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The genetic and clinical spectrum in a cohort of 39 families with complex inherited peripheral neuropathies
With complicated conditions and a large number of potentially causative genes, the diagnosis of a patient with complex inherited peripheral...
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Genetic analyses implicate complex links between adult testosterone levels and health and disease
BackgroundTestosterone levels are linked with diverse characteristics of human health, yet, whether these associations reflect correlation or...
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Genetic and chemical targeting of the ATPase complex TIP48 and 49 impairs acute myeloid leukemia
The chromatin-associated AAA+ ATPases Tip48 and Tip49 are the core components of various complexes implicated in diverse nuclear events such as DNA...
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Genetic overlap between Alzheimer’s disease and immune-mediated diseases: an atlas of shared genetic determinants and biological convergence
The occurrence of immune disease comorbidities in Alzheimer’s disease (AD) has been observed in both epidemiological and molecular studies,...
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Understanding the Genetic and Non-Genetic Interconnections in the Aetiology of Syndromic Congenital Heart Disease: An Updated Review: Part 2
Purpose of ReviewApproximately 30% of syndromic cases diagnosed with CHD, which lure us to further investigate the molecular and clinical challenges...
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Complex genetic and histopathological study of 15 patient-derived xenografts of aggressive lymphomas
Non-Hodgkin lymphomas (NHL) represent the most common hematologic malignancies. Patient-derived xenografts (PDXs) are used for various aspects of...
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Understanding the Genetic and Non-genetic Interconnections in the Aetiology of Isolated Congenital Heart Disease: An Updated Review: Part 1
Purpose of ReviewCongenital heart disease (CHD) is the most frequently occurring birth defect. Majority of the earlier reviews focussed on the...
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Genetics and genetic diagnosis of focal childhood epilepsy
Self-limiting focal epilepsies are among the most common forms of epilepsy in children. Based on family studies, a genetic basis is assumed for the...
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Genetic analysis of 18 families with tuberous sclerosis complex
Tuberous sclerosis complex (TSC) is mainly caused by variants in TSC1 and TSC2, which encodes hamartin protein and tuberin protein, respectively....
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Updates on Rare Genetic Variants, Genetic Testing, and Gene Therapy in Individuals With Obesity
Purpose of ReviewThe goal of this paper is to aggregate information on monogenic contributions to obesity in the past five years and to provide...
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Dichorionic Diamniotic Twin Pairs with Complex Congenital Heart Disease
Complex congenital heart disease (CHD) in each of dichorionic diamniotic (DiDi) twin pairs is extremely rare and has not been well characterized....
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Genetic architecture of childhood speech disorder: a review
Severe speech disorders lead to poor literacy, reduced academic attainment and negative psychosocial outcomes. As early as the 1950s, the familial...
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Genetic mechanisms in generalized epilepsies
The genetic generalized epilepsies (GGEs) have been proved to generate from genetic impact by twin studies and family studies. The genetic mechanisms...
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Exploring genetic testing requests, genetic alterations and clinical associations in a cohort of children with autism spectrum disorder
Several studies show great heterogeneity in the type of genetic test requested and in the clinicopathological characteristics of patients with ASD....
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Influences of Genetic and Environmental Factors on Chronic Migraine: A Narrative Review
Purpose of ReviewIn this narrative review, we aim to summarize recent insights into the complex interplay between environmental and genetic factors...
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GBA-associated Parkinson’s disease in Hungary: clinical features and genetic insights
IntroductionParkinson’s disease (PD) has a complex genetic background involving both rare and common genetic variants. Although a small percentage of...
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From Atherosclerosis to Spontaneous Coronary Artery Dissection: Defining a Clinical and Genetic Risk Spectrum for Myocardial Infarction
Purpose of ReviewSpontaneous coronary artery dissection (SCAD) has been increasingly recognized as a significant cause of acute myocardial infarction...
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Genetic and Molecular Contributors in Eosinophilic Esophagitis
Purpose of ReviewEosinophilic esophagitis (EoE) is an allergic inflammatory esophageal disorder with a complex underlying genetic and molecular...
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Genetic overlap between schizophrenia and cognitive performance
Schizophrenia (SCZ), a highly heritable mental disorder, is characterized by cognitive impairment, yet the extent of the shared genetic basis between...
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Hereditary or acquired? Comprehensive genetic testing assists in stratifying angioedema patients
Hereditary angioedema (HAE) poses diagnostic challenges due to its episodic, non-specific symptoms and overlap** conditions. This study focuses on...
