Nikoletta Nagy

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Multiple familial trichoepithelioma type 1 (MFT1; MIM 601606), a rare monogenic skin disease with autosomal dominant inheritance, is characterized by the development of multiple skin-colored papules on the central area of the face, frequently occurring in the nasolabial area. The disease is associated with various mutations in the cylindromatosis (CYLD; MIM(More)
Epidermolysis bullosa pruriginosa (EBP; OMIM #604129) is an unusual variant of autosomal dominant (or occasionally recessive) dystrophic epidermolysis bullosa (DEB) in which intense itching and scratching impacts upon the phenotype (1, 2). Although trauma-induced blistering often occurs, and toenail dystrophy is almost universal, the skin lesions can often(More)
Papillon-Lefèvre syndrome (PLS; OMIM 245000) is an autosomal recessive condition characterized by palmoplantar hyperkeratosis and periodontitis. In 1997, the gene locus for PLS was mapped to 11q14-21, and in 1999, variants in the cathepsin C gene (CTSC) were identified as causing PLS. To date, a total of 75 different disease-causing mutations have been(More)
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the death of motor neurons. To date, more than 20 genes have been implicated in ALS, and of these, the 2 most frequently mutated are the superoxide dismutase 1 (SOD1) gene and the chromosome 9 open reading frame 72 (C9ORF72) gene. In this study, we aimed to investigate the(More)
Introduction Neuropilin-1 (NRP1), a membrane-bound non-tyrosine kinase acts as a co-receptor for vascular endothelial growth factor receptor 2 (VEGFR-2) and type-A plexins mediating the effects of ligands such as vascular endothelial growth factor 165 (VEGF 165) and semaphorin 3A (SEMA-3A) [1-3]. NRP1 has a key role in angiogenesis, axon guidance, embryonic(More)
BACKGROUND Oculocutaneous albinism (OCA) is a clinically and genetically heterogenic group of pigmentation abnormalities. OCA type IV (OCA4, OMIM 606574) develops due to homozygous or compound heterozygous mutations in the solute carrier family 45, member 2 (SLC45A2) gene. This gene encodes a membrane-associated transport protein, which regulates tyrosinase(More)
Angelman syndrome is a rare neurogenetic disorder that results in intellectual and developmental disturbances, seizures, jerky movements and frequent smiling. Angelman syndrome is caused by two genetic disturbances: either genes on the maternally inherited chromosome 15 are deleted or inactivated or two paternal copies of the corresponding genes are(More)
Nemaline myopathy is a type of the heterogeneous group of congenital myopathies. Generalized hypotonia, weakness, and delayed motor development are the main clinical features of the typical congenital form. Histopathology shows characteristic nemaline rods in the muscle biopsy. Mutations in at least 7 genes, including nebulin gene (NEB), proved to be(More)
BACKGROUND Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the degeneration of the motor neurons. To date, 126 genes have been implicated in ALS. Therefore, the heterogenous genetic background of ALS requires comprehensive genetic investigative approaches. METHODS In this study, DNA from 28 Hungarian ALS patients was(More)