variant.

Tory, Kalman

American journal of kidney diseases : the official journal of the National Kidney Foundation

2019 Volume 73, Issue 4, Page(s) 576

MeSH term(s)	Genetic Counseling ; Glomerulosclerosis, Focal Segmental ; Humans ; Mutation ; Nephrotic Syndrome
Language	English
Publishing date	2019-02-15
Publishing country	United States
Document type	Letter ; Comment
ZDB-ID	604539-x
ISSN	1523-6838 ; 0272-6386
ISSN (online)	1523-6838
ISSN	0272-6386
DOI	10.1053/j.ajkd.2018.11.013
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Zs.A 1669: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population-genetic approach.

Mikó, Ágnes / Kaposi, Ambrus / Schnabel, Karolina / Seidl, Dániel / Tory, Kálmán

Human mutation

2021 Volume 42, Issue 11, Page(s) 1473–1487

Abstract: We aimed to identify incompletely penetrant (IP) variants and interallelic interactions in autosomal recessive disorders by a population-genetic approach. Genotype and clinical data were collected from 9038 patients of European origin with ASL, ATP7B, ... ...

Abstract	We aimed to identify incompletely penetrant (IP) variants and interallelic interactions in autosomal recessive disorders by a population-genetic approach. Genotype and clinical data were collected from 9038 patients of European origin with ASL, ATP7B, CAPN3, CFTR, CTNS, DHCR7, GAA, GALNS, GALT, IDUA, MUT, NPHS1, NPHS2, PAH, PKHD1, PMM2, or SLC26A4-related disorders. We calculated the relative allele frequency of each pathogenic variant (n = 1936) to the loss-of-function (LOF) variants of the corresponding gene in the patient (
MeSH term(s)	Alleles ; Cohort Studies ; Female ; Genes, Lethal ; Genes, Recessive ; Genetic Diseases, Inborn/genetics ; Genetics, Population ; Humans ; Male
Language	English
Publishing date	2021-08-28
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1126646-6
ISSN	1098-1004 ; 1059-7794
ISSN (online)	1098-1004
ISSN	1059-7794
DOI	10.1002/humu.24273
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Zs.A 3586: Show issues

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Article ; Online: Arthrogryposis–renal dysfunction–cholestasis syndrome

Mikó, Ágnes / Lóth, Szendile / Müller, Judit / Lotz, Bence / Rossitto, Patrizio / Szabolcs, Andrea / Benyó, Gábor / Jávorszky, Eszter / Tory, Kálmán / Dezsőfi, Antal

Orvosi hetilap

2022 Volume 163, Issue 2, Page(s) 74–78

Abstract: Összefoglaló. Az arthrogryposis-renalis diszfunkció-cholestasis (ARC) szindróma igen rossz prognózisú autoszomális recesszív kórkép. A három vezető tünethez társulhat központi idegrendszeri érintettség, siketség, cardiovascularis anomália (pitvari és ... ...

