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Articles by Margit Pál
Novel Pathogenic Variant of the TRRAP Gene Detected in a Hungarian Family with Autosomal Dominant Non-Syndromic Hearing Loss
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Novel Variants in Medium and Low Penetrance Predisposing Genes in a Hungarian Malignant Melanoma Cohort With Increased Risk
Conflicts of Interest The authors declare no conflicts of interest. References , , , et al. 2001. “Mutation Analysis of the Tyrosinase Gene in Oculocutaneous Albinism.” Human Mutation 17, no. 4: 352. https://doi.org/10.1002/humu.38. , , , and . 2018. “Male BRCA Mutation Carriers: Clinical Characteristics and Cancer Spectrum.” BMC Cancer 18, no. 1: 179. https://doi.org/10.1186/s12885-018-4098-y. , , , et al. 2013. “A Variant in FTO Shows Association With Melanoma Risk Not due to BMI.” Nature Genetics 45, no.
IJMS | Free Full-Text | Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease
All articles published by MDPI are made immediately available worldwide under an open access license. No special permission is required to reuse all or part of the article published by MDPI, including figures and tables. For articles published under an open access Creative Common CC BY license, any part of the article may be reused without permission provided that the original article is clearly cited. For more information, please refer to https://www.mdpi.com/openaccess.
Genetic Screening of a Hungarian Cohort with Focal Dystonia Identified Several Novel Putative Pathogenic Gene Variants
Abstract : Dystonia is a rare movement disorder which is characterized by sustained or intermittent muscle contractions causing abnormal and often repetitive movements, postures, or both. The two most common forms of adult-onset focal dystonia are cervical dystonia (CD) and benign essential blepharospasm (BSP). A total of 121 patients (CD, 74; BSP, 47) were included in the study. The average age of the patients was 64 years.
Whole-Exome Sequencing Identified Two Novel Pathogenic Mutations in the PTCH1 Gene in BCNS
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Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients
Abstract : Hearing loss is the most prevalent sensory disorder worldwide. The majority of congenital nonsyndromic hearing loss (NSHL) cases are caused by hereditary factors. Previously, the majority of NSHL studies focused on the GJB2 gene; however, with the availability of next-generation sequencing (NGS) methods, the number of novel variants associated with NSHL has increased.
Likely Pathogenic Variants of Cav1.3 and Nav1.1 Encoding Genes in Amyotrophic Lateral Sclerosis Could Elucidate the Dysregulated Pain Pathways
2.1. Analysis of the Cav1.3 and Cav1.2 Channels Encoding Gene By reanalyzing the whole exome sequencing data of 21 ALS patients, a total of 6 CACNA1D variants were revealed: one pathogenic variant confirmed by functional studies, one likely pathogenic, three variants of uncertain significance and a further likely benign variant. All six variants were present in separate patients respectively; no patients were identified to carry more than one CACNA1D variant.
Developmental and tissue specific changes of ubiquitin forms in Drosophila melanogaster
Abstract In most Eukaryotes, ubiquitin either exists as free monoubiquitin or as a molecule that is covalently linked to other proteins. These two forms cycle between each other and due to the concerted antagonistic activity of ubiquitylating and deubiquitylating enzymes, an intracellular ubiquitin equilibrium is maintained that is essential for normal biological function. However, measuring the level and ratio of these forms of ubiquitin has been difficult and time consuming.
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