Judit Horvath
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Explore the profile of Judit Horvath including associated specialties, affiliations and a list of published articles.
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99
Citations
1824
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Recent Articles
1.
Guillouet C, Agostini V, Baujat G, Cocciadiferro D, Pippucci T, Lesieur-Sebellin M, et al.
Am J Hum Genet
. 2025 Mar;
PMID: 40081376
The Mediator complex regulates protein-coding gene transcription by coordinating the interaction of upstream enhancers with the basal transcription machinery at the promoter. Pathogenic variants in Mediator subunits typically lead to...
2.
Horvath J, Seres I, Paragh G, Fulop P, Jenei Z
Nutrients
. 2024 Dec;
16(23.
PMID: 39683642
Background: Obesity poses an enormous public health and economic burden worldwide. Visceral fat accumulation is associated with various metabolic and cardiovascular consequences, resulting in an increased prevalence of atherosclerotic conditions....
3.
Li S, Madanat-Harjuoja L, Leslie G, Barnes D, Bolla M, Dennis J, et al.
J Natl Cancer Inst
. 2024 Nov;
PMID: 39585318
Background: Whether carriers of BRCA1 or BRCA2 (BRCA1/2) pathogenic variants (PVs) have increased risks of childhood, adolescent, and young adult (CAYA) cancers is controversial. We aimed to evaluate this risk...
4.
Zachariae S, Quante A, Kiechle M, Rhiem K, Fehm T, Schroder J, et al.
Cancer Prev Res (Phila)
. 2024 Nov;
18(2):85-92.
PMID: 39575650
The German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC) has successfully implemented risk-adapted breast cancer surveillance for women at high breast cancer risk in Germany. Women with a family...
5.
Bassani S, Chrast J, Ambrosini G, Voisin N, Schutz F, Brusco A, et al.
Genome Med
. 2024 May;
16(1):72.
PMID: 38811945
Background: We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney, caused by de novo variants in the degron of...
6.
Jones A, Aquilino M, Tinker R, Duncan L, Jenkins Z, Carvill G, et al.
Am J Hum Genet
. 2024 Apr;
111(4):729-741.
PMID: 38579670
Glutamine synthetase (GS), encoded by GLUL, catalyzes the conversion of glutamate to glutamine. GS is pivotal for the generation of the neurotransmitters glutamate and gamma-aminobutyric acid and is the primary...
7.
Ebstein F, Latypova X, Sharon Hung K, Prado M, Lee B, Moller S, et al.
Genet Med
. 2024 Mar;
26(6):101120.
PMID: 38469793
Purpose: Imbalances in protein homeostasis affect human brain development, with the ubiquitin-proteasome system (UPS) and autophagy playing crucial roles in neurodevelopmental disorders (NDD). This study explores the impact of biallelic...
8.
Bassani S, Chrast J, Ambrosini G, Voisin N, Schutz F, Brusco A, et al.
medRxiv
. 2024 Jan;
PMID: 38293053
Background: We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney,caused by variants in the degron of AFF3. Mouse knock-ins...
9.
Hieb A, Horvath J, Rea J, Tam T, Chang D, de Jong I, et al.
J Control Release
. 2023 Dec;
366:170-181.
PMID: 38128885
The Port Delivery System with ranibizumab (PDS) is an innovative intraocular drug delivery system that has the potential to reduce treatment burden in patients with retinovascular diseases. The Port Delivery...
10.
Mertens J, Bommer M, Regier M, Gabriels G, Pavenstadt H, Grunewald I, et al.
Z Gastroenterol
. 2023 Oct;
62(6):935-943.
PMID: 37871633
Liver injury associated with selective androgen receptor modulators (SARMs) is an issue that has not been reported often. We report a case of a previously healthy 24-year-old male, who was...