Title translation	Arthrogryposis-renalis diszfunkció-cholestasis szindróma.
Abstract	Összefoglaló. Az arthrogryposis-renalis diszfunkció-cholestasis (ARC) szindróma igen rossz prognózisú autoszomális recesszív kórkép. A három vezető tünethez társulhat központi idegrendszeri érintettség, siketség, cardiovascularis anomália (pitvari és kamrai sövényhiány), thrombocytafunkció-zavar, rekurrens szepszisek, ichthyosis, valamint súlyfejlődésben való elmaradás. A háromnapos újszülöttet neuromuscularis betegség gyanúja miatt vettük át a szülészeti intézményből. Fizikális vizsgálat során pes equinovarust és hypotrophiás küllemet tapasztaltunk. Kéthetes korában súlyos tubulopathia, valamint cholestasis igazolódott normális gamma-glutamil-transzferáz-szint mellett. A perifériás vérkenet vizsgálata során abnormális morfológiájú thrombocyták ábrázolódtak. Súlygyarapodást komplex felépített enteralis és parenteralis táplálás segítségével sem sikerült elérni. Három hónapos korára a gyermek súlya 15%-kal a születési súlya alatt volt. A kórkép szövődményeként ismétlődő bakteriális véráramfertőzés súlyosbította az állapotát. Az újszülött klinikai képe az ARC-szindrómának felelt meg. A kóroki gének szekvenálása során a VPS33B-génben homozigóta c.498+1G>T variáns igazolódott, mely igazolja a betegség fennállását. Orv Hetil. 2022; 163(2): 74-78. Summary. Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is an autosomal recessive multisystem disorder that typically presents with arthrogryposis, renal tubular leak and neonatal cholestatic jaundice. It can be accompanied by nervous system abnormalities, deafness, structural cardiac defects, abnormal platelet morphology, recurrent sepsis, ichthyosis and failure to thrive. The three-day-old neonate was admitted for a suspected neuromuscular disorder. On examination, clubfoot, jaundice and hypotonia were found. Laboratory evaluation revealed tubulopathy and cholestasis with normal gamma-glutamyl transferase level. Peripheral blood smear evaluation revealed abnormally giant platelets. Despite the combined enteral and parenteral nutrition, the infant experienced severe failure to thrive. The phenotype of the presented neonate is consistent with ARC syndrome. Sequencing of the causal genes revealed a homozygous consensus splice site VPS33B mutation (c.498+1G>T), confirming the clinical diagnosis. Orv Hetil. 2022; 163(2): 74-78.
MeSH term(s)	Arthrogryposis ; Cholestasis ; Humans ; Renal Insufficiency ; Syndrome ; Vesicular Transport Proteins
Chemical Substances	VPS33B protein, human ; Vesicular Transport Proteins
Language	Hungarian
Publishing date	2022-01-09
Publishing country	Hungary
Document type	Journal Article
ZDB-ID	123879-6
ISSN	1788-6120 ; 0030-6002
ISSN (online)	1788-6120
ISSN	0030-6002
DOI	10.1556/650.2022.32312
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Article ; Online: Examination of Subbasal Nerve Plexus and Central Corneal Stromal Microstructure in Subjects With Congenital Aniridia, Using

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

Current eye research

2024 , Page(s) 1–9

Abstract: Purpose: During life up to 70% of aniridia subjects develop aniridia-associated keratopathy (AAK). AAK is characterized by limbal stem cell insufficiency, impaired corneal epithelial cell differentiation and abnormal cell adhesion, which leads to ... ...

Abstract	Purpose: During life up to 70% of aniridia subjects develop aniridia-associated keratopathy (AAK). AAK is characterized by limbal stem cell insufficiency, impaired corneal epithelial cell differentiation and abnormal cell adhesion, which leads to centripetal spreading vascularization, conjunctivalization, and thickening of the cornea. Our aim was to examine the subbasal nerve plexus and central corneal stromal microstructure in subjects with congenital aniridia, using Methods: 31 eyes of 18 patients (55.6% males, mean age: 25.22 ± 16.35 years) with congenital aniridia and 46 eyes of 29 healthy subjects (41.4% males, mean age 30 ± 14.82 years) were examined using the Rostock Cornea Module of Heidelberg Retina Tomograph-III. At the subbasal nerve plexus, corneal nerve fiber density (CNFD), corneal nerve fiber length (CNFL), corneal total branch density (CTBD), and corneal nerve fiber width (CNFW) were analyzed using ACCMetrics software. Keratocyte density in the anterior, middle and posterior stroma was assessed manually. Results: The CNFD (2.02 ± 4.08 vs 13.99 ± 6.34/mm Conclusions: Decrease in CNFD, CNFL, and CTBD, as well as increase in CNFW well refer to the congenital aniridia-associated neuropathy. The decreased keratocyte density and the stromal alterations may be related to an increased cell death in congenital aniridia, nevertheless, stromal changes in different stages of AAK have to be further analyzed in detail.
Language	English
Publishing date	2024-03-05
Publishing country	England
Document type	Journal Article
ZDB-ID	82079-9
ISSN	1460-2202 ; 0271-3683
ISSN (online)	1460-2202
ISSN	0271-3683
DOI	10.1080/02713683.2024.2320779
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Article ; Online: 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

Annals of human genetics

2019 Volume 84, Issue 1, Page(s) 80–86

Abstract: 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) mutation, affecting the penultimate nucleotide and the splicing of exon 2 is the most common ... ...

