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Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study
Translation elongation factor eEF1A2 constitutes the alpha subunit of the elongation factor-1 complex, responsible for the enzymatic binding of...
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Genotype–Phenotype Association in ABCA4-Associated Retinopathy
Stargardt disease (STGD1) is the most common inherited retina degeneration. It is caused by biallelic ABCA4 variants, and no treatment is available...
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Glial Phenotype Plasticity
This chapter summarizes the information from the previous chapters. Due to their specific position and role in a functional circuit, neurons have a...
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Microbiome in Lean Individuals: Phenotype-Specific Risks and Outcomes
Many studies provided strong evidence that thinness as a potential individual underweight is an overlooked phenomenon in terms of health risks...
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Induction of the Cholinergic Phenotype in Mouse Neuroblastoma Cells Using Nerve Growth Factor
Abstract —Nerve growth factor (NGF) is a factor which determines neuronal differentiation. NGF plays an important role in growth and differentiation...
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Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations
Myhre syndrome (MS, MIM 139210) is a rare multisystemic disorder caused by recurrent pathogenic missense variants in SMAD4 . The clinical features...
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Reactive Microglia and Astrocyte Phenotype Transitions: A Framework
This chapter gives an overview of the reactions of microglia and astrocytes to pathological events. In the focus are the microglia as they are...
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Macrophage metabolism, phenotype, function, and therapy in hepatocellular carcinoma (HCC)
The pivotal role of the tumor microenvironment (TME) in the initiation and advancement of hepatocellular carcinoma (HCC) is widely acknowledged, as...
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DNA hypomethylator phenotype reprograms glutamatergic network in receptor tyrosine kinase gene-mutated glioblastoma
DNA methylation is crucial for chromatin structure and gene expression and its aberrancies, including the global “hypomethylator phenotype”, are...
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Genotype–phenotype correlation in PRKN-associated Parkinson’s disease
Bi-allelic pathogenic variants in PRKN are the most common cause of autosomal recessive Parkinson’s disease (PD). 647 patients with PRKN -PD were...
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ACAA2 is a novel molecular indicator for cancers with neuroendocrine phenotype
BackgroundNeuroendocrine phenotype is commonly associated with therapy resistance and poor prognoses in small-cell neuroendocrine cancers (SCNCs),...
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The Role of Oxidative Stress in Trisomy 21 Phenotype
Extensive research has been conducted to gain a deeper understanding of the deregulated metabolic pathways in the development of trisomy 21 (T21) or...
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Neighboring macrophage-induced alteration in the phenotype of colorectal cancer cells in the tumor budding area
BackgroundA higher number of tumor buds in the invasive front of colorectal cancer (CRC) specimens has been shown to contribute to a poor prognosis...
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Allelic phenotype prediction of phenylketonuria based on the machine learning method
BackgroundPhenylketonuria (PKU) is caused by mutations in the phenylalanine hydroxylase (PAH) gene. Our study aimed to predict the phenotype using...
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Functional Phenotype of Alveolar Macrophages Features in Rats with Metabolic Syndrome
Phenotypic characteristics of alveolar macrophages in the bronchoalveolar lavage fluid as well as their ability to acquire the M1 and M2 phenotypes...
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BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
BRAT1 biallelic variants are associated with rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL), and neurodevelopmental disorder...
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Somatic PDGFRB activating variants promote smooth muscle cell phenotype modulation in intracranial fusiform aneurysm
BackgroundThe fusiform aneurysm is a nonsaccular dilatation affecting the entire vessel wall over a short distance. Although PDGFRB somatic variants...
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Cooperative interactions between neurotrophin receptors and CXCR4 regulate macrophage phenotype and susceptibility to activation by HIV
Neural damage due to inflammatory activation of macrophages and microglia is a consequence of HIV infection that leads to cognitive dysfunction. The...
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Phenotype integration improves power and preserves specificity in biobank-based genetic studies of major depressive disorder
Biobanks often contain several phenotypes relevant to diseases such as major depressive disorder (MDD), with partly distinct genetic architectures....
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Li–Fraumeni syndrome in Tunisian carriers with different and rare tumor phenotype: genotype–phenotype correlation
BackgroundLi–Fraumeni syndrome (LFS) is a rare autosomal hereditary predisposition to multiples cancers, mainly affecting young individuals. It is...
