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Nikoletta Nagy

Szent-Györgyi Albert Medical School, University of Szeged

Hungary

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Research Interests

Cell Biology

40%

Biochemistry

30%

Medical Science

90%

Osteogenesis Imperfecta

50%

Mutagenesis

40%

Rare Disease

40%

Genetic

30%

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Articles17

Truncating CYLD Pathogenic Variants in CYLD Cutaneous Syndrome Distinctly Influence CYLD Proteostasis and NF-κB Signaling

Year:

2025

Novel Pathogenic Variant of the TRRAP Gene Detected in a Hungarian Family with Autosomal Dominant Non-Syndromic Hearing Loss

Year:

2025

Novel Variants in Medium and Low Penetrance Predisposing Genes in a Hungarian Malignant Melanoma Cohort With Increased Risk

Year:

2025

Timely recognition of a probably life-threatening genodermatosis: familial case report of hereditary leiomyomatosis and renal cell cancer

Year:

2025

Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease

Year:

2024

A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder

Year:

2024

Novel FANCI and RAD54B Variants and the Observed Clinical Outcomes in a Hungarian Melanoma Cohort

Year:

2024

Whole-Exome Sequencing Identified Two Novel Pathogenic Mutations in the PTCH1 Gene in BCNS

Year:

2023

Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients

Year:

2023

Homozygous ITGA3 Missense Mutation in Adults in a Family with Syndromic Epidermolysis Bullosa (ILNEB) without Pulmonary Involvement

Year:

2021

Homozygous ITGA3 Missense Mutation in Adults in a Family with Syndromic Epidermolysis Bullosa (ILNEB) without Pulmonary Involvement

Year:

2021

TRAF3 and NBR1 both influence the effect of the disease‐causing CYLD(Arg936X) mutation on NF‐κB activity

Year:

2021

TRAF3 and NBR1 both influence the effect of the disease-causing CYLD(Arg936X) mutation on NF-kappa B activity

Year:

2021

Report of a Novel ALOX12B Mutation in Self-Improving Collodion Ichthyosis with an Overview of the Genetic Background of the Collodion Baby Phenotype.

Year:

2021

Report of a Novel ALOX12B Mutation in Self-Improving Collodion Ichthyosis with an Overview of the Genetic Background of the Collodion Baby Phenotype

Year:

2021

Identification of putative phenotype‐modifying genetic factors associated with phenotypic diversity in Brooke‐Spiegler syndrome

Year:

2020

Identification of putative phenotype-modifying genetic factors associated with phenotypic diversity in Brooke-Spiegler syndrome

Year:

2020

Collaborators5

Judit Danis

assistant professor

University of Szeged

HUNGARY

Neil Rajan

Newcastle University

UNITED KINGDOM

Stefanie Fenske

Ludwig-Maximilians-Universität München

GERMANY

Rolland Gyulai

Professor

University of Pécs, Medical School

HUNGARY

Márta Medvecz

Semmelweis University

HUNGARY

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