Abstract	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) mutation, affecting the penultimate nucleotide and the splicing of exon 2 is the most common mutation of EPG5 and is typically associated with a less devastating prognosis: cardiomyopathy and cataract are less frequent consequences and the median survival time is 78 months compared to an overall median survival of 42 months. The less severe course related to c.1007A > G was formerly explained by the preserved canonical splicing in 25% of the transcripts. In contrast, we found the messenger RNA encoded by the c.1007A > G allele to be absent, explaining the severe course of the disease. This family provides another example of phenotypic variability related to a differential splicing.
MeSH term(s)	Adolescent ; Agenesis of Corpus Callosum/genetics ; Agenesis of Corpus Callosum/pathology ; Autophagy-Related Proteins/genetics ; Cataract/genetics ; Cataract/pathology ; Disease Progression ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Mutation ; Prognosis ; RNA Splicing ; Siblings ; Survival Rate ; Vesicular Transport Proteins/genetics
Chemical Substances	Autophagy-Related Proteins ; EPG5 protein, human ; Vesicular Transport Proteins
Language	English
Publishing date	2019-06-11
Publishing country	England
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	333-5
ISSN	1469-1809 ; 0003-4800
ISSN (online)	1469-1809
ISSN	0003-4800
DOI	10.1111/ahg.12337
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Article ; Online: Congenitalis aniridia – egy spektrumbetegség magyarországi adatai.

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

Orvosi hetilap

2023 Volume 164, Issue 4, Page(s) 148–155

Abstract: Introduction: Congenital aniridia is a rare disease, characterised by the complete or partial absence of the iris, but lesions may be present in all structures of the eye.: Objective: To determine the prevalence of ocular diseases in congenital ... ...

Title translation	Congenital aniridia - Hungarian data of a spectrum disease.
Abstract	Introduction: Congenital aniridia is a rare disease, characterised by the complete or partial absence of the iris, but lesions may be present in all structures of the eye. Objective: To determine the prevalence of ocular diseases in congenital aniridia by analyzing patients from a Hungarian centre. Patients and methods: Patients at the Department of Ophthalmology of Semmelweis University, examined between October 2005 and May 2022, have been included. After taking the patients' medical history, a detailed ophthalmological examination has been performed. Results: Of the 82 patients in the database, 33 (age 25.69 ± 17.49 [5-59] years, 17 females [51.51%]) presented for examination and 65 eyes were examined. Nystagmus was found in 45 eyes of 23 patients (69.23%), and the patients' uncorrected distance visual acuity was 0.14 ± 0.128 (0.9 logMAR; 0.63-0.005). The aniridia-associated keratopathy was Grade 0 in 8 eyes (12.3%), Grade 1 in 10 eyes (15.38%), Grade 2 in 16 eyes (24.62%), Grade 3 in 4 eyes (6.15%) and Grade 4 in 25 eyes (38.46%). 30 eyes (46.15%) of 15 patients had secondary glaucoma, 6 eyes (9.2%) of 3 patients were glaucoma suspect. 8 eyes (12.3%) had a clear lens, 44 eyes (67.69%) had cataract, of which 22 (33.84%) were anterior cortical polar cataracts. 13 eyes (20%) were pseudophakic (PCL) and 7 eyes (10.77%) had lens dislocation or zonular insufficiency. Macular hypoplasia was found in 6 eyes of 3 patients (4.6%) and optic nerve head malformation in 2 eyes of 1 patient (3.03%). Conclusion: The ocular signs of congenital aniridia are aniridia-associated keratopathy, secondary glaucoma, cataract, macular and optic nerve head hypoplasia. Systematic collaboration of different ophthalmological specialties is required for the management and care of all these ocular abnormalities. Orv Hetil. 2023; 164(4): 148-155.
MeSH term(s)	Female ; Humans ; Child ; Adolescent ; Young Adult ; Adult ; Hungary/epidemiology ; Aniridia/complications ; Aniridia/epidemiology ; Aniridia/genetics ; Cataract ; Glaucoma/complications ; Vision Disorders ; Corneal Diseases
Language	Hungarian
Publishing date	2023-01-29
Publishing country	Hungary
Document type	English Abstract ; Journal Article
ZDB-ID	123879-6
ISSN	1788-6120 ; 0030-6002
ISSN (online)	1788-6120
ISSN	0030-6002
DOI	10.1556/650.2023.32697
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Article ; Online: Az aniridiához társult keratopathia stádiumbeosztása.

