Germline mutations in retinoma patients: Relevance to low-penetrance and low-expressivity molecular basis

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The resilience of the mitochondrial genome (mtDNA) to a high mutational pressure depends, in part, on negative purifying selection in the germline. A paradigm in the field has been that such selection, at least in part, takes place in primordial germ cells ...

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We report a case of an uveal melanoma patient with GNAQ p.Gly48Leu who responded to MEK inhibition. At the time of the molecular analysis, the pathogenicity of the mutation was unknown. A tridimensional structural analysis showed that G alpha(q) can adopt ...

Primary prostate tumor heterogeneity is poorly understood, leaving research efforts with challenges regarding the initiation and advancement of the disease. The growth of tumor cells is accompanied by mutations in nuclear and in mitochondrial genomes. Thus ...

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Inherited retinal dystrophies (IRDs) are a large and heterogeneous group of degenerative diseases caused by mutations in various genes. Given the favorable anatomical and immunological characteristics of the eye, gene therapy holds great potential for thei ...

Genome-wide association (GWA) studies aim to dissect the relationship between genotype and phenotype. So far, the focus has been on nuclear genetic determinants as variation in the mitochondrial genome is often low in the study cohorts. Despite this observ ...

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Of the seven thousand diseases that are described as rare, 80% of them have an identified genetic cause. With this in the mind, the development of technologies, such as gene therapy, to address the genetic factors involved in these pathologies, might be a ...

Germline mutations in retinoma patients: Relevance to low-penetrance and low-expressivity molecular basis

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Reanalysis of mtDNA mutations of human primordial germ cells (PGCs) reveals NUMT contamination and suggests that selection in PGCs may be positive

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Trametinib Induces the Stabilization of a Dual GNAQ p.Gly48Leu-and FGFR4 p.Cys172Gly-Mutated Uveal Melanoma. The Role of Molecular Modelling in Personalized Oncology

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Multidisciplinary Approach to Treat Erectile Dysfunction

Novel PDE6B Mutation Presenting with Retinitis Pigmentosa - A Case Series of Three Patients

Directed evolution of the optoelectronic properties of synthetic nanomaterials

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Predicting the Occurrence of Variants in RAG1 and RAG2

Rapid Screen for Tyrosine Kinase Inhibitor Resistance Mutations and Substrate Specificity

Mutations in VSX2, SOX2, and FOXE3 Identified in Patients with Micro-/Anophthalmia

ZNF445 is a primary regulator of genomic imprinting

Gene Editing Preserves Visual Functions in a Mouse Model of Retinal Degeneration

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Mapping mitochondrial heteroplasmy in a Leydig tumor by laser capture microdissection and cycling temperature capillary electrophoresis

Cell lineage tracing in human tissues using somatic mitochondrial mutations

Inferring the age and strength of mutations evolving under positive selection

AAV based gene therapy for rare diseases : targeting astrocytes for functional recovery in Amyotrophic Lateral Sclerosis