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

Orvosi hetilap

2023 Volume 164, Issue 27, Page(s) 1063–1069

Abstract: Introduction: Congenital aniridia is a rare panocular disease that affects almost all eye structures leading in most patients to reduced visual acuity. Ophthalmological signs include aniridia-associated keratopathy, secondary glaucoma, cataract, macular ...

Title translation	Staging of aniridia-associated keratopathy.
Abstract	Introduction: Congenital aniridia is a rare panocular disease that affects almost all eye structures leading in most patients to reduced visual acuity. Ophthalmological signs include aniridia-associated keratopathy, secondary glaucoma, cataract, macular and optic nerve head hypoplasia, nystagmus. Although the term aniridia-associated keratopathy has long been used in the literature, various staging proposals have been described. Objective: To analyze aniridia-associated keratopathy stages, using available literature classifications, in patients with aniridia in Hungary. Patients and methods: We examined 65 eyes of 33 patients with congenital aniridia (age: 25.69 ± 17.49 [5-59] years, 17 females [51.51%]). We recorded the corneal status by slit-lamp examination and classified the corneal abnormalities according to the Mackman, Mayer, López-García and Lagali staging. Results: According to Mackman's classification, 8 eyes (12.3%) were in stage 0, 0 eye in stage 1A, 38 eyes (58.46%) in stage 1B and 19 eyes (29.23%) in stage 2. According to Mayer, stage I included 8 eyes (12.3%), stage II 38 eyes (58.46%), stage III 5 eyes (7.7%), stage IV 7 eyes (10.77%) and stage V 7 eyes (10.77%). In López-García's classification, 8 eyes (12.3%) could not be grouped, 20 eyes (30.77%) were in stage 1, 18 eyes (27.7%) in stage 2 and 19 eyes (29.3%) in stage 3. Lagali's classification included 8 eyes (12.3%) in stage 0, 20 eyes (30.77%) in stage 1, 18 eyes (27.7%) in stage 2, 5 eyes (7.7%) in stage 3 and 14 eyes (21.54%) in stage 4. Conclusion: We recommend using Lagali's staging scheme for aniridia-associated keratoptahy due to its ease of use, detailed progression assessment, and treatment planning. In stage 1 according to Lagali, blood vessels cross the limbus by up to 1 mm, in stage 2 the central 2-3 mm of the corneal area is spared of blood vessels. When the blood vessels reach the center of the cornea, it is stage 3, followed by opaque, uneven corneal pannus in stage 4. Orv Hetil. 2023; 164(27): 1063-1069.
MeSH term(s)	Female ; Humans ; Child ; Adolescent ; Young Adult ; Adult ; Corneal Diseases/etiology ; Aniridia/complications ; Aniridia/diagnosis ; Cornea ; Vision Disorders ; Cataract
Language	Hungarian
Publishing date	2023-07-09
Publishing country	Hungary
Document type	English Abstract ; Journal Article
ZDB-ID	123879-6
ISSN	1788-6120 ; 0030-6002
ISSN (online)	1788-6120
ISSN	0030-6002
DOI	10.1556/650.2023.32